Incidental Mutation 'R2178:Kmt5b'
| ID |
237025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt5b
|
| Ensembl Gene |
ENSMUSG00000045098 |
| Gene Name |
lysine methyltransferase 5B |
| Synonyms |
Suv420h1, C630029K18Rik, Suv4-20h1 |
| MMRRC Submission |
040180-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2178 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
3817421-3868303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 3865372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 789
(E789A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113972]
[ENSMUST00000113973]
[ENSMUST00000113974]
[ENSMUST00000113977]
[ENSMUST00000176262]
|
| AlphaFold |
Q3U8K7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113972
AA Change: E812A
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109605
Gene: ENSMUSG00000045098
AA Change: E812A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
58 |
126 |
1e-34 |
BLAST |
|
SET
|
199 |
315 |
3.46e-17 |
SMART |
|
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
846 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
874 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113973
AA Change: E812A
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109606
Gene: ENSMUSG00000045098
AA Change: E812A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
58 |
126 |
1e-34 |
BLAST |
|
SET
|
199 |
315 |
3.46e-17 |
SMART |
|
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
536 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
846 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
874 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113974
AA Change: E789A
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109607
Gene: ENSMUSG00000045098
AA Change: E789A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
58 |
107 |
6e-21 |
BLAST |
|
SET
|
176 |
292 |
3.46e-17 |
SMART |
|
low complexity region
|
345 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
823 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
851 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113977
AA Change: E789A
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109610
Gene: ENSMUSG00000045098
AA Change: E789A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
58 |
107 |
6e-21 |
BLAST |
|
SET
|
176 |
292 |
3.46e-17 |
SMART |
|
low complexity region
|
345 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
823 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
851 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118575
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176262
AA Change: E789A
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135563
Gene: ENSMUSG00000045098
AA Change: E789A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
58 |
107 |
6e-21 |
BLAST |
|
SET
|
176 |
292 |
3.46e-17 |
SMART |
|
low complexity region
|
345 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
823 |
N/A |
INTRINSIC |
|
low complexity region
|
840 |
851 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are born at sub-Mendelian ratios, are smaller than control littermates, and die within a few hours of birth, probably due to alveolar defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
A |
T |
15: 98,492,236 (GRCm39) |
N1007K |
probably damaging |
Het |
| Apon |
C |
A |
10: 128,090,634 (GRCm39) |
A104E |
probably benign |
Het |
| Cdh15 |
T |
A |
8: 123,591,715 (GRCm39) |
|
probably null |
Het |
| Cep135 |
T |
C |
5: 76,779,297 (GRCm39) |
V769A |
probably benign |
Het |
| Cep152 |
A |
T |
2: 125,421,954 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
T |
C |
3: 144,711,863 (GRCm39) |
N711D |
probably damaging |
Het |
| Col1a2 |
T |
C |
6: 4,531,143 (GRCm39) |
F731L |
unknown |
Het |
| Cpt1b |
T |
C |
15: 89,303,246 (GRCm39) |
E603G |
probably damaging |
Het |
| Cspp1 |
T |
G |
1: 10,174,471 (GRCm39) |
D641E |
possibly damaging |
Het |
| Ddr2 |
C |
T |
1: 169,822,251 (GRCm39) |
R399Q |
probably benign |
Het |
| Dzip1 |
T |
C |
14: 119,126,816 (GRCm39) |
|
probably null |
Het |
| Greb1 |
A |
G |
12: 16,746,388 (GRCm39) |
V1294A |
probably damaging |
Het |
| Hmgb4 |
A |
G |
4: 128,154,275 (GRCm39) |
S98P |
probably damaging |
Het |
| Kif12 |
G |
A |
4: 63,085,196 (GRCm39) |
P515L |
probably benign |
Het |
| Lama1 |
G |
T |
17: 68,076,510 (GRCm39) |
V1095F |
probably benign |
Het |
| Leprot |
T |
C |
4: 101,513,308 (GRCm39) |
V32A |
probably benign |
Het |
| Mcoln1 |
A |
G |
8: 3,558,766 (GRCm39) |
T255A |
probably damaging |
Het |
| Mertk |
G |
A |
2: 128,634,984 (GRCm39) |
E765K |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,853 (GRCm39) |
T3600A |
possibly damaging |
Het |
| Ncapd3 |
A |
T |
9: 26,999,845 (GRCm39) |
E1395V |
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 58,956,616 (GRCm39) |
F25S |
probably benign |
Het |
| Or2a5 |
A |
G |
6: 42,873,732 (GRCm39) |
M116V |
probably benign |
Het |
| Or6z1 |
G |
T |
7: 6,504,487 (GRCm39) |
A246D |
probably damaging |
Het |
| Or7c70 |
T |
A |
10: 78,683,612 (GRCm39) |
I46F |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,269,924 (GRCm39) |
H1613N |
probably benign |
Het |
| Polq |
T |
C |
16: 36,883,191 (GRCm39) |
V1785A |
probably damaging |
Het |
| Pramel23 |
A |
T |
4: 143,424,612 (GRCm39) |
I277K |
possibly damaging |
Het |
| Prkar2a |
T |
C |
9: 108,617,737 (GRCm39) |
|
probably null |
Het |
| Qrich2 |
T |
C |
11: 116,334,603 (GRCm39) |
D2194G |
probably damaging |
Het |
| Rnf183 |
T |
C |
4: 62,346,333 (GRCm39) |
N155S |
probably benign |
Het |
| S1pr5 |
T |
C |
9: 21,155,760 (GRCm39) |
N222S |
probably benign |
Het |
| Scnn1a |
C |
T |
6: 125,307,965 (GRCm39) |
R170C |
probably damaging |
Het |
| Slc25a2 |
T |
C |
18: 37,771,311 (GRCm39) |
T73A |
probably benign |
Het |
| Tgfb1 |
A |
G |
7: 25,404,234 (GRCm39) |
N347S |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,315,433 (GRCm39) |
V229A |
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,115,941 (GRCm39) |
E313G |
probably benign |
Het |
| Tnfsf11 |
A |
G |
14: 78,521,682 (GRCm39) |
S176P |
probably benign |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vps39 |
C |
A |
2: 120,154,160 (GRCm39) |
E612* |
probably null |
Het |
| Vwf |
T |
A |
6: 125,619,095 (GRCm39) |
Y1258N |
possibly damaging |
Het |
|
| Other mutations in Kmt5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01521:Kmt5b
|
APN |
19 |
3,836,618 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02005:Kmt5b
|
APN |
19 |
3,836,538 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02058:Kmt5b
|
APN |
19 |
3,843,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02069:Kmt5b
|
APN |
19 |
3,857,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02395:Kmt5b
|
APN |
19 |
3,864,887 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02701:Kmt5b
|
APN |
19 |
3,846,681 (GRCm39) |
missense |
probably benign |
0.08 |
|
loony
|
UTSW |
19 |
3,854,501 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Tunes
|
UTSW |
19 |
3,852,799 (GRCm39) |
nonsense |
probably null |
|
|
P0047:Kmt5b
|
UTSW |
19 |
3,843,223 (GRCm39) |
splice site |
probably benign |
|
|
R0127:Kmt5b
|
UTSW |
19 |
3,836,465 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R1574:Kmt5b
|
UTSW |
19 |
3,836,633 (GRCm39) |
splice site |
probably null |
|
|
R1574:Kmt5b
|
UTSW |
19 |
3,836,633 (GRCm39) |
splice site |
probably null |
|
|
R1797:Kmt5b
|
UTSW |
19 |
3,864,833 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2418:Kmt5b
|
UTSW |
19 |
3,857,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4290:Kmt5b
|
UTSW |
19 |
3,852,193 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4789:Kmt5b
|
UTSW |
19 |
3,865,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4939:Kmt5b
|
UTSW |
19 |
3,865,245 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5133:Kmt5b
|
UTSW |
19 |
3,852,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5392:Kmt5b
|
UTSW |
19 |
3,852,127 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5568:Kmt5b
|
UTSW |
19 |
3,836,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6029:Kmt5b
|
UTSW |
19 |
3,852,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6184:Kmt5b
|
UTSW |
19 |
3,854,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6649:Kmt5b
|
UTSW |
19 |
3,857,295 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7043:Kmt5b
|
UTSW |
19 |
3,865,220 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7131:Kmt5b
|
UTSW |
19 |
3,865,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7203:Kmt5b
|
UTSW |
19 |
3,864,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7287:Kmt5b
|
UTSW |
19 |
3,854,501 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7468:Kmt5b
|
UTSW |
19 |
3,852,799 (GRCm39) |
nonsense |
probably null |
|
|
R7850:Kmt5b
|
UTSW |
19 |
3,865,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Kmt5b
|
UTSW |
19 |
3,865,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8334:Kmt5b
|
UTSW |
19 |
3,864,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8336:Kmt5b
|
UTSW |
19 |
3,865,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9192:Kmt5b
|
UTSW |
19 |
3,854,442 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9199:Kmt5b
|
UTSW |
19 |
3,865,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9683:Kmt5b
|
UTSW |
19 |
3,865,587 (GRCm39) |
makesense |
probably null |
|
|
Z1176:Kmt5b
|
UTSW |
19 |
3,843,118 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGCCAAGCTCAGTAACGG -3'
(R):5'- CAGAACAATGAGTGAGCGCTC -3'
Sequencing Primer
(F):5'- CCAAGCTCAGTAACGGGGTCAG -3'
(R):5'- GCTCATGCGTTCAGTCTTAGAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation