Incidental Mutation 'IGL02576:Msh4'
ID |
299219 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Msh4
|
Ensembl Gene |
ENSMUSG00000005493 |
Gene Name |
mutS homolog 4 |
Synonyms |
mMsh4, 4930485C04Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.562)
|
Stock # |
IGL02576
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
153562783-153611495 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 153573383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 563
(T563M)
|
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: T757M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005630 Gene: ENSMUSG00000005493 AA Change: T757M
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 damaging
Transcript: ENSMUST00000188338
AA Change: T669M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140190 Gene: ENSMUSG00000005493 AA Change: T669M
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 damaging
Transcript: ENSMUST00000190449
AA Change: T563M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140265 Gene: ENSMUSG00000005493 AA Change: T563M
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 |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,032,678 (GRCm39) |
I232M |
probably benign |
Het |
Ace |
G |
A |
11: 105,864,937 (GRCm39) |
V537M |
probably damaging |
Het |
Alg1 |
A |
G |
16: 5,062,393 (GRCm39) |
E425G |
possibly damaging |
Het |
Cacng3 |
G |
A |
7: 122,271,133 (GRCm39) |
S46N |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cfap65 |
A |
G |
1: 74,942,617 (GRCm39) |
S1646P |
probably damaging |
Het |
Cimap2 |
T |
C |
4: 106,448,825 (GRCm39) |
D411G |
possibly damaging |
Het |
Col20a1 |
C |
T |
2: 180,655,198 (GRCm39) |
Q1152* |
probably null |
Het |
D130043K22Rik |
A |
C |
13: 25,040,853 (GRCm39) |
T92P |
possibly damaging |
Het |
Drc3 |
T |
C |
11: 60,261,377 (GRCm39) |
M176T |
probably benign |
Het |
Esyt3 |
T |
C |
9: 99,197,278 (GRCm39) |
R851G |
probably benign |
Het |
Fbxo43 |
A |
G |
15: 36,152,321 (GRCm39) |
V496A |
probably benign |
Het |
Fut4 |
T |
A |
9: 14,662,701 (GRCm39) |
M198L |
probably damaging |
Het |
Galt |
C |
T |
4: 41,755,953 (GRCm39) |
|
probably benign |
Het |
Glipr1l1 |
A |
G |
10: 111,896,224 (GRCm39) |
K4E |
possibly damaging |
Het |
Gm9945 |
A |
G |
11: 53,371,178 (GRCm39) |
|
probably benign |
Het |
Hspa12a |
A |
C |
19: 58,787,842 (GRCm39) |
I660R |
possibly damaging |
Het |
Htr3b |
T |
C |
9: 48,856,804 (GRCm39) |
I225V |
possibly damaging |
Het |
Igf2r |
T |
C |
17: 12,967,650 (GRCm39) |
D23G |
possibly damaging |
Het |
Igsf5 |
A |
G |
16: 96,187,781 (GRCm39) |
I158V |
probably benign |
Het |
Itgae |
A |
G |
11: 73,009,331 (GRCm39) |
Y505C |
possibly damaging |
Het |
Kif16b |
A |
G |
2: 142,704,465 (GRCm39) |
|
probably benign |
Het |
Kif26b |
T |
C |
1: 178,743,912 (GRCm39) |
V1336A |
probably benign |
Het |
Kmt2d |
A |
G |
15: 98,762,001 (GRCm39) |
S450P |
unknown |
Het |
Lhfpl2 |
G |
A |
13: 94,310,734 (GRCm39) |
M1I |
probably null |
Het |
Lig4 |
A |
G |
8: 10,021,116 (GRCm39) |
I888T |
probably damaging |
Het |
Muc5ac |
C |
T |
7: 141,370,781 (GRCm39) |
A3238V |
probably benign |
Het |
Myo15b |
A |
G |
11: 115,780,879 (GRCm39) |
S1246G |
probably null |
Het |
Or5h25 |
T |
C |
16: 58,930,134 (GRCm39) |
I280V |
probably benign |
Het |
Pecam1 |
G |
A |
11: 106,562,600 (GRCm39) |
T599M |
probably damaging |
Het |
Phf3 |
G |
A |
1: 30,869,117 (GRCm39) |
P644S |
probably benign |
Het |
Pkd1l1 |
A |
C |
11: 8,794,560 (GRCm39) |
F2317C |
possibly damaging |
Het |
Prdm4 |
A |
G |
10: 85,736,801 (GRCm39) |
M613T |
possibly damaging |
Het |
Prim2 |
A |
T |
1: 33,523,798 (GRCm39) |
I371N |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,721,958 (GRCm39) |
D1316G |
probably damaging |
Het |
Rnf19b |
C |
T |
4: 128,967,315 (GRCm39) |
R285* |
probably null |
Het |
Secisbp2 |
A |
G |
13: 51,824,894 (GRCm39) |
N381D |
possibly damaging |
Het |
Slc28a2 |
T |
C |
2: 122,288,652 (GRCm39) |
I586T |
probably damaging |
Het |
Spef1 |
T |
C |
2: 131,016,562 (GRCm39) |
H11R |
possibly damaging |
Het |
Taar4 |
T |
C |
10: 23,836,909 (GRCm39) |
L173S |
probably damaging |
Het |
Tas2r123 |
T |
C |
6: 132,824,703 (GRCm39) |
F200S |
possibly damaging |
Het |
Tex16 |
T |
A |
X: 111,028,653 (GRCm39) |
L384Q |
probably benign |
Het |
Tox2 |
A |
G |
2: 163,118,100 (GRCm39) |
Q168R |
probably damaging |
Het |
Trim5 |
T |
A |
7: 103,927,624 (GRCm39) |
E172V |
probably damaging |
Het |
Txndc11 |
G |
A |
16: 10,892,881 (GRCm39) |
|
probably benign |
Het |
Vmn1r232 |
T |
A |
17: 21,134,175 (GRCm39) |
I142F |
probably benign |
Het |
Zdhhc25 |
A |
T |
15: 88,485,472 (GRCm39) |
H269L |
probably benign |
Het |
Znrf4 |
T |
C |
17: 56,819,199 (GRCm39) |
D36G |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |