Incidental Mutation 'R5285:Msh4'
| ID |
402971 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh4
|
| Ensembl Gene |
ENSMUSG00000005493 |
| Gene Name |
mutS homolog 4 |
| Synonyms |
mMsh4, 4930485C04Rik |
| MMRRC Submission |
042869-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.507)
|
| Stock # |
R5285 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
153562783-153611495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 153579350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 587
(N587S)
|
| 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: N587S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: N587S
| 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 |
probably benign
Transcript: ENSMUST00000188338
AA Change: N499S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: N499S
| 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: N393S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: N393S
| 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 |
0.1094 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (65/66) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,435,097 (GRCm39) |
T12A |
probably benign |
Het |
| Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
| Adcy8 |
G |
T |
15: 64,639,706 (GRCm39) |
H685N |
possibly damaging |
Het |
| Aldh1l1 |
A |
T |
6: 90,553,752 (GRCm39) |
K539* |
probably null |
Het |
| Ap1m2 |
G |
T |
9: 21,216,933 (GRCm39) |
Y134* |
probably null |
Het |
| Apobr |
A |
G |
7: 126,184,175 (GRCm39) |
|
probably benign |
Het |
| Atl1 |
A |
G |
12: 70,001,273 (GRCm39) |
K345R |
probably benign |
Het |
| Avil |
T |
C |
10: 126,854,328 (GRCm39) |
L765P |
probably damaging |
Het |
| Caps2 |
T |
A |
10: 112,044,216 (GRCm39) |
Y472N |
probably benign |
Het |
| Catspere2 |
A |
G |
1: 177,931,454 (GRCm39) |
K458E |
unknown |
Het |
| Cd177 |
A |
T |
7: 24,445,674 (GRCm39) |
S590T |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,233,887 (GRCm39) |
D2223G |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,028,636 (GRCm39) |
T493A |
probably benign |
Het |
| Chek1 |
T |
C |
9: 36,625,748 (GRCm39) |
D299G |
probably benign |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Crhr1 |
A |
T |
11: 104,061,323 (GRCm39) |
I243F |
possibly damaging |
Het |
| Cyp3a11 |
A |
G |
5: 145,791,893 (GRCm39) |
V500A |
probably benign |
Het |
| Dcdc5 |
A |
T |
2: 106,198,500 (GRCm39) |
|
noncoding transcript |
Het |
| Ergic3 |
A |
G |
2: 155,859,957 (GRCm39) |
|
probably benign |
Het |
| Fabp3-ps1 |
T |
G |
10: 86,568,066 (GRCm39) |
|
probably benign |
Het |
| Gm6445 |
C |
A |
19: 9,585,032 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2d |
C |
A |
7: 98,107,474 (GRCm39) |
|
probably null |
Het |
| Ighv1-19-1 |
C |
A |
12: 114,667,872 (GRCm39) |
|
probably benign |
Het |
| Igkv2-116 |
G |
T |
6: 68,129,463 (GRCm39) |
R75L |
probably benign |
Het |
| Inhbc |
C |
A |
10: 127,193,269 (GRCm39) |
R249L |
probably damaging |
Het |
| Lrrn2 |
T |
A |
1: 132,866,983 (GRCm39) |
S683T |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,809,011 (GRCm39) |
V227A |
probably benign |
Het |
| Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
G |
A |
6: 121,818,066 (GRCm39) |
E126K |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,197,982 (GRCm39) |
S1204P |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,283,475 (GRCm39) |
I413T |
probably damaging |
Het |
| Nipa2 |
A |
T |
7: 55,582,760 (GRCm39) |
Y328* |
probably null |
Het |
| Or1e25 |
T |
A |
11: 73,493,767 (GRCm39) |
Y120* |
probably null |
Het |
| Or51a24 |
A |
G |
7: 103,733,340 (GRCm39) |
*316R |
probably null |
Het |
| Or52s1 |
C |
T |
7: 102,862,005 (GRCm39) |
R302* |
probably null |
Het |
| Or5k15 |
A |
T |
16: 58,710,471 (GRCm39) |
Y37* |
probably null |
Het |
| Or5k3 |
T |
C |
16: 58,969,633 (GRCm39) |
L140P |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,019,985 (GRCm39) |
D155G |
probably damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,937,527 (GRCm39) |
T1176I |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,114,973 (GRCm39) |
|
probably benign |
Het |
| Prl8a2 |
G |
A |
13: 27,534,116 (GRCm39) |
|
probably null |
Het |
| Prmt7 |
G |
A |
8: 106,974,991 (GRCm39) |
R529Q |
probably benign |
Het |
| Psg17 |
T |
A |
7: 18,554,126 (GRCm39) |
L41F |
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,663,726 (GRCm39) |
R73G |
probably benign |
Het |
| Rhpn2 |
G |
T |
7: 35,080,990 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sarm1 |
A |
G |
11: 78,388,265 (GRCm39) |
F7S |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,778,674 (GRCm39) |
|
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,294,686 (GRCm39) |
K99R |
probably benign |
Het |
| Sorbs1 |
G |
A |
19: 40,310,334 (GRCm39) |
T1018I |
probably damaging |
Het |
| Spns2 |
G |
A |
11: 72,380,305 (GRCm39) |
A106V |
possibly damaging |
Het |
| Stab1 |
A |
G |
14: 30,865,433 (GRCm39) |
|
probably benign |
Het |
| Steap3 |
T |
C |
1: 120,169,610 (GRCm39) |
D191G |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,674,019 (GRCm39) |
|
probably null |
Het |
| Sycp2 |
A |
T |
2: 178,034,191 (GRCm39) |
|
probably null |
Het |
| Tm6sf1 |
A |
G |
7: 81,509,200 (GRCm39) |
S2G |
possibly damaging |
Het |
| Usp24 |
T |
A |
4: 106,264,230 (GRCm39) |
D1720E |
probably benign |
Het |
| Vmn1r200 |
G |
A |
13: 22,579,457 (GRCm39) |
E78K |
possibly damaging |
Het |
| Vmn2r120 |
A |
G |
17: 57,843,703 (GRCm39) |
L47P |
probably damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,365,442 (GRCm39) |
N544S |
probably damaging |
Het |
| Vwa1 |
C |
T |
4: 155,855,352 (GRCm39) |
A254T |
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,775,422 (GRCm39) |
R488Q |
probably damaging |
Het |
| Zfp940 |
A |
T |
7: 29,545,025 (GRCm39) |
L294H |
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 |
|
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'- CTGCTGCAATCAGACAGAGC -3'
(R):5'- GGGAGACTGAGTTAGAAACATCTTTC -3'
Sequencing Primer
(F):5'- ACATGTAGGTCATGTGATAG -3'
(R):5'- ACCTTGCTCTTATTTTTCACAGACAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation