Incidental Mutation 'IGL01098:Msh4'
ID50732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msh4
Ensembl Gene ENSMUSG00000005493
Gene NamemutS homolog 4
SynonymsmMsh4, 4930485C04Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.554) question?
Stock #IGL01098
Quality Score
Status
Chromosome3
Chromosomal Location153857149-153906138 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 153877982 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005630] [ENSMUST00000188338] [ENSMUST00000190449]
Predicted Effect probably benign
Transcript: ENSMUST00000005630
SMART Domains Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493

DomainStartEndE-ValueType
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: ENSMUST00000186220
Predicted Effect probably benign
Transcript: ENSMUST00000188338
SMART Domains Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000190449
SMART Domains Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493

DomainStartEndE-ValueType
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: 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,473,533 D75G possibly damaging Het
Brip1 G T 11: 86,108,862 R765S possibly damaging Het
Btbd16 T C 7: 130,823,245 I452T probably damaging Het
Cdc42ep4 T G 11: 113,729,502 D21A probably damaging Het
Cdx2 T A 5: 147,306,982 M1L possibly damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Csmd2 C T 4: 128,059,052 T98M probably damaging Het
Cyp26a1 A T 19: 37,700,002 Q324L probably benign Het
Etaa1 A G 11: 17,946,059 V686A probably damaging Het
Gpr6 G A 10: 41,070,743 T281I probably damaging Het
Herc1 T A 9: 66,461,922 probably null Het
Lama2 A T 10: 27,031,112 I2351N possibly damaging Het
Lman1 A G 18: 65,991,640 F343L probably damaging Het
Lmo1 A G 7: 109,143,450 probably benign Het
Lrrc17 T A 5: 21,575,271 F414L probably benign Het
Man2b2 A T 5: 36,815,556 L538Q probably damaging Het
Map3k9 A G 12: 81,724,154 S910P probably damaging Het
Mapk1ip1 G A 7: 138,836,462 P80S probably damaging Het
Mindy4 G T 6: 55,284,742 probably benign Het
Mta2 A G 19: 8,946,717 D187G probably damaging Het
Olfml2a A G 2: 38,947,214 probably null Het
Pink1 A T 4: 138,320,097 probably null Het
Plekha6 T C 1: 133,282,165 F575L possibly damaging Het
Rpe C A 1: 66,706,515 D71E probably benign Het
Slc5a7 C T 17: 54,292,960 A142T probably benign Het
Sptbn1 C T 11: 30,159,385 R70K probably damaging Het
Taf1c G T 8: 119,602,841 Q159K probably damaging Het
Tgfb1i1 T C 7: 128,252,521 F311S probably damaging Het
Tmc8 T C 11: 117,792,563 V648A possibly damaging Het
Tmed8 G T 12: 87,176,671 A98E probably benign Het
Tmem200a A G 10: 25,994,143 I76T probably damaging Het
Vmn2r104 T C 17: 20,048,096 E37G probably benign Het
Vmn2r18 A T 5: 151,572,831 V474E probably damaging Het
Vps52 C T 17: 33,962,730 T510I possibly damaging Het
Wwox G T 8: 114,445,378 G71* probably null Het
Zer1 C T 2: 30,108,220 probably null Het
Zfp296 A T 7: 19,577,920 K117N possibly damaging Het
Other mutations in Msh4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00862:Msh4 APN 3 153883735 missense possibly damaging 0.88
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
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
Posted On2013-06-21