Incidental Mutation 'R8336:Kmt5b'
| ID |
644646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt5b
|
| Ensembl Gene |
ENSMUSG00000045098 |
| Gene Name |
lysine methyltransferase 5B |
| Synonyms |
Suv420h1, C630029K18Rik, Suv4-20h1 |
| MMRRC Submission |
067729-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8336 (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 C
at 3865531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 865
(I865T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113972]
[ENSMUST00000113973]
[ENSMUST00000113974]
[ENSMUST00000113977]
[ENSMUST00000176262]
|
| AlphaFold |
Q3U8K7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113972
AA Change: I865T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109605
Gene: ENSMUSG00000045098
AA Change: I865T
| 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: I865T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109606
Gene: ENSMUSG00000045098
AA Change: I865T
| 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: I842T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109607
Gene: ENSMUSG00000045098
AA Change: I842T
| 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: I842T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109610
Gene: ENSMUSG00000045098
AA Change: I842T
| 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: ENSMUST00000176262
AA Change: I842T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135563
Gene: ENSMUSG00000045098
AA Change: I842T
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
T |
C |
14: 64,223,545 (GRCm39) |
K77R |
probably benign |
Het |
| Acta1 |
C |
T |
8: 124,619,310 (GRCm39) |
E261K |
possibly damaging |
Het |
| Adamts19 |
A |
T |
18: 59,140,444 (GRCm39) |
I848L |
possibly damaging |
Het |
| Adck1 |
C |
A |
12: 88,335,249 (GRCm39) |
T45K |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,566,495 (GRCm39) |
F291S |
|
Het |
| BC048671 |
T |
C |
6: 90,279,849 (GRCm39) |
V24A |
probably benign |
Het |
| Brsk2 |
C |
T |
7: 141,538,211 (GRCm39) |
A119V |
probably damaging |
Het |
| Cacnb1 |
A |
G |
11: 97,894,119 (GRCm39) |
Y468H |
probably benign |
Het |
| Cep89 |
A |
T |
7: 35,127,141 (GRCm39) |
K501* |
probably null |
Het |
| Ces2a |
T |
A |
8: 105,465,665 (GRCm39) |
F306I |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,952,528 (GRCm39) |
I457F |
possibly damaging |
Het |
| Cts7 |
A |
G |
13: 61,504,723 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
C |
A |
14: 26,432,220 (GRCm39) |
T444K |
probably benign |
Het |
| Dusp5 |
T |
C |
19: 53,529,406 (GRCm39) |
S270P |
probably damaging |
Het |
| Eppk1 |
T |
TCAC |
15: 75,992,152 (GRCm39) |
|
probably null |
Het |
| Esam |
T |
A |
9: 37,448,362 (GRCm39) |
I267K |
probably benign |
Het |
| Fastkd1 |
A |
G |
2: 69,542,489 (GRCm39) |
V106A |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,099 (GRCm39) |
T5611A |
possibly damaging |
Het |
| Gcc2 |
A |
G |
10: 58,108,189 (GRCm39) |
D933G |
probably damaging |
Het |
| Gm16506 |
T |
A |
14: 43,964,825 (GRCm39) |
H39L |
|
Het |
| Gm5145 |
A |
T |
17: 20,790,687 (GRCm39) |
N22Y |
probably damaging |
Het |
| Gm6465 |
A |
T |
5: 11,896,780 (GRCm39) |
R50W |
probably damaging |
Het |
| Hivep1 |
C |
A |
13: 42,309,405 (GRCm39) |
D548E |
probably benign |
Het |
| Hnrnpl |
C |
A |
7: 28,513,462 (GRCm39) |
S178R |
possibly damaging |
Het |
| Hsp90b1 |
A |
G |
10: 86,526,968 (GRCm39) |
*803Q |
probably null |
Het |
| Kdm5a |
A |
G |
6: 120,396,407 (GRCm39) |
N1088S |
probably benign |
Het |
| Klk1b11 |
C |
T |
7: 43,425,865 (GRCm39) |
|
probably benign |
Het |
| Map3k10 |
C |
A |
7: 27,372,884 (GRCm39) |
R189L |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,603,430 (GRCm39) |
S1040P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,163,902 (GRCm39) |
S2019G |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,314,815 (GRCm39) |
V545A |
possibly damaging |
Het |
| Nkd2 |
G |
T |
13: 73,969,192 (GRCm39) |
P425T |
probably damaging |
Het |
| Or5h26 |
T |
C |
16: 58,987,918 (GRCm39) |
Y196C |
possibly damaging |
Het |
| Ostm1 |
A |
G |
10: 42,572,334 (GRCm39) |
Y239C |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,874,204 (GRCm39) |
D203G |
probably benign |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,942 (GRCm39) |
Y690* |
probably null |
Het |
| Pla2r1 |
C |
A |
2: 60,253,027 (GRCm39) |
V1355F |
possibly damaging |
Het |
| Pms1 |
C |
T |
1: 53,245,985 (GRCm39) |
S518N |
probably benign |
Het |
| Rab44 |
A |
T |
17: 29,367,249 (GRCm39) |
*726C |
probably null |
Het |
| Rin1 |
A |
T |
19: 5,105,013 (GRCm39) |
H691L |
possibly damaging |
Het |
| Slc30a9 |
T |
A |
5: 67,473,058 (GRCm39) |
Y47* |
probably null |
Het |
| Sp9 |
T |
A |
2: 73,104,796 (GRCm39) |
V450D |
possibly damaging |
Het |
| Sstr3 |
T |
C |
15: 78,424,693 (GRCm39) |
N18S |
probably damaging |
Het |
| Sugct |
T |
A |
13: 17,032,504 (GRCm39) |
Y416F |
probably benign |
Het |
| Tcf3 |
T |
C |
10: 80,257,000 (GRCm39) |
T75A |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,746,808 (GRCm39) |
V999A |
probably damaging |
Het |
| Tfap2c |
T |
A |
2: 172,399,112 (GRCm39) |
L453* |
probably null |
Het |
| Trip12 |
A |
T |
1: 84,743,762 (GRCm39) |
M515K |
probably benign |
Het |
| Vstm2a |
G |
A |
11: 16,207,801 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- AAGCTCAGTAACGGGGTCAG -3'
(R):5'- AGGATGCTGTACACTTTCTACAG -3'
Sequencing Primer
(F):5'- AGCTCAAGATCCAGCTCAAGCG -3'
(R):5'- GTATTATGCCTACAGGTGAAGAGACC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation