Incidental Mutation 'R7148:Msh3'
ID 553971
Institutional Source Beutler Lab
Gene Symbol Msh3
Ensembl Gene ENSMUSG00000014850
Gene Name mutS homolog 3
Synonyms Rep3, D13Em1, Rep-3
MMRRC Submission 045225-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R7148 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 92348387-92491515 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92491330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 27 (F27L)
Ref Sequence ENSEMBL: ENSMUSP00000140002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022218] [ENSMUST00000022220] [ENSMUST00000185852] [ENSMUST00000187424] [ENSMUST00000187874] [ENSMUST00000190393] [ENSMUST00000191509] [ENSMUST00000191550]
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
SMART Domains Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850
AA Change: F27L

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
AA Change: F27L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: F27L

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 unknown
Transcript: ENSMUST00000187424
AA Change: F27L
SMART Domains Protein: ENSMUSP00000139622
Gene: ENSMUSG00000014850
AA Change: F27L

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000187874
AA Change: F27L
SMART Domains Protein: ENSMUSP00000139620
Gene: ENSMUSG00000014850
AA Change: F27L

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190393
AA Change: F27L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000141163
Gene: ENSMUSG00000014850
AA Change: F27L

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 unknown
Transcript: ENSMUST00000191509
AA Change: F27L
SMART Domains Protein: ENSMUSP00000141158
Gene: ENSMUSG00000014850
AA Change: F27L

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191550
AA Change: F27L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140659
Gene: ENSMUSG00000014850
AA Change: F27L

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 24 40 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T A 14: 32,110,269 (GRCm39) Y14F probably damaging Het
Acly A G 11: 100,374,608 (GRCm39) V805A possibly damaging Het
Apcdd1 T C 18: 63,084,916 (GRCm39) V371A probably damaging Het
Cacna1g A T 11: 94,356,756 (GRCm39) F127I probably benign Het
Ccdc138 T C 10: 58,374,102 (GRCm39) L374P probably damaging Het
Ces2b A G 8: 105,564,928 (GRCm39) Y504C probably damaging Het
Ces5a C T 8: 94,228,950 (GRCm39) G427S probably damaging Het
Chd1l C T 3: 97,498,632 (GRCm39) V256M probably damaging Het
Col24a1 C T 3: 145,021,060 (GRCm39) T477M probably damaging Het
Dmbt1 T A 7: 130,668,464 (GRCm39) C573* probably null Het
Emcn A T 3: 137,122,855 (GRCm39) Y188F possibly damaging Het
Eva1a T G 6: 82,048,125 (GRCm39) M1R probably null Het
Fam243 T C 16: 92,117,875 (GRCm39) K138E probably benign Het
Fam83h C A 15: 75,877,016 (GRCm39) D194Y probably damaging Het
Flywch1 T C 17: 23,974,649 (GRCm39) K664E probably benign Het
Fzd9 A G 5: 135,278,544 (GRCm39) V447A probably benign Het
Heatr5b T C 17: 79,138,863 (GRCm39) D93G probably damaging Het
Hmcn1 T C 1: 150,562,605 (GRCm39) I2318V probably benign Het
Hyal5 T A 6: 24,876,901 (GRCm39) L258Q probably damaging Het
Itprid1 T C 6: 55,874,671 (GRCm39) I207T probably damaging Het
Kmo T A 1: 175,479,168 (GRCm39) C235S probably damaging Het
Lamc2 G A 1: 153,061,730 (GRCm39) P2S probably benign Het
Lman2 G A 13: 55,500,762 (GRCm39) P146S probably benign Het
Mars2 T C 1: 55,276,673 (GRCm39) I92T probably damaging Het
Myom2 T C 8: 15,134,577 (GRCm39) V460A possibly damaging Het
Nicn1 T A 9: 108,172,306 (GRCm39) *214R probably null Het
Nsd2 T C 5: 34,042,855 (GRCm39) F1040L possibly damaging Het
Or1ab2 T A 8: 72,864,001 (GRCm39) I197N possibly damaging Het
Osm T A 11: 4,189,936 (GRCm39) I240N probably benign Het
Pard3b T A 1: 62,479,191 (GRCm39) D884E probably benign Het
Pex5 T G 6: 124,382,231 (GRCm39) D150A probably benign Het
Pfkfb4 T C 9: 108,856,676 (GRCm39) V394A probably damaging Het
Pjvk A G 2: 76,488,831 (GRCm39) K334R possibly damaging Het
Pkd1l2 T C 8: 117,807,525 (GRCm39) D171G probably benign Het
Prpf4b T G 13: 35,078,455 (GRCm39) N688K probably benign Het
R3hcc1 T C 14: 69,943,001 (GRCm39) E192G possibly damaging Het
Rad54l2 C A 9: 106,596,318 (GRCm39) G207* probably null Het
Rhobtb3 G T 13: 76,059,006 (GRCm39) T264K probably benign Het
Rpl27 A G 11: 101,333,232 (GRCm39) probably benign Het
Rxfp3 C T 15: 11,036,863 (GRCm39) V170I possibly damaging Het
Samd4 T A 14: 47,254,140 (GRCm39) S201R probably benign Het
Sell A G 1: 163,893,176 (GRCm39) I131V possibly damaging Het
Semp2l2a T A 8: 13,887,996 (GRCm39) I32L probably benign Het
Sirpb1c A T 3: 15,887,223 (GRCm39) Y205* probably null Het
Smc3 A T 19: 53,630,326 (GRCm39) E1111V possibly damaging Het
Sowaha C A 11: 53,370,182 (GRCm39) V185L probably benign Het
Spata4 A C 8: 55,055,585 (GRCm39) I159L probably benign Het
Spring1 A G 5: 118,393,759 (GRCm39) N46D probably benign Het
Tekt2 A G 4: 126,216,174 (GRCm39) I373T probably benign Het
Tle7 G T 8: 110,836,048 (GRCm39) R119I probably benign Het
Tomm20l T C 12: 71,164,313 (GRCm39) V65A probably benign Het
Trabd2b A G 4: 114,266,547 (GRCm39) D187G probably damaging Het
Trrap A G 5: 144,758,613 (GRCm39) I2147V possibly damaging Het
Tsc22d2 T A 3: 58,324,429 (GRCm39) C440* probably null Het
Ube3b A C 5: 114,544,313 (GRCm39) N570T probably damaging Het
Uevld A G 7: 46,600,724 (GRCm39) I70T probably damaging Het
Usp10 C T 8: 120,663,289 (GRCm39) T37I possibly damaging Het
Vmn2r23 T A 6: 123,689,981 (GRCm39) F286I probably benign Het
Vmn2r62 A G 7: 42,414,640 (GRCm39) V601A probably benign Het
Wdr81 G C 11: 75,336,828 (GRCm39) N401K Het
Ythdc2 G T 18: 44,966,189 (GRCm39) V142F probably benign Het
Zfp346 T C 13: 55,253,263 (GRCm39) F36S possibly damaging Het
Zfp748 C T 13: 67,690,358 (GRCm39) V301M possibly damaging Het
Zim1 T C 7: 6,681,220 (GRCm39) K148E 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
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
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'- TAAGCTCTCCATAAGGCCTCCG -3'
(R):5'- CGCATTCTATTTGTGTAGCTAAGG -3'

Sequencing Primer
(F):5'- ATAAGGCCTCCGCTTCCG -3'
(R):5'- TAGCAGGCCGGCTCTTCTGCACACT -3'
Posted On 2019-05-15