Incidental Mutation 'R4532:Gm12185'
ID 333159
Institutional Source Beutler Lab
Gene Symbol Gm12185
Ensembl Gene ENSMUSG00000048852
Gene Name predicted gene 12185
Synonyms
MMRRC Submission 041772-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4532 (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: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T A 5: 4,093,948 (GRCm39) F2157I probably damaging Het
Aoc1l1 A G 6: 48,955,101 (GRCm39) E647G possibly damaging Het
Ap3b1 A G 13: 94,702,243 (GRCm39) K1099E unknown Het
Arhgap42 T C 9: 9,011,433 (GRCm39) D451G probably damaging Het
Cd19 C T 7: 126,011,281 (GRCm39) C301Y probably damaging Het
Cdh23 T C 10: 60,370,202 (GRCm39) T198A probably benign Het
Cdt1 T C 8: 123,298,495 (GRCm39) S407P probably benign Het
Cyp26c1 A G 19: 37,674,227 (GRCm39) T34A probably damaging Het
Dbh C A 2: 27,067,343 (GRCm39) H409Q possibly damaging Het
Eif5 T A 12: 111,506,318 (GRCm39) C52* probably null Het
Fhod3 A G 18: 25,243,278 (GRCm39) Y1212C probably damaging Het
Ggh T A 4: 20,046,225 (GRCm39) F44L probably benign Het
Gm21095 A G Y: 84,131,953 (GRCm39) N149S probably damaging Het
Gys2 T A 6: 142,400,867 (GRCm39) H311L probably damaging Het
Hcn4 C T 9: 58,765,081 (GRCm39) R558C unknown Het
Heatr6 T C 11: 83,660,498 (GRCm39) L546P probably damaging Het
Lin54 G A 5: 100,594,419 (GRCm39) T582I possibly damaging Het
Lpin1 C T 12: 16,603,963 (GRCm39) G623S probably benign Het
Lrfn2 A G 17: 49,377,564 (GRCm39) D215G probably damaging Het
Lrrc3c C A 11: 98,489,859 (GRCm39) S72* probably null Het
Me3 G A 7: 89,282,108 (GRCm39) probably benign Het
Msln A G 17: 25,969,698 (GRCm39) I344T probably damaging Het
Oma1 G A 4: 103,176,571 (GRCm39) V112I probably benign Het
Or5al6 A T 2: 85,976,274 (GRCm39) L268Q possibly damaging Het
Or5p4 T C 7: 107,680,756 (GRCm39) Y252H probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pdgfra A G 5: 75,341,744 (GRCm39) N659S probably damaging Het
Rmnd5a A T 6: 71,376,109 (GRCm39) probably null Het
Slc12a8 C A 16: 33,371,403 (GRCm39) R180S probably damaging Het
Slc6a15 G A 10: 103,245,648 (GRCm39) V544M possibly damaging Het
Slco5a1 T A 1: 12,949,447 (GRCm39) T648S probably damaging Het
Snx13 T C 12: 35,194,219 (GRCm39) F921L probably damaging Het
Stard6 A C 18: 70,616,605 (GRCm39) D88A probably damaging Het
Svep1 G T 4: 58,068,886 (GRCm39) H2967N possibly damaging Het
Tcaf2 A C 6: 42,603,371 (GRCm39) Y730D probably damaging Het
Tes G A 6: 17,097,407 (GRCm39) V172M possibly damaging Het
Ttc3 T A 16: 94,267,736 (GRCm39) probably benign Het
Vmn1r23 A G 6: 57,902,914 (GRCm39) I288T probably benign Het
Vmn1r38 G T 6: 66,754,016 (GRCm39) H33Q probably benign Het
Vmn2r75 G T 7: 85,797,349 (GRCm39) C821* probably null Het
Zfp282 C T 6: 47,867,567 (GRCm39) P248S probably benign Het
Zfp655 T A 5: 145,181,507 (GRCm39) I455N probably benign 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 48,798,747 (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
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'- GATATCTTGATCTATCTTGGTTCGGAC -3'
(R):5'- CTGTGATTAGTCATGCTCTGCG -3'

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