Incidental Mutation 'R0368:Msh4'
ID |
30313 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Msh4
|
Ensembl Gene |
ENSMUSG00000005493 |
Gene Name |
mutS homolog 4 |
Synonyms |
mMsh4, 4930485C04Rik |
MMRRC Submission |
038574-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.562)
|
Stock # |
R0368 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
153562783-153611495 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 153594462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 113
(Y113F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140265
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005630]
[ENSMUST00000188338]
[ENSMUST00000190449]
|
AlphaFold |
Q99MT2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005630
AA Change: Y307F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005630 Gene: ENSMUSG00000005493 AA Change: Y307F
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: Y219F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140190 Gene: ENSMUSG00000005493 AA Change: Y219F
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: Y113F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140265 Gene: ENSMUSG00000005493 AA Change: Y113F
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: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
T |
19: 8,985,714 (GRCm39) |
K2333* |
probably null |
Het |
Aox4 |
C |
T |
1: 58,252,238 (GRCm39) |
L38F |
probably benign |
Het |
Arhgef15 |
T |
C |
11: 68,845,519 (GRCm39) |
E111G |
probably damaging |
Het |
Atp8a2 |
A |
T |
14: 60,097,661 (GRCm39) |
I789N |
probably damaging |
Het |
Cdca2 |
A |
G |
14: 67,937,796 (GRCm39) |
S286P |
possibly damaging |
Het |
Chrnb1 |
T |
A |
11: 69,675,583 (GRCm39) |
K457M |
probably damaging |
Het |
Cimip2a |
T |
A |
2: 25,110,685 (GRCm39) |
D164E |
probably benign |
Het |
Clec2g |
A |
G |
6: 128,957,224 (GRCm39) |
I61V |
possibly damaging |
Het |
Cyb5r3 |
G |
A |
15: 83,042,993 (GRCm39) |
A233V |
probably benign |
Het |
Cyp4a10 |
T |
A |
4: 115,382,574 (GRCm39) |
L278* |
probably null |
Het |
Dnmt1 |
T |
C |
9: 20,853,053 (GRCm39) |
E56G |
probably damaging |
Het |
Fbln5 |
A |
G |
12: 101,775,973 (GRCm39) |
|
probably null |
Het |
Fhip2a |
A |
G |
19: 57,357,010 (GRCm39) |
T34A |
possibly damaging |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gabrr3 |
A |
G |
16: 59,260,959 (GRCm39) |
D289G |
probably damaging |
Het |
Gpr45 |
T |
C |
1: 43,072,176 (GRCm39) |
L273P |
probably damaging |
Het |
Hkdc1 |
T |
C |
10: 62,247,486 (GRCm39) |
E125G |
probably null |
Het |
Il25 |
A |
G |
14: 55,172,631 (GRCm39) |
|
probably null |
Het |
Itfg1 |
A |
T |
8: 86,491,036 (GRCm39) |
W298R |
probably damaging |
Het |
Kank1 |
A |
T |
19: 25,387,967 (GRCm39) |
K547* |
probably null |
Het |
Lama5 |
G |
A |
2: 179,823,023 (GRCm39) |
R2748* |
probably null |
Het |
Lrp4 |
C |
T |
2: 91,308,079 (GRCm39) |
T508I |
probably damaging |
Het |
Map3k10 |
C |
T |
7: 27,362,785 (GRCm39) |
V434I |
probably damaging |
Het |
Map3k6 |
A |
G |
4: 132,979,970 (GRCm39) |
M1265V |
probably benign |
Het |
Mocs3 |
C |
T |
2: 168,073,602 (GRCm39) |
P350S |
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Nrip1 |
A |
G |
16: 76,090,904 (GRCm39) |
S218P |
probably damaging |
Het |
Olig1 |
C |
T |
16: 91,067,540 (GRCm39) |
S259F |
probably damaging |
Het |
Or4k37 |
T |
C |
2: 111,159,132 (GRCm39) |
Y123H |
probably damaging |
Het |
Or4k41 |
T |
C |
2: 111,280,133 (GRCm39) |
I216T |
probably benign |
Het |
Osbpl9 |
A |
G |
4: 108,924,129 (GRCm39) |
V499A |
probably damaging |
Het |
Pafah2 |
T |
C |
4: 134,149,802 (GRCm39) |
V371A |
probably benign |
Het |
Pkp1 |
T |
A |
1: 135,803,421 (GRCm39) |
M712L |
probably benign |
Het |
Pkp1 |
T |
C |
1: 135,814,590 (GRCm39) |
S244G |
probably benign |
Het |
Ppp1r3a |
T |
C |
6: 14,718,959 (GRCm39) |
T652A |
probably benign |
Het |
Rab21 |
A |
T |
10: 115,134,795 (GRCm39) |
V108E |
probably damaging |
Het |
Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
Sema5b |
T |
A |
16: 35,448,470 (GRCm39) |
V82E |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Slc13a2 |
A |
T |
11: 78,295,626 (GRCm39) |
L80* |
probably null |
Het |
Slc1a5 |
C |
T |
7: 16,516,103 (GRCm39) |
P93L |
probably damaging |
Het |
Slc35b2 |
T |
C |
17: 45,877,389 (GRCm39) |
V172A |
probably benign |
Het |
Slfn8 |
A |
G |
11: 82,907,958 (GRCm39) |
L195P |
probably damaging |
Het |
Smox |
G |
A |
2: 131,364,078 (GRCm39) |
S320N |
probably damaging |
Het |
Sptan1 |
T |
C |
2: 29,883,927 (GRCm39) |
V589A |
probably benign |
Het |
Stim2 |
G |
A |
5: 54,267,482 (GRCm39) |
|
probably null |
Het |
V1ra8 |
A |
G |
6: 90,179,944 (GRCm39) |
D49G |
probably damaging |
Het |
Vmn1r233 |
A |
T |
17: 21,214,869 (GRCm39) |
V27D |
possibly damaging |
Het |
Vmn2r98 |
A |
T |
17: 19,286,089 (GRCm39) |
K196* |
probably null |
Het |
Wdr77 |
T |
C |
3: 105,869,382 (GRCm39) |
|
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 |
R0057:Msh4
|
UTSW |
3 |
153,575,318 (GRCm39) |
missense |
probably benign |
0.16 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTTCAGAAACAACACGGCGATG -3'
(R):5'- AAGTGACAGACTTCCAAGGCTGC -3'
Sequencing Primer
(F):5'- CAACACGGCGATGATTTAAGTG -3'
(R):5'- tggaaggatgatgctcaagg -3'
|
Posted On |
2013-04-24 |