Incidental Mutation 'IGL01155:1110038F14Rik'
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ID278229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1110038F14Rik
Ensembl Gene ENSMUSG00000063236
Gene NameRIKEN cDNA 1110038F14 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01155
Quality Score
Status
Chromosome15
Chromosomal Location76948506-76950979 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 76950275 bp
ZygosityHeterozygous
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]
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: 81,560,893 I409N probably benign Het
Akap13 A G 7: 75,569,936 D29G probably damaging Het
Ap4e1 C A 2: 127,043,445 T322K probably damaging Het
Arfgef1 G A 1: 10,198,982 probably benign Het
Asic5 A G 3: 82,008,588 T282A probably benign Het
Bptf T C 11: 107,080,727 T985A probably damaging Het
Btnl9 A G 11: 49,175,691 F349L probably damaging Het
Bves T A 10: 45,353,859 I253K probably damaging Het
Cars T A 7: 143,569,849 Y455F probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cuedc2 C A 19: 46,332,649 V15F probably damaging Het
Defa22 T A 8: 21,163,037 probably null Het
Fat1 G A 8: 45,023,949 A2011T probably damaging Het
Fyb2 C T 4: 104,999,386 T533I probably benign Het
Gm1043 T C 5: 37,187,089 L182P probably damaging Het
Ice1 A T 13: 70,604,082 V1295E possibly damaging Het
Il12b T A 11: 44,404,088 S18T probably benign Het
Iqcg A G 16: 33,040,875 V157A probably damaging Het
Itgax T A 7: 128,145,035 M937K probably benign Het
Large1 T C 8: 73,131,989 S84G probably benign Het
Lrp1b T C 2: 41,770,935 T54A probably benign Het
Mfn1 A G 3: 32,542,836 M148V probably damaging Het
Mobp C A 9: 120,168,234 T73K probably benign Het
Ms4a3 T C 19: 11,629,655 probably benign Het
Muc5ac C T 7: 141,806,943 probably benign Het
Mzt2 A C 16: 15,862,410 S104A possibly damaging Het
Naa16 T A 14: 79,384,715 K27N probably damaging Het
Nos1 T A 5: 117,945,926 I1267N probably damaging Het
Olfr16 T A 1: 172,956,924 I43N probably benign Het
Rara A G 11: 98,968,184 E153G possibly damaging Het
Scn2a T G 2: 65,717,748 S66A probably damaging Het
Slc6a1 A T 6: 114,314,465 probably null Het
Sorbs3 A G 14: 70,199,341 V136A probably damaging Het
Spink5 T A 18: 43,981,147 H143Q probably benign Het
Susd2 G A 10: 75,640,892 T99I possibly damaging Het
T C T 17: 8,441,745 probably null Het
Tac2 G A 10: 127,726,134 probably null Het
Tfap4 G T 16: 4,547,359 P180T probably damaging Het
Trap1 G A 16: 4,043,978 Q641* probably null Het
Unc119 A G 11: 78,348,609 N252S probably damaging Het
Other mutations in 1110038F14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:1110038F14Rik APN 15 76950275 missense probably damaging 1.00
IGL01063:1110038F14Rik APN 15 76950275 missense probably damaging 1.00
IGL01065:1110038F14Rik APN 15 76950275 missense probably damaging 1.00
IGL01066:1110038F14Rik APN 15 76950275 missense probably damaging 1.00
IGL01067:1110038F14Rik APN 15 76950275 missense probably damaging 1.00
IGL01069:1110038F14Rik APN 15 76950275 missense probably damaging 1.00
IGL01070:1110038F14Rik APN 15 76950275 missense probably damaging 1.00
IGL01128:1110038F14Rik APN 15 76950275 missense probably damaging 1.00
IGL01131:1110038F14Rik APN 15 76950275 missense probably damaging 1.00
IGL01132:1110038F14Rik APN 15 76950275 missense probably damaging 1.00
IGL01133:1110038F14Rik APN 15 76950275 missense probably damaging 1.00
IGL01134:1110038F14Rik APN 15 76950275 missense probably damaging 1.00
IGL01135:1110038F14Rik APN 15 76950275 missense probably damaging 1.00
IGL01154:1110038F14Rik APN 15 76950275 missense probably damaging 1.00
IGL02472:1110038F14Rik APN 15 76950378 missense probably damaging 0.98
ANU05:1110038F14Rik UTSW 15 76950275 missense probably damaging 1.00
R1845:1110038F14Rik UTSW 15 76949663 small insertion probably benign
R4023:1110038F14Rik UTSW 15 76949663 small insertion probably benign
Posted On2015-04-16