Incidental Mutation 'R4533:Gm12185'
ID 333211
Institutional Source Beutler Lab
Gene Symbol Gm12185
Ensembl Gene ENSMUSG00000048852
Gene Name predicted gene 12185
Synonyms
MMRRC Submission 041773-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4533 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 48795483-48818009 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48798921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 524 (N524S)
Ref Sequence ENSEMBL: ENSMUSP00000092049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059930] [ENSMUST00000094476]
AlphaFold Q5NCB2
Predicted Effect possibly damaging
Transcript: ENSMUST00000059930
AA Change: N524S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
AA Change: N524S

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 possibly damaging
Transcript: ENSMUST00000094476
AA Change: N524S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092049
Gene: ENSMUSG00000048852
AA Change: N524S

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
Meta Mutation Damage Score 0.4090 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,062,761 (GRCm39) Y405C probably damaging Het
Ago3 A T 4: 126,239,356 (GRCm39) S832T probably damaging Het
Akap9 T A 5: 4,093,948 (GRCm39) F2157I probably damaging Het
Anapc5 T C 5: 122,929,798 (GRCm39) E561G possibly damaging Het
Art5 T C 7: 101,747,545 (GRCm39) H78R probably benign Het
Blvra T A 2: 126,932,304 (GRCm39) probably null Het
Ccdc171 A G 4: 83,575,579 (GRCm39) T488A possibly damaging Het
Crtc3 A T 7: 80,239,543 (GRCm39) M603K probably damaging Het
Csmd1 T C 8: 15,981,037 (GRCm39) probably null Het
Dbh C A 2: 27,067,343 (GRCm39) H409Q possibly damaging Het
Gm7356 A C 17: 14,221,672 (GRCm39) I119R probably damaging Het
Heatr1 T A 13: 12,449,392 (GRCm39) D1963E probably benign Het
Ighv1-37 A T 12: 114,860,147 (GRCm39) V21D probably damaging Het
Itga3 T G 11: 94,948,119 (GRCm39) Q602P probably benign Het
Kcmf1 G A 6: 72,826,574 (GRCm39) R152C probably damaging Het
Lin54 T C 5: 100,633,262 (GRCm39) I141V possibly damaging Het
Mast1 T A 8: 85,647,990 (GRCm39) H497L probably damaging Het
Mrpl44 T C 1: 79,753,971 (GRCm39) F41S possibly damaging Het
Myo18b T C 5: 112,840,891 (GRCm39) R2301G probably damaging Het
Nek1 A T 8: 61,460,247 (GRCm39) M58L possibly damaging Het
Or4k15c T C 14: 50,321,156 (GRCm39) probably null Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
P3h3 A G 6: 124,831,371 (GRCm39) V338A possibly damaging Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pcdha7 T C 18: 37,108,460 (GRCm39) V495A possibly damaging Het
Plcb3 T C 19: 6,933,640 (GRCm39) E895G probably benign Het
Plekha5 A G 6: 140,516,057 (GRCm39) E770G probably damaging Het
Ptchd3 C T 11: 121,727,257 (GRCm39) S377F probably damaging Het
Ptprj C T 2: 90,270,299 (GRCm39) D1266N probably damaging Het
Raly A T 2: 154,707,853 (GRCm39) E291V probably damaging Het
Rnf217 C A 10: 31,484,759 (GRCm39) C141F possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc12a3 A G 8: 95,083,714 (GRCm39) M914V probably null Het
Tbc1d9 A G 8: 83,997,547 (GRCm39) T1035A probably damaging Het
Tex14 C T 11: 87,427,655 (GRCm39) R36* probably null Het
Tiparp A G 3: 65,453,768 (GRCm39) D172G probably benign Het
Ttc3 T A 16: 94,267,736 (GRCm39) probably benign Het
Uap1 A T 1: 169,970,994 (GRCm39) I466N probably damaging Het
Ubr1 T C 2: 120,772,963 (GRCm39) T426A possibly damaging Het
Vmn1r77 T A 7: 11,775,756 (GRCm39) H177Q probably benign Het
Vmn2r72 T A 7: 85,401,134 (GRCm39) H95L probably benign Het
Vwc2l G A 1: 70,921,298 (GRCm39) C151Y probably damaging Het
Wdr12 T C 1: 60,117,354 (GRCm39) Y414C probably benign Het
Zfp609 A C 9: 65,610,890 (GRCm39) V691G probably benign Het
Zmiz1 T C 14: 25,646,084 (GRCm39) Y254H 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
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
R7033:Gm12185 UTSW 11 48,806,826 (GRCm39) missense probably benign
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 PCR Primer
(F):5'- TATCTTGATCTATCTTGGTTCGGAC -3'
(R):5'- GACTGTGATTAGTCATGCTCTGC -3'

Sequencing Primer
(F):5'- TCTTGGTTCGGACAAAGTAGAAC -3'
(R):5'- TGCTCTGCGAAATATTGACAAAGCC -3'
Posted On 2015-08-18