Incidental Mutation 'IGL01131:1110038F14Rik'
ID 278196
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 # IGL01131
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 G T 17: 43,733,400 (GRCm39) D75Y possibly damaging Het
Cfap20 T C 8: 96,151,287 (GRCm39) D18G probably damaging Het
Cpne3 T C 4: 19,543,318 (GRCm39) D160G probably damaging Het
Ercc3 A G 18: 32,402,942 (GRCm39) *784W probably null Het
Fam53b T C 7: 132,317,511 (GRCm39) E377G probably damaging Het
Far2 T C 6: 148,052,096 (GRCm39) V125A possibly damaging Het
Fasn T C 11: 120,705,445 (GRCm39) E1192G probably benign Het
Irf5 A G 6: 29,536,102 (GRCm39) E372G probably damaging Het
Kif2c C T 4: 117,029,562 (GRCm39) V140M probably damaging Het
Klre1 T C 6: 129,561,133 (GRCm39) F165L possibly damaging Het
Kmt2a C T 9: 44,732,467 (GRCm39) probably benign Het
Lrp2 C T 2: 69,329,583 (GRCm39) C1728Y probably damaging Het
Muc4 C A 16: 32,753,901 (GRCm38) T1259N possibly damaging Het
Nlrp9b A G 7: 19,757,462 (GRCm39) D233G probably damaging Het
Nuf2 T C 1: 169,349,933 (GRCm39) probably benign Het
Nynrin A G 14: 56,110,142 (GRCm39) K1750E probably damaging Het
Or5b109 A G 19: 13,212,103 (GRCm39) D163G probably benign Het
Parp4 C A 14: 56,823,217 (GRCm39) probably benign Het
Rbms1 T C 2: 60,589,180 (GRCm39) M287V probably benign Het
Rhox3c G A X: 36,651,982 (GRCm39) R71K probably damaging Het
Rufy1 A G 11: 50,282,850 (GRCm39) L638P probably damaging Het
Slc15a3 G A 19: 10,834,986 (GRCm39) probably benign Het
Slc26a9 T C 1: 131,683,280 (GRCm39) probably null Het
Slc6a13 A G 6: 121,298,600 (GRCm39) Y150C probably damaging Het
Slitrk6 A T 14: 110,989,008 (GRCm39) L233Q probably damaging Het
Ugt3a1 T A 15: 9,365,248 (GRCm39) I287N probably damaging Het
Unc13c T C 9: 73,471,335 (GRCm39) N1778S probably benign Het
Vmn1r212 T C 13: 23,067,329 (GRCm39) N335D unknown Het
Wdfy1 C T 1: 79,691,589 (GRCm39) V273I probably benign 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
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