Incidental Mutation 'R5254:Kmt2b'
| ID |
512260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt2b
|
| Ensembl Gene |
ENSMUSG00000006307 |
| Gene Name |
lysine (K)-specific methyltransferase 2B |
| Synonyms |
2610014H22Rik, Wbp7, Mll2 |
| MMRRC Submission |
042825-MU
|
| Accession Numbers |
Genbank: NM_029274; MGI: 109565 |
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5254 (G1)
|
| Quality Score |
67 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30568858-30588726 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30569175 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 2010
(R2010C)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006470]
[ENSMUST00000043273]
[ENSMUST00000043850]
[ENSMUST00000108154]
[ENSMUST00000108161]
[ENSMUST00000163276]
[ENSMUST00000163330]
[ENSMUST00000163464]
[ENSMUST00000163482]
[ENSMUST00000167361]
[ENSMUST00000164365]
[ENSMUST00000163654]
[ENSMUST00000168931]
[ENSMUST00000167202]
[ENSMUST00000166257]
[ENSMUST00000167042]
[ENSMUST00000166510]
[ENSMUST00000163848]
[ENSMUST00000166960]
[ENSMUST00000168555]
[ENSMUST00000167501]
[ENSMUST00000168229]
[ENSMUST00000168333]
[ENSMUST00000172251]
[ENSMUST00000171912]
[ENSMUST00000171850]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006470
AA Change: R2718C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000006470
Gene: ENSMUSG00000006307
AA Change: R2718C
| Domain | Start | End | E-Value | Type |
|---|
|
AT_hook
|
18 |
30 |
2.82e2 |
SMART |
|
low complexity region
|
66 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
AT_hook
|
149 |
159 |
2.4e2 |
SMART |
|
AT_hook
|
218 |
230 |
1.95e2 |
SMART |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
302 |
N/A |
INTRINSIC |
|
coiled coil region
|
353 |
413 |
N/A |
INTRINSIC |
|
AT_hook
|
476 |
488 |
5.47e-1 |
SMART |
|
low complexity region
|
501 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
700 |
N/A |
INTRINSIC |
|
low complexity region
|
715 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
922 |
N/A |
INTRINSIC |
|
Pfam:zf-CXXC
|
963 |
1010 |
7.2e-15 |
PFAM |
|
low complexity region
|
1039 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1115 |
N/A |
INTRINSIC |
|
PHD
|
1209 |
1256 |
1.25e-5 |
SMART |
|
PHD
|
1257 |
1307 |
5.4e-10 |
SMART |
|
PHD
|
1343 |
1400 |
1.27e-6 |
SMART |
|
low complexity region
|
1415 |
1427 |
N/A |
INTRINSIC |
|
PHD
|
1646 |
1692 |
3.82e-1 |
SMART |
|
FYRN
|
1745 |
1788 |
3.25e-19 |
SMART |
|
low complexity region
|
1881 |
1899 |
N/A |
INTRINSIC |
|
low complexity region
|
1912 |
1942 |
N/A |
INTRINSIC |
|
low complexity region
|
1961 |
1978 |
N/A |
INTRINSIC |
|
low complexity region
|
1991 |
2003 |
N/A |
INTRINSIC |
|
low complexity region
|
2013 |
2026 |
N/A |
INTRINSIC |
|
low complexity region
|
2048 |
2061 |
N/A |
INTRINSIC |
|
low complexity region
|
2087 |
2105 |
N/A |
INTRINSIC |
|
low complexity region
|
2127 |
2138 |
N/A |
INTRINSIC |
|
low complexity region
|
2215 |
2235 |
N/A |
INTRINSIC |
|
low complexity region
|
2239 |
2270 |
N/A |
INTRINSIC |
|
low complexity region
|
2396 |
2406 |
N/A |
INTRINSIC |
|
FYRC
|
2419 |
2504 |
4.83e-36 |
SMART |
|
SET
|
2581 |
2703 |
1.67e-42 |
SMART |
|
PostSET
|
2705 |
2721 |
4.65e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043273
|
| SMART Domains |
Protein: ENSMUSP00000039406
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
13 |
39 |
4.79e-3 |
SMART |
|
RRM
|
66 |
143 |
5.99e-4 |
SMART |
|
ZnF_C3H1
|
149 |
175 |
2.49e-1 |
SMART |
|
low complexity region
|
187 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043850
|
| SMART Domains |
Protein: ENSMUSP00000042312
Gene: ENSMUSG00000036826
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
166 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108154
AA Change: R2710C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103789
Gene: ENSMUSG00000006307
AA Change: R2710C
| Domain | Start | End | E-Value | Type |
|---|
|
AT_hook
|
18 |
30 |
2.82e2 |
SMART |
|
low complexity region
|
66 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
AT_hook
|
149 |
159 |
2.4e2 |
SMART |
|
AT_hook
|
218 |
230 |
1.95e2 |
SMART |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
302 |
N/A |
INTRINSIC |
|
coiled coil region
|
353 |
413 |
N/A |
INTRINSIC |
|
AT_hook
|
476 |
488 |
5.47e-1 |
SMART |
|
low complexity region
|
501 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
700 |
N/A |
INTRINSIC |
|
low complexity region
|
715 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
922 |
N/A |
INTRINSIC |
|
Pfam:zf-CXXC
|
963 |
1010 |
1e-14 |
PFAM |
|
low complexity region
|
1039 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1115 |
N/A |
INTRINSIC |
|
PHD
|
1209 |
1256 |
1.25e-5 |
SMART |
|
PHD
|
1257 |
1307 |
5.4e-10 |
SMART |
|
PHD
|
1343 |
1400 |
1.27e-6 |
SMART |
|
low complexity region
|
1415 |
1427 |
N/A |
INTRINSIC |
|
PHD
|
1646 |
1692 |
3.82e-1 |
SMART |
|
FYRN
|
1745 |
1788 |
3.25e-19 |
SMART |
|
low complexity region
|
1872 |
1890 |
N/A |
INTRINSIC |
|
low complexity region
|
1903 |
1933 |
N/A |
INTRINSIC |
|
low complexity region
|
1952 |
1969 |
N/A |
INTRINSIC |
|
low complexity region
|
1982 |
1994 |
N/A |
INTRINSIC |
|
low complexity region
|
2004 |
2017 |
N/A |
INTRINSIC |
|
low complexity region
|
2039 |
2052 |
N/A |
INTRINSIC |
|
low complexity region
|
2078 |
2096 |
N/A |
INTRINSIC |
|
low complexity region
|
2118 |
2129 |
N/A |
INTRINSIC |
|
low complexity region
|
2206 |
2226 |
N/A |
INTRINSIC |
|
low complexity region
|
2230 |
2261 |
N/A |
INTRINSIC |
|
low complexity region
|
2383 |
2398 |
N/A |
INTRINSIC |
|
FYRC
|
2411 |
2496 |
4.83e-36 |
SMART |
|
SET
|
2573 |
2695 |
1.67e-42 |
SMART |
|
PostSET
|
2697 |
2713 |
4.65e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108161
|
| SMART Domains |
Protein: ENSMUSP00000103796
Gene: ENSMUSG00000109378
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CCCH
|
13 |
39 |
8.8e-10 |
PFAM |
|
SCOP:d1jmta_
|
43 |
115 |
2e-17 |
SMART |
|
PDB:1JMT|A
|
43 |
116 |
3e-40 |
PDB |
|
Blast:RRM
|
45 |
116 |
2e-36 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128456
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131002
AA Change: R2010C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118486
Gene: ENSMUSG00000006307
AA Change: R2010C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
214 |
N/A |
INTRINSIC |
|
Pfam:zf-CXXC
|
255 |
302 |
5.2e-15 |
PFAM |
|
low complexity region
|
331 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
407 |
N/A |
INTRINSIC |
|
PHD
|
501 |
548 |
1.25e-5 |
SMART |
|
PHD
|
549 |
599 |
5.4e-10 |
SMART |
|
PHD
|
635 |
692 |
1.27e-6 |
SMART |
|
low complexity region
|
707 |
719 |
N/A |
INTRINSIC |
|
PHD
|
938 |
984 |
3.82e-1 |
SMART |
|
FYRN
|
1037 |
1080 |
3.25e-19 |
SMART |
|
low complexity region
|
1173 |
1191 |
N/A |
INTRINSIC |
|
low complexity region
|
1204 |
1234 |
N/A |
INTRINSIC |
|
low complexity region
|
1253 |
1270 |
N/A |
INTRINSIC |
|
low complexity region
|
1283 |
1295 |
N/A |
INTRINSIC |
|
low complexity region
|
1305 |
1318 |
N/A |
INTRINSIC |
|
low complexity region
|
1340 |
1353 |
N/A |
INTRINSIC |
|
low complexity region
|
1379 |
1397 |
N/A |
INTRINSIC |
|
low complexity region
|
1419 |
1430 |
N/A |
INTRINSIC |
|
low complexity region
|
1507 |
1527 |
N/A |
INTRINSIC |
|
low complexity region
|
1531 |
1562 |
N/A |
INTRINSIC |
|
low complexity region
|
1684 |
1699 |
N/A |
INTRINSIC |
|
FYRC
|
1712 |
1797 |
4.83e-36 |
SMART |
|
SET
|
1874 |
1996 |
1.67e-42 |
SMART |
|
PostSET
|
1998 |
2014 |
4.65e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136959
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163276
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163330
|
| SMART Domains |
Protein: ENSMUSP00000129385
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
39 |
116 |
5.99e-4 |
SMART |
|
Pfam:zf-CCCH
|
122 |
148 |
4.9e-8 |
PFAM |
|
low complexity region
|
160 |
192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163464
|
| SMART Domains |
Protein: ENSMUSP00000125959
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
13 |
39 |
4.79e-3 |
SMART |
|
RRM
|
66 |
143 |
5.99e-4 |
SMART |
|
ZnF_C3H1
|
149 |
171 |
3.95e1 |
SMART |
|
low complexity region
|
183 |
215 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163482
|
| SMART Domains |
Protein: ENSMUSP00000130649
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169071
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167361
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165722
|
| SMART Domains |
Protein: ENSMUSP00000125790
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CCCH
|
1 |
26 |
4.7e-10 |
PFAM |
|
PDB:1JMT|A
|
30 |
51 |
2e-6 |
PDB |
|
SCOP:d1jmta_
|
30 |
51 |
5e-3 |
SMART |
|
Blast:RRM
|
32 |
53 |
7e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165773
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164365
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163654
|
| SMART Domains |
Protein: ENSMUSP00000131048
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CCCH
|
13 |
39 |
1.3e-9 |
PFAM |
|
RRM
|
66 |
143 |
5.99e-4 |
SMART |
|
low complexity region
|
167 |
187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168931
|
| SMART Domains |
Protein: ENSMUSP00000129697
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
44 |
119 |
4.14e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167202
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166257
|
| SMART Domains |
Protein: ENSMUSP00000125838
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
13 |
39 |
4.79e-3 |
SMART |
|
RRM
|
33 |
104 |
2.35e-2 |
SMART |
|
ZnF_C3H1
|
110 |
136 |
2.49e-1 |
SMART |
|
low complexity region
|
148 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166864
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165009
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167042
|
| SMART Domains |
Protein: ENSMUSP00000128886
Gene: ENSMUSG00000109378
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
13 |
39 |
4.79e-3 |
SMART |
|
RRM
|
66 |
143 |
5.99e-4 |
SMART |
|
ZnF_C3H1
|
149 |
175 |
2.49e-1 |
SMART |
|
low complexity region
|
187 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166510
|
| SMART Domains |
Protein: ENSMUSP00000132316
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
13 |
39 |
4.79e-3 |
SMART |
|
RRM
|
45 |
133 |
2.51e-6 |
SMART |
|
ZnF_C3H1
|
139 |
165 |
2.49e-1 |
SMART |
|
low complexity region
|
177 |
209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165543
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164438
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168555
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167501
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168229
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168333
|
| SMART Domains |
Protein: ENSMUSP00000128950
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CCCH
|
13 |
39 |
4.8e-10 |
PFAM |
|
PDB:1JMT|A
|
43 |
94 |
5e-21 |
PDB |
|
SCOP:d1jmta_
|
43 |
94 |
2e-9 |
SMART |
|
Blast:RRM
|
45 |
94 |
5e-17 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165524
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169283
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172251
|
| SMART Domains |
Protein: ENSMUSP00000132400
Gene: ENSMUSG00000036826
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
transmembrane domain
|
186 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
284 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169962
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171912
|
| SMART Domains |
Protein: ENSMUSP00000130983
Gene: ENSMUSG00000109378
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
13 |
39 |
4.79e-3 |
SMART |
|
RRM
|
66 |
143 |
5.99e-4 |
SMART |
|
ZnF_C3H1
|
149 |
175 |
2.49e-1 |
SMART |
|
low complexity region
|
187 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171850
|
| SMART Domains |
Protein: ENSMUSP00000131781
Gene: ENSMUSG00000078765
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
13 |
39 |
4.79e-3 |
SMART |
|
PDB:1JMT|A
|
43 |
113 |
1e-16 |
PDB |
|
SCOP:d1jmta_
|
43 |
113 |
1e-9 |
SMART |
|
Blast:RRM
|
45 |
110 |
3e-17 |
BLAST |
|
ZnF_C3H1
|
116 |
142 |
2.49e-1 |
SMART |
|
low complexity region
|
154 |
186 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
98% (82/84) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene leads to embryonic growth retardation, abnormal somite development, neural tube defects, increased apoptosis, and complete embryonic lethality. Homozygotes for a hypomorphic allele show embryonic growth arrest, altered DNA methylation, and reduced female fertility. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(8) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(4) |
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
G |
T |
8: 71,458,398 |
C296* |
probably null |
Het |
| Adam11 |
T |
A |
11: 102,774,272 |
Y413* |
probably null |
Het |
| Ankhd1 |
A |
G |
18: 36,656,715 |
I907V |
probably benign |
Het |
| Arrdc5 |
A |
G |
17: 56,297,897 |
I130T |
probably benign |
Het |
| Asic5 |
T |
A |
3: 82,020,987 |
I419K |
probably damaging |
Het |
| Atp4a |
A |
T |
7: 30,715,530 |
E248V |
probably damaging |
Het |
| Avil |
C |
A |
10: 127,011,761 |
V154L |
probably benign |
Het |
| Bclaf1 |
T |
A |
10: 20,323,536 |
H226Q |
possibly damaging |
Het |
| Cald1 |
A |
G |
6: 34,746,416 |
|
probably benign |
Het |
| Cd200r4 |
A |
C |
16: 44,832,090 |
D27A |
possibly damaging |
Het |
| Cdsn |
T |
A |
17: 35,552,202 |
M1K |
probably null |
Het |
| Cfap46 |
T |
A |
7: 139,678,514 |
H281L |
possibly damaging |
Het |
| Chaf1a |
T |
C |
17: 56,062,606 |
F533L |
probably benign |
Het |
| Chil4 |
T |
A |
3: 106,219,452 |
I5F |
probably benign |
Het |
| Ctu2 |
A |
T |
8: 122,476,588 |
R48W |
probably damaging |
Het |
| Daam1 |
A |
T |
12: 71,946,576 |
H373L |
unknown |
Het |
| Dcaf10 |
T |
A |
4: 45,370,415 |
Y328N |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,177,931 |
K1151* |
probably null |
Het |
| Ect2 |
T |
C |
3: 27,130,070 |
D503G |
probably damaging |
Het |
| Epm2a |
C |
A |
10: 11,457,345 |
D307E |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,337,930 |
D73V |
probably damaging |
Het |
| Fam20b |
C |
T |
1: 156,705,740 |
G102D |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,281,175 |
N2904S |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,375,690 |
Q147L |
possibly damaging |
Het |
| Fndc11 |
A |
G |
2: 181,222,163 |
T254A |
possibly damaging |
Het |
| Galnt15 |
C |
T |
14: 32,058,287 |
R514* |
probably null |
Het |
| Gbgt1 |
A |
G |
2: 28,505,208 |
D286G |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,579,198 |
|
probably null |
Het |
| Gm26526 |
A |
T |
7: 39,589,234 |
|
noncoding transcript |
Het |
| H2-K1 |
T |
C |
17: 33,997,462 |
T237A |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 68,207,319 |
S1010T |
probably damaging |
Het |
| Il21 |
T |
C |
3: 37,227,735 |
T87A |
possibly damaging |
Het |
| Kmt2c |
G |
A |
5: 25,314,594 |
P2173S |
probably benign |
Het |
| Krt1 |
A |
T |
15: 101,846,368 |
S512T |
unknown |
Het |
| Krtap16-1 |
G |
A |
11: 99,985,598 |
R327* |
probably null |
Het |
| Lama1 |
T |
A |
17: 67,756,716 |
I745N |
probably benign |
Het |
| Lrrk1 |
T |
A |
7: 66,307,107 |
N372I |
probably benign |
Het |
| Lyst |
A |
T |
13: 13,683,070 |
E2481D |
probably benign |
Het |
| Map2k1 |
A |
T |
9: 64,187,745 |
|
probably benign |
Het |
| Mbip |
A |
G |
12: 56,337,443 |
V215A |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 35,847,922 |
V398D |
probably benign |
Het |
| Mog |
T |
G |
17: 37,012,372 |
I225L |
probably benign |
Het |
| Mrgprx3-ps |
T |
A |
7: 47,309,436 |
|
noncoding transcript |
Het |
| Muc5b |
C |
T |
7: 141,864,540 |
S3741L |
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,130,120 |
I202F |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,700,606 |
I818F |
possibly damaging |
Het |
| Nfia |
T |
A |
4: 98,014,297 |
M262K |
probably damaging |
Het |
| Nisch |
C |
T |
14: 31,206,567 |
|
probably null |
Het |
| Nkd1 |
A |
G |
8: 88,589,194 |
D64G |
probably damaging |
Het |
| Nt5c2 |
T |
A |
19: 46,893,560 |
K284* |
probably null |
Het |
| Olfr1052 |
A |
T |
2: 86,297,921 |
Y35F |
probably damaging |
Het |
| Olfr1058 |
A |
T |
2: 86,386,140 |
S93T |
possibly damaging |
Het |
| Olfr262 |
A |
G |
19: 12,241,248 |
S138P |
probably damaging |
Het |
| Olfr305 |
A |
T |
7: 86,364,190 |
V49E |
possibly damaging |
Het |
| Olfr619 |
T |
G |
7: 103,603,789 |
I45R |
probably benign |
Het |
| Olfr723 |
A |
T |
14: 49,928,779 |
I255N |
probably damaging |
Het |
| Olfr725 |
C |
A |
14: 50,034,678 |
A242S |
possibly damaging |
Het |
| Olfr972 |
A |
T |
9: 39,873,445 |
T57S |
possibly damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,486,825 |
D556V |
probably damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,726,620 |
D243V |
probably benign |
Het |
| Polq |
A |
T |
16: 37,089,319 |
Q2355L |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,344,393 |
Q436* |
probably null |
Het |
| Slc5a4a |
C |
A |
10: 76,182,738 |
Y506* |
probably null |
Het |
| Sp110 |
G |
C |
1: 85,577,202 |
|
probably benign |
Het |
| Tarbp1 |
G |
A |
8: 126,467,156 |
H336Y |
probably damaging |
Het |
| Tas2r134 |
T |
G |
2: 51,627,547 |
F13V |
probably benign |
Het |
| Tgfb2 |
A |
G |
1: 186,704,483 |
Y98H |
probably damaging |
Het |
| Tmprss11a |
C |
A |
5: 86,411,806 |
V376L |
probably damaging |
Het |
| Tmprss11f |
T |
A |
5: 86,538,033 |
K158N |
probably benign |
Het |
| Tnip2 |
G |
T |
5: 34,503,578 |
Q177K |
probably damaging |
Het |
| Trp53inp1 |
T |
A |
4: 11,165,075 |
|
probably null |
Het |
| Ttc28 |
C |
T |
5: 111,271,238 |
P1398S |
probably benign |
Het |
| Umodl1 |
T |
G |
17: 30,980,359 |
I308S |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,691,600 |
S1942T |
probably damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,063,077 |
N344K |
probably benign |
Het |
| Vmn2r25 |
C |
G |
6: 123,825,318 |
C542S |
probably damaging |
Het |
| Wiz |
T |
A |
17: 32,378,496 |
|
probably benign |
Het |
| Wrap73 |
A |
G |
4: 154,155,346 |
Y343C |
probably benign |
Het |
|
| Other mutations in Kmt2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00580:Kmt2b
|
APN |
7 |
30586513 |
unclassified |
probably benign |
|
|
IGL00821:Kmt2b
|
APN |
7 |
30570613 |
missense |
probably damaging |
1.00 |
|
IGL00985:Kmt2b
|
APN |
7 |
30579927 |
missense |
probably damaging |
1.00 |
|
IGL01092:Kmt2b
|
APN |
7 |
30580507 |
missense |
probably damaging |
1.00 |
|
IGL01933:Kmt2b
|
APN |
7 |
30569514 |
critical splice donor site |
probably null |
|
|
IGL01949:Kmt2b
|
APN |
7 |
30577161 |
splice site |
probably null |
|
|
IGL02253:Kmt2b
|
APN |
7 |
30581727 |
missense |
probably damaging |
1.00 |
|
IGL02455:Kmt2b
|
APN |
7 |
30578878 |
critical splice donor site |
probably null |
|
|
IGL02493:Kmt2b
|
APN |
7 |
30569511 |
unclassified |
probably benign |
|
|
IGL02504:Kmt2b
|
APN |
7 |
30586543 |
unclassified |
probably benign |
|
|
IGL02532:Kmt2b
|
APN |
7 |
30586889 |
unclassified |
probably benign |
|
|
IGL02698:Kmt2b
|
APN |
7 |
30578693 |
splice site |
probably benign |
|
|
IGL02717:Kmt2b
|
APN |
7 |
30583444 |
missense |
probably damaging |
1.00 |
|
IGL02826:Kmt2b
|
APN |
7 |
30577144 |
missense |
probably damaging |
1.00 |
|
IGL02966:Kmt2b
|
APN |
7 |
30575462 |
missense |
probably benign |
0.02 |
|
IGL03386:Kmt2b
|
APN |
7 |
30573971 |
missense |
possibly damaging |
0.94 |
|
Dean
|
UTSW |
7 |
30569410 |
missense |
possibly damaging |
0.83 |
|
provost
|
UTSW |
7 |
30582208 |
missense |
probably damaging |
1.00 |
|
tenure
|
UTSW |
7 |
30569175 |
missense |
probably damaging |
1.00 |
|
3-1:Kmt2b
|
UTSW |
7 |
30569615 |
nonsense |
probably null |
|
|
FR4304:Kmt2b
|
UTSW |
7 |
30586363 |
unclassified |
probably benign |
|
|
FR4340:Kmt2b
|
UTSW |
7 |
30586363 |
unclassified |
probably benign |
|
|
FR4340:Kmt2b
|
UTSW |
7 |
30586369 |
unclassified |
probably benign |
|
|
FR4340:Kmt2b
|
UTSW |
7 |
30586375 |
unclassified |
probably benign |
|
|
FR4342:Kmt2b
|
UTSW |
7 |
30586375 |
unclassified |
probably benign |
|
|
FR4449:Kmt2b
|
UTSW |
7 |
30586361 |
unclassified |
probably benign |
|
|
FR4449:Kmt2b
|
UTSW |
7 |
30586366 |
unclassified |
probably benign |
|
|
FR4449:Kmt2b
|
UTSW |
7 |
30586369 |
unclassified |
probably benign |
|
|
FR4548:Kmt2b
|
UTSW |
7 |
30586380 |
unclassified |
probably benign |
|
|
FR4589:Kmt2b
|
UTSW |
7 |
30586361 |
unclassified |
probably benign |
|
|
FR4589:Kmt2b
|
UTSW |
7 |
30586364 |
nonsense |
probably null |
|
|
FR4589:Kmt2b
|
UTSW |
7 |
30586381 |
unclassified |
probably benign |
|
|
FR4737:Kmt2b
|
UTSW |
7 |
30586366 |
unclassified |
probably benign |
|
|
FR4737:Kmt2b
|
UTSW |
7 |
30586367 |
unclassified |
probably benign |
|
|
FR4737:Kmt2b
|
UTSW |
7 |
30586370 |
unclassified |
probably benign |
|
|
FR4737:Kmt2b
|
UTSW |
7 |
30586378 |
unclassified |
probably benign |
|
|
FR4976:Kmt2b
|
UTSW |
7 |
30586360 |
unclassified |
probably benign |
|
|
FR4976:Kmt2b
|
UTSW |
7 |
30586362 |
unclassified |
probably benign |
|
|
FR4976:Kmt2b
|
UTSW |
7 |
30586364 |
nonsense |
probably null |
|
|
FR4976:Kmt2b
|
UTSW |
7 |
30586366 |
unclassified |
probably benign |
|
|
FR4976:Kmt2b
|
UTSW |
7 |
30586373 |
unclassified |
probably benign |
|
|
PIT4403001:Kmt2b
|
UTSW |
7 |
30585689 |
missense |
probably damaging |
1.00 |
|
PIT4802001:Kmt2b
|
UTSW |
7 |
30579571 |
missense |
probably damaging |
0.99 |
|
R0057:Kmt2b
|
UTSW |
7 |
30576792 |
splice site |
probably benign |
|
|
R0131:Kmt2b
|
UTSW |
7 |
30583921 |
missense |
probably damaging |
0.99 |
|
R0241:Kmt2b
|
UTSW |
7 |
30577069 |
missense |
probably damaging |
1.00 |
|
R0241:Kmt2b
|
UTSW |
7 |
30577069 |
missense |
probably damaging |
1.00 |
|
R0377:Kmt2b
|
UTSW |
7 |
30574193 |
missense |
probably damaging |
1.00 |
|
R0396:Kmt2b
|
UTSW |
7 |
30576755 |
missense |
probably damaging |
1.00 |
|
R1241:Kmt2b
|
UTSW |
7 |
30574940 |
missense |
probably damaging |
0.98 |
|
R1252:Kmt2b
|
UTSW |
7 |
30580487 |
missense |
probably damaging |
0.99 |
|
R1418:Kmt2b
|
UTSW |
7 |
30576960 |
splice site |
probably benign |
|
|
R1599:Kmt2b
|
UTSW |
7 |
30570575 |
missense |
probably damaging |
1.00 |
|
R1632:Kmt2b
|
UTSW |
7 |
30583962 |
missense |
probably damaging |
1.00 |
|
R1745:Kmt2b
|
UTSW |
7 |
30585850 |
missense |
possibly damaging |
0.90 |
|
R1867:Kmt2b
|
UTSW |
7 |
30574658 |
missense |
possibly damaging |
0.71 |
|
R1955:Kmt2b
|
UTSW |
7 |
30575351 |
missense |
possibly damaging |
0.90 |
|
R2040:Kmt2b
|
UTSW |
7 |
30569420 |
missense |
probably damaging |
1.00 |
|
R2113:Kmt2b
|
UTSW |
7 |
30583387 |
missense |
probably damaging |
1.00 |
|
R2216:Kmt2b
|
UTSW |
7 |
30574065 |
missense |
probably benign |
0.25 |
|
R2401:Kmt2b
|
UTSW |
7 |
30576708 |
missense |
probably damaging |
1.00 |
|
R2518:Kmt2b
|
UTSW |
7 |
30576068 |
missense |
probably benign |
0.10 |
|
R3436:Kmt2b
|
UTSW |
7 |
30576692 |
missense |
probably damaging |
1.00 |
|
R4248:Kmt2b
|
UTSW |
7 |
30574064 |
missense |
probably benign |
0.25 |
|
R4259:Kmt2b
|
UTSW |
7 |
30581081 |
missense |
probably damaging |
0.99 |
|
R4290:Kmt2b
|
UTSW |
7 |
30581836 |
critical splice donor site |
probably null |
|
|
R4388:Kmt2b
|
UTSW |
7 |
30588590 |
unclassified |
probably benign |
|
|
R4542:Kmt2b
|
UTSW |
7 |
30580259 |
missense |
probably damaging |
0.99 |
|
R4649:Kmt2b
|
UTSW |
7 |
30586358 |
unclassified |
probably benign |
|
|
R4722:Kmt2b
|
UTSW |
7 |
30583202 |
missense |
probably damaging |
1.00 |
|
R4891:Kmt2b
|
UTSW |
7 |
30576761 |
nonsense |
probably null |
|
|
R4916:Kmt2b
|
UTSW |
7 |
30578517 |
missense |
probably damaging |
0.99 |
|
R5104:Kmt2b
|
UTSW |
7 |
30569840 |
missense |
probably damaging |
1.00 |
|
R5262:Kmt2b
|
UTSW |
7 |
30569794 |
missense |
probably damaging |
1.00 |
|
R5307:Kmt2b
|
UTSW |
7 |
30581673 |
missense |
possibly damaging |
0.91 |
|
R5526:Kmt2b
|
UTSW |
7 |
30580444 |
missense |
probably damaging |
1.00 |
|
R5609:Kmt2b
|
UTSW |
7 |
30577145 |
missense |
probably damaging |
0.99 |
|
R6150:Kmt2b
|
UTSW |
7 |
30588477 |
unclassified |
probably benign |
|
|
R6727:Kmt2b
|
UTSW |
7 |
30584559 |
missense |
probably damaging |
0.98 |
|
R6824:Kmt2b
|
UTSW |
7 |
30586276 |
unclassified |
probably benign |
|
|
R7048:Kmt2b
|
UTSW |
7 |
30569306 |
missense |
probably damaging |
0.99 |
|
R7155:Kmt2b
|
UTSW |
7 |
30579963 |
missense |
probably damaging |
0.99 |
|
R7307:Kmt2b
|
UTSW |
7 |
30580471 |
missense |
probably damaging |
0.99 |
|
R7388:Kmt2b
|
UTSW |
7 |
30581960 |
missense |
probably damaging |
1.00 |
|
R7555:Kmt2b
|
UTSW |
7 |
30569410 |
missense |
possibly damaging |
0.83 |
|
R7569:Kmt2b
|
UTSW |
7 |
30569553 |
missense |
possibly damaging |
0.54 |
|
R7616:Kmt2b
|
UTSW |
7 |
30582208 |
missense |
probably damaging |
1.00 |
|
R7669:Kmt2b
|
UTSW |
7 |
30583231 |
missense |
possibly damaging |
0.84 |
|
R7881:Kmt2b
|
UTSW |
7 |
30579783 |
missense |
probably damaging |
1.00 |
|
R7999:Kmt2b
|
UTSW |
7 |
30576774 |
missense |
probably damaging |
1.00 |
|
R8003:Kmt2b
|
UTSW |
7 |
30569377 |
missense |
probably damaging |
0.98 |
|
R8189:Kmt2b
|
UTSW |
7 |
30569331 |
missense |
probably damaging |
0.98 |
|
R8291:Kmt2b
|
UTSW |
7 |
30585469 |
missense |
probably damaging |
1.00 |
|
R8314:Kmt2b
|
UTSW |
7 |
30578922 |
missense |
probably damaging |
0.99 |
|
R8802:Kmt2b
|
UTSW |
7 |
30584071 |
missense |
probably damaging |
1.00 |
|
R8954:Kmt2b
|
UTSW |
7 |
30574215 |
missense |
probably damaging |
1.00 |
|
R9046:Kmt2b
|
UTSW |
7 |
30586054 |
missense |
probably benign |
0.00 |
|
R9225:Kmt2b
|
UTSW |
7 |
30586747 |
missense |
unknown |
|
|
R9258:Kmt2b
|
UTSW |
7 |
30582468 |
missense |
probably null |
0.99 |
|
R9414:Kmt2b
|
UTSW |
7 |
30582882 |
missense |
probably damaging |
0.99 |
|
R9468:Kmt2b
|
UTSW |
7 |
30585088 |
missense |
probably damaging |
0.98 |
|
R9508:Kmt2b
|
UTSW |
7 |
30569834 |
missense |
probably damaging |
0.99 |
|
R9642:Kmt2b
|
UTSW |
7 |
30583915 |
critical splice donor site |
probably null |
|
|
R9667:Kmt2b
|
UTSW |
7 |
30588359 |
missense |
unknown |
|
|
R9709:Kmt2b
|
UTSW |
7 |
30579803 |
missense |
probably damaging |
0.98 |
|
RF001:Kmt2b
|
UTSW |
7 |
30586382 |
unclassified |
probably benign |
|
|
RF006:Kmt2b
|
UTSW |
7 |
30586377 |
unclassified |
probably benign |
|
|
RF020:Kmt2b
|
UTSW |
7 |
30586382 |
unclassified |
probably benign |
|
|
RF021:Kmt2b
|
UTSW |
7 |
30586357 |
unclassified |
probably benign |
|
|
RF030:Kmt2b
|
UTSW |
7 |
30586377 |
unclassified |
probably benign |
|
|
RF035:Kmt2b
|
UTSW |
7 |
30586357 |
unclassified |
probably benign |
|
|
X0067:Kmt2b
|
UTSW |
7 |
30579573 |
missense |
probably damaging |
0.99 |
|
Z1088:Kmt2b
|
UTSW |
7 |
30585251 |
missense |
probably benign |
0.28 |
|
Z1176:Kmt2b
|
UTSW |
7 |
30577370 |
missense |
probably damaging |
1.00 |
|
Z1177:Kmt2b
|
UTSW |
7 |
30575024 |
missense |
probably benign |
0.08 |
|
Z1177:Kmt2b
|
UTSW |
7 |
30584163 |
missense |
probably damaging |
0.98 |
|
Z1177:Kmt2b
|
UTSW |
7 |
30586416 |
missense |
unknown |
|
|
Z1186:Kmt2b
|
UTSW |
7 |
30574979 |
missense |
probably benign |
|
|
Z1186:Kmt2b
|
UTSW |
7 |
30585307 |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATATCTACATCCTGGGTCCCC -3'
(R):5'- ATCAACCACTCATGTGAGCC -3'
Sequencing Primer
(F):5'- TCCCCAGGGAAGGAGGAAG -3'
(R):5'- TCATGTGAGCCCAACTGC -3'
|
| Posted On |
2018-04-12 |
Incidental Mutation