Incidental Mutation 'R5118:Msh3'
ID 392761
Institutional Source Beutler Lab
Gene Symbol Msh3
Ensembl Gene ENSMUSG00000014850
Gene Name mutS homolog 3
Synonyms Rep3, D13Em1, Rep-3
MMRRC Submission 042706-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R5118 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 92348387-92491515 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 92445942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022220] [ENSMUST00000185852] [ENSMUST00000187874] [ENSMUST00000191550] [ENSMUST00000191509]
AlphaFold no structure available at present
Predicted Effect probably benign
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 benign
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 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 probably benign
Transcript: ENSMUST00000188317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190462
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 96% (52/54)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Adamts2 A G 11: 50,672,696 (GRCm39) E648G probably damaging Het
Ankrd55 A G 13: 112,492,473 (GRCm39) S187G probably benign Het
Cd44 C A 2: 102,695,715 (GRCm39) E52D probably damaging Het
Col6a5 T A 9: 105,814,204 (GRCm39) I603F unknown Het
Dmxl2 C A 9: 54,368,271 (GRCm39) R233L probably damaging Het
Dop1a T C 9: 86,388,312 (GRCm39) F429L probably damaging Het
Epsti1 T G 14: 78,224,122 (GRCm39) probably null Het
Erfe G T 1: 91,298,438 (GRCm39) probably null Het
Galnt5 A G 2: 57,905,015 (GRCm39) D526G probably damaging Het
Gatd1 A T 7: 140,986,719 (GRCm39) probably benign Het
Gm1330 T C 2: 148,844,906 (GRCm39) probably benign Het
Gm6181 G A 7: 52,405,364 (GRCm39) noncoding transcript Het
Irak2 T A 6: 113,642,772 (GRCm39) V68D probably benign Het
Kdm1a A G 4: 136,284,669 (GRCm39) probably benign Het
Kidins220 C A 12: 25,042,296 (GRCm39) Q198K probably damaging Het
Lgr5 A G 10: 115,288,244 (GRCm39) V728A possibly damaging Het
Micall2 G A 5: 139,702,202 (GRCm39) T347M probably damaging Het
Mrap2 T C 9: 87,064,756 (GRCm39) F166L possibly damaging Het
Mul1 T A 4: 138,166,660 (GRCm39) L238Q probably damaging Het
Nuak1 G T 10: 84,210,848 (GRCm39) H413Q probably benign Het
Or10j27 T C 1: 172,958,484 (GRCm39) Q100R possibly damaging Het
Pcnt C T 10: 76,248,002 (GRCm39) A931T probably damaging Het
Pramel20 T C 4: 143,297,697 (GRCm39) L39P probably damaging Het
Pramel34 T A 5: 93,785,656 (GRCm39) D208V probably benign Het
Psmb4 T C 3: 94,792,253 (GRCm39) Y223C probably damaging Het
Rbm15b G T 9: 106,763,301 (GRCm39) A289E possibly damaging Het
Reg3b T A 6: 78,349,111 (GRCm39) V79E probably damaging Het
Rsl1 A G 13: 67,330,045 (GRCm39) I164M probably damaging Het
Rtp1 T C 16: 23,250,285 (GRCm39) F217L probably benign Het
Sfmbt1 T C 14: 30,512,727 (GRCm39) L360P probably damaging Het
Sorbs2 T C 8: 46,248,822 (GRCm39) V611A probably damaging Het
Tenm4 T A 7: 96,542,293 (GRCm39) D1935E probably damaging Het
Tep1 T C 14: 51,093,044 (GRCm39) probably null Het
Tmppe T G 9: 114,234,549 (GRCm39) S283A probably benign Het
Tmtc1 A G 6: 148,171,485 (GRCm39) probably benign Het
Trp63 T C 16: 25,707,760 (GRCm39) I552T unknown Het
Tspan2 C A 3: 102,657,151 (GRCm39) D45E probably benign Het
Tut4 T A 4: 108,377,489 (GRCm39) D966E possibly damaging Het
Ubr1 T C 2: 120,712,745 (GRCm39) E1396G probably benign Het
Usp17lc A T 7: 103,067,868 (GRCm39) T388S probably benign Het
Wdr46 T C 17: 34,167,811 (GRCm39) V508A possibly damaging Het
Zfp462 T A 4: 55,010,667 (GRCm39) Y878N probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp954 T A 7: 7,118,714 (GRCm39) T277S probably benign 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
R5209:Msh3 UTSW 13 92,481,462 (GRCm39) critical splice donor site probably null
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'- TACCGTTAGTGATAAGCCTCTGAG -3'
(R):5'- TCCAAATGCAAGCTTGGTATACATG -3'

Sequencing Primer
(F):5'- cccaaaggctcatgcatt -3'
(R):5'- AACTTGGAGAAGCCTGTG -3'
Posted On 2016-06-15