Incidental Mutation 'R9780:Msh4'
| ID |
733964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh4
|
| Ensembl Gene |
ENSMUSG00000005493 |
| Gene Name |
mutS homolog 4 |
| Synonyms |
mMsh4, 4930485C04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.562)
|
| Stock # |
R9780 (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 153582342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 510
(Y510C)
|
| 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: Y510C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: Y510C
| 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 damaging
Transcript: ENSMUST00000188338
AA Change: Y422C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: Y422C
| 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 damaging
Transcript: ENSMUST00000190449
AA Change: Y316C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: Y316C
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,911,447 (GRCm39) |
T1344A |
probably benign |
Het |
| Actrt3 |
T |
A |
3: 30,652,876 (GRCm39) |
I73F |
probably damaging |
Het |
| Ankrd24 |
T |
C |
10: 81,482,196 (GRCm39) |
S915P |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,209,358 (GRCm39) |
F281I |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,059,102 (GRCm39) |
V148A |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,954,426 (GRCm39) |
I256T |
probably benign |
Het |
| Bloc1s3 |
G |
A |
7: 19,241,408 (GRCm39) |
S40L |
possibly damaging |
Het |
| Cep68 |
G |
A |
11: 20,192,142 (GRCm39) |
P19L |
probably benign |
Het |
| Chst9 |
T |
A |
18: 15,586,221 (GRCm39) |
Q114L |
probably benign |
Het |
| Cpa2 |
T |
A |
6: 30,545,536 (GRCm39) |
F106I |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,258,123 (GRCm39) |
E2123G |
probably benign |
Het |
| Crocc |
T |
C |
4: 140,756,556 (GRCm39) |
D1187G |
probably benign |
Het |
| Dhx8 |
A |
T |
11: 101,632,403 (GRCm39) |
D454V |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eif3a |
A |
T |
19: 60,766,398 (GRCm39) |
L310H |
probably damaging |
Het |
| Ergic3 |
C |
A |
2: 155,853,164 (GRCm39) |
Y202* |
probably null |
Het |
| Fam117a |
A |
T |
11: 95,268,309 (GRCm39) |
I237L |
possibly damaging |
Het |
| Fcsk |
T |
C |
8: 111,613,743 (GRCm39) |
M773V |
probably benign |
Het |
| Gcnt4 |
T |
A |
13: 97,083,948 (GRCm39) |
S415T |
probably benign |
Het |
| Hacl1 |
C |
A |
14: 31,362,519 (GRCm39) |
V43L |
possibly damaging |
Het |
| Hbb-bh2 |
A |
G |
7: 103,489,624 (GRCm39) |
L4P |
probably damaging |
Het |
| Hmbs |
A |
G |
9: 44,247,985 (GRCm39) |
L357P |
probably damaging |
Het |
| Hpcal1 |
A |
G |
12: 17,836,494 (GRCm39) |
Y108C |
probably damaging |
Het |
| Hspa14 |
A |
T |
2: 3,490,741 (GRCm39) |
M482K |
probably damaging |
Het |
| Ifi27l2b |
G |
T |
12: 103,417,461 (GRCm39) |
P242Q |
unknown |
Het |
| Insyn1 |
A |
G |
9: 58,406,881 (GRCm39) |
N264D |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,487,795 (GRCm39) |
V2407A |
probably benign |
Het |
| Lcp1 |
T |
C |
14: 75,440,178 (GRCm39) |
F154S |
probably damaging |
Het |
| Lmod2 |
T |
C |
6: 24,604,233 (GRCm39) |
S403P |
probably damaging |
Het |
| Lrrc63 |
G |
A |
14: 75,360,500 (GRCm39) |
A334V |
probably damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,025,824 (GRCm39) |
T933S |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,747,253 (GRCm39) |
Y468C |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,064,613 (GRCm39) |
K235R |
|
Het |
| Nek2 |
A |
T |
1: 191,554,738 (GRCm39) |
D150V |
probably damaging |
Het |
| Nfkbil1 |
C |
A |
17: 35,439,898 (GRCm39) |
R205L |
possibly damaging |
Het |
| Nox3 |
A |
G |
17: 3,736,260 (GRCm39) |
F122S |
possibly damaging |
Het |
| Nrxn1 |
A |
G |
17: 90,931,042 (GRCm39) |
V718A |
possibly damaging |
Het |
| Oplah |
A |
G |
15: 76,181,940 (GRCm39) |
I1061T |
probably damaging |
Het |
| Or13e8 |
G |
A |
4: 43,697,193 (GRCm39) |
|
probably benign |
Het |
| Or2y16 |
G |
A |
11: 49,335,014 (GRCm39) |
C112Y |
possibly damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,631 (GRCm39) |
S104P |
probably damaging |
Het |
| Or9m1 |
A |
G |
2: 87,733,426 (GRCm39) |
L198P |
probably damaging |
Het |
| Pcf11 |
A |
T |
7: 92,313,313 (GRCm39) |
D123E |
possibly damaging |
Het |
| Pcna |
C |
T |
2: 132,094,794 (GRCm39) |
E55K |
probably benign |
Het |
| Pip5k1c |
T |
C |
10: 81,141,030 (GRCm39) |
V46A |
probably benign |
Het |
| Plce1 |
T |
G |
19: 38,609,134 (GRCm39) |
L481R |
possibly damaging |
Het |
| Psma7 |
A |
T |
2: 179,678,339 (GRCm39) |
Y228N |
unknown |
Het |
| Rcbtb1 |
T |
A |
14: 59,465,796 (GRCm39) |
Y380N |
probably benign |
Het |
| Rin2 |
A |
T |
2: 145,718,551 (GRCm39) |
E677V |
probably damaging |
Het |
| Scgb2b11 |
A |
G |
7: 31,909,861 (GRCm39) |
L75P |
probably damaging |
Het |
| Scn4a |
A |
G |
11: 106,226,235 (GRCm39) |
V775A |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,016,999 (GRCm39) |
D34G |
possibly damaging |
Het |
| Slc38a9 |
A |
T |
13: 112,862,591 (GRCm39) |
D430V |
probably damaging |
Het |
| Snapc4 |
A |
T |
2: 26,267,019 (GRCm39) |
N77K |
possibly damaging |
Het |
| Stk32a |
T |
G |
18: 43,375,049 (GRCm39) |
F20V |
probably benign |
Het |
| Taf1b |
G |
A |
12: 24,564,818 (GRCm39) |
G145D |
probably damaging |
Het |
| Tomt |
G |
C |
7: 101,549,536 (GRCm39) |
Q251E |
probably benign |
Het |
| Tsc1 |
G |
A |
2: 28,565,761 (GRCm39) |
E471K |
probably damaging |
Het |
| Ttll9 |
G |
A |
2: 152,836,023 (GRCm39) |
A256T |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,774,289 (GRCm39) |
C2252S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,785,035 (GRCm39) |
D797E |
unknown |
Het |
| Usf3 |
T |
A |
16: 44,039,181 (GRCm39) |
N1220K |
possibly damaging |
Het |
| Usp22 |
A |
T |
11: 61,050,069 (GRCm39) |
H355Q |
probably benign |
Het |
| Virma |
T |
A |
4: 11,513,442 (GRCm39) |
V432E |
possibly damaging |
Het |
| Vtn |
A |
C |
11: 78,393,003 (GRCm39) |
D456A |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 74,945,359 (GRCm39) |
S688P |
probably damaging |
Het |
| Zfhx2 |
C |
A |
14: 55,312,494 (GRCm39) |
D67Y |
probably benign |
Het |
| Zfp87 |
T |
C |
13: 67,665,241 (GRCm39) |
H407R |
probably damaging |
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 |
|
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 |
|
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'- TCCAGCACGATGACATCATTC -3'
(R):5'- AACTCTCAACAAAGGTTTGGTTTC -3'
Sequencing Primer
(F):5'- TAAAGGGTTGTGCCACCAGGTC -3'
(R):5'- TTCATTAACGGTGAAAGTGGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation