Incidental Mutation 'IGL02711:Msh3'
ID 304564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msh3
Ensembl Gene ENSMUSG00000014850
Gene Name mutS homolog 3
Synonyms Rep3, D13Em1, Rep-3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # IGL02711
Quality Score
Status
Chromosome 13
Chromosomal Location 92348387-92491515 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92487819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 133 (T133A)
Ref Sequence ENSEMBL: ENSMUSP00000139622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022218] [ENSMUST00000022220] [ENSMUST00000185852] [ENSMUST00000187424] [ENSMUST00000190393] [ENSMUST00000191550] [ENSMUST00000187874] [ENSMUST00000191509]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000022218
SMART Domains Protein: ENSMUSP00000022218
Gene: ENSMUSG00000021707

DomainStartEndE-ValueType
Pfam:DHFR_1 4 185 3.9e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000022220
AA Change: T133A

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850
AA Change: T133A

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 possibly damaging
Transcript: ENSMUST00000185852
AA Change: T133A

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: T133A

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 probably damaging
Transcript: ENSMUST00000187424
AA Change: T133A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139622
Gene: ENSMUSG00000014850
AA Change: T133A

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187831
Predicted Effect probably damaging
Transcript: ENSMUST00000190393
AA Change: T133A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141163
Gene: ENSMUSG00000014850
AA Change: T133A

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 silent
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: 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: 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
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,773,245 (GRCm39) probably null Het
Adamts10 T A 17: 33,757,246 (GRCm39) M400K probably damaging Het
Adamts17 G A 7: 66,701,788 (GRCm39) probably benign Het
Adh5 A G 3: 138,160,434 (GRCm39) K323E probably damaging Het
Angptl2 T C 2: 33,118,255 (GRCm39) W10R probably benign Het
Arhgap15 T C 2: 44,006,674 (GRCm39) F264L possibly damaging Het
Atp6v1g3 T A 1: 138,211,419 (GRCm39) L33Q probably damaging Het
Baz2b A T 2: 59,747,849 (GRCm39) probably benign Het
Capn11 A G 17: 45,943,341 (GRCm39) F611S probably damaging Het
Cep152 T A 2: 125,405,862 (GRCm39) T1557S possibly damaging Het
Cep76 A T 18: 67,771,406 (GRCm39) S75R probably benign Het
Cps1 A G 1: 67,251,676 (GRCm39) probably benign Het
Dbf4 G T 5: 8,458,235 (GRCm39) A199E probably benign Het
Gldc C T 19: 30,122,546 (GRCm39) probably null Het
Hspa14 G A 2: 3,503,557 (GRCm39) A117V probably benign Het
Igkv4-80 G A 6: 68,993,801 (GRCm39) P30L probably damaging Het
Itga2b A T 11: 102,356,551 (GRCm39) W292R possibly damaging Het
Kansl1 A T 11: 104,226,401 (GRCm39) S982T probably damaging Het
Klhdc7b A T 15: 89,272,246 (GRCm39) K1043* probably null Het
Kmt2a A T 9: 44,735,820 (GRCm39) probably benign Het
Krt86 T C 15: 101,371,543 (GRCm39) Y38H probably damaging Het
Lingo4 T C 3: 94,310,700 (GRCm39) I546T probably benign Het
Lrrk1 A G 7: 65,980,515 (GRCm39) S222P probably damaging Het
Lrrk2 T C 15: 91,570,025 (GRCm39) V178A possibly damaging Het
Maml2 T C 9: 13,531,359 (GRCm39) V191A probably benign Het
Nck1 T C 9: 100,390,673 (GRCm39) D12G probably damaging Het
Nox4 T C 7: 87,046,076 (GRCm39) Y572H probably damaging Het
Nqo1 A T 8: 108,119,563 (GRCm39) L30Q probably damaging Het
Or5ak24 A T 2: 85,261,083 (GRCm39) V30E probably damaging Het
Oxr1 A G 15: 41,517,067 (GRCm39) probably benign Het
Pcare T C 17: 72,056,377 (GRCm39) D1100G probably benign Het
Pcdhb10 A C 18: 37,545,779 (GRCm39) D285A possibly damaging Het
Pclo A G 5: 14,572,322 (GRCm39) N569S unknown Het
Ppfibp1 T A 6: 146,927,736 (GRCm39) Y794* probably null Het
Ripor3 T G 2: 167,848,200 (GRCm39) probably benign Het
Rpe65 C A 3: 159,328,514 (GRCm39) H441N possibly damaging Het
St14 A G 9: 31,001,196 (GRCm39) V845A probably benign Het
Tmem116 T A 5: 121,625,804 (GRCm39) probably benign Het
Tnfrsf11b A T 15: 54,119,532 (GRCm39) D147E probably benign Het
Ttn C A 2: 76,560,466 (GRCm39) G27566* probably null Het
Zscan18 G T 7: 12,509,044 (GRCm39) 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
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
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
Posted On 2015-04-16