Incidental Mutation 'R1223:Gm12185'
ID 152809
Institutional Source Beutler Lab
Gene Symbol Gm12185
Ensembl Gene ENSMUSG00000048852
Gene Name predicted gene 12185
Synonyms
MMRRC Submission 039292-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R1223 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 48795483-48818009 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48798103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 797 (I797F)
Ref Sequence ENSEMBL: ENSMUSP00000092049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059930] [ENSMUST00000094476]
AlphaFold Q5NCB2
Predicted Effect probably damaging
Transcript: ENSMUST00000059930
AA Change: I797F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
AA Change: I797F

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 damaging
Transcript: ENSMUST00000094476
AA Change: I797F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092049
Gene: ENSMUSG00000048852
AA Change: I797F

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: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 A T 16: 4,116,612 (GRCm39) V873E probably damaging Het
Arl10 A G 13: 54,726,744 (GRCm39) D174G probably damaging Het
Cd180 A T 13: 102,842,730 (GRCm39) Y592F possibly damaging Het
Ces3a A T 8: 105,784,661 (GRCm39) T548S probably benign Het
Chd2 T C 7: 73,134,265 (GRCm39) E694G probably damaging Het
Commd3 T C 2: 18,679,779 (GRCm39) Y163H probably benign Het
Cyp8b1 A G 9: 121,744,070 (GRCm39) S421P possibly damaging Het
Cysltr2 A T 14: 73,267,539 (GRCm39) V57E probably damaging Het
Ddx47 G A 6: 134,989,277 (GRCm39) V34I possibly damaging Het
Dgkz T C 2: 91,769,660 (GRCm39) probably benign Het
Dsg2 G T 18: 20,706,550 (GRCm39) C22F probably benign Het
Gbp10 A C 5: 105,366,867 (GRCm39) V455G probably damaging Het
Katnip T A 7: 125,359,595 (GRCm39) V62E possibly damaging Het
Lrrk2 A G 15: 91,557,838 (GRCm39) E58G probably benign Het
Mrgprb1 A G 7: 48,097,435 (GRCm39) V159A possibly damaging Het
Mybphl A G 3: 108,282,512 (GRCm39) T182A possibly damaging Het
Or52e7 A T 7: 104,684,773 (GRCm39) I123F probably benign Het
Or9m1 G A 2: 87,733,163 (GRCm39) P286S probably damaging Het
Osr1 C T 12: 9,629,699 (GRCm39) L191F probably damaging Het
Pip4k2b G A 11: 97,609,720 (GRCm39) R406C probably damaging Het
Plce1 C T 19: 38,690,457 (GRCm39) L714F probably damaging Het
Plce1 T C 19: 38,755,670 (GRCm39) F1886S probably damaging Het
Ppp1cc A G 5: 122,306,277 (GRCm39) E32G probably damaging Het
Rnh1 A G 7: 140,743,120 (GRCm39) L260P probably damaging Het
Serpinb3a T A 1: 106,975,282 (GRCm39) N175I probably damaging Het
Sptbn5 T A 2: 119,902,525 (GRCm39) I68F probably damaging Het
Tas1r2 A T 4: 139,387,515 (GRCm39) T325S probably damaging Het
Tcirg1 T C 19: 3,948,733 (GRCm39) N484S probably benign Het
Tenm3 A T 8: 48,693,431 (GRCm39) M1833K possibly damaging Het
Thoc5 A G 11: 4,871,922 (GRCm39) E449G probably benign Het
Usp34 A G 11: 23,396,464 (GRCm39) probably null 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
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 48,798,921 (GRCm39) missense possibly damaging 0.66
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'- GTCCATGTCTGAAGCCAGTCCAAAG -3'
(R):5'- TGAGACTACCATTGCCCGGAAGAG -3'

Sequencing Primer
(F):5'- GCCAGTCCAAAGGTTAGTACCTC -3'
(R):5'- GTTGGAAGAGACCTTGACTCTCTAC -3'
Posted On 2014-01-29