Incidental Mutation 'IGL01128:1110038F14Rik'
ID 278190
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 # IGL01128
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
Adgrf5 G T 17: 43,733,400 (GRCm39) D75Y possibly damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Ahi1 A G 10: 20,950,332 (GRCm39) T128A probably benign Het
Bves T A 10: 45,229,944 (GRCm39) F249L probably damaging Het
Capns1 T C 7: 29,889,558 (GRCm39) I214V probably benign Het
Cgnl1 G T 9: 71,631,843 (GRCm39) Q503K possibly damaging Het
Ep300 A G 15: 81,514,207 (GRCm39) probably benign Het
Fam117b T A 1: 60,008,177 (GRCm39) F337Y probably damaging Het
Fam178b A T 1: 36,683,435 (GRCm39) V95E probably damaging Het
Gak T A 5: 108,740,236 (GRCm39) M560L probably damaging Het
Gna11 C A 10: 81,366,718 (GRCm39) A331S probably damaging Het
Gtf3c3 A C 1: 54,468,035 (GRCm39) F201V possibly damaging Het
Kat6b G A 14: 21,710,928 (GRCm39) R734H probably benign Het
Lag3 T C 6: 124,886,380 (GRCm39) D191G probably damaging Het
Mttp T A 3: 137,839,758 (GRCm39) probably null Het
Nlgn3 A T X: 100,363,698 (GRCm39) T790S probably benign Het
Or11g27 A G 14: 50,771,406 (GRCm39) D179G probably damaging Het
Or5b123 G A 19: 13,597,110 (GRCm39) E195K probably damaging Het
Pkd2l2 T A 18: 34,550,068 (GRCm39) Y238N probably damaging Het
Plg A T 17: 12,615,586 (GRCm39) probably benign Het
Ptprm A T 17: 67,349,096 (GRCm39) C376S probably damaging Het
Rexo1 T C 10: 80,385,573 (GRCm39) D495G probably benign Het
Rims1 A T 1: 22,573,256 (GRCm39) V315D probably damaging Het
Ros1 G A 10: 52,018,424 (GRCm39) Q745* probably null Het
Satb1 A G 17: 52,112,317 (GRCm39) V99A probably damaging Het
Sema3e C T 5: 14,282,129 (GRCm39) P422S probably damaging Het
Stkld1 G T 2: 26,841,483 (GRCm39) W476L probably benign Het
Syna T C 5: 134,588,334 (GRCm39) D205G probably damaging Het
Tas2r134 G T 2: 51,517,671 (GRCm39) C50F probably damaging Het
Togaram1 A G 12: 65,027,650 (GRCm39) T880A probably benign Het
Uckl1 T C 2: 181,212,130 (GRCm39) E363G probably damaging Het
Yeats2 T A 16: 19,980,718 (GRCm39) 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
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