Incidental Mutation 'R4757:Msh4'
ID |
358217 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Msh4
|
Ensembl Gene |
ENSMUSG00000005493 |
Gene Name |
mutS homolog 4 |
Synonyms |
mMsh4, 4930485C04Rik |
MMRRC Submission |
041973-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.562)
|
Stock # |
R4757 (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 153585024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 360
(H360L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005630]
[ENSMUST00000188338]
[ENSMUST00000190449]
|
AlphaFold |
Q99MT2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005630
AA Change: H448L
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000005630 Gene: ENSMUSG00000005493 AA Change: H448L
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 damaging
Transcript: ENSMUST00000188338
AA Change: H360L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140190 Gene: ENSMUSG00000005493 AA Change: H360L
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 |
possibly damaging
Transcript: ENSMUST00000190449
AA Change: H254L
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000140265 Gene: ENSMUSG00000005493 AA Change: H254L
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
A |
T |
9: 53,336,830 (GRCm39) |
M45L |
probably benign |
Het |
Abcb1a |
T |
A |
5: 8,787,632 (GRCm39) |
V978D |
probably damaging |
Het |
Acsm4 |
T |
C |
7: 119,297,900 (GRCm39) |
V179A |
probably benign |
Het |
Agtr1a |
C |
A |
13: 30,565,842 (GRCm39) |
Y302* |
probably null |
Het |
Akap9 |
T |
C |
5: 4,058,382 (GRCm39) |
I1677T |
probably damaging |
Het |
Ankk1 |
T |
A |
9: 49,327,230 (GRCm39) |
M650L |
probably benign |
Het |
Apod |
T |
A |
16: 31,122,280 (GRCm39) |
N65Y |
probably damaging |
Het |
Bcl2l1 |
T |
A |
2: 152,624,178 (GRCm39) |
N197Y |
possibly damaging |
Het |
Brpf1 |
A |
T |
6: 113,292,072 (GRCm39) |
I373F |
probably damaging |
Het |
Car13 |
T |
C |
3: 14,726,615 (GRCm39) |
V257A |
probably damaging |
Het |
Ccdc150 |
A |
T |
1: 54,317,874 (GRCm39) |
H271L |
possibly damaging |
Het |
Cit |
T |
A |
5: 116,135,608 (GRCm39) |
I1836N |
probably damaging |
Het |
Clec12b |
A |
G |
6: 129,357,655 (GRCm39) |
S68P |
probably damaging |
Het |
Col4a4 |
A |
G |
1: 82,506,187 (GRCm39) |
F298L |
unknown |
Het |
Crct1 |
G |
A |
3: 92,922,093 (GRCm39) |
Q15* |
probably null |
Het |
Creld1 |
A |
G |
6: 113,469,208 (GRCm39) |
E346G |
probably benign |
Het |
Ctnnal1 |
T |
A |
4: 56,847,980 (GRCm39) |
H53L |
probably damaging |
Het |
Cyb5d1 |
T |
C |
11: 69,285,814 (GRCm39) |
D74G |
probably damaging |
Het |
Deptor |
A |
T |
15: 55,075,674 (GRCm39) |
S293C |
probably damaging |
Het |
Dnajb12 |
A |
G |
10: 59,728,592 (GRCm39) |
S187G |
probably benign |
Het |
Duoxa2 |
G |
T |
2: 122,131,072 (GRCm39) |
V78L |
possibly damaging |
Het |
Fem1al |
A |
T |
11: 29,775,454 (GRCm39) |
M1K |
probably null |
Het |
Fhod1 |
C |
A |
8: 106,074,443 (GRCm39) |
|
probably benign |
Het |
Foxf2 |
C |
T |
13: 31,810,172 (GRCm39) |
P37L |
unknown |
Het |
Gabbr2 |
T |
C |
4: 46,875,675 (GRCm39) |
N149S |
probably damaging |
Het |
Gckr |
G |
T |
5: 31,464,728 (GRCm39) |
M344I |
possibly damaging |
Het |
Herc6 |
G |
A |
6: 57,577,045 (GRCm39) |
|
probably null |
Het |
Igf1 |
A |
T |
10: 87,751,287 (GRCm39) |
E161V |
probably benign |
Het |
Ighv8-13 |
T |
A |
12: 115,729,268 (GRCm39) |
|
probably benign |
Het |
Igkv6-14 |
A |
T |
6: 70,412,426 (GRCm39) |
L12* |
probably null |
Het |
Kpnb1 |
C |
T |
11: 97,068,160 (GRCm39) |
S270N |
possibly damaging |
Het |
Lingo1 |
A |
G |
9: 56,527,209 (GRCm39) |
V460A |
probably benign |
Het |
Lsm6 |
T |
C |
8: 79,539,711 (GRCm39) |
|
probably null |
Het |
Mccc1 |
C |
T |
3: 36,050,066 (GRCm39) |
G42E |
probably benign |
Het |
Mga |
A |
G |
2: 119,734,120 (GRCm39) |
K323E |
possibly damaging |
Het |
Mks1 |
A |
G |
11: 87,753,850 (GRCm39) |
*562W |
probably null |
Het |
Mrgpra4 |
T |
A |
7: 47,630,686 (GRCm39) |
E305V |
probably damaging |
Het |
Mthfsd |
C |
T |
8: 121,825,737 (GRCm39) |
|
probably null |
Het |
Myl12a |
A |
T |
17: 71,303,798 (GRCm39) |
F26L |
possibly damaging |
Het |
Nedd4l |
A |
G |
18: 65,298,676 (GRCm39) |
S343G |
probably damaging |
Het |
Nlgn1 |
T |
A |
3: 25,490,332 (GRCm39) |
D465V |
probably damaging |
Het |
Nlgn1 |
C |
T |
3: 25,490,507 (GRCm39) |
V407I |
possibly damaging |
Het |
Npsr1 |
T |
C |
9: 24,046,064 (GRCm39) |
V61A |
probably benign |
Het |
Nrxn2 |
A |
G |
19: 6,559,851 (GRCm39) |
D160G |
probably damaging |
Het |
Or2p2 |
T |
C |
13: 21,256,715 (GRCm39) |
Y252C |
probably damaging |
Het |
Or52d3 |
T |
C |
7: 104,229,404 (GRCm39) |
Y184H |
possibly damaging |
Het |
Or5b107 |
A |
C |
19: 13,143,277 (GRCm39) |
S300R |
probably benign |
Het |
Or5b113 |
G |
T |
19: 13,342,810 (GRCm39) |
A273S |
probably benign |
Het |
Or9g4 |
A |
G |
2: 85,504,664 (GRCm39) |
F277S |
probably damaging |
Het |
Pbx1 |
C |
A |
1: 168,023,450 (GRCm39) |
R235L |
probably damaging |
Het |
Pcnx4 |
T |
C |
12: 72,603,067 (GRCm39) |
V443A |
probably benign |
Het |
Pde7b |
T |
C |
10: 20,423,688 (GRCm39) |
T63A |
probably benign |
Het |
Phf3 |
C |
T |
1: 30,859,908 (GRCm39) |
G873D |
probably damaging |
Het |
Phox2b |
A |
T |
5: 67,256,197 (GRCm39) |
Y30N |
probably damaging |
Het |
Plch2 |
T |
A |
4: 155,080,690 (GRCm39) |
I599F |
possibly damaging |
Het |
Plekha8 |
A |
G |
6: 54,599,213 (GRCm39) |
E249G |
probably benign |
Het |
Pou2af1 |
T |
A |
9: 51,144,439 (GRCm39) |
Y118N |
possibly damaging |
Het |
Ppp3cc |
T |
A |
14: 70,455,635 (GRCm39) |
K489N |
possibly damaging |
Het |
Sema4b |
T |
C |
7: 79,866,577 (GRCm39) |
L219P |
probably damaging |
Het |
Slc6a5 |
T |
G |
7: 49,609,030 (GRCm39) |
V745G |
probably benign |
Het |
Slf2 |
A |
G |
19: 44,923,497 (GRCm39) |
M104V |
probably benign |
Het |
Slx1b |
A |
G |
7: 126,291,701 (GRCm39) |
V121A |
probably benign |
Het |
Speer4e2 |
T |
A |
5: 15,026,222 (GRCm39) |
H145L |
probably benign |
Het |
Spen |
T |
A |
4: 141,200,390 (GRCm39) |
K2746* |
probably null |
Het |
Stxbp5l |
T |
C |
16: 37,008,996 (GRCm39) |
Y681C |
probably damaging |
Het |
Sv2b |
T |
C |
7: 74,773,918 (GRCm39) |
T518A |
probably benign |
Het |
Tgm7 |
A |
T |
2: 120,926,870 (GRCm39) |
H426Q |
possibly damaging |
Het |
Tlx2 |
A |
G |
6: 83,046,900 (GRCm39) |
F54S |
probably benign |
Het |
Trp53bp2 |
A |
T |
1: 182,286,339 (GRCm39) |
M1060L |
probably benign |
Het |
Trpv5 |
T |
A |
6: 41,630,148 (GRCm39) |
E647D |
probably damaging |
Het |
Tut1 |
G |
T |
19: 8,936,672 (GRCm39) |
K165N |
possibly damaging |
Het |
Tyro3 |
A |
G |
2: 119,641,419 (GRCm39) |
K543E |
probably damaging |
Het |
Vmn2r69 |
T |
A |
7: 85,061,575 (GRCm39) |
Y133F |
probably damaging |
Het |
Zfhx4 |
T |
A |
3: 5,465,122 (GRCm39) |
V1785D |
possibly damaging |
Het |
Zfp451 |
A |
G |
1: 33,804,939 (GRCm39) |
L1037P |
probably damaging |
Het |
Zscan29 |
A |
T |
2: 120,991,392 (GRCm39) |
F799I |
possibly 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 |
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'- GACACCCTTGCTCATAGAAAAG -3'
(R):5'- CCACTATCTGGGCTTTGCTG -3'
Sequencing Primer
(F):5'- CCCTTGCTCATAGAAAAGACATG -3'
(R):5'- ATCTGGGCTTTGCTGATGTATAATTC -3'
|
Posted On |
2015-11-11 |