Incidental Mutation 'IGL01070:1110038F14Rik'
ID 278149
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 # IGL01070
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T C 16: 85,660,021 (GRCm39) H757R probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Akap3 A T 6: 126,842,842 (GRCm39) E487V possibly damaging Het
Bicd2 T C 13: 49,531,792 (GRCm39) S271P probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cma1 A G 14: 56,180,154 (GRCm39) S71P probably benign Het
Cspp1 T C 1: 10,158,370 (GRCm39) Y494H probably damaging Het
Cyp39a1 A G 17: 43,993,913 (GRCm39) K191R probably benign Het
Efr3a G A 15: 65,724,927 (GRCm39) V507I probably benign Het
Fam178b C T 1: 36,603,484 (GRCm39) R489Q possibly damaging Het
Kcnj4 A G 15: 79,368,780 (GRCm39) L400P probably benign Het
Kif27 A G 13: 58,491,907 (GRCm39) Y411H probably damaging Het
Mstn A T 1: 53,101,156 (GRCm39) I78L possibly damaging Het
Nrap T C 19: 56,317,516 (GRCm39) D1377G probably damaging Het
Pramel5 T G 4: 143,997,842 (GRCm39) Y467S probably damaging Het
Prkg1 G A 19: 30,546,743 (GRCm39) probably benign Het
Rbfox1 A C 16: 7,124,307 (GRCm39) S219R possibly damaging Het
Rfng T C 11: 120,674,778 (GRCm39) N71D probably damaging Het
Rp1 T C 1: 4,415,461 (GRCm39) I1884V probably damaging Het
Rptn T A 3: 93,305,483 (GRCm39) Y939N possibly damaging Het
Sart1 A G 19: 5,433,979 (GRCm39) V322A probably benign Het
Shank3 T C 15: 89,433,619 (GRCm39) S1455P probably damaging Het
Smc5 T A 19: 23,208,965 (GRCm39) R703W possibly damaging Het
Sptan1 G A 2: 29,904,185 (GRCm39) probably null Het
Tecta T C 9: 42,306,299 (GRCm39) D43G probably damaging Het
Tmem67 A T 4: 12,054,750 (GRCm39) M685K probably benign Het
Trac A G 14: 54,458,223 (GRCm39) T82A probably benign Het
Trank1 A G 9: 111,195,861 (GRCm39) N1295S probably damaging Het
Ttc36 T C 9: 44,712,887 (GRCm39) probably null Het
Utp18 A T 11: 93,760,674 (GRCm39) S384T possibly damaging Het
Vmn1r64 C A 7: 5,886,941 (GRCm39) A201S probably benign Het
Vmn2r26 A T 6: 124,038,566 (GRCm39) I714F probably benign Het
Vps54 T A 11: 21,262,268 (GRCm39) V626D probably damaging Het
Wapl T C 14: 34,467,579 (GRCm39) probably benign Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null 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
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
IGL01134:1110038F14Rik 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