Incidental Mutation 'IGL01155:1110038F14Rik'
ID 278229
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 # IGL01155
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T A 5: 81,708,740 (GRCm39) I409N probably benign Het
Akap13 A G 7: 75,219,684 (GRCm39) D29G probably damaging Het
Ap4e1 C A 2: 126,885,365 (GRCm39) T322K probably damaging Het
Arfgef1 G A 1: 10,269,207 (GRCm39) probably benign Het
Asic5 A G 3: 81,915,895 (GRCm39) T282A probably benign Het
Bptf T C 11: 106,971,553 (GRCm39) T985A probably damaging Het
Btnl9 A G 11: 49,066,518 (GRCm39) F349L probably damaging Het
Bves T A 10: 45,229,955 (GRCm39) I253K probably damaging Het
Cars1 T A 7: 143,123,586 (GRCm39) Y455F probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cuedc2 C A 19: 46,321,088 (GRCm39) V15F probably damaging Het
Defa22 T A 8: 21,653,053 (GRCm39) probably null Het
Fat1 G A 8: 45,476,986 (GRCm39) A2011T probably damaging Het
Fyb2 C T 4: 104,856,583 (GRCm39) T533I probably benign Het
Gm1043 T C 5: 37,344,433 (GRCm39) L182P probably damaging Het
Ice1 A T 13: 70,752,201 (GRCm39) V1295E possibly damaging Het
Il12b T A 11: 44,294,915 (GRCm39) S18T probably benign Het
Iqcg A G 16: 32,861,245 (GRCm39) V157A probably damaging Het
Itgax T A 7: 127,744,207 (GRCm39) M937K probably benign Het
Large1 T C 8: 73,858,617 (GRCm39) S84G probably benign Het
Lrp1b T C 2: 41,660,947 (GRCm39) T54A probably benign Het
Mfn1 A G 3: 32,596,985 (GRCm39) M148V probably damaging Het
Mobp C A 9: 119,997,300 (GRCm39) T73K probably benign Het
Ms4a3 T C 19: 11,607,019 (GRCm39) probably benign Het
Muc5ac C T 7: 141,360,680 (GRCm39) probably benign Het
Mzt2 A C 16: 15,680,274 (GRCm39) S104A possibly damaging Het
Naa16 T A 14: 79,622,155 (GRCm39) K27N probably damaging Het
Nos1 T A 5: 118,083,991 (GRCm39) I1267N probably damaging Het
Or10j5 T A 1: 172,784,491 (GRCm39) I43N probably benign Het
Rara A G 11: 98,859,010 (GRCm39) E153G possibly damaging Het
Scn2a T G 2: 65,548,092 (GRCm39) S66A probably damaging Het
Slc6a1 A T 6: 114,291,426 (GRCm39) probably null Het
Sorbs3 A G 14: 70,436,790 (GRCm39) V136A probably damaging Het
Spink5 T A 18: 44,114,214 (GRCm39) H143Q probably benign Het
Susd2 G A 10: 75,476,726 (GRCm39) T99I possibly damaging Het
T C T 17: 8,660,577 (GRCm39) probably null Het
Tac2 G A 10: 127,562,003 (GRCm39) probably null Het
Tfap4 G T 16: 4,365,223 (GRCm39) P180T probably damaging Het
Trap1 G A 16: 3,861,842 (GRCm39) Q641* probably null Het
Unc119 A G 11: 78,239,435 (GRCm39) N252S 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
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
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