Incidental Mutation 'IGL01785:Msh4'
ID153778
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: 0.564) question?
Stock #IGL01785
Quality Score
Status
Chromosome3
Chromosomal Location153857149-153906138 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 153857507 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 744 (L744P)
Ref Sequence ENSEMBL: ENSMUSP00000140265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005630] [ENSMUST00000044089] [ENSMUST00000188338] [ENSMUST00000190449] [ENSMUST00000198849]
Predicted Effect probably damaging
Transcript: ENSMUST00000005630
AA Change: L938P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: L938P

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 probably benign
Transcript: ENSMUST00000044089
SMART Domains Protein: ENSMUSP00000041293
Gene: ENSMUSG00000038997

DomainStartEndE-ValueType
ANK 93 123 3.81e2 SMART
ANK 146 176 2.83e0 SMART
SOCS_box 253 294 9.96e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186220
Predicted Effect probably damaging
Transcript: ENSMUST00000188338
AA Change: L850P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: L850P

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 noncoding transcript
Transcript: ENSMUST00000189189
Predicted Effect probably damaging
Transcript: ENSMUST00000190449
AA Change: L744P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: L744P

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: ENSMUST00000191083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191606
Predicted Effect probably benign
Transcript: ENSMUST00000198849
SMART Domains Protein: ENSMUSP00000142678
Gene: ENSMUSG00000038997

DomainStartEndE-ValueType
Blast:ANK 93 123 3e-14 BLAST
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,915,058 Y309* probably null Het
Abhd18 G A 3: 40,905,904 R42Q probably damaging Het
Ano3 T A 2: 110,682,715 Q645L probably damaging Het
Clasp1 T A 1: 118,497,736 L272Q possibly damaging Het
Clec1b A G 6: 129,403,562 D115G probably damaging Het
Clec2e A T 6: 129,093,401 probably benign Het
Corin T C 5: 72,339,876 N532S probably damaging Het
Csn1s2b A G 5: 87,809,913 K2R possibly damaging Het
Mcm8 A G 2: 132,827,948 D314G probably benign Het
Mga T A 2: 119,902,912 D80E probably damaging Het
Myof A T 19: 37,980,423 L348* probably null Het
Olfr1348 T C 7: 6,501,900 I109V probably benign Het
Olfr530 T A 7: 140,373,125 M162L probably benign Het
Otud3 T C 4: 138,896,897 D278G probably benign Het
Pdpr C A 8: 111,129,656 H670Q probably damaging Het
Phf21b C A 15: 84,808,061 probably benign Het
Polr3a G A 14: 24,484,120 Q106* probably null Het
Ptprm G T 17: 66,685,623 N1366K probably damaging Het
Slc10a5 G A 3: 10,335,199 P134S probably benign Het
Slc30a9 A G 5: 67,346,238 probably benign Het
Stat6 T A 10: 127,657,227 V576D probably damaging Het
Tmem132d T C 5: 127,984,315 I408V probably benign Het
Tmem50a T C 4: 134,898,447 E153G probably damaging Het
Tmod4 A G 3: 95,125,618 T22A probably benign Het
Tmprss7 C T 16: 45,680,634 G268D probably damaging Het
Tor1a A G 2: 30,963,703 probably null Het
Ttc29 T C 8: 78,282,341 L280P probably damaging Het
Tusc5 G A 11: 76,680,466 V103I probably benign Het
Usp20 A G 2: 31,017,163 E594G probably benign Het
Vmn1r31 A C 6: 58,472,724 M3R possibly damaging Het
Other mutations in Msh4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 On2014-02-04