Incidental Mutation 'R9338:Msh4'
| ID |
707292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh4
|
| Ensembl Gene |
ENSMUSG00000005493 |
| Gene Name |
mutS homolog 4 |
| Synonyms |
mMsh4, 4930485C04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.562)
|
| Stock # |
R9338 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
153562783-153611495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 153573444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 737
(I737V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005630]
[ENSMUST00000188338]
[ENSMUST00000190449]
|
| AlphaFold |
Q99MT2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005630
AA Change: I737V
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: I737V
| 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 |
possibly damaging
Transcript: ENSMUST00000188338
AA Change: I649V
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: I649V
| 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 |
possibly damaging
Transcript: ENSMUST00000190449
AA Change: I543V
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: I543V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 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 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Adam30 |
G |
A |
3: 98,070,129 (GRCm39) |
G654D |
probably damaging |
Het |
| Cct3 |
T |
C |
3: 88,225,706 (GRCm39) |
V343A |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,266,204 (GRCm39) |
T358A |
unknown |
Het |
| Cox6a2 |
T |
C |
7: 127,804,914 (GRCm39) |
Y94C |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,386,703 (GRCm39) |
I1521F |
probably damaging |
Het |
| Dclk3 |
C |
A |
9: 111,268,373 (GRCm39) |
A14E |
unknown |
Het |
| Dlgap2 |
T |
C |
8: 14,229,683 (GRCm39) |
|
probably null |
Het |
| Dop1b |
C |
A |
16: 93,600,448 (GRCm39) |
Q2042K |
probably damaging |
Het |
| Ech1 |
A |
G |
7: 28,525,427 (GRCm39) |
S61G |
probably null |
Het |
| Ext2 |
T |
A |
2: 93,526,603 (GRCm39) |
N678Y |
probably damaging |
Het |
| Fgfr2 |
G |
T |
7: 129,863,561 (GRCm39) |
C28* |
probably null |
Het |
| Gon4l |
C |
A |
3: 88,809,019 (GRCm39) |
D1754E |
probably benign |
Het |
| Hivep2 |
T |
A |
10: 14,004,693 (GRCm39) |
C430* |
probably null |
Het |
| Htr7 |
C |
T |
19: 35,941,780 (GRCm39) |
|
probably null |
Het |
| Idh3b |
A |
T |
2: 130,122,392 (GRCm39) |
M331K |
probably damaging |
Het |
| Ighv2-7 |
A |
T |
12: 113,771,118 (GRCm39) |
F56I |
probably benign |
Het |
| Inpp5k |
C |
T |
11: 75,536,411 (GRCm39) |
H330Y |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,744,058 (GRCm39) |
Y1385H |
probably damaging |
Het |
| Mad1l1 |
A |
G |
5: 140,074,561 (GRCm39) |
L543P |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,666,536 (GRCm39) |
H158L |
probably benign |
Het |
| Mpp2 |
T |
A |
11: 101,951,249 (GRCm39) |
T511S |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,320,245 (GRCm39) |
E178G |
possibly damaging |
Het |
| Myo15b |
T |
C |
11: 115,762,238 (GRCm39) |
L1186P |
|
Het |
| Nckap1l |
A |
G |
15: 103,379,991 (GRCm39) |
T346A |
probably benign |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Npy5r |
T |
C |
8: 67,134,658 (GRCm39) |
N45S |
probably benign |
Het |
| Or6c202 |
T |
C |
10: 128,996,610 (GRCm39) |
N81S |
probably benign |
Het |
| Pde6a |
G |
A |
18: 61,354,109 (GRCm39) |
A145T |
probably damaging |
Het |
| Pfkp |
A |
C |
13: 6,634,724 (GRCm39) |
S678A |
probably damaging |
Het |
| Phxr2 |
A |
G |
10: 98,962,043 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
C |
A |
16: 17,135,227 (GRCm39) |
L942F |
|
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pla2g4e |
T |
A |
2: 120,019,914 (GRCm39) |
T179S |
probably benign |
Het |
| Popdc2 |
G |
A |
16: 38,194,509 (GRCm39) |
C310Y |
probably benign |
Het |
| Ppip5k1 |
C |
T |
2: 121,153,827 (GRCm39) |
R113Q |
|
Het |
| Prmt7 |
C |
T |
8: 106,961,665 (GRCm39) |
R193C |
unknown |
Het |
| Prph |
G |
C |
15: 98,955,359 (GRCm39) |
R442P |
probably damaging |
Het |
| Prrc2b |
A |
G |
2: 32,098,779 (GRCm39) |
Y697C |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 67,069,143 (GRCm39) |
R962S |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,529,300 (GRCm39) |
S654P |
unknown |
Het |
| Reln |
A |
G |
5: 22,202,937 (GRCm39) |
F1288L |
probably damaging |
Het |
| Rhot1 |
T |
A |
11: 80,145,568 (GRCm39) |
I553N |
probably benign |
Het |
| Rnf168 |
T |
C |
16: 32,110,801 (GRCm39) |
|
probably null |
Het |
| Slamf6 |
T |
A |
1: 171,747,157 (GRCm39) |
|
probably benign |
Het |
| Srgap1 |
CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC |
CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC |
10: 121,689,458 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
C |
T |
18: 14,954,555 (GRCm39) |
P544S |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,427,377 (GRCm39) |
V195A |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,942,399 (GRCm39) |
M59V |
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,727,019 (GRCm39) |
S1184P |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,727,925 (GRCm39) |
S549G |
probably benign |
Het |
| Unc5d |
T |
A |
8: 29,709,471 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,308,489 (GRCm39) |
|
probably null |
Het |
| Usp45 |
T |
C |
4: 21,784,755 (GRCm39) |
V147A |
probably damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,460,994 (GRCm39) |
N773K |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,858,977 (GRCm39) |
N2809I |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 20,032,078 (GRCm39) |
S984R |
possibly damaging |
Het |
| Yeats2 |
T |
A |
16: 20,041,533 (GRCm39) |
L1141Q |
probably damaging |
Het |
| Zfp58 |
T |
A |
13: 67,639,394 (GRCm39) |
T366S |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGCTCTCAGGAACTAAAGTG -3'
(R):5'- CACAACCTTGTATGGCAGGTG -3'
Sequencing Primer
(F):5'- GCACCAGCAAGTCTGAATGC -3'
(R):5'- ACTCGCTTCCCCTGTGAGAAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation