Incidental Mutation 'R0057:Msh4'
| ID |
216067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh4
|
| Ensembl Gene |
ENSMUSG00000005493 |
| Gene Name |
mutS homolog 4 |
| Synonyms |
mMsh4, 4930485C04Rik |
| MMRRC Submission |
038351-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.477)
|
| Stock # |
R0057 (G1)
|
| Quality Score |
28 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
153857149-153906138 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 153869681 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 686
(A686T)
|
| 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: A686T
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: A686T
| 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: A598T
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: A598T
| 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: A492T
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: A492T
| 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
|
| Meta Mutation Damage Score |
0.1241 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
100% (50/50) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
A |
1: 63,570,919 |
H693Q |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,470,389 |
|
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,744,221 |
|
probably benign |
Het |
| Caskin1 |
A |
G |
17: 24,504,896 |
N886S |
probably damaging |
Het |
| Ctse |
G |
T |
1: 131,663,371 |
D97Y |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,569,310 |
V490A |
probably benign |
Het |
| Dctn1 |
A |
G |
6: 83,179,892 |
H7R |
probably benign |
Het |
| Dscam |
A |
C |
16: 96,673,736 |
W1209G |
probably damaging |
Het |
| Fuk |
C |
T |
8: 110,893,768 |
|
probably benign |
Het |
| Gna11 |
A |
G |
10: 81,530,940 |
M312T |
probably benign |
Het |
| Hacd2 |
T |
A |
16: 35,075,627 |
V105D |
probably damaging |
Het |
| Htra4 |
C |
A |
8: 25,038,808 |
V23L |
probably benign |
Het |
| Marf1 |
C |
T |
16: 14,142,534 |
A549T |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,390,957 |
M1096K |
probably benign |
Het |
| Olfr1022 |
C |
A |
2: 85,869,253 |
Y220* |
probably null |
Het |
| Ppp1r16a |
C |
T |
15: 76,690,799 |
|
probably benign |
Het |
| Prlr |
A |
G |
15: 10,328,423 |
Y328C |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,180,191 |
V68I |
probably benign |
Het |
| Shmt2 |
G |
A |
10: 127,521,048 |
T31M |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 73,975,032 |
R81C |
probably damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,406,420 |
T298A |
probably benign |
Het |
| Tmem175 |
C |
T |
5: 108,639,562 |
H92Y |
probably damaging |
Het |
| Top3a |
C |
T |
11: 60,740,684 |
A951T |
probably benign |
Het |
| Trpc4ap |
T |
C |
2: 155,640,486 |
E528G |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,786,755 |
C242R |
probably benign |
Het |
| Vwa7 |
G |
A |
17: 35,024,547 |
S710N |
possibly damaging |
Het |
| Zfa-ps |
A |
T |
10: 52,545,106 |
|
noncoding transcript |
Het |
| Zfp770 |
T |
A |
2: 114,197,232 |
R119* |
probably null |
Het |
|
| Other mutations in Msh4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00862:Msh4
|
APN |
3 |
153883735 |
missense |
possibly damaging |
0.88 |
|
IGL01098:Msh4
|
APN |
3 |
153877982 |
splice site |
probably benign |
|
|
IGL01609:Msh4
|
APN |
3 |
153897397 |
missense |
probably damaging |
1.00 |
|
IGL01785:Msh4
|
APN |
3 |
153857507 |
missense |
probably damaging |
1.00 |
|
IGL01939:Msh4
|
APN |
3 |
153857589 |
missense |
probably damaging |
1.00 |
|
IGL02022:Msh4
|
APN |
3 |
153886956 |
missense |
probably damaging |
1.00 |
|
IGL02209:Msh4
|
APN |
3 |
153888862 |
missense |
probably damaging |
1.00 |
|
IGL02224:Msh4
|
APN |
3 |
153890185 |
missense |
possibly damaging |
0.94 |
|
IGL02240:Msh4
|
APN |
3 |
153873674 |
missense |
probably damaging |
0.98 |
|
IGL02493:Msh4
|
APN |
3 |
153877908 |
critical splice donor site |
probably null |
|
|
IGL02576:Msh4
|
APN |
3 |
153867746 |
missense |
probably damaging |
1.00 |
|
IGL02616:Msh4
|
APN |
3 |
153857523 |
missense |
probably benign |
|
|
IGL02812:Msh4
|
APN |
3 |
153901400 |
splice site |
probably benign |
|
|
IGL02888:Msh4
|
APN |
3 |
153896913 |
nonsense |
probably null |
|
|
IGL02992:Msh4
|
APN |
3 |
153872325 |
missense |
possibly damaging |
0.79 |
|
IGL03191:Msh4
|
APN |
3 |
153869608 |
missense |
probably damaging |
0.97 |
|
P0021:Msh4
|
UTSW |
3 |
153888818 |
missense |
probably damaging |
1.00 |
|
R0057:Msh4
|
UTSW |
3 |
153869681 |
missense |
probably benign |
0.16 |
|
R0368:Msh4
|
UTSW |
3 |
153888825 |
missense |
probably damaging |
1.00 |
|
R0377:Msh4
|
UTSW |
3 |
153896890 |
missense |
probably benign |
0.00 |
|
R0631:Msh4
|
UTSW |
3 |
153866420 |
missense |
probably benign |
0.02 |
|
R0632:Msh4
|
UTSW |
3 |
153896895 |
missense |
probably damaging |
1.00 |
|
R0677:Msh4
|
UTSW |
3 |
153879367 |
missense |
possibly damaging |
0.69 |
|
R0909:Msh4
|
UTSW |
3 |
153863504 |
missense |
probably benign |
0.00 |
|
R1081:Msh4
|
UTSW |
3 |
153872358 |
missense |
probably benign |
0.06 |
|
R1463:Msh4
|
UTSW |
3 |
153857570 |
missense |
probably damaging |
1.00 |
|
R1476:Msh4
|
UTSW |
3 |
153863384 |
missense |
probably damaging |
1.00 |
|
R1669:Msh4
|
UTSW |
3 |
153876720 |
missense |
possibly damaging |
0.47 |
|
R1733:Msh4
|
UTSW |
3 |
153867767 |
missense |
probably damaging |
1.00 |
|
R1859:Msh4
|
UTSW |
3 |
153905880 |
missense |
probably benign |
|
|
R2168:Msh4
|
UTSW |
3 |
153867835 |
nonsense |
probably null |
|
|
R2378:Msh4
|
UTSW |
3 |
153863477 |
missense |
probably damaging |
0.99 |
|
R2991:Msh4
|
UTSW |
3 |
153905860 |
missense |
probably benign |
|
|
R3025:Msh4
|
UTSW |
3 |
153863491 |
missense |
probably damaging |
1.00 |
|
R4604:Msh4
|
UTSW |
3 |
153872283 |
missense |
probably damaging |
1.00 |
|
R4757:Msh4
|
UTSW |
3 |
153879387 |
missense |
probably damaging |
0.99 |
|
R5205:Msh4
|
UTSW |
3 |
153866412 |
missense |
probably damaging |
1.00 |
|
R5285:Msh4
|
UTSW |
3 |
153873713 |
missense |
probably benign |
0.03 |
|
R5766:Msh4
|
UTSW |
3 |
153867840 |
missense |
probably damaging |
1.00 |
|
R5777:Msh4
|
UTSW |
3 |
153863439 |
missense |
probably benign |
0.01 |
|
R5888:Msh4
|
UTSW |
3 |
153867723 |
critical splice donor site |
probably null |
|
|
R7384:Msh4
|
UTSW |
3 |
153888748 |
missense |
probably benign |
0.23 |
|
R7408:Msh4
|
UTSW |
3 |
153876745 |
missense |
probably benign |
0.06 |
|
R7487:Msh4
|
UTSW |
3 |
153863510 |
missense |
probably damaging |
1.00 |
|
R7503:Msh4
|
UTSW |
3 |
153867750 |
missense |
probably damaging |
1.00 |
|
R7726:Msh4
|
UTSW |
3 |
153866320 |
critical splice donor site |
probably null |
|
|
R7990:Msh4
|
UTSW |
3 |
153896892 |
missense |
probably damaging |
1.00 |
|
R8097:Msh4
|
UTSW |
3 |
153877908 |
critical splice donor site |
probably null |
|
|
R8805:Msh4
|
UTSW |
3 |
153857633 |
missense |
probably benign |
0.00 |
|
R8814:Msh4
|
UTSW |
3 |
153872320 |
missense |
probably damaging |
1.00 |
|
R8861:Msh4
|
UTSW |
3 |
153901468 |
missense |
probably benign |
0.04 |
|
R8970:Msh4
|
UTSW |
3 |
153869732 |
nonsense |
probably null |
|
|
R9010:Msh4
|
UTSW |
3 |
153890182 |
missense |
probably benign |
0.30 |
|
R9338:Msh4
|
UTSW |
3 |
153867807 |
missense |
possibly damaging |
0.55 |
|
R9598:Msh4
|
UTSW |
3 |
153901511 |
missense |
possibly damaging |
0.93 |
|
R9780:Msh4
|
UTSW |
3 |
153876705 |
missense |
probably damaging |
1.00 |
|
Z1177:Msh4
|
UTSW |
3 |
153879368 |
missense |
probably benign |
0.00 |
|
Z1177:Msh4
|
UTSW |
3 |
153901443 |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGAGTGGTTCTTGTTCAAACCTCC -3'
(R):5'- AGCTGTGAAGCAGTGTGTAGGC -3'
Sequencing Primer
(F):5'- TTGTTCAAACCTCCACAACTGG -3'
(R):5'- AGGTAAGCCCTTTATCTAGAGGAGTC -3'
|
| Posted On |
2014-07-21 |
Incidental Mutation