Incidental Mutation 'R6184:Kmt5b'
| ID |
488165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt5b
|
| Ensembl Gene |
ENSMUSG00000045098 |
| Gene Name |
lysine methyltransferase 5B |
| Synonyms |
Suv420h1, C630029K18Rik, Suv4-20h1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
3817421-3868303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3854499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 254
(M254K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005518]
[ENSMUST00000052699]
[ENSMUST00000113968]
[ENSMUST00000113970]
[ENSMUST00000113972]
[ENSMUST00000113973]
[ENSMUST00000113974]
[ENSMUST00000176926]
[ENSMUST00000152935]
[ENSMUST00000176262]
[ENSMUST00000113977]
|
| AlphaFold |
Q3U8K7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005518
AA Change: M254K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000005518
Gene: ENSMUSG00000045098
AA Change: M254K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
58 |
126 |
4e-37 |
BLAST |
|
SET
|
199 |
315 |
3.46e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052699
AA Change: M254K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000060162
Gene: ENSMUSG00000045098
AA Change: M254K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
58 |
126 |
1e-36 |
BLAST |
|
SET
|
199 |
315 |
3.46e-17 |
SMART |
|
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113968
AA Change: M254K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109601
Gene: ENSMUSG00000045098
AA Change: M254K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
58 |
126 |
4e-37 |
BLAST |
|
SET
|
199 |
315 |
3.46e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113970
AA Change: M254K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109603
Gene: ENSMUSG00000045098
AA Change: M254K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
58 |
126 |
1e-36 |
BLAST |
|
SET
|
199 |
315 |
3.46e-17 |
SMART |
|
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113972
AA Change: M254K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109605
Gene: ENSMUSG00000045098
AA Change: M254K
| 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 |
probably damaging
Transcript: ENSMUST00000113973
AA Change: M254K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109606
Gene: ENSMUSG00000045098
AA Change: M254K
| 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 |
probably damaging
Transcript: ENSMUST00000113974
AA Change: M231K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109607
Gene: ENSMUSG00000045098
AA Change: M231K
| 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 |
probably damaging
Transcript: ENSMUST00000176926
AA Change: M254K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135756
Gene: ENSMUSG00000045098
AA Change: M254K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
58 |
126 |
3e-36 |
BLAST |
|
SET
|
199 |
315 |
3.46e-17 |
SMART |
|
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152935
AA Change: M212K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115984
Gene: ENSMUSG00000045098
AA Change: M212K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
16 |
84 |
9e-39 |
BLAST |
|
PDB:3S8P|B
|
22 |
212 |
1e-139 |
PDB |
|
Blast:SET
|
157 |
212 |
4e-32 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176262
AA Change: M231K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135563
Gene: ENSMUSG00000045098
AA Change: M231K
| 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 |
probably damaging
Transcript: ENSMUST00000113977
AA Change: M231K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109610
Gene: ENSMUSG00000045098
AA Change: M231K
| 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 |
noncoding transcript
Transcript: ENSMUST00000135586
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176125
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
A |
G |
12: 17,057,179 (GRCm39) |
F106S |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,581,957 (GRCm39) |
F4696I |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,756,047 (GRCm39) |
I1073V |
probably damaging |
Het |
| Card11 |
A |
T |
5: 140,884,033 (GRCm39) |
D415E |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,390,792 (GRCm39) |
|
probably null |
Het |
| Coro2a |
T |
C |
4: 46,540,504 (GRCm39) |
T472A |
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,069,574 (GRCm39) |
F878I |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,787,127 (GRCm39) |
D80E |
probably damaging |
Het |
| Ddrgk1 |
A |
T |
2: 130,506,481 (GRCm39) |
V2E |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,867,896 (GRCm39) |
H1508R |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,176,656 (GRCm39) |
N344S |
probably benign |
Het |
| Eml5 |
A |
G |
12: 98,829,388 (GRCm39) |
V503A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,406,429 (GRCm39) |
H1060R |
probably benign |
Het |
| Fbxw8 |
C |
T |
5: 118,251,814 (GRCm39) |
R233Q |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,890,211 (GRCm39) |
K238R |
probably damaging |
Het |
| Flg |
T |
A |
3: 93,187,357 (GRCm39) |
S270T |
probably benign |
Het |
| Gm10801 |
TC |
TCGCC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Gm3604 |
A |
T |
13: 62,519,659 (GRCm39) |
V32D |
probably damaging |
Het |
| Gnl2 |
T |
G |
4: 124,948,022 (GRCm39) |
|
probably null |
Het |
| Gpr162 |
A |
G |
6: 124,838,204 (GRCm39) |
S149P |
probably damaging |
Het |
| Il2ra |
T |
A |
2: 11,652,790 (GRCm39) |
|
probably benign |
Het |
| Kics2 |
T |
C |
10: 121,586,810 (GRCm39) |
L375P |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,835,039 (GRCm39) |
I258T |
probably benign |
Het |
| Mbnl1 |
T |
C |
3: 60,523,165 (GRCm39) |
L328S |
probably damaging |
Het |
| Mboat2 |
A |
G |
12: 25,001,430 (GRCm39) |
D277G |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,014,005 (GRCm39) |
I364V |
probably benign |
Het |
| Myh7 |
G |
A |
14: 55,226,315 (GRCm39) |
R442C |
probably damaging |
Het |
| Nin |
A |
G |
12: 70,090,511 (GRCm39) |
L968P |
probably damaging |
Het |
| Or1l8 |
T |
C |
2: 36,817,404 (GRCm39) |
T241A |
probably damaging |
Het |
| Or5w14 |
A |
T |
2: 87,542,188 (GRCm39) |
Y21N |
probably benign |
Het |
| Or8g53 |
T |
G |
9: 39,683,916 (GRCm39) |
Y60S |
probably damaging |
Het |
| Per1 |
C |
T |
11: 68,993,730 (GRCm39) |
P403S |
probably damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,661,730 (GRCm39) |
I723V |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,153,943 (GRCm38) |
T555A |
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,703,194 (GRCm39) |
M187I |
probably benign |
Het |
| Sec31a |
A |
G |
5: 100,517,453 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
C |
T |
2: 119,889,898 (GRCm39) |
|
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
| Stx1b |
G |
A |
7: 127,407,077 (GRCm39) |
T206I |
possibly damaging |
Het |
| Tsc22d4 |
T |
A |
5: 137,757,351 (GRCm39) |
M35K |
probably damaging |
Het |
| Zc2hc1c |
A |
G |
12: 85,343,218 (GRCm39) |
K452E |
probably damaging |
Het |
| Zfp386 |
A |
G |
12: 116,024,133 (GRCm39) |
N582S |
possibly damaging |
Het |
| Zfp457 |
A |
G |
13: 67,440,976 (GRCm39) |
V437A |
possibly damaging |
Het |
| Zfp599 |
T |
C |
9: 22,160,947 (GRCm39) |
Y406C |
probably benign |
Het |
| Zfyve26 |
G |
A |
12: 79,315,501 (GRCm39) |
S1325F |
probably 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 |
|
R2178:Kmt5b
|
UTSW |
19 |
3,865,372 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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 |
|
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'- CTCTGATATGTAGTGGGAAGGC -3'
(R):5'- TTTACGTCTCAAGTCACACTGGG -3'
Sequencing Primer
(F):5'- CAAAATAGAATTACTGGTGGGT -3'
(R):5'- ATCTGAAGATAATGGCCATTCCAAAC -3'
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| Posted On |
2017-10-10 |
Incidental Mutation