Incidental Mutation 'R2168:Msh4'
ID |
235598 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Msh4
|
Ensembl Gene |
ENSMUSG00000005493 |
Gene Name |
mutS homolog 4 |
Synonyms |
mMsh4, 4930485C04Rik |
MMRRC Submission |
040171-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.562)
|
Stock # |
R2168 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
153562783-153611495 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 153573472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 533
(Y533*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140265
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005630]
[ENSMUST00000188338]
[ENSMUST00000190449]
|
AlphaFold |
Q99MT2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000005630
AA Change: Y727*
|
SMART Domains |
Protein: ENSMUSP00000005630 Gene: ENSMUSG00000005493 AA Change: Y727*
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 null
Transcript: ENSMUST00000188338
AA Change: Y639*
|
SMART Domains |
Protein: ENSMUSP00000140190 Gene: ENSMUSG00000005493 AA Change: Y639*
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 null
Transcript: ENSMUST00000190449
AA Change: Y533*
|
SMART Domains |
Protein: ENSMUSP00000140265 Gene: ENSMUSG00000005493 AA Change: Y533*
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 |
0.9716 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (62/62) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
T |
A |
2: 127,720,701 (GRCm39) |
I188N |
probably damaging |
Het |
Akr1c14 |
T |
C |
13: 4,131,106 (GRCm39) |
V266A |
probably damaging |
Het |
Als2cl |
C |
A |
9: 110,717,810 (GRCm39) |
P301H |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Catspere2 |
C |
T |
1: 177,843,477 (GRCm39) |
|
probably benign |
Het |
Cpsf1 |
A |
T |
15: 76,487,937 (GRCm39) |
N53K |
possibly damaging |
Het |
Ctsll3 |
C |
T |
13: 60,948,749 (GRCm39) |
G69R |
possibly damaging |
Het |
F2 |
C |
T |
2: 91,458,693 (GRCm39) |
R539Q |
probably damaging |
Het |
Fam78b |
G |
A |
1: 166,906,219 (GRCm39) |
G126D |
probably damaging |
Het |
Fancd2 |
A |
G |
6: 113,568,120 (GRCm39) |
I1332V |
possibly damaging |
Het |
Flg2 |
C |
T |
3: 93,109,244 (GRCm39) |
S424L |
probably damaging |
Het |
Fpr1 |
T |
C |
17: 18,097,471 (GRCm39) |
T173A |
possibly damaging |
Het |
Gas2l3 |
A |
G |
10: 89,249,960 (GRCm39) |
V386A |
probably benign |
Het |
Gdap2 |
A |
C |
3: 100,095,199 (GRCm39) |
E269A |
probably benign |
Het |
Igf2bp2 |
T |
A |
16: 21,898,358 (GRCm39) |
|
probably null |
Het |
Ipo11 |
T |
C |
13: 107,016,118 (GRCm39) |
|
probably null |
Het |
Itpr2 |
G |
T |
6: 146,013,176 (GRCm39) |
P2667Q |
probably benign |
Het |
Itsn2 |
G |
T |
12: 4,683,044 (GRCm39) |
|
probably benign |
Het |
Jakmip2 |
A |
G |
18: 43,698,995 (GRCm39) |
L488P |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 41,265,858 (GRCm39) |
C248S |
probably damaging |
Het |
Lrrc17 |
A |
T |
5: 21,780,046 (GRCm39) |
D340V |
probably damaging |
Het |
Megf9 |
T |
C |
4: 70,351,679 (GRCm39) |
T481A |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,249,015 (GRCm39) |
S184P |
possibly damaging |
Het |
Mug1 |
A |
G |
6: 121,847,458 (GRCm39) |
N612S |
probably benign |
Het |
Nectin2 |
G |
T |
7: 19,464,539 (GRCm39) |
S288R |
probably damaging |
Het |
Neurog2 |
A |
T |
3: 127,427,754 (GRCm39) |
H126L |
probably damaging |
Het |
Nol10 |
A |
T |
12: 17,423,585 (GRCm39) |
E310V |
probably damaging |
Het |
Or1f12 |
T |
G |
13: 21,721,422 (GRCm39) |
K251T |
probably damaging |
Het |
Or4c29 |
A |
G |
2: 88,740,522 (GRCm39) |
S72P |
probably damaging |
Het |
Or51h7 |
A |
T |
7: 102,591,678 (GRCm39) |
F35L |
probably benign |
Het |
Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
Pcdhb7 |
T |
A |
18: 37,476,335 (GRCm39) |
F490L |
probably benign |
Het |
Pcsk1 |
T |
A |
13: 75,260,653 (GRCm39) |
|
probably benign |
Het |
Plekhn1 |
T |
A |
4: 156,306,339 (GRCm39) |
D577V |
probably damaging |
Het |
Prrc2c |
C |
A |
1: 162,537,903 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Pzp |
G |
A |
6: 128,465,010 (GRCm39) |
T1288M |
probably damaging |
Het |
Radil |
A |
C |
5: 142,492,718 (GRCm39) |
H63Q |
probably benign |
Het |
Rai1 |
T |
C |
11: 60,078,422 (GRCm39) |
S829P |
probably benign |
Het |
Rd3 |
A |
G |
1: 191,715,488 (GRCm39) |
I88V |
probably damaging |
Het |
Rfesd |
T |
C |
13: 76,156,244 (GRCm39) |
D54G |
probably damaging |
Het |
Rnf213 |
A |
C |
11: 119,305,896 (GRCm39) |
K568T |
probably damaging |
Het |
Scaper |
T |
A |
9: 55,650,923 (GRCm39) |
K913N |
probably damaging |
Het |
Serpina3c |
T |
C |
12: 104,115,628 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
A |
T |
13: 33,850,357 (GRCm39) |
K61N |
probably benign |
Het |
Skint4 |
A |
T |
4: 111,944,183 (GRCm39) |
|
probably null |
Het |
Sod1 |
T |
C |
16: 90,017,801 (GRCm39) |
I19T |
possibly damaging |
Het |
Stfa3 |
C |
A |
16: 36,271,042 (GRCm39) |
G81* |
probably null |
Het |
Ubr4 |
A |
G |
4: 139,137,960 (GRCm39) |
T1106A |
probably benign |
Het |
Uggt2 |
T |
A |
14: 119,256,917 (GRCm39) |
N1106Y |
probably damaging |
Het |
Vmn1r217 |
G |
A |
13: 23,298,714 (GRCm39) |
Q63* |
probably null |
Het |
Vmn2r129 |
A |
T |
4: 156,690,673 (GRCm39) |
|
noncoding transcript |
Het |
Vps13b |
C |
A |
15: 35,792,334 (GRCm39) |
P2201T |
probably damaging |
Het |
Vps13b |
C |
A |
15: 35,792,335 (GRCm39) |
P2201Q |
probably damaging |
Het |
Vps13d |
G |
T |
4: 144,813,893 (GRCm39) |
|
probably benign |
Het |
Zer1 |
A |
G |
2: 29,994,887 (GRCm39) |
C503R |
probably damaging |
Het |
Zfp369 |
T |
C |
13: 65,444,762 (GRCm39) |
V635A |
probably benign |
Het |
Zfp608 |
A |
T |
18: 55,031,125 (GRCm39) |
Y938* |
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTCTCAGGAACTAAAGTGC -3'
(R):5'- TGCACAACCTTGTATGGCAG -3'
Sequencing Primer
(F):5'- GCACCAGCAAGTCTGAATGC -3'
(R):5'- AGCTTATGGAGTGAGCAG -3'
|
Posted On |
2014-10-01 |