Incidental Mutation 'R0377:Msh4'
| ID |
30788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh4
|
| Ensembl Gene |
ENSMUSG00000005493 |
| Gene Name |
mutS homolog 4 |
| Synonyms |
mMsh4, 4930485C04Rik |
| MMRRC Submission |
038583-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.507)
|
| Stock # |
R0377 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
153562783-153611495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 153602527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 234
(S234P)
|
| 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: S234P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: S234P
| 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 |
probably benign
Transcript: ENSMUST00000188338
AA Change: S146P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: S146P
| 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 |
probably benign
Transcript: ENSMUST00000190449
AA Change: S40P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: S40P
| 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 |
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
97% (67/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
C |
A |
11: 94,265,922 (GRCm39) |
V107F |
possibly damaging |
Het |
| Acad11 |
T |
A |
9: 103,958,891 (GRCm39) |
|
probably benign |
Het |
| Ache |
G |
A |
5: 137,289,190 (GRCm39) |
E299K |
possibly damaging |
Het |
| Adam5 |
T |
C |
8: 25,237,557 (GRCm39) |
T618A |
probably benign |
Het |
| Amigo2 |
T |
A |
15: 97,144,261 (GRCm39) |
T54S |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,483,260 (GRCm39) |
|
probably null |
Het |
| Btaf1 |
A |
G |
19: 36,966,402 (GRCm39) |
K1057E |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,060,337 (GRCm39) |
L396* |
probably null |
Het |
| Cic |
C |
A |
7: 24,985,224 (GRCm39) |
H1157N |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,220,259 (GRCm39) |
T690S |
probably benign |
Het |
| D5Ertd579e |
A |
T |
5: 36,761,911 (GRCm39) |
C1319S |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,098,975 (GRCm39) |
S2027P |
possibly damaging |
Het |
| Dnai4 |
A |
G |
4: 102,905,456 (GRCm39) |
V775A |
probably damaging |
Het |
| Dntt |
G |
A |
19: 41,036,066 (GRCm39) |
W369* |
probably null |
Het |
| Esp18 |
T |
A |
17: 39,720,835 (GRCm39) |
W27R |
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,966,920 (GRCm39) |
|
probably benign |
Het |
| Fbxo31 |
G |
A |
8: 122,285,841 (GRCm39) |
|
probably benign |
Het |
| Gm13547 |
G |
A |
2: 29,651,803 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
A |
4: 124,940,175 (GRCm39) |
|
probably benign |
Het |
| Gpx2 |
G |
A |
12: 76,841,930 (GRCm39) |
Q74* |
probably null |
Het |
| Gucy2c |
A |
G |
6: 136,727,915 (GRCm39) |
|
probably null |
Het |
| Hoxa5 |
A |
T |
6: 52,179,626 (GRCm39) |
W250R |
probably damaging |
Het |
| Izumo4 |
G |
A |
10: 80,538,674 (GRCm39) |
R42H |
probably damaging |
Het |
| Kcnj12 |
G |
A |
11: 60,960,222 (GRCm39) |
M71I |
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,273,618 (GRCm39) |
L2333Q |
probably damaging |
Het |
| Mak |
T |
C |
13: 41,202,824 (GRCm39) |
E177G |
probably damaging |
Het |
| Map3k7 |
T |
A |
4: 31,985,731 (GRCm39) |
I218N |
probably damaging |
Het |
| Mark3 |
T |
C |
12: 111,595,463 (GRCm39) |
L393P |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,834,320 (GRCm39) |
D367G |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,963,401 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,851,159 (GRCm39) |
V784A |
probably benign |
Het |
| Nutf2 |
T |
A |
8: 106,605,504 (GRCm39) |
V113D |
probably damaging |
Het |
| Odad2 |
G |
A |
18: 7,127,415 (GRCm39) |
R933C |
probably benign |
Het |
| Opn3 |
T |
C |
1: 175,491,260 (GRCm39) |
M258V |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,383,927 (GRCm39) |
D180E |
probably damaging |
Het |
| Osbpl7 |
A |
G |
11: 96,946,760 (GRCm39) |
D211G |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 82,021,353 (GRCm39) |
|
probably benign |
Het |
| Plekhd1 |
G |
A |
12: 80,753,210 (GRCm39) |
|
probably benign |
Het |
| Pnpla6 |
A |
G |
8: 3,591,501 (GRCm39) |
E1165G |
probably damaging |
Het |
| Prkab2 |
T |
A |
3: 97,569,633 (GRCm39) |
D66E |
probably benign |
Het |
| Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
| Ptpn23 |
A |
T |
9: 110,217,200 (GRCm39) |
S885R |
possibly damaging |
Het |
| Rab26 |
A |
T |
17: 24,749,019 (GRCm39) |
|
probably benign |
Het |
| Rab5a |
G |
A |
17: 53,807,490 (GRCm39) |
M175I |
probably benign |
Het |
| Rassf9 |
T |
A |
10: 102,381,510 (GRCm39) |
D297E |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,880,925 (GRCm39) |
R161Q |
probably damaging |
Het |
| Rtp1 |
A |
G |
16: 23,250,034 (GRCm39) |
Y133C |
probably damaging |
Het |
| Sdr16c5 |
G |
A |
4: 4,005,546 (GRCm39) |
L263F |
probably benign |
Het |
| Sec14l1 |
T |
G |
11: 117,039,966 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spaca1 |
T |
C |
4: 34,044,267 (GRCm39) |
|
probably null |
Het |
| Stk36 |
C |
T |
1: 74,651,889 (GRCm39) |
P394L |
probably benign |
Het |
| Stk4 |
T |
C |
2: 163,938,720 (GRCm39) |
I196T |
probably damaging |
Het |
| Sult1b1 |
A |
T |
5: 87,665,235 (GRCm39) |
M233K |
probably damaging |
Het |
| Tmem8b |
C |
T |
4: 43,674,005 (GRCm39) |
T212M |
probably damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,638,610 (GRCm39) |
F293I |
probably damaging |
Het |
| Tnfsf11 |
T |
G |
14: 78,537,352 (GRCm39) |
T104P |
probably benign |
Het |
| Trmt2a |
G |
A |
16: 18,067,567 (GRCm39) |
R80Q |
possibly damaging |
Het |
| Trps1 |
C |
A |
15: 50,695,174 (GRCm39) |
E324* |
probably null |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Wdr18 |
G |
A |
10: 79,803,336 (GRCm39) |
R400H |
probably benign |
Het |
| Zfp119b |
T |
A |
17: 56,245,671 (GRCm39) |
H505L |
probably damaging |
Het |
| Zfp619 |
T |
A |
7: 39,186,221 (GRCm39) |
C750* |
probably null |
Het |
| Zfr |
T |
C |
15: 12,160,677 (GRCm39) |
I750T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCAAGAGTACCCTGCCTCATT -3'
(R):5'- AAGCCCACAGATTATGTTGTCACAGTT -3'
Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- CAAAGGTAAGCTGTTTTTGCAAC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation