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) question?
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*

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: 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*

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 null
Transcript: ENSMUST00000190449
AA Change: Y533*
SMART Domains Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: Y533*

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
Meta Mutation Damage Score 0.9716 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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