Incidental Mutation 'IGL01135:1110038F14Rik'
ID 278207
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 # IGL01135
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
5730507C01Rik G A 12: 18,583,375 (GRCm39) R145H possibly damaging Het
Acox3 T A 5: 35,746,096 (GRCm39) V93E probably benign Het
Ankar T C 1: 72,704,378 (GRCm39) N848S probably benign Het
Blzf1 A G 1: 164,131,499 (GRCm39) probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ceacam23 A T 7: 17,636,396 (GRCm39) noncoding transcript Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Ckmt1 A C 2: 121,191,631 (GRCm39) D267A probably damaging Het
Dtl G T 1: 191,280,442 (GRCm39) T364K probably damaging Het
Fat1 T A 8: 45,477,877 (GRCm39) F2308I probably damaging Het
Fbxo41 A T 6: 85,454,890 (GRCm39) S673T probably benign Het
Flnb G A 14: 7,909,736 (GRCm38) V1397I probably benign Het
Gdi2 A G 13: 3,598,855 (GRCm39) probably benign Het
Grik3 C T 4: 125,526,208 (GRCm39) T147I probably benign Het
Htr1a T C 13: 105,581,792 (GRCm39) V344A possibly damaging Het
Isg20l2 A T 3: 87,839,068 (GRCm39) D93V probably damaging Het
Kcnt2 T C 1: 140,282,293 (GRCm39) probably null Het
Mfsd4b3-ps A G 10: 39,824,068 (GRCm39) M64T probably benign Het
Nox3 T A 17: 3,746,527 (GRCm39) probably benign Het
Or2ag12 C T 7: 106,277,400 (GRCm39) A98T probably benign Het
Pikfyve T A 1: 65,290,794 (GRCm39) N1204K probably damaging Het
Pou4f3 C T 18: 42,529,031 (GRCm39) Q325* probably null Het
Rap1a T A 3: 105,639,351 (GRCm39) T103S probably benign Het
Rfc4 G A 16: 22,934,526 (GRCm39) R165C probably damaging Het
Smtnl1 A G 2: 84,649,231 (GRCm39) S8P probably benign Het
Syt17 C T 7: 117,981,270 (GRCm39) G351S possibly damaging Het
Tcf20 T A 15: 82,738,101 (GRCm39) M1117L probably benign Het
Tent5a A G 9: 85,208,652 (GRCm39) V57A probably damaging Het
Tgfbr3 A T 5: 107,362,894 (GRCm39) H39Q probably damaging Het
Trdmt1 T C 2: 13,526,071 (GRCm39) probably null Het
Twf2 A G 9: 106,090,027 (GRCm39) I127V probably benign Het
Unc13c A G 9: 73,392,175 (GRCm39) V2059A 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
IGL01134:1110038F14Rik 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