Incidental Mutation 'R7033:Gm12185'
ID 546466
Institutional Source Beutler Lab
Gene Symbol Gm12185
Ensembl Gene ENSMUSG00000048852
Gene Name predicted gene 12185
Synonyms
MMRRC Submission 045134-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R7033 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 48795483-48818009 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48806826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 122 (S122G)
Ref Sequence ENSEMBL: ENSMUSP00000054351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059930] [ENSMUST00000094476]
AlphaFold Q5NCB2
Predicted Effect probably benign
Transcript: ENSMUST00000059930
AA Change: S122G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
AA Change: S122G

DomainStartEndE-ValueType
Pfam:IIGP 27 389 8.4e-123 PFAM
Pfam:MMR_HSR1 63 190 2.2e-9 PFAM
low complexity region 421 432 N/A INTRINSIC
Pfam:IIGP 438 811 3.4e-152 PFAM
Pfam:MMR_HSR1 474 632 1.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094476
AA Change: S122G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092049
Gene: ENSMUSG00000048852
AA Change: S122G

DomainStartEndE-ValueType
Pfam:IIGP 27 389 1e-122 PFAM
Pfam:DLIC 43 98 3.2e-5 PFAM
Pfam:MMR_HSR1 63 187 6e-9 PFAM
low complexity region 421 432 N/A INTRINSIC
Pfam:IIGP 438 811 8.9e-153 PFAM
Pfam:MMR_HSR1 474 615 2.6e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 96% (70/73)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik A G 14: 41,819,374 (GRCm39) Y105C probably damaging Het
Acr T C 15: 89,453,703 (GRCm39) S81P probably benign Het
Akr1c14 T C 13: 4,129,178 (GRCm39) probably null Het
Ank2 C A 3: 126,738,499 (GRCm39) E2375* probably null Het
Avpi1 A G 19: 42,113,416 (GRCm39) W14R probably damaging Het
Brd4 A G 17: 32,417,989 (GRCm39) V55A probably benign Het
Casp8ap2 A G 4: 32,639,392 (GRCm39) N149D probably damaging Het
Ccl25 A T 8: 4,399,641 (GRCm39) probably benign Het
Celf5 A G 10: 81,298,548 (GRCm39) L299P probably damaging Het
Cfap418 A G 4: 10,898,014 (GRCm39) T199A probably benign Het
Cfap57 T G 4: 118,470,323 (GRCm39) T186P possibly damaging Het
Chrm4 A G 2: 91,758,692 (GRCm39) M367V probably benign Het
Col1a2 A T 6: 4,516,904 (GRCm39) probably benign Het
Crybg3 G A 16: 59,374,528 (GRCm39) P2242L probably damaging Het
Cspg4 T C 9: 56,795,358 (GRCm39) V1031A probably damaging Het
Dbnl C A 11: 5,748,102 (GRCm39) P313T probably benign Het
Dnah1 A G 14: 30,986,882 (GRCm39) F3637L probably damaging Het
Dnah7a A T 1: 53,518,820 (GRCm39) I2979N probably damaging Het
Dusp10 T C 1: 183,769,802 (GRCm39) V256A possibly damaging Het
Dync2i1 T C 12: 116,175,511 (GRCm39) M889V probably benign Het
Erlin2 T C 8: 27,521,792 (GRCm39) V164A probably benign Het
Fam110a T C 2: 151,812,131 (GRCm39) D213G probably damaging Het
Fkbp1a T C 2: 151,399,420 (GRCm39) probably null Het
Foxg1 G A 12: 49,431,503 (GRCm39) probably benign Het
Gm2042 A T 12: 87,927,051 (GRCm39) D456V probably damaging Het
Grin2b A G 6: 135,900,036 (GRCm39) Y282H probably damaging Het
Gys2 T C 6: 142,418,448 (GRCm39) D27G probably benign Het
H2-DMa T A 17: 34,355,971 (GRCm39) probably null Het
Hectd4 T A 5: 121,502,631 (GRCm39) I4245N possibly damaging Het
Incenp A G 19: 9,870,736 (GRCm39) Y298H unknown Het
Ints2 C T 11: 86,123,911 (GRCm39) G626R probably damaging Het
Kifc1 A T 17: 34,102,671 (GRCm39) V314E probably damaging Het
Lurap1l C T 4: 80,829,604 (GRCm39) P5S probably benign Het
Mtmr11 A G 3: 96,077,262 (GRCm39) Y540C probably damaging Het
Muc4 C A 16: 32,576,698 (GRCm39) probably benign Het
Myh13 A G 11: 67,260,142 (GRCm39) E1860G possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nbeal1 G A 1: 60,350,106 (GRCm39) G2385D probably damaging Het
Ncaph2 G A 15: 89,255,559 (GRCm39) A578T probably benign Het
Ncr1 T C 7: 4,341,144 (GRCm39) V8A possibly damaging Het
Nutm1 T C 2: 112,086,513 (GRCm39) T73A probably damaging Het
Olfm1 G A 2: 28,119,348 (GRCm39) D313N probably damaging Het
Or11h4 A G 14: 50,974,164 (GRCm39) F152L possibly damaging Het
Or13f5 A G 4: 52,826,089 (GRCm39) M231V probably benign Het
Or4a66 T A 2: 88,531,164 (GRCm39) N170Y probably damaging Het
Otog T A 7: 45,916,822 (GRCm39) probably null Het
Peak1 G T 9: 56,166,991 (GRCm39) D312E probably damaging Het
Plekhg1 T C 10: 3,890,251 (GRCm39) I331T probably damaging Het
Polr1b T C 2: 128,957,562 (GRCm39) V539A possibly damaging Het
Polr2a A T 11: 69,638,039 (GRCm39) H143Q possibly damaging Het
Ppargc1b G T 18: 61,440,785 (GRCm39) A711D probably damaging Het
Prnd T A 2: 131,795,362 (GRCm39) C161S possibly damaging Het
Prrt4 A G 6: 29,171,147 (GRCm39) L435P possibly damaging Het
Psen2 C T 1: 180,055,085 (GRCm39) probably null Het
Psg23 T C 7: 18,348,669 (GRCm39) E46G possibly damaging Het
Rasgef1b C T 5: 99,380,195 (GRCm39) R350H probably damaging Het
Rfxank G C 8: 70,590,820 (GRCm39) P16A probably benign Het
Sema6a A G 18: 47,381,637 (GRCm39) I944T probably damaging Het
Serpinc1 A G 1: 160,825,091 (GRCm39) T313A probably benign Het
Slc27a4 T C 2: 29,694,283 (GRCm39) S36P possibly damaging Het
Slc36a1 C A 11: 55,114,563 (GRCm39) R214S probably benign Het
Sorl1 C T 9: 41,942,279 (GRCm39) S982N possibly damaging Het
Speer1k G T 5: 11,000,518 (GRCm39) probably null Het
Syt1 A C 10: 108,526,797 (GRCm39) D37E probably benign Het
Tcl1b5 A T 12: 105,142,750 (GRCm39) D26V probably damaging Het
Tenm4 A T 7: 96,544,430 (GRCm39) K2149* probably null Het
Ubc T A 5: 125,465,238 (GRCm39) I30F probably damaging Het
Ugt1a7c A T 1: 88,023,250 (GRCm39) E136D possibly damaging Het
Utp20 A G 10: 88,590,337 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,289 (GRCm39) V248I probably damaging Het
Vmn2r105 T C 17: 20,428,874 (GRCm39) H734R probably damaging Het
Xrcc2 T G 5: 25,897,707 (GRCm39) I81L possibly damaging Het
Zfat A C 15: 68,052,864 (GRCm39) I310S probably damaging Het
Zfp119a A G 17: 56,173,009 (GRCm39) V278A probably benign Het
Zfp53 A G 17: 21,720,508 (GRCm39) K33E probably benign Het
Zfp866 G T 8: 70,218,491 (GRCm39) H376Q probably damaging Het
Other mutations in Gm12185
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Gm12185 APN 11 48,798,049 (GRCm39) missense probably benign 0.01
IGL00495:Gm12185 APN 11 48,798,688 (GRCm39) missense probably damaging 0.99
IGL01763:Gm12185 APN 11 48,806,671 (GRCm39) missense probably benign 0.07
IGL01919:Gm12185 APN 11 48,798,886 (GRCm39) missense possibly damaging 0.90
IGL03388:Gm12185 APN 11 48,799,113 (GRCm39) missense probably benign 0.01
IGL03404:Gm12185 APN 11 48,798,864 (GRCm39) missense probably damaging 1.00
PIT4458001:Gm12185 UTSW 11 48,798,738 (GRCm39) missense probably damaging 1.00
R0347:Gm12185 UTSW 11 48,806,009 (GRCm39) missense probably benign 0.29
R0488:Gm12185 UTSW 11 48,798,666 (GRCm39) missense probably damaging 1.00
R1168:Gm12185 UTSW 11 48,806,182 (GRCm39) missense possibly damaging 0.60
R1223:Gm12185 UTSW 11 48,798,103 (GRCm39) missense probably damaging 0.98
R1417:Gm12185 UTSW 11 48,798,669 (GRCm39) missense probably damaging 1.00
R1468:Gm12185 UTSW 11 48,806,501 (GRCm39) missense possibly damaging 0.60
R1468:Gm12185 UTSW 11 48,806,501 (GRCm39) missense possibly damaging 0.60
R1519:Gm12185 UTSW 11 48,798,594 (GRCm39) missense probably damaging 1.00
R1558:Gm12185 UTSW 11 48,806,262 (GRCm39) missense probably damaging 0.99
R1630:Gm12185 UTSW 11 48,798,717 (GRCm39) missense probably benign 0.31
R1758:Gm12185 UTSW 11 48,798,859 (GRCm39) missense possibly damaging 0.82
R1793:Gm12185 UTSW 11 48,806,583 (GRCm39) nonsense probably null
R1908:Gm12185 UTSW 11 48,806,231 (GRCm39) missense probably benign 0.00
R1983:Gm12185 UTSW 11 48,806,183 (GRCm39) missense probably benign 0.01
R3917:Gm12185 UTSW 11 48,806,760 (GRCm39) missense probably benign 0.01
R3969:Gm12185 UTSW 11 48,798,172 (GRCm39) missense probably benign 0.03
R3970:Gm12185 UTSW 11 48,798,172 (GRCm39) missense probably benign 0.03
R4510:Gm12185 UTSW 11 48,799,305 (GRCm39) missense possibly damaging 0.84
R4511:Gm12185 UTSW 11 48,799,305 (GRCm39) missense possibly damaging 0.84
R4529:Gm12185 UTSW 11 48,798,921 (GRCm39) missense possibly damaging 0.66
R4529:Gm12185 UTSW 11 48,798,747 (GRCm39) missense probably damaging 1.00
R4532:Gm12185 UTSW 11 48,798,921 (GRCm39) missense possibly damaging 0.66
R4532:Gm12185 UTSW 11 48,798,747 (GRCm39) missense probably damaging 1.00
R4533:Gm12185 UTSW 11 48,798,747 (GRCm39) missense probably damaging 1.00
R4533:Gm12185 UTSW 11 48,798,921 (GRCm39) missense possibly damaging 0.66
R4678:Gm12185 UTSW 11 48,806,367 (GRCm39) missense probably benign 0.05
R5094:Gm12185 UTSW 11 48,798,375 (GRCm39) missense probably benign 0.35
R5238:Gm12185 UTSW 11 48,799,044 (GRCm39) missense possibly damaging 0.92
R5306:Gm12185 UTSW 11 48,806,382 (GRCm39) missense probably benign 0.03
R5371:Gm12185 UTSW 11 48,806,566 (GRCm39) missense probably benign 0.01
R5995:Gm12185 UTSW 11 48,806,540 (GRCm39) missense probably benign 0.40
R6113:Gm12185 UTSW 11 48,806,167 (GRCm39) missense possibly damaging 0.47
R6147:Gm12185 UTSW 11 48,806,717 (GRCm39) missense probably benign
R6160:Gm12185 UTSW 11 48,799,255 (GRCm39) nonsense probably null
R6247:Gm12185 UTSW 11 48,806,735 (GRCm39) missense probably damaging 0.98
R6264:Gm12185 UTSW 11 48,807,002 (GRCm39) missense probably benign 0.01
R6748:Gm12185 UTSW 11 48,807,123 (GRCm39) missense possibly damaging 0.53
R6765:Gm12185 UTSW 11 48,806,531 (GRCm39) missense probably benign 0.12
R6970:Gm12185 UTSW 11 48,798,739 (GRCm39) nonsense probably null
R7028:Gm12185 UTSW 11 48,799,071 (GRCm39) missense possibly damaging 0.80
R7512:Gm12185 UTSW 11 48,806,717 (GRCm39) missense probably benign
R7609:Gm12185 UTSW 11 48,806,850 (GRCm39) missense possibly damaging 0.82
R7673:Gm12185 UTSW 11 48,798,455 (GRCm39) missense probably benign 0.45
R8848:Gm12185 UTSW 11 48,806,280 (GRCm39) missense possibly damaging 0.60
R9578:Gm12185 UTSW 11 48,806,408 (GRCm39) missense probably benign
R9580:Gm12185 UTSW 11 48,799,192 (GRCm39) missense possibly damaging 0.48
R9712:Gm12185 UTSW 11 48,798,216 (GRCm39) missense probably benign 0.03
R9760:Gm12185 UTSW 11 48,806,168 (GRCm39) missense probably benign 0.01
Z1176:Gm12185 UTSW 11 48,798,913 (GRCm39) missense probably benign 0.21
Z1177:Gm12185 UTSW 11 48,807,129 (GRCm39) missense probably benign
Predicted Primers
Posted On 2019-05-13