Incidental Mutation 'IGL01132:1110038F14Rik'
ID 278199
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 # IGL01132
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 T C 15: 98,495,732 (GRCm39) N619S probably benign Het
Adgrf5 G T 17: 43,733,400 (GRCm39) D75Y possibly damaging Het
Aldh1a7 T C 19: 20,704,404 (GRCm39) H30R possibly damaging Het
Birc6 T C 17: 74,910,055 (GRCm39) S1483P probably damaging Het
Cd209e T C 8: 3,901,274 (GRCm39) T127A probably benign Het
Clmn T A 12: 104,740,810 (GRCm39) probably null Het
Dcc A T 18: 71,815,245 (GRCm39) Y376* probably null Het
Dennd2b A G 7: 109,169,212 (GRCm39) probably null Het
Dscaml1 C T 9: 45,663,626 (GRCm39) R1950* probably null Het
Eml2 A T 7: 18,934,464 (GRCm39) S388C probably damaging Het
Ext2 C T 2: 93,621,418 (GRCm39) M370I probably benign Het
Foxo1 C T 3: 52,252,580 (GRCm39) R248W probably damaging Het
Gan T A 8: 117,923,183 (GRCm39) probably benign Het
Klra1 A T 6: 130,341,237 (GRCm39) C245* probably null Het
Myh10 A T 11: 68,659,094 (GRCm39) M491L possibly damaging Het
Myrf A G 19: 10,200,569 (GRCm39) Y343H probably damaging Het
Oplah C T 15: 76,185,157 (GRCm39) S852N probably benign Het
Or6c75 T C 10: 129,337,515 (GRCm39) V254A probably damaging Het
Or7e168 G A 9: 19,719,950 (GRCm39) S112N probably damaging Het
Or8k37 A T 2: 86,469,510 (GRCm39) C181S probably benign Het
Prag1 T C 8: 36,613,511 (GRCm39) V1021A probably damaging Het
Rassf4 C T 6: 116,636,568 (GRCm39) probably benign Het
Sf3b3 T C 8: 111,569,413 (GRCm39) I102V probably benign Het
Slc27a4 T C 2: 29,694,314 (GRCm39) I46T probably benign Het
Slc5a12 T C 2: 110,428,167 (GRCm39) V74A probably damaging Het
Tas2r134 G T 2: 51,517,671 (GRCm39) C50F probably damaging Het
Tcte1 G T 17: 45,850,788 (GRCm39) A355S possibly 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
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