Incidental Mutation 'R1669:Msh4'
ID |
187433 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Msh4
|
Ensembl Gene |
ENSMUSG00000005493 |
Gene Name |
mutS homolog 4 |
Synonyms |
mMsh4, 4930485C04Rik |
MMRRC Submission |
039705-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.507)
|
Stock # |
R1669 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
153562783-153611495 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 153582357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 417
(R417Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005630]
[ENSMUST00000188338]
[ENSMUST00000190449]
|
AlphaFold |
Q99MT2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005630
AA Change: R505Q
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000005630 Gene: ENSMUSG00000005493 AA Change: R505Q
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: ENSMUST00000186220
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188338
AA Change: R417Q
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000140190 Gene: ENSMUSG00000005493 AA Change: R417Q
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: R311Q
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000140265 Gene: ENSMUSG00000005493 AA Change: R311Q
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: ENSMUST00000191504
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191606
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
99% (85/86) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano10 |
A |
C |
9: 122,086,249 (GRCm39) |
L258R |
possibly damaging |
Het |
Ap3d1 |
A |
G |
10: 80,546,670 (GRCm39) |
|
probably benign |
Het |
Aplp2 |
G |
T |
9: 31,079,029 (GRCm39) |
|
probably benign |
Het |
Arhgap11a |
T |
C |
2: 113,672,257 (GRCm39) |
D237G |
possibly damaging |
Het |
Arhgef4 |
A |
T |
1: 34,771,239 (GRCm39) |
H1182L |
possibly damaging |
Het |
Ash1l |
G |
A |
3: 88,974,549 (GRCm39) |
|
probably null |
Het |
Bicdl1 |
C |
A |
5: 115,794,075 (GRCm39) |
V224L |
possibly damaging |
Het |
Cacna1h |
C |
A |
17: 25,602,445 (GRCm39) |
V1422L |
probably damaging |
Het |
Card10 |
T |
C |
15: 78,678,153 (GRCm39) |
E365G |
probably benign |
Het |
Cd180 |
C |
T |
13: 102,841,998 (GRCm39) |
T348I |
probably damaging |
Het |
Cds2 |
T |
A |
2: 132,137,439 (GRCm39) |
|
probably null |
Het |
Chaf1a |
C |
A |
17: 56,370,339 (GRCm39) |
D601E |
probably benign |
Het |
Coprs |
C |
T |
8: 13,935,704 (GRCm39) |
W12* |
probably null |
Het |
Cpsf3 |
T |
A |
12: 21,355,332 (GRCm39) |
M424K |
probably damaging |
Het |
Cxcl13 |
T |
A |
5: 96,106,600 (GRCm39) |
N57K |
probably damaging |
Het |
Dact1 |
C |
T |
12: 71,365,547 (GRCm39) |
T776M |
probably damaging |
Het |
Depdc1a |
A |
G |
3: 159,228,561 (GRCm39) |
K438E |
probably benign |
Het |
Dop1b |
T |
A |
16: 93,566,548 (GRCm39) |
S992T |
probably damaging |
Het |
Dusp11 |
A |
T |
6: 85,927,008 (GRCm39) |
H202Q |
probably benign |
Het |
Ezr |
T |
C |
17: 7,006,712 (GRCm39) |
E584G |
probably damaging |
Het |
F830104G03Rik |
A |
G |
3: 56,797,998 (GRCm39) |
V6A |
unknown |
Het |
Fam227a |
G |
A |
15: 79,504,878 (GRCm39) |
|
probably null |
Het |
Gapvd1 |
T |
G |
2: 34,620,694 (GRCm39) |
|
probably null |
Het |
Gm10267 |
T |
C |
18: 44,290,367 (GRCm39) |
R47G |
probably damaging |
Het |
Hectd3 |
T |
A |
4: 116,856,840 (GRCm39) |
D462E |
probably damaging |
Het |
Hfe |
A |
T |
13: 23,890,110 (GRCm39) |
L133* |
probably null |
Het |
Hpcal4 |
T |
C |
4: 123,082,869 (GRCm39) |
F72L |
probably damaging |
Het |
Itgb4 |
G |
A |
11: 115,882,156 (GRCm39) |
R825H |
probably benign |
Het |
Kcnh8 |
T |
A |
17: 53,200,996 (GRCm39) |
Y477N |
probably damaging |
Het |
Kctd1 |
T |
C |
18: 15,195,517 (GRCm39) |
N369D |
possibly damaging |
Het |
Kdm1b |
C |
T |
13: 47,222,024 (GRCm39) |
R488C |
probably damaging |
Het |
Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
Klra8 |
A |
T |
6: 130,092,592 (GRCm39) |
C236* |
probably null |
Het |
Lca5l |
T |
C |
16: 95,961,008 (GRCm39) |
R485G |
possibly damaging |
Het |
Lrrc2 |
A |
G |
9: 110,810,718 (GRCm39) |
T363A |
probably damaging |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Lyst |
G |
A |
13: 13,818,672 (GRCm39) |
G1314D |
possibly damaging |
Het |
Mmp10 |
A |
T |
9: 7,505,526 (GRCm39) |
|
probably null |
Het |
Mmp13 |
A |
G |
9: 7,277,926 (GRCm39) |
D273G |
probably benign |
Het |
Morc2a |
G |
A |
11: 3,625,885 (GRCm39) |
V162M |
probably benign |
Het |
Nedd9 |
A |
T |
13: 41,465,270 (GRCm39) |
V790E |
probably damaging |
Het |
Nlgn1 |
C |
A |
3: 25,490,298 (GRCm39) |
L476F |
probably damaging |
Het |
Nox4 |
C |
A |
7: 86,945,097 (GRCm39) |
Q118K |
probably benign |
Het |
Nxf1 |
A |
G |
19: 8,749,495 (GRCm39) |
T131A |
possibly damaging |
Het |
Oog3 |
C |
A |
4: 143,885,008 (GRCm39) |
R309S |
probably benign |
Het |
Oosp3 |
C |
T |
19: 11,678,378 (GRCm39) |
|
probably benign |
Het |
Or10a3 |
T |
A |
7: 108,479,920 (GRCm39) |
T298S |
probably benign |
Het |
Or2a7 |
T |
A |
6: 43,151,755 (GRCm39) |
S278R |
probably damaging |
Het |
Or2w6 |
A |
T |
13: 21,843,456 (GRCm39) |
S12R |
possibly damaging |
Het |
Or4c126 |
T |
A |
2: 89,824,144 (GRCm39) |
|
probably null |
Het |
Or51a42 |
A |
T |
7: 103,708,516 (GRCm39) |
S98T |
probably benign |
Het |
Or5b97 |
A |
T |
19: 12,878,652 (GRCm39) |
I164K |
possibly damaging |
Het |
P2ry6 |
A |
G |
7: 100,587,630 (GRCm39) |
V243A |
probably damaging |
Het |
Pgc |
C |
A |
17: 48,044,715 (GRCm39) |
P321T |
probably damaging |
Het |
Pramel22 |
T |
G |
4: 143,380,916 (GRCm39) |
E369A |
possibly damaging |
Het |
Prkd1 |
G |
A |
12: 50,441,709 (GRCm39) |
H277Y |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,551,922 (GRCm39) |
S2043T |
probably damaging |
Het |
Rasal3 |
T |
C |
17: 32,622,072 (GRCm39) |
N96D |
possibly damaging |
Het |
Rnf4 |
T |
C |
5: 34,508,624 (GRCm39) |
F162S |
probably damaging |
Het |
Ros1 |
A |
T |
10: 52,037,907 (GRCm39) |
N421K |
probably damaging |
Het |
Rtn4rl1 |
A |
G |
11: 75,156,753 (GRCm39) |
D395G |
probably benign |
Het |
Scn8a |
T |
G |
15: 100,909,001 (GRCm39) |
V823G |
probably damaging |
Het |
Sema3d |
T |
A |
5: 12,558,051 (GRCm39) |
|
probably benign |
Het |
Slc12a2 |
T |
C |
18: 58,037,307 (GRCm39) |
I501T |
probably damaging |
Het |
Slc12a7 |
C |
T |
13: 73,943,232 (GRCm39) |
T382I |
probably benign |
Het |
Slc16a12 |
T |
A |
19: 34,657,781 (GRCm39) |
I41L |
probably benign |
Het |
Slc1a1 |
C |
A |
19: 28,889,194 (GRCm39) |
T489K |
probably benign |
Het |
Slc24a3 |
C |
T |
2: 145,455,512 (GRCm39) |
P467L |
probably damaging |
Het |
Slco1a8 |
T |
A |
6: 141,933,415 (GRCm39) |
I457F |
probably benign |
Het |
Snai2 |
A |
T |
16: 14,524,908 (GRCm39) |
Y138F |
possibly damaging |
Het |
Sorcs1 |
A |
C |
19: 50,463,860 (GRCm39) |
Y197D |
probably damaging |
Het |
Sppl2a |
T |
A |
2: 126,759,714 (GRCm39) |
|
probably benign |
Het |
Srgap3 |
G |
A |
6: 112,699,865 (GRCm39) |
P1038S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,554,807 (GRCm39) |
E30699G |
probably damaging |
Het |
Vmn2r124 |
T |
A |
17: 18,283,206 (GRCm39) |
M300K |
possibly damaging |
Het |
Vwf |
T |
C |
6: 125,624,869 (GRCm39) |
S1873P |
possibly damaging |
Het |
Wrap73 |
A |
G |
4: 154,240,588 (GRCm39) |
D360G |
probably damaging |
Het |
Zfp366 |
T |
C |
13: 99,366,069 (GRCm39) |
M410T |
probably damaging |
Het |
Zfp608 |
C |
T |
18: 55,120,811 (GRCm39) |
V259I |
probably benign |
Het |
Zfp69 |
C |
T |
4: 120,804,695 (GRCm39) |
|
probably benign |
Het |
Zfp995 |
T |
C |
17: 22,098,945 (GRCm39) |
T430A |
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 |
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'- CACTCTCCAGCACGATGACATCATTC -3'
(R):5'- TGATCATGCACAGCTTGGGAGGT -3'
Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- ACCATTTTTGAGTAATCCTGGC -3'
|
Posted On |
2014-05-09 |