Incidental Mutation 'R5777:Msh4'
| ID |
446748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh4
|
| Ensembl Gene |
ENSMUSG00000005493 |
| Gene Name |
mutS homolog 4 |
| Synonyms |
mMsh4, 4930485C04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.507)
|
| Stock # |
R5777 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
153562783-153611495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 153569076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 832
(M832I)
|
| 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: M832I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: M832I
| 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 benign
Transcript: ENSMUST00000188338
AA Change: M744I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: M744I
| 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 benign
Transcript: ENSMUST00000190449
AA Change: M638I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: M638I
| 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: 97.5%
- 20x: 95.8%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrp |
T |
C |
8: 106,294,000 (GRCm39) |
E41G |
probably benign |
Het |
| Amph |
A |
T |
13: 19,230,186 (GRCm39) |
N45Y |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,882,522 (GRCm39) |
L470Q |
probably damaging |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,946 (GRCm39) |
Y76F |
possibly damaging |
Het |
| Casp12 |
A |
T |
9: 5,354,548 (GRCm39) |
I306F |
probably benign |
Het |
| Cobll1 |
A |
T |
2: 64,933,612 (GRCm39) |
M460K |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,890,895 (GRCm39) |
L1800I |
possibly damaging |
Het |
| Ctdsp1 |
T |
C |
1: 74,433,227 (GRCm39) |
V131A |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 64,511,664 (GRCm39) |
H618R |
probably benign |
Het |
| Dhx38 |
C |
A |
8: 110,283,534 (GRCm39) |
V538L |
possibly damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,001,733 (GRCm39) |
D151G |
probably damaging |
Het |
| Fbxw28 |
A |
G |
9: 109,167,604 (GRCm39) |
L51P |
probably damaging |
Het |
| Gm4781 |
C |
T |
10: 100,232,831 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5134 |
C |
A |
10: 75,840,594 (GRCm39) |
F479L |
probably benign |
Het |
| H2bc27 |
A |
G |
11: 58,839,835 (GRCm39) |
K24E |
probably benign |
Het |
| Hexa |
T |
G |
9: 59,468,243 (GRCm39) |
V290G |
probably damaging |
Het |
| Ifi206 |
C |
T |
1: 173,308,928 (GRCm39) |
R356K |
possibly damaging |
Het |
| Kcnj12 |
G |
A |
11: 60,961,277 (GRCm39) |
R525Q |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,285,869 (GRCm39) |
I3774N |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,676,685 (GRCm39) |
E852G |
probably damaging |
Het |
| Ndufaf1 |
A |
T |
2: 119,490,963 (GRCm39) |
C32* |
probably null |
Het |
| Nos2 |
A |
G |
11: 78,830,978 (GRCm39) |
E387G |
probably null |
Het |
| Or4f58 |
C |
T |
2: 111,851,876 (GRCm39) |
G108R |
probably damaging |
Het |
| Or55b10 |
A |
G |
7: 102,143,178 (GRCm39) |
V268A |
probably benign |
Het |
| Or5h27 |
T |
A |
16: 59,006,266 (GRCm39) |
L193F |
unknown |
Het |
| Or7a36 |
A |
C |
10: 78,820,512 (GRCm39) |
D296A |
possibly damaging |
Het |
| Or7g29 |
A |
T |
9: 19,287,014 (GRCm39) |
H54Q |
probably benign |
Het |
| Or8j3c |
A |
G |
2: 86,253,669 (GRCm39) |
V117A |
probably benign |
Het |
| P3h3 |
T |
C |
6: 124,832,921 (GRCm39) |
T211A |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,876,856 (GRCm39) |
N137S |
probably damaging |
Het |
| Pgf |
T |
C |
12: 85,216,148 (GRCm39) |
T157A |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,428,579 (GRCm39) |
D714G |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,522,913 (GRCm39) |
I930M |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,058,837 (GRCm39) |
S197P |
possibly damaging |
Het |
| Skint7 |
T |
A |
4: 111,845,289 (GRCm39) |
I367N |
probably benign |
Het |
| Slfn5 |
A |
T |
11: 82,851,830 (GRCm39) |
D652V |
probably damaging |
Het |
| Stx1b |
G |
A |
7: 127,410,090 (GRCm39) |
Q3* |
probably null |
Het |
| Tex35 |
T |
C |
1: 156,934,777 (GRCm39) |
M46V |
probably benign |
Het |
| Tkt |
A |
C |
14: 30,280,733 (GRCm39) |
T55P |
possibly damaging |
Het |
| Trim30c |
T |
C |
7: 104,032,538 (GRCm39) |
R263G |
probably benign |
Het |
| U2af2 |
G |
A |
7: 5,069,450 (GRCm39) |
R33Q |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,391,469 (GRCm39) |
V182D |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,348 (GRCm39) |
V863A |
possibly damaging |
Het |
| Zfp976 |
T |
G |
7: 42,263,504 (GRCm39) |
H111P |
probably benign |
Het |
| Zfp982 |
A |
T |
4: 147,595,321 (GRCm39) |
N48Y |
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 |
|
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'- TCTGTCAAAGAAACTCGATTGC -3'
(R):5'- CCCATGACCTGAACATGTCC -3'
Sequencing Primer
(F):5'- TCAAAGAAACTCGATTGCTAGAAAG -3'
(R):5'- GAACATGTCCATCTCTGAGATACTGG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation