Incidental Mutation 'R0057:Msh4'
| ID |
17194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh4
|
| Ensembl Gene |
ENSMUSG00000005493 |
| Gene Name |
mutS homolog 4 |
| Synonyms |
mMsh4, 4930485C04Rik |
| MMRRC Submission |
038351-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.507)
|
| Stock # |
R0057 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
153562783-153611495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 153575318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 686
(A686T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005630]
[ENSMUST00000188338]
[ENSMUST00000190449]
|
| AlphaFold |
Q99MT2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005630
AA Change: A686T
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: A686T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
107 |
N/A |
INTRINSIC |
|
Pfam:MutS_II
|
177 |
321 |
2.3e-20 |
PFAM |
|
MUTSd
|
352 |
679 |
3.77e-37 |
SMART |
|
MUTSac
|
695 |
888 |
1.6e-81 |
SMART |
|
Blast:MUTSac
|
912 |
956 |
1e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186220
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188338
AA Change: A598T
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: A598T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MutS_II
|
89 |
233 |
5.3e-19 |
PFAM |
|
MUTSd
|
264 |
591 |
9.4e-40 |
SMART |
|
MUTSac
|
607 |
800 |
4.2e-84 |
SMART |
|
Blast:MUTSac
|
808 |
866 |
4e-17 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189189
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190449
AA Change: A492T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: A492T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MutS_II
|
1 |
127 |
3.3e-15 |
PFAM |
|
MUTSd
|
158 |
485 |
9.4e-40 |
SMART |
|
MUTSac
|
501 |
694 |
4.2e-84 |
SMART |
|
Blast:MUTSac
|
702 |
760 |
5e-17 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191504
|
| Meta Mutation Damage Score |
0.1241 |
| Coding Region Coverage |
- 1x: 90.1%
- 3x: 87.8%
- 10x: 82.7%
- 20x: 75.7%
|
| Validation Efficiency |
89% (65/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit male and female sterility associated with failure to undergo pairing during meiosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
T |
11: 109,832,385 (GRCm39) |
F1309L |
possibly damaging |
Het |
| Abcc6 |
C |
T |
7: 45,669,567 (GRCm39) |
A163T |
probably benign |
Het |
| Adam23 |
T |
A |
1: 63,610,078 (GRCm39) |
H693Q |
probably damaging |
Het |
| Afg3l2 |
A |
G |
18: 67,556,156 (GRCm39) |
F392L |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,268,724 (GRCm39) |
T1055S |
probably benign |
Het |
| Ap5z1 |
T |
C |
5: 142,456,144 (GRCm39) |
|
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,338,529 (GRCm39) |
|
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,586,141 (GRCm39) |
|
probably benign |
Het |
| Caskin1 |
A |
G |
17: 24,723,870 (GRCm39) |
N886S |
probably damaging |
Het |
| Celsr1 |
A |
C |
15: 85,914,963 (GRCm39) |
S1003R |
probably benign |
Het |
| Ctse |
G |
T |
1: 131,591,109 (GRCm39) |
D97Y |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,285,136 (GRCm39) |
I505F |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,806,767 (GRCm39) |
V490A |
probably benign |
Het |
| Dscam |
A |
C |
16: 96,474,936 (GRCm39) |
W1209G |
probably damaging |
Het |
| Emc8 |
A |
G |
8: 121,385,822 (GRCm39) |
|
probably benign |
Het |
| Entpd6 |
A |
G |
2: 150,600,748 (GRCm39) |
K152R |
probably null |
Het |
| Eps8l2 |
C |
T |
7: 140,922,884 (GRCm39) |
T49I |
probably benign |
Het |
| Fcsk |
C |
T |
8: 111,620,400 (GRCm39) |
|
probably benign |
Het |
| Gm12251 |
C |
A |
11: 58,283,867 (GRCm39) |
|
probably benign |
Het |
| Gna11 |
A |
G |
10: 81,366,774 (GRCm39) |
M312T |
probably benign |
Het |
| Hacd2 |
T |
A |
16: 34,895,997 (GRCm39) |
V105D |
probably damaging |
Het |
| Il17a |
T |
A |
1: 20,803,881 (GRCm39) |
I92N |
probably damaging |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Irak4 |
A |
C |
15: 94,451,753 (GRCm39) |
R115S |
probably benign |
Het |
| Jarid2 |
C |
T |
13: 45,038,332 (GRCm39) |
H77Y |
probably damaging |
Het |
| Kcnk6 |
A |
T |
7: 28,925,088 (GRCm39) |
L176Q |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,276,217 (GRCm39) |
|
probably benign |
Het |
| Kremen2 |
A |
C |
17: 23,962,202 (GRCm39) |
I210S |
possibly damaging |
Het |
| Ldah |
T |
C |
12: 8,288,432 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
A |
T |
11: 78,862,262 (GRCm39) |
|
probably benign |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mfsd4b4 |
T |
A |
10: 39,891,097 (GRCm38) |
|
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,389,578 (GRCm39) |
N3411D |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,892,611 (GRCm39) |
|
probably null |
Het |
| Nmbr |
A |
G |
10: 14,636,268 (GRCm39) |
N79S |
probably damaging |
Het |
| Npsr1 |
A |
T |
9: 24,211,723 (GRCm39) |
I84F |
probably damaging |
Het |
| Or52h1 |
G |
T |
7: 103,829,536 (GRCm39) |
H26Q |
probably benign |
Het |
| Or5m10b |
C |
A |
2: 85,699,597 (GRCm39) |
Y220* |
probably null |
Het |
| Or6z5 |
T |
C |
7: 6,477,679 (GRCm39) |
L190P |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,328,509 (GRCm39) |
Y328C |
probably damaging |
Het |
| Rasal3 |
A |
G |
17: 32,610,357 (GRCm39) |
S977P |
probably benign |
Het |
| Ros1 |
C |
T |
10: 52,056,287 (GRCm39) |
V68I |
probably benign |
Het |
| Shmt2 |
G |
A |
10: 127,356,917 (GRCm39) |
T31M |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Snrnp200 |
C |
G |
2: 127,079,827 (GRCm39) |
L1899V |
probably damaging |
Het |
| Snrnp48 |
T |
A |
13: 38,400,356 (GRCm39) |
C154* |
probably null |
Het |
| Tdrd6 |
G |
A |
17: 43,928,052 (GRCm39) |
|
probably benign |
Het |
| Tmem175 |
C |
T |
5: 108,787,428 (GRCm39) |
H92Y |
probably damaging |
Het |
| Tom1l1 |
G |
A |
11: 90,575,975 (GRCm39) |
|
probably benign |
Het |
| Top3a |
C |
T |
11: 60,631,510 (GRCm39) |
A951T |
probably benign |
Het |
| Tram2 |
C |
T |
1: 21,076,378 (GRCm39) |
R184Q |
probably damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,482,406 (GRCm39) |
E528G |
possibly damaging |
Het |
| Vwa7 |
G |
A |
17: 35,243,523 (GRCm39) |
S710N |
possibly damaging |
Het |
| Zfa-ps |
A |
T |
10: 52,421,202 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp770 |
T |
A |
2: 114,027,713 (GRCm39) |
R119* |
probably null |
Het |
|
| Other mutations in Msh4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00862:Msh4
|
APN |
3 |
153,589,372 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01098:Msh4
|
APN |
3 |
153,583,619 (GRCm39) |
splice site |
probably benign |
|
|
IGL01609:Msh4
|
APN |
3 |
153,603,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01785:Msh4
|
APN |
3 |
153,563,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01939:Msh4
|
APN |
3 |
153,563,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02022:Msh4
|
APN |
3 |
153,592,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02209:Msh4
|
APN |
3 |
153,594,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02224:Msh4
|
APN |
3 |
153,595,822 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02240:Msh4
|
APN |
3 |
153,579,311 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02493:Msh4
|
APN |
3 |
153,583,545 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02576:Msh4
|
APN |
3 |
153,573,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02616:Msh4
|
APN |
3 |
153,563,160 (GRCm39) |
missense |
probably benign |
|
|
IGL02812:Msh4
|
APN |
3 |
153,607,037 (GRCm39) |
splice site |
probably benign |
|
|
IGL02888:Msh4
|
APN |
3 |
153,602,550 (GRCm39) |
nonsense |
probably null |
|
|
IGL02992:Msh4
|
APN |
3 |
153,577,962 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03191:Msh4
|
APN |
3 |
153,575,245 (GRCm39) |
missense |
probably damaging |
0.97 |
|
P0021:Msh4
|
UTSW |
3 |
153,594,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Msh4
|
UTSW |
3 |
153,575,318 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0368:Msh4
|
UTSW |
3 |
153,594,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:Msh4
|
UTSW |
3 |
153,602,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0631:Msh4
|
UTSW |
3 |
153,572,057 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0632:Msh4
|
UTSW |
3 |
153,602,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0677:Msh4
|
UTSW |
3 |
153,585,004 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0909:Msh4
|
UTSW |
3 |
153,569,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1081:Msh4
|
UTSW |
3 |
153,577,995 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1463:Msh4
|
UTSW |
3 |
153,563,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1476:Msh4
|
UTSW |
3 |
153,569,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Msh4
|
UTSW |
3 |
153,582,357 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1733:Msh4
|
UTSW |
3 |
153,573,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1859:Msh4
|
UTSW |
3 |
153,611,517 (GRCm39) |
missense |
probably benign |
|
|
R2168:Msh4
|
UTSW |
3 |
153,573,472 (GRCm39) |
nonsense |
probably null |
|
|
R2378:Msh4
|
UTSW |
3 |
153,569,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2991:Msh4
|
UTSW |
3 |
153,611,497 (GRCm39) |
missense |
probably benign |
|
|
R3025:Msh4
|
UTSW |
3 |
153,569,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Msh4
|
UTSW |
3 |
153,577,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4757:Msh4
|
UTSW |
3 |
153,585,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5205:Msh4
|
UTSW |
3 |
153,572,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5285:Msh4
|
UTSW |
3 |
153,579,350 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5766:Msh4
|
UTSW |
3 |
153,573,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5777:Msh4
|
UTSW |
3 |
153,569,076 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5888:Msh4
|
UTSW |
3 |
153,573,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7384:Msh4
|
UTSW |
3 |
153,594,385 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7408:Msh4
|
UTSW |
3 |
153,582,382 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7487:Msh4
|
UTSW |
3 |
153,569,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7503:Msh4
|
UTSW |
3 |
153,573,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7726:Msh4
|
UTSW |
3 |
153,571,957 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7990:Msh4
|
UTSW |
3 |
153,602,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Msh4
|
UTSW |
3 |
153,583,545 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8805:Msh4
|
UTSW |
3 |
153,563,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8814:Msh4
|
UTSW |
3 |
153,577,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8861:Msh4
|
UTSW |
3 |
153,607,105 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8970:Msh4
|
UTSW |
3 |
153,575,369 (GRCm39) |
nonsense |
probably null |
|
|
R9010:Msh4
|
UTSW |
3 |
153,595,819 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9338:Msh4
|
UTSW |
3 |
153,573,444 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9598:Msh4
|
UTSW |
3 |
153,607,148 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9780:Msh4
|
UTSW |
3 |
153,582,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Msh4
|
UTSW |
3 |
153,607,080 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Msh4
|
UTSW |
3 |
153,585,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-01-20 |
Incidental Mutation