Incidental Mutation 'R9199:Kmt5b'
ID |
698131 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kmt5b
|
Ensembl Gene |
ENSMUSG00000045098 |
Gene Name |
lysine methyltransferase 5B |
Synonyms |
Suv420h1, C630029K18Rik, Suv4-20h1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9199 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
3817421-3868303 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3865525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 863
(D863G)
|
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: D863G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109605 Gene: ENSMUSG00000045098 AA Change: D863G
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: D863G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109606 Gene: ENSMUSG00000045098 AA Change: D863G
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: D840G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109607 Gene: ENSMUSG00000045098 AA Change: D840G
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: D840G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109610 Gene: ENSMUSG00000045098 AA Change: D840G
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: D840G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135563 Gene: ENSMUSG00000045098 AA Change: D840G
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 |
|
Meta Mutation Damage Score |
0.1428 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (51/51) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110057P08Rik |
A |
T |
16: 88,971,654 (GRCm39) |
|
probably benign |
Het |
Abca9 |
A |
T |
11: 110,056,770 (GRCm39) |
C17S |
possibly damaging |
Het |
Acan |
T |
G |
7: 78,736,057 (GRCm39) |
F168V |
probably damaging |
Het |
Acp7 |
A |
G |
7: 28,316,591 (GRCm39) |
L128P |
probably benign |
Het |
Agtpbp1 |
C |
A |
13: 59,613,808 (GRCm39) |
M1044I |
probably benign |
Het |
Arhgef3 |
A |
G |
14: 27,122,244 (GRCm39) |
Q361R |
possibly damaging |
Het |
Brdt |
A |
T |
5: 107,498,029 (GRCm39) |
R235* |
probably null |
Het |
Cacna1d |
A |
G |
14: 29,764,893 (GRCm39) |
S2013P |
probably benign |
Het |
Cacna2d4 |
T |
A |
6: 119,244,787 (GRCm39) |
D274E |
probably benign |
Het |
Ccdc24 |
T |
A |
4: 117,728,313 (GRCm39) |
I144F |
probably null |
Het |
Ceacam5 |
C |
G |
7: 17,479,350 (GRCm39) |
L156V |
probably benign |
Het |
Cenpn |
G |
A |
8: 117,664,014 (GRCm39) |
|
probably null |
Het |
Cfap69 |
A |
T |
5: 5,668,952 (GRCm39) |
V385E |
possibly damaging |
Het |
Cldnd1 |
A |
G |
16: 58,553,070 (GRCm39) |
H177R |
probably damaging |
Het |
Cr1l |
A |
T |
1: 194,786,177 (GRCm39) |
V439D |
probably benign |
Het |
Cul2 |
A |
G |
18: 3,423,577 (GRCm39) |
N329S |
probably benign |
Het |
Cyp2c66 |
A |
G |
19: 39,130,800 (GRCm39) |
K138R |
probably benign |
Het |
Ddx46 |
G |
A |
13: 55,825,342 (GRCm39) |
E996K |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,478,566 (GRCm39) |
K1444E |
possibly damaging |
Het |
Evl |
G |
A |
12: 108,647,814 (GRCm39) |
|
probably null |
Het |
Flnc |
C |
T |
6: 29,441,490 (GRCm39) |
T424I |
probably benign |
Het |
Gadd45gip1 |
T |
A |
8: 85,559,128 (GRCm39) |
V70E |
probably damaging |
Het |
Garem2 |
A |
G |
5: 30,319,471 (GRCm39) |
H311R |
probably damaging |
Het |
Gm32742 |
G |
C |
9: 51,060,607 (GRCm39) |
H899D |
possibly damaging |
Het |
Gm5148 |
C |
T |
3: 37,768,989 (GRCm39) |
C77Y |
probably benign |
Het |
Gm5460 |
A |
G |
14: 33,758,393 (GRCm39) |
D141G |
possibly damaging |
Het |
Kcnj8 |
T |
C |
6: 142,512,118 (GRCm39) |
N163S |
probably damaging |
Het |
Klri1 |
A |
T |
6: 129,674,264 (GRCm39) |
*249R |
probably null |
Het |
Ltbp2 |
G |
T |
12: 84,832,750 (GRCm39) |
T1538K |
probably benign |
Het |
Or51ah3 |
G |
A |
7: 103,210,143 (GRCm39) |
G153D |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,436 (GRCm39) |
H243R |
probably damaging |
Het |
Pheta2 |
A |
T |
15: 82,227,877 (GRCm39) |
E132V |
probably damaging |
Het |
Pramel16 |
A |
G |
4: 143,675,656 (GRCm39) |
L390P |
probably damaging |
Het |
Ptchd3 |
A |
G |
11: 121,721,741 (GRCm39) |
I205V |
probably benign |
Het |
Rab8b |
G |
A |
9: 66,758,641 (GRCm39) |
A152V |
probably damaging |
Het |
Rasef |
T |
C |
4: 73,658,625 (GRCm39) |
D343G |
possibly damaging |
Het |
Rcan2 |
G |
A |
17: 44,264,423 (GRCm39) |
V28I |
probably benign |
Het |
Sec1 |
G |
A |
7: 45,328,009 (GRCm39) |
T346M |
probably benign |
Het |
Sgk1 |
T |
A |
10: 21,758,558 (GRCm39) |
N7K |
probably damaging |
Het |
Slc39a12 |
A |
T |
2: 14,394,321 (GRCm39) |
I64F |
possibly damaging |
Het |
Spock3 |
A |
G |
8: 63,798,764 (GRCm39) |
T259A |
probably damaging |
Het |
Sypl1 |
A |
T |
12: 33,016,463 (GRCm39) |
|
probably benign |
Het |
Teddm2 |
G |
T |
1: 153,726,767 (GRCm39) |
Q36K |
probably damaging |
Het |
Tlr1 |
A |
G |
5: 65,083,534 (GRCm39) |
S348P |
possibly damaging |
Het |
Ttll12 |
A |
G |
15: 83,466,559 (GRCm39) |
F336S |
probably damaging |
Het |
Ttll8 |
G |
A |
15: 88,798,818 (GRCm39) |
P639L |
probably benign |
Het |
Usp24 |
T |
C |
4: 106,244,681 (GRCm39) |
V1212A |
probably damaging |
Het |
Vcan |
C |
A |
13: 89,838,615 (GRCm39) |
G2310* |
probably null |
Het |
Vmn2r104 |
A |
T |
17: 20,262,097 (GRCm39) |
N344K |
probably damaging |
Het |
Zfp281 |
A |
G |
1: 136,553,643 (GRCm39) |
N207S |
probably benign |
Het |
Zfp534 |
T |
A |
4: 147,760,439 (GRCm39) |
M77L |
probably benign |
Het |
Zfp819 |
G |
A |
7: 43,267,203 (GRCm39) |
S562N |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,944,623 (GRCm39) |
C188Y |
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 |
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 |
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 |
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'- TTGCCAAGCTCAGTAACGG -3'
(R):5'- AGGATGCTGTACACTTTCTACAG -3'
Sequencing Primer
(F):5'- CCAAGCTCAGTAACGGGGTCAG -3'
(R):5'- GTATTATGCCTACAGGTGAAGAGACC -3'
|
Posted On |
2022-02-07 |