Incidental Mutation 'R9780:Msh4'
ID 733964
Institutional Source Beutler Lab
Gene Symbol Msh4
Ensembl Gene ENSMUSG00000005493
Gene Name mutS homolog 4
Synonyms mMsh4, 4930485C04Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.477) question?
Stock # R9780 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 153857149-153906138 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 153876705 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 510 (Y510C)
Ref Sequence ENSEMBL: ENSMUSP00000005630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005630] [ENSMUST00000188338] [ENSMUST00000190449]
AlphaFold Q99MT2
Predicted Effect probably damaging
Transcript: ENSMUST00000005630
AA Change: Y510C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: Y510C

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 damaging
Transcript: ENSMUST00000188338
AA Change: Y422C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: Y422C

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 damaging
Transcript: ENSMUST00000190449
AA Change: Y316C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: Y316C

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,228,639 E2123G probably benign Het
6030419C18Rik A G 9: 58,499,598 N264D probably damaging Het
Abca14 A G 7: 120,312,224 T1344A probably benign Het
Actrt3 T A 3: 30,598,727 I73F probably damaging Het
Ankrd24 T C 10: 81,646,362 S915P possibly damaging Het
Ano1 A T 7: 144,655,621 F281I probably damaging Het
Arhgap42 A G 9: 9,059,101 V148A probably benign Het
Arnt2 A G 7: 84,305,218 I256T probably benign Het
Bloc1s3 G A 7: 19,507,483 S40L possibly damaging Het
Cep68 G A 11: 20,242,142 P19L probably benign Het
Chst9 T A 18: 15,453,164 Q114L probably benign Het
Cpa2 T A 6: 30,545,537 F106I probably benign Het
Crocc T C 4: 141,029,245 D1187G probably benign Het
Dhx8 A T 11: 101,741,577 D454V possibly damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 73,640,611 probably benign Het
Eif3a A T 19: 60,777,960 L310H probably damaging Het
Ergic3 C A 2: 156,011,244 Y202* probably null Het
Fam117a A T 11: 95,377,483 I237L possibly damaging Het
Fuk T C 8: 110,887,111 M773V probably benign Het
Gcnt4 T A 13: 96,947,440 S415T probably benign Het
Hacl1 C A 14: 31,640,562 V43L possibly damaging Het
Hbb-bh2 A G 7: 103,840,417 L4P probably damaging Het
Hmbs A G 9: 44,336,688 L357P probably damaging Het
Hpcal1 A G 12: 17,786,493 Y108C probably damaging Het
Hspa14 A T 2: 3,489,704 M482K probably damaging Het
Ifi27l2b G T 12: 103,451,202 P242Q unknown Het
Itpr1 T C 6: 108,510,834 V2407A probably benign Het
Lcp1 T C 14: 75,202,738 F154S probably damaging Het
Lmod2 T C 6: 24,604,234 S403P probably damaging Het
Lrrc63 G A 14: 75,123,060 A334V probably damaging Het
Lrriq1 T A 10: 103,189,963 T933S probably damaging Het
Mga A G 2: 119,916,772 Y468C probably benign Het
Myh11 T C 16: 14,246,749 K235R Het
Nek2 A T 1: 191,822,626 D150V probably damaging Het
Nfkbil1 C A 17: 35,220,922 R205L possibly damaging Het
Nox3 A G 17: 3,685,985 F122S possibly damaging Het
Nrxn1 A G 17: 90,623,614 V718A possibly damaging Het
Olfr1154 A G 2: 87,903,082 L198P probably damaging Het
Olfr1388 G A 11: 49,444,187 C112Y possibly damaging Het
Olfr64 A G 7: 103,893,424 S104P probably damaging Het
Olfr70 G A 4: 43,697,193 probably benign Het
Oplah A G 15: 76,297,740 I1061T probably damaging Het
Pcf11 A T 7: 92,664,105 D123E possibly damaging Het
Pcna C T 2: 132,252,874 E55K probably benign Het
Pip5k1c T C 10: 81,305,196 V46A probably benign Het
Plce1 T G 19: 38,620,690 L481R possibly damaging Het
Psma7 A T 2: 180,036,546 Y228N unknown Het
Rcbtb1 T A 14: 59,228,347 Y380N probably benign Het
Rin2 A T 2: 145,876,631 E677V probably damaging Het
Scgb2b11 A G 7: 32,210,436 L75P probably damaging Het
Scn4a A G 11: 106,335,409 V775A probably damaging Het
Setx A G 2: 29,126,987 D34G possibly damaging Het
Slc38a9 A T 13: 112,726,057 D430V probably damaging Het
Snapc4 A T 2: 26,377,007 N77K possibly damaging Het
Stk32a T G 18: 43,241,984 F20V probably benign Het
Taf1b G A 12: 24,514,819 G145D probably damaging Het
Tomt G C 7: 101,900,329 Q251E probably benign Het
Tsc1 G A 2: 28,675,749 E471K probably damaging Het
Ttll9 G A 2: 152,994,103 A256T possibly damaging Het
Ttn A T 2: 76,943,945 C2252S probably benign Het
Ttn A T 2: 76,954,691 D797E unknown Het
Usf3 T A 16: 44,218,818 N1220K possibly damaging Het
Usp22 A T 11: 61,159,243 H355Q probably benign Het
Virma T A 4: 11,513,442 V432E possibly damaging Het
Vtn A C 11: 78,502,177 D456A probably damaging Het
Zbbx A G 3: 75,038,052 S688P probably damaging Het
Zfhx2 C A 14: 55,075,037 D67Y probably benign Het
Zfp87 T C 13: 67,517,122 H407R probably 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
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
R7384:Msh4 UTSW 3 153888748 missense probably benign 0.23
R7408:Msh4 UTSW 3 153876745 missense probably benign 0.06
R7487:Msh4 UTSW 3 153863510 missense probably damaging 1.00
R7503:Msh4 UTSW 3 153867750 missense probably damaging 1.00
R7726:Msh4 UTSW 3 153866320 critical splice donor site probably null
R7990:Msh4 UTSW 3 153896892 missense probably damaging 1.00
R8097:Msh4 UTSW 3 153877908 critical splice donor site probably null
R8805:Msh4 UTSW 3 153857633 missense probably benign 0.00
R8814:Msh4 UTSW 3 153872320 missense probably damaging 1.00
R8861:Msh4 UTSW 3 153901468 missense probably benign 0.04
R8970:Msh4 UTSW 3 153869732 nonsense probably null
R9010:Msh4 UTSW 3 153890182 missense probably benign 0.30
R9338:Msh4 UTSW 3 153867807 missense possibly damaging 0.55
R9598:Msh4 UTSW 3 153901511 missense possibly damaging 0.93
Z1177:Msh4 UTSW 3 153879368 missense probably benign 0.00
Z1177:Msh4 UTSW 3 153901443 start gained probably benign
Predicted Primers PCR Primer
(F):5'- TCCAGCACGATGACATCATTC -3'
(R):5'- AACTCTCAACAAAGGTTTGGTTTC -3'

Sequencing Primer
(F):5'- TAAAGGGTTGTGCCACCAGGTC -3'
(R):5'- TTCATTAACGGTGAAAGTGGC -3'
Posted On 2022-11-14