Incidental Mutation 'R5766:Msh4'
| ID |
501500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh4
|
| Ensembl Gene |
ENSMUSG00000005493 |
| Gene Name |
mutS homolog 4 |
| Synonyms |
mMsh4, 4930485C04Rik |
| MMRRC Submission |
044424-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.507)
|
| Stock # |
R5766 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
153562783-153611495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 153573477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 726
(S726P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005630]
[ENSMUST00000188338]
[ENSMUST00000190449]
|
| AlphaFold |
Q99MT2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005630
AA Change: S726P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: S726P
| 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 damaging
Transcript: ENSMUST00000188338
AA Change: S638P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: S638P
| 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 damaging
Transcript: ENSMUST00000190449
AA Change: S532P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: S532P
| 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: ENSMUST00000191504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191606
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,182,439 (GRCm39) |
V343A |
probably damaging |
Het |
| AI429214 |
TCCCTGATGAAC |
TC |
8: 37,461,383 (GRCm39) |
|
probably null |
Het |
| Arid2 |
A |
G |
15: 96,270,086 (GRCm39) |
T1400A |
probably benign |
Het |
| Arrdc1 |
G |
A |
2: 24,816,417 (GRCm39) |
T184I |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,406,740 (GRCm39) |
F1876L |
probably damaging |
Het |
| Calhm1 |
C |
T |
19: 47,132,142 (GRCm39) |
V158I |
probably benign |
Het |
| Caly |
T |
C |
7: 139,650,310 (GRCm39) |
K211E |
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,954,174 (GRCm39) |
L1677P |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,381,032 (GRCm39) |
V1388A |
possibly damaging |
Het |
| Dgkd |
C |
T |
1: 87,808,171 (GRCm39) |
R80* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,577,445 (GRCm39) |
I2072N |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,909,235 (GRCm39) |
I1020M |
probably benign |
Het |
| Drc3 |
T |
C |
11: 60,284,647 (GRCm39) |
V484A |
probably benign |
Het |
| Efcab8 |
A |
G |
2: 153,622,912 (GRCm39) |
D27G |
possibly damaging |
Het |
| Fat4 |
G |
A |
3: 38,943,617 (GRCm39) |
G837R |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,836,754 (GRCm39) |
W224* |
probably null |
Het |
| Fgb |
A |
T |
3: 82,953,483 (GRCm39) |
C96S |
probably damaging |
Het |
| Flt4 |
G |
C |
11: 49,517,513 (GRCm39) |
W278C |
possibly damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,991,466 (GRCm39) |
V327A |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,879,548 (GRCm39) |
Y2455F |
possibly damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm13872 |
T |
A |
2: 102,568,254 (GRCm39) |
I88N |
probably damaging |
Het |
| Hoxa6 |
A |
G |
6: 52,185,394 (GRCm39) |
S71P |
probably benign |
Het |
| Hunk |
T |
A |
16: 90,250,627 (GRCm39) |
C148S |
probably damaging |
Het |
| Ighv1-18 |
A |
C |
12: 114,646,527 (GRCm39) |
S26A |
probably damaging |
Het |
| Impg2 |
T |
G |
16: 56,080,183 (GRCm39) |
D553E |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,757,900 (GRCm39) |
I266T |
probably benign |
Het |
| Kpna3 |
G |
T |
14: 61,640,463 (GRCm39) |
T33K |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,349,930 (GRCm39) |
D622G |
probably damaging |
Het |
| Lamp3 |
T |
C |
16: 19,520,067 (GRCm39) |
T39A |
probably damaging |
Het |
| Mnt |
C |
T |
11: 74,733,904 (GRCm39) |
|
probably benign |
Het |
| Or13a25 |
T |
A |
7: 140,247,266 (GRCm39) |
V22E |
probably benign |
Het |
| Pah |
A |
C |
10: 87,403,209 (GRCm39) |
K195Q |
probably damaging |
Het |
| Pdc |
T |
A |
1: 150,209,251 (GRCm39) |
*245K |
probably null |
Het |
| Pdzd8 |
A |
T |
19: 59,288,972 (GRCm39) |
H809Q |
possibly damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,769,140 (GRCm39) |
I467L |
probably benign |
Het |
| Ppp2ca |
A |
G |
11: 52,004,014 (GRCm39) |
D57G |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,867,551 (GRCm39) |
M1K |
probably null |
Het |
| Rfx2 |
T |
A |
17: 57,110,587 (GRCm39) |
D133V |
probably benign |
Het |
| Scfd2 |
A |
T |
5: 74,623,312 (GRCm39) |
L407Q |
probably damaging |
Het |
| Scp2d1 |
T |
A |
2: 144,665,957 (GRCm39) |
S99T |
possibly damaging |
Het |
| Sec63 |
A |
T |
10: 42,677,677 (GRCm39) |
N261I |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,956,390 (GRCm39) |
Y216C |
probably damaging |
Het |
| Son |
T |
A |
16: 91,461,875 (GRCm39) |
|
probably benign |
Het |
| Syce1 |
T |
C |
7: 140,357,894 (GRCm39) |
E285G |
probably damaging |
Het |
| Taar7a |
G |
T |
10: 23,869,260 (GRCm39) |
S40R |
probably benign |
Het |
| Ube3a |
A |
T |
7: 58,925,807 (GRCm39) |
D216V |
possibly damaging |
Het |
| Vgll2 |
A |
G |
10: 51,903,659 (GRCm39) |
D174G |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,139 (GRCm39) |
T149S |
possibly damaging |
Het |
| Zbtb39 |
G |
T |
10: 127,578,557 (GRCm39) |
C377F |
probably damaging |
Het |
| Zfp820 |
T |
A |
17: 22,038,983 (GRCm39) |
N115I |
probably damaging |
Het |
| Zfp948 |
T |
C |
17: 21,805,078 (GRCm39) |
S23P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGGCTCTCAGGAACTAAAGTG -3'
(R):5'- CAACCTTGTATGGCAGGTGC -3'
Sequencing Primer
(F):5'- GCACCAGCAAGTCTGAATGC -3'
(R):5'- CCACAGGCACTCGCTTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation