Incidental Mutation 'R7726:Msh4'
| ID |
595482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msh4
|
| Ensembl Gene |
ENSMUSG00000005493 |
| Gene Name |
mutS homolog 4 |
| Synonyms |
mMsh4, 4930485C04Rik |
| MMRRC Submission |
045782-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.562)
|
| Stock # |
R7726 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
153562783-153611495 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 153571957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005630]
[ENSMUST00000188338]
[ENSMUST00000190449]
|
| AlphaFold |
Q99MT2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005630
|
| SMART Domains |
Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
| 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 |
probably null
Transcript: ENSMUST00000188338
|
| SMART Domains |
Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
| 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 null
Transcript: ENSMUST00000190449
|
| SMART Domains |
Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
| 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 |
|
| Meta Mutation Damage Score |
0.9490 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (65/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
G |
8: 44,104,208 (GRCm39) |
N479T |
probably damaging |
Het |
| Add3 |
C |
G |
19: 53,227,892 (GRCm39) |
L526V |
probably damaging |
Het |
| Alas1 |
T |
C |
9: 106,124,150 (GRCm39) |
T3A |
probably benign |
Het |
| Arap3 |
C |
T |
18: 38,122,520 (GRCm39) |
D579N |
probably damaging |
Het |
| Armc6 |
C |
A |
8: 70,675,248 (GRCm39) |
D326Y |
probably damaging |
Het |
| Atp6v1e2 |
G |
A |
17: 87,251,813 (GRCm39) |
T195I |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,690,504 (GRCm39) |
E904G |
probably damaging |
Het |
| Bhlhe40 |
T |
A |
6: 108,639,559 (GRCm39) |
D112E |
probably benign |
Het |
| Brf1 |
T |
G |
12: 112,927,865 (GRCm39) |
K438T |
probably benign |
Het |
| Cabs1 |
A |
T |
5: 88,128,145 (GRCm39) |
E265D |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,429,071 (GRCm39) |
M1937L |
probably benign |
Het |
| Cd55b |
A |
T |
1: 130,339,230 (GRCm39) |
S299R |
possibly damaging |
Het |
| Chordc1 |
A |
G |
9: 18,213,510 (GRCm39) |
*120W |
probably null |
Het |
| Col17a1 |
C |
A |
19: 47,643,629 (GRCm39) |
|
probably null |
Het |
| Cpne8 |
A |
T |
15: 90,385,621 (GRCm39) |
I469K |
possibly damaging |
Het |
| Crtac1 |
G |
T |
19: 42,290,690 (GRCm39) |
S337* |
probably null |
Het |
| Cx3cl1 |
T |
C |
8: 95,506,867 (GRCm39) |
S291P |
probably damaging |
Het |
| Dhx36 |
G |
T |
3: 62,396,389 (GRCm39) |
Q423K |
probably benign |
Het |
| Eif3h |
G |
T |
15: 51,650,219 (GRCm39) |
Q322K |
possibly damaging |
Het |
| Ero1b |
A |
G |
13: 12,620,722 (GRCm39) |
*494W |
probably null |
Het |
| Exph5 |
G |
A |
9: 53,284,475 (GRCm39) |
V519I |
possibly damaging |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fam222b |
A |
G |
11: 78,044,577 (GRCm39) |
D46G |
probably damaging |
Het |
| Fbxl6 |
C |
A |
15: 76,420,086 (GRCm39) |
R509L |
probably damaging |
Het |
| Fgf14 |
T |
C |
14: 124,373,656 (GRCm39) |
Y86C |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,860,310 (GRCm39) |
I2119F |
probably benign |
Het |
| Gpr37 |
G |
A |
6: 25,669,116 (GRCm39) |
T576I |
possibly damaging |
Het |
| Hnrnpul2 |
G |
T |
19: 8,808,644 (GRCm39) |
R702L |
possibly damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,407,204 (GRCm39) |
N342S |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 105,908,401 (GRCm39) |
V339A |
probably benign |
Het |
| Klk1b9 |
A |
T |
7: 43,627,840 (GRCm39) |
N46I |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,519,751 (GRCm39) |
S1703R |
possibly damaging |
Het |
| Lyn |
C |
A |
4: 3,756,428 (GRCm39) |
Y306* |
probably null |
Het |
| Manba |
C |
T |
3: 135,223,770 (GRCm39) |
T219M |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,030,807 (GRCm39) |
|
probably null |
Het |
| Med15 |
T |
G |
16: 17,473,038 (GRCm39) |
M550L |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,312 (GRCm39) |
|
probably null |
Het |
| Myh6 |
G |
T |
14: 55,202,822 (GRCm39) |
D32E |
probably damaging |
Het |
| Ntmt2 |
A |
G |
1: 163,530,753 (GRCm39) |
C229R |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,569,544 (GRCm39) |
D419G |
possibly damaging |
Het |
| Nup155 |
C |
T |
15: 8,151,623 (GRCm39) |
P393S |
probably damaging |
Het |
| Or2y1d |
T |
A |
11: 49,321,727 (GRCm39) |
C141* |
probably null |
Het |
| Or6b2b |
A |
T |
1: 92,419,029 (GRCm39) |
F149L |
probably benign |
Het |
| Pakap |
C |
T |
4: 57,709,876 (GRCm39) |
P274S |
probably damaging |
Het |
| Papss2 |
A |
T |
19: 32,611,403 (GRCm39) |
|
probably null |
Het |
| Pcdhgc3 |
T |
C |
18: 37,939,932 (GRCm39) |
V111A |
possibly damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,577,069 (GRCm39) |
V988I |
probably benign |
Het |
| Pom121 |
C |
T |
5: 135,407,002 (GRCm39) |
G1178S |
probably damaging |
Het |
| Prss33 |
A |
G |
17: 24,053,203 (GRCm39) |
C213R |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,207,435 (GRCm39) |
|
probably null |
Het |
| Shfl |
T |
C |
9: 20,784,461 (GRCm39) |
Y182H |
possibly damaging |
Het |
| Sirpb1c |
T |
A |
3: 15,902,550 (GRCm39) |
I10F |
possibly damaging |
Het |
| Slc28a2b |
A |
G |
2: 122,317,214 (GRCm39) |
E25G |
probably damaging |
Het |
| Spata31e2 |
C |
A |
1: 26,723,579 (GRCm39) |
A534S |
probably benign |
Het |
| Spink5 |
T |
C |
18: 44,096,419 (GRCm39) |
L16P |
probably damaging |
Het |
| Sting1 |
C |
T |
18: 35,868,318 (GRCm39) |
A261T |
probably damaging |
Het |
| Stk4 |
T |
G |
2: 163,952,146 (GRCm39) |
M1R |
probably null |
Het |
| Stub1 |
A |
T |
17: 26,050,106 (GRCm39) |
Y253* |
probably null |
Het |
| Tasor |
C |
A |
14: 27,169,454 (GRCm39) |
N338K |
probably damaging |
Het |
| Tbce |
A |
G |
13: 14,203,875 (GRCm39) |
V29A |
probably damaging |
Het |
| Tchhl1 |
A |
G |
3: 93,379,065 (GRCm39) |
R590G |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,186,231 (GRCm39) |
P613L |
unknown |
Het |
| Vmn2r3 |
G |
T |
3: 64,182,939 (GRCm39) |
C253* |
probably null |
Het |
| Wfdc8 |
C |
A |
2: 164,441,906 (GRCm39) |
E215D |
possibly damaging |
Het |
| Zfp874b |
T |
C |
13: 67,621,975 (GRCm39) |
D441G |
probably benign |
Het |
| Zscan4d |
G |
T |
7: 10,899,169 (GRCm39) |
P36Q |
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 |
|
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 |
|
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'- CTCATCTATATCCTGTATGCACAAC -3'
(R):5'- ACAGCATTGCTTGGGTATAATG -3'
Sequencing Primer
(F):5'- CTGGAACTCATTCTGTAGACCAGG -3'
(R):5'- CAGCATTGCTTGGGTATAATGAATAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation