Incidental Mutation 'R8970:Msh4'
ID |
682996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Msh4
|
Ensembl Gene |
ENSMUSG00000005493 |
Gene Name |
mutS homolog 4 |
Synonyms |
mMsh4, 4930485C04Rik |
MMRRC Submission |
068804-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.562)
|
Stock # |
R8970 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
153562783-153611495 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 153575369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 669
(K669*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005630
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005630]
[ENSMUST00000188338]
[ENSMUST00000190449]
|
AlphaFold |
Q99MT2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000005630
AA Change: K669*
|
SMART Domains |
Protein: ENSMUSP00000005630 Gene: ENSMUSG00000005493 AA Change: K669*
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
AA Change: K581*
|
SMART Domains |
Protein: ENSMUSP00000140190 Gene: ENSMUSG00000005493 AA Change: K581*
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
AA Change: K475*
|
SMART Domains |
Protein: ENSMUSP00000140265 Gene: ENSMUSG00000005493 AA Change: K475*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
99% (69/70) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,545,726 (GRCm39) |
V467A |
probably damaging |
Het |
Abca2 |
T |
C |
2: 25,335,728 (GRCm39) |
V2113A |
probably benign |
Het |
Adam10 |
A |
G |
9: 70,655,458 (GRCm39) |
N309D |
probably benign |
Het |
Adcy1 |
T |
A |
11: 7,099,983 (GRCm39) |
W698R |
probably benign |
Het |
Adnp |
T |
C |
2: 168,031,290 (GRCm39) |
N7S |
possibly damaging |
Het |
Ankar |
A |
G |
1: 72,691,496 (GRCm39) |
|
probably null |
Het |
Ankrd34b |
T |
A |
13: 92,575,590 (GRCm39) |
I274K |
probably benign |
Het |
Apela |
A |
T |
8: 65,489,601 (GRCm39) |
L6H |
unknown |
Het |
Ash1l |
T |
C |
3: 88,976,307 (GRCm39) |
I2629T |
probably benign |
Het |
Auts2 |
C |
T |
5: 132,287,791 (GRCm39) |
R64K |
possibly damaging |
Het |
Bms1 |
A |
G |
6: 118,369,292 (GRCm39) |
V1003A |
possibly damaging |
Het |
C2cd3 |
T |
C |
7: 100,068,971 (GRCm39) |
V555A |
|
Het |
C2cd6 |
T |
A |
1: 59,108,895 (GRCm39) |
H252L |
possibly damaging |
Het |
Capn3 |
G |
T |
2: 120,294,566 (GRCm39) |
K71N |
possibly damaging |
Het |
Chct1 |
A |
G |
11: 85,069,246 (GRCm39) |
E198G |
probably benign |
Het |
Clec2l |
C |
A |
6: 38,657,122 (GRCm39) |
T195K |
possibly damaging |
Het |
Col27a1 |
T |
C |
4: 63,134,105 (GRCm39) |
S15P |
unknown |
Het |
Coro2b |
T |
C |
9: 62,333,809 (GRCm39) |
|
probably benign |
Het |
Crocc2 |
A |
T |
1: 93,116,687 (GRCm39) |
T233S |
probably benign |
Het |
Ddb1 |
A |
G |
19: 10,585,808 (GRCm39) |
Q174R |
probably benign |
Het |
Denr |
C |
T |
5: 124,055,279 (GRCm39) |
P48L |
probably damaging |
Het |
Dusp26 |
A |
G |
8: 31,584,232 (GRCm39) |
Y113C |
probably damaging |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Evi5l |
A |
G |
8: 4,236,154 (GRCm39) |
|
probably benign |
Het |
Fgf2 |
G |
T |
3: 37,458,767 (GRCm39) |
V96F |
probably benign |
Het |
Gpr139 |
A |
G |
7: 118,744,034 (GRCm39) |
Y184H |
probably damaging |
Het |
Gtf3c1 |
A |
C |
7: 125,272,227 (GRCm39) |
|
probably benign |
Het |
Gucy1b2 |
A |
G |
14: 62,656,664 (GRCm39) |
V231A |
possibly damaging |
Het |
Gucy2g |
T |
C |
19: 55,191,478 (GRCm39) |
E991G |
possibly damaging |
Het |
Gvin1 |
A |
T |
7: 105,762,647 (GRCm39) |
H607Q |
probably damaging |
Het |
Hal |
T |
C |
10: 93,325,036 (GRCm39) |
V15A |
probably damaging |
Het |
Hes3 |
A |
G |
4: 152,376,036 (GRCm39) |
|
probably null |
Het |
Il11 |
A |
G |
7: 4,779,181 (GRCm39) |
L72P |
probably damaging |
Het |
Iqsec3 |
T |
A |
6: 121,366,528 (GRCm39) |
I785F |
probably damaging |
Het |
Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
Lrpprc |
T |
A |
17: 85,074,483 (GRCm39) |
T475S |
probably damaging |
Het |
Lrrc63 |
T |
A |
14: 75,362,631 (GRCm39) |
T300S |
unknown |
Het |
Lsamp |
A |
T |
16: 41,994,528 (GRCm39) |
I331F |
possibly damaging |
Het |
Ltn1 |
A |
T |
16: 87,212,926 (GRCm39) |
I545K |
probably benign |
Het |
Mab21l4 |
G |
C |
1: 93,087,533 (GRCm39) |
P107A |
probably benign |
Het |
Med13l |
G |
A |
5: 118,883,164 (GRCm39) |
R1341H |
probably damaging |
Het |
Myo10 |
T |
A |
15: 25,803,467 (GRCm39) |
L1558H |
possibly damaging |
Het |
Ncbp1 |
G |
A |
4: 46,170,023 (GRCm39) |
V699M |
probably damaging |
Het |
Or12k8 |
T |
A |
2: 36,975,478 (GRCm39) |
Y94F |
probably benign |
Het |
Or56b1b |
A |
G |
7: 108,164,997 (GRCm39) |
S2P |
probably benign |
Het |
Or5b114-ps1 |
T |
G |
19: 13,353,117 (GRCm39) |
S264A |
unknown |
Het |
Or5b99 |
T |
A |
19: 12,976,353 (GRCm39) |
M1K |
probably null |
Het |
Parpbp |
G |
A |
10: 87,962,186 (GRCm39) |
R165W |
probably damaging |
Het |
Pcdhgb7 |
T |
A |
18: 37,885,631 (GRCm39) |
M267K |
probably benign |
Het |
Pitx3 |
T |
A |
19: 46,125,540 (GRCm39) |
H68L |
possibly damaging |
Het |
Ppfia4 |
A |
G |
1: 134,252,289 (GRCm39) |
L395P |
probably damaging |
Het |
Pramel42 |
T |
C |
5: 94,685,645 (GRCm39) |
V435A |
probably benign |
Het |
Ptprh |
T |
C |
7: 4,583,944 (GRCm39) |
D216G |
possibly damaging |
Het |
Ptprs |
A |
G |
17: 56,730,353 (GRCm39) |
S1174P |
possibly damaging |
Het |
Shf |
A |
G |
2: 122,187,654 (GRCm39) |
S51P |
probably benign |
Het |
Sinhcaf |
A |
T |
6: 148,834,624 (GRCm39) |
F2I |
probably damaging |
Het |
Slc19a3 |
A |
T |
1: 83,000,822 (GRCm39) |
L65Q |
probably damaging |
Het |
Srgap2 |
G |
A |
1: 131,226,104 (GRCm39) |
L390F |
|
Het |
Srpk1 |
T |
C |
17: 28,818,493 (GRCm39) |
T448A |
probably benign |
Het |
Stat5a |
A |
G |
11: 100,771,353 (GRCm39) |
D612G |
probably benign |
Het |
Supt4a |
A |
T |
11: 87,633,645 (GRCm39) |
E67V |
probably benign |
Het |
Tango6 |
T |
A |
8: 107,415,871 (GRCm39) |
C231S |
probably damaging |
Het |
Th |
A |
G |
7: 142,446,796 (GRCm39) |
L490P |
probably damaging |
Het |
Tpcn1 |
C |
T |
5: 120,682,518 (GRCm39) |
G497S |
probably damaging |
Het |
Trim10 |
A |
T |
17: 37,184,168 (GRCm39) |
I254F |
probably benign |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Vmn2r124 |
G |
T |
17: 18,294,439 (GRCm39) |
R842L |
probably benign |
Het |
Vmn2r56 |
T |
C |
7: 12,428,632 (GRCm39) |
R545G |
probably damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,222,244 (GRCm39) |
T659A |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,852,803 (GRCm39) |
M2361T |
probably benign |
Het |
Zfp217 |
T |
C |
2: 169,956,997 (GRCm39) |
D667G |
possibly damaging |
Het |
Zfp952 |
T |
G |
17: 33,221,810 (GRCm39) |
C96W |
probably benign |
Het |
Zfp959 |
A |
G |
17: 56,204,836 (GRCm39) |
Q291R |
possibly damaging |
Het |
Zscan4-ps3 |
T |
C |
7: 11,344,414 (GRCm39) |
V124A |
probably benign |
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 |
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 |
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'- AACTTACCGATCTGGGCCATG -3'
(R):5'- GGCAGTGAAAAGGAACTACATTCTC -3'
Sequencing Primer
(F):5'- TCTGGGCCATGATCTGACAAAGTG -3'
(R):5'- AAGGGAAATTTAGGCATATGTTTGG -3'
|
Posted On |
2021-10-11 |