Incidental Mutation 'R5209:Msh3'
ID 470594
Institutional Source Beutler Lab
Gene Symbol Msh3
Ensembl Gene ENSMUSG00000014850
Gene Name mutS homolog 3
Synonyms Rep3, D13Em1, Rep-3
MMRRC Submission 042784-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R5209 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 92348387-92491515 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 92481462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022220] [ENSMUST00000022220] [ENSMUST00000022220] [ENSMUST00000022220] [ENSMUST00000185852] [ENSMUST00000185852] [ENSMUST00000185852] [ENSMUST00000185852] [ENSMUST00000187874] [ENSMUST00000190393] [ENSMUST00000191550] [ENSMUST00000191509]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000022220
SMART Domains Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Pfam:MutS_I 188 301 1.6e-35 PFAM
Pfam:MutS_II 324 481 2.2e-36 PFAM
MUTSd 513 828 7.62e-97 SMART
MUTSac 847 1049 9.7e-122 SMART
Predicted Effect probably null
Transcript: ENSMUST00000022220
SMART Domains Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Pfam:MutS_I 188 301 1.6e-35 PFAM
Pfam:MutS_II 324 481 2.2e-36 PFAM
MUTSd 513 828 7.62e-97 SMART
MUTSac 847 1049 9.7e-122 SMART
Predicted Effect probably null
Transcript: ENSMUST00000022220
SMART Domains Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Pfam:MutS_I 188 301 1.6e-35 PFAM
Pfam:MutS_II 324 481 2.2e-36 PFAM
MUTSd 513 828 7.62e-97 SMART
MUTSac 847 1049 9.7e-122 SMART
Predicted Effect probably null
Transcript: ENSMUST00000022220
SMART Domains Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Pfam:MutS_I 188 301 1.6e-35 PFAM
Pfam:MutS_II 324 481 2.2e-36 PFAM
MUTSd 513 828 7.62e-97 SMART
MUTSac 847 1049 9.7e-122 SMART
Predicted Effect probably null
Transcript: ENSMUST00000185852
SMART Domains Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Pfam:MutS_I 188 301 7.2e-35 PFAM
Pfam:MutS_II 324 481 2.2e-36 PFAM
MUTSd 513 828 7.62e-97 SMART
MUTSac 847 1049 9.7e-122 SMART
Predicted Effect probably null
Transcript: ENSMUST00000185852
SMART Domains Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Pfam:MutS_I 188 301 7.2e-35 PFAM
Pfam:MutS_II 324 481 2.2e-36 PFAM
MUTSd 513 828 7.62e-97 SMART
MUTSac 847 1049 9.7e-122 SMART
Predicted Effect probably null
Transcript: ENSMUST00000185852
SMART Domains Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Pfam:MutS_I 188 301 7.2e-35 PFAM
Pfam:MutS_II 324 481 2.2e-36 PFAM
MUTSd 513 828 7.62e-97 SMART
MUTSac 847 1049 9.7e-122 SMART
Predicted Effect probably null
Transcript: ENSMUST00000185852
SMART Domains Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Pfam:MutS_I 188 301 7.2e-35 PFAM
Pfam:MutS_II 324 481 2.2e-36 PFAM
MUTSd 513 828 7.62e-97 SMART
MUTSac 847 1049 9.7e-122 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187831
Predicted Effect probably benign
Transcript: ENSMUST00000187874
SMART Domains Protein: ENSMUSP00000139620
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189376
Predicted Effect probably benign
Transcript: ENSMUST00000190393
SMART Domains Protein: ENSMUSP00000141163
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Pfam:MutS_I 188 241 6.4e-10 PFAM
low complexity region 261 285 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191550
SMART Domains Protein: ENSMUSP00000140659
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191509
SMART Domains Protein: ENSMUSP00000141158
Gene: ENSMUSG00000014850

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Meta Mutation Damage Score 0.9500 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a partial defect mismatch repair and development of intestinal tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,832,130 (GRCm39) V500A probably benign Het
Abcg4 A G 9: 44,186,672 (GRCm39) Y491H probably damaging Het
Adgb C A 10: 10,274,681 (GRCm39) V759L possibly damaging Het
Adprhl1 T A 8: 13,292,563 (GRCm39) K243* probably null Het
Arhgap24 T A 5: 103,040,015 (GRCm39) D317E probably benign Het
Arhgef5 A T 6: 43,250,634 (GRCm39) I462F probably benign Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Btbd18 A G 2: 84,498,443 (GRCm39) T694A possibly damaging Het
Ces1d A T 8: 93,901,816 (GRCm39) probably benign Het
Chmp2a C A 7: 12,766,601 (GRCm39) V106F probably damaging Het
Cinp T C 12: 110,840,494 (GRCm39) E219G probably benign Het
Col5a3 C T 9: 20,689,939 (GRCm39) probably benign Het
Dnhd1 T G 7: 105,345,667 (GRCm39) S2271A probably benign Het
Epg5 T A 18: 77,994,497 (GRCm39) L376H probably damaging Het
Fam81a T C 9: 70,032,442 (GRCm39) T17A probably benign Het
Fgd2 T A 17: 29,587,350 (GRCm39) probably null Het
Gjc3 C T 5: 137,955,533 (GRCm39) V251I probably benign Het
Gnaz T G 10: 74,827,823 (GRCm39) F192V probably benign Het
Hmgcr T C 13: 96,803,020 (GRCm39) probably benign Het
Mamdc4 G T 2: 25,456,935 (GRCm39) A614E probably damaging Het
Mapk8ip2 A T 15: 89,343,490 (GRCm39) Q713L probably damaging Het
Mettl1 T C 10: 126,881,203 (GRCm39) V238A possibly damaging Het
Ms4a4c G A 19: 11,393,802 (GRCm39) G74E probably damaging Het
Mtmr14 T A 6: 113,230,736 (GRCm39) Y113* probably null Het
Mylk T C 16: 34,742,995 (GRCm39) L1169P possibly damaging Het
Npr3 A G 15: 11,848,689 (GRCm39) V426A possibly damaging Het
Or12d15 T C 17: 37,693,721 (GRCm39) S88P probably damaging Het
Or5au1 T C 14: 52,273,410 (GRCm39) T53A probably benign Het
Or6c202 A C 10: 128,996,801 (GRCm39) D17E possibly damaging Het
Or8b1c T A 9: 38,384,817 (GRCm39) M258K possibly damaging Het
Pcdhb17 T C 18: 37,620,514 (GRCm39) F768S probably damaging Het
Piezo2 T C 18: 63,166,000 (GRCm39) N2077S probably damaging Het
Pkd1l2 G A 8: 117,783,181 (GRCm39) P713L probably benign Het
Primpol T C 8: 47,043,295 (GRCm39) T333A probably benign Het
Pth2r A T 1: 65,427,856 (GRCm39) T510S probably benign Het
Ptprr A T 10: 115,998,514 (GRCm39) E208V probably damaging Het
Rag1 T C 2: 101,474,560 (GRCm39) Y194C probably benign Het
Reep5 A T 18: 34,490,293 (GRCm39) probably null Het
Rexo5 T A 7: 119,433,522 (GRCm39) Y493* probably null Het
Rgs9 T C 11: 109,130,420 (GRCm39) probably null Het
Rps6ka1 A T 4: 133,593,129 (GRCm39) V218D probably damaging Het
Satb1 A T 17: 52,116,235 (GRCm39) M16K probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slfn14 A G 11: 83,170,459 (GRCm39) F395S possibly damaging Het
Spata31h1 T C 10: 82,119,652 (GRCm39) T4453A possibly damaging Het
Sptbn5 T A 2: 119,902,483 (GRCm39) I82F probably benign Het
Stam T A 2: 14,151,158 (GRCm39) I505K probably benign Het
Tesk2 G A 4: 116,581,895 (GRCm39) probably benign Het
Trappc12 T C 12: 28,787,793 (GRCm39) K430R probably benign Het
Trmo T C 4: 46,387,740 (GRCm39) N34D probably damaging Het
Ubr2 C A 17: 47,279,350 (GRCm39) C686F probably damaging Het
Vdac1 C T 11: 52,267,279 (GRCm39) T60I probably damaging Het
Zfp652 G C 11: 95,654,491 (GRCm39) R478P possibly damaging Het
Other mutations in Msh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Msh3 APN 13 92,481,472 (GRCm39) missense probably damaging 1.00
IGL00983:Msh3 APN 13 92,436,785 (GRCm39) missense probably damaging 1.00
IGL01490:Msh3 APN 13 92,436,813 (GRCm39) missense probably damaging 1.00
IGL02072:Msh3 APN 13 92,436,803 (GRCm39) missense probably damaging 1.00
IGL02313:Msh3 APN 13 92,485,820 (GRCm39) missense possibly damaging 0.86
IGL02711:Msh3 APN 13 92,487,819 (GRCm39) missense probably damaging 1.00
IGL03108:Msh3 APN 13 92,357,596 (GRCm39) splice site probably benign
IGL03227:Msh3 APN 13 92,422,468 (GRCm39) missense probably damaging 0.98
R0164:Msh3 UTSW 13 92,485,717 (GRCm39) missense probably damaging 1.00
R0164:Msh3 UTSW 13 92,485,717 (GRCm39) missense probably damaging 1.00
R0415:Msh3 UTSW 13 92,483,294 (GRCm39) missense possibly damaging 0.89
R0457:Msh3 UTSW 13 92,357,505 (GRCm39) missense probably damaging 1.00
R0659:Msh3 UTSW 13 92,481,604 (GRCm39) missense possibly damaging 0.80
R0661:Msh3 UTSW 13 92,481,604 (GRCm39) missense possibly damaging 0.80
R0686:Msh3 UTSW 13 92,487,939 (GRCm39) missense possibly damaging 0.53
R0688:Msh3 UTSW 13 92,487,939 (GRCm39) missense possibly damaging 0.53
R0707:Msh3 UTSW 13 92,483,848 (GRCm39) nonsense probably null
R1605:Msh3 UTSW 13 92,436,783 (GRCm39) missense probably null 1.00
R1622:Msh3 UTSW 13 92,481,462 (GRCm39) critical splice donor site probably null
R1771:Msh3 UTSW 13 92,349,004 (GRCm39) missense probably benign 0.05
R1970:Msh3 UTSW 13 92,386,328 (GRCm39) splice site probably benign
R1971:Msh3 UTSW 13 92,386,328 (GRCm39) splice site probably benign
R1971:Msh3 UTSW 13 92,359,784 (GRCm39) missense probably damaging 1.00
R2894:Msh3 UTSW 13 92,478,868 (GRCm39) missense probably benign 0.16
R3837:Msh3 UTSW 13 92,491,366 (GRCm39) missense probably damaging 1.00
R4119:Msh3 UTSW 13 92,490,519 (GRCm39) intron probably benign
R4225:Msh3 UTSW 13 92,422,431 (GRCm39) missense probably benign 0.03
R4881:Msh3 UTSW 13 92,402,549 (GRCm39) intron probably benign
R5118:Msh3 UTSW 13 92,445,942 (GRCm39) splice site probably benign
R5817:Msh3 UTSW 13 92,422,508 (GRCm39) missense possibly damaging 0.86
R5849:Msh3 UTSW 13 92,386,386 (GRCm39) missense possibly damaging 0.81
R5851:Msh3 UTSW 13 92,352,030 (GRCm39) missense probably benign 0.00
R5940:Msh3 UTSW 13 92,386,351 (GRCm39) missense probably damaging 1.00
R6004:Msh3 UTSW 13 92,478,922 (GRCm39) critical splice acceptor site probably null
R6363:Msh3 UTSW 13 92,349,032 (GRCm39) missense probably damaging 1.00
R6510:Msh3 UTSW 13 92,489,772 (GRCm39) nonsense probably null
R6654:Msh3 UTSW 13 92,481,550 (GRCm39) missense probably benign 0.01
R6853:Msh3 UTSW 13 92,449,080 (GRCm39) critical splice donor site probably null
R7022:Msh3 UTSW 13 92,372,096 (GRCm39) missense probably damaging 1.00
R7098:Msh3 UTSW 13 92,410,619 (GRCm39) missense possibly damaging 0.95
R7103:Msh3 UTSW 13 92,411,308 (GRCm39) missense probably benign
R7148:Msh3 UTSW 13 92,491,330 (GRCm39) missense probably benign 0.18
R7171:Msh3 UTSW 13 92,485,806 (GRCm39) missense probably benign 0.00
R7317:Msh3 UTSW 13 92,422,512 (GRCm39) missense probably damaging 1.00
R7369:Msh3 UTSW 13 92,435,770 (GRCm39) missense probably benign 0.15
R7586:Msh3 UTSW 13 92,485,840 (GRCm39) utr 3 prime probably benign
R7641:Msh3 UTSW 13 92,349,011 (GRCm39) missense probably benign 0.08
R7648:Msh3 UTSW 13 92,410,536 (GRCm39) missense probably damaging 1.00
R7674:Msh3 UTSW 13 92,349,011 (GRCm39) missense probably benign 0.08
R8125:Msh3 UTSW 13 92,435,690 (GRCm39) missense probably benign
R8252:Msh3 UTSW 13 92,357,569 (GRCm39) missense probably damaging 1.00
R8388:Msh3 UTSW 13 92,359,784 (GRCm39) missense probably damaging 1.00
R8442:Msh3 UTSW 13 92,349,020 (GRCm39) missense probably benign 0.00
R8735:Msh3 UTSW 13 92,411,374 (GRCm39) missense possibly damaging 0.94
R8986:Msh3 UTSW 13 92,483,334 (GRCm39) missense probably damaging 1.00
R9264:Msh3 UTSW 13 92,485,812 (GRCm39) missense probably benign 0.00
R9326:Msh3 UTSW 13 92,400,307 (GRCm39) missense probably benign 0.15
R9457:Msh3 UTSW 13 92,481,594 (GRCm39) missense probably benign 0.04
R9459:Msh3 UTSW 13 92,352,047 (GRCm39) missense possibly damaging 0.91
R9648:Msh3 UTSW 13 92,478,757 (GRCm39) missense probably benign 0.00
S24628:Msh3 UTSW 13 92,483,294 (GRCm39) missense possibly damaging 0.89
X0027:Msh3 UTSW 13 92,410,578 (GRCm39) missense probably damaging 0.98
X0063:Msh3 UTSW 13 92,411,293 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGCACATAGTCTGAACAATCTG -3'
(R):5'- CCTTGGAAGAATGCTGCGTG -3'

Sequencing Primer
(F):5'- GCACAGAGGGCCAAGTAACC -3'
(R):5'- GCTGCGTGAGGAAATAACCCTTTATC -3'
Posted On 2017-03-20