Incidental Mutation 'IGL01134:1110038F14Rik'
ID 278204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1110038F14Rik
Ensembl Gene ENSMUSG00000063236
Gene Name RIKEN cDNA 1110038F14 gene
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL01134
Quality Score
Status
Chromosome 15
Chromosomal Location 76832706-76835179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76834475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 124 (V124I)
Ref Sequence ENSEMBL: ENSMUSP00000154907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071792] [ENSMUST00000229229] [ENSMUST00000230274]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000071792
AA Change: V186I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071698
Gene: ENSMUSG00000063236
AA Change: V186I

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
low complexity region 21 39 N/A INTRINSIC
Pfam:DUF4615 102 221 4e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000229229
AA Change: V123I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000230274
AA Change: V124I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231058
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T G 11: 84,142,105 (GRCm39) H637Q probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Akap6 C A 12: 52,984,000 (GRCm39) A848E probably damaging Het
Cxxc4 A G 3: 133,946,420 (GRCm39) I334V probably null Het
Cyp2b13 T A 7: 25,781,125 (GRCm39) I179N probably damaging Het
Cyp2d40 C A 15: 82,645,102 (GRCm39) A183S unknown Het
Cyp2g1 A G 7: 26,509,256 (GRCm39) N110S probably benign Het
F5 A T 1: 164,019,548 (GRCm39) R674S possibly damaging Het
Fnip2 G T 3: 79,419,810 (GRCm39) Y155* probably null Het
Fut9 G T 4: 25,620,446 (GRCm39) Q123K probably benign Het
Gda A G 19: 21,394,429 (GRCm39) S143P probably damaging Het
Gpr162 T C 6: 124,835,820 (GRCm39) probably null Het
Hsf2bp A G 17: 32,206,378 (GRCm39) L251S probably damaging Het
Hsh2d A T 8: 72,947,375 (GRCm39) D24V probably damaging Het
Htr1f T A 16: 64,746,501 (GRCm39) T264S probably benign Het
Med12l G A 3: 58,949,696 (GRCm39) E151K possibly damaging Het
Mgat3 C A 15: 80,096,377 (GRCm39) N401K probably benign Het
Mmp27 T G 9: 7,573,298 (GRCm39) M130R probably benign Het
Mroh2b T A 15: 4,944,634 (GRCm39) S412T probably benign Het
Mrps9 A G 1: 42,942,557 (GRCm39) I338M probably damaging Het
Mtmr4 C T 11: 87,494,893 (GRCm39) T395M probably damaging Het
Nlrp9b A G 7: 19,757,112 (GRCm39) I116M probably benign Het
Nqo1 T C 8: 108,115,587 (GRCm39) D230G probably benign Het
Pcnx2 C T 8: 126,589,889 (GRCm39) V795I probably benign Het
Pde8a G A 7: 80,968,826 (GRCm39) R449Q possibly damaging Het
Scn9a A G 2: 66,335,312 (GRCm39) Y1226H probably damaging Het
Sema3e A G 5: 14,302,784 (GRCm39) R770G probably damaging Het
Smr2 T C 5: 88,256,378 (GRCm39) S19P probably damaging Het
Trank1 T C 9: 111,220,849 (GRCm39) S2529P probably benign Het
Uspl1 T A 5: 149,141,103 (GRCm39) F367L probably damaging Het
Vps41 A G 13: 19,050,320 (GRCm39) S838G probably benign Het
Ythdf2 A T 4: 131,932,789 (GRCm39) F124I probably damaging Het
Other mutations in 1110038F14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:1110038F14Rik APN 15 76,834,475 (GRCm39) missense probably damaging 1.00
IGL01063:1110038F14Rik APN 15 76,834,475 (GRCm39) missense probably damaging 1.00
IGL01065:1110038F14Rik APN 15 76,834,475 (GRCm39) missense probably damaging 1.00
IGL01066:1110038F14Rik APN 15 76,834,475 (GRCm39) missense probably damaging 1.00
IGL01067:1110038F14Rik APN 15 76,834,475 (GRCm39) missense probably damaging 1.00
IGL01069:1110038F14Rik APN 15 76,834,475 (GRCm39) missense probably damaging 1.00
IGL01070:1110038F14Rik APN 15 76,834,475 (GRCm39) missense probably damaging 1.00
IGL01128:1110038F14Rik APN 15 76,834,475 (GRCm39) missense probably damaging 1.00
IGL01131:1110038F14Rik APN 15 76,834,475 (GRCm39) missense probably damaging 1.00
IGL01132:1110038F14Rik APN 15 76,834,475 (GRCm39) missense probably damaging 1.00
IGL01133:1110038F14Rik APN 15 76,834,475 (GRCm39) missense probably damaging 1.00
IGL01135:1110038F14Rik APN 15 76,834,475 (GRCm39) missense probably damaging 1.00
IGL01154:1110038F14Rik APN 15 76,834,475 (GRCm39) missense probably damaging 1.00
IGL01155:1110038F14Rik APN 15 76,834,475 (GRCm39) missense probably damaging 1.00
IGL02472:1110038F14Rik APN 15 76,834,578 (GRCm39) missense probably damaging 0.98
ANU05:1110038F14Rik UTSW 15 76,834,475 (GRCm39) missense probably damaging 1.00
R1845:1110038F14Rik UTSW 15 76,833,863 (GRCm39) small insertion probably benign
R4023:1110038F14Rik UTSW 15 76,833,863 (GRCm39) small insertion probably benign
Posted On 2015-04-16