Incidental Mutation 'IGL01065:1110038F14Rik'
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ID278137
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 #IGL01065
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,907,302 M299I probably damaging Het
Apob A G 12: 8,003,299 Y1247C probably damaging Het
Atg16l1 A T 1: 87,785,931 N401I probably damaging Het
Bcam T C 7: 19,756,799 H591R probably benign Het
Bcat1 T C 6: 145,000,289 S446G possibly damaging Het
C2cd5 A G 6: 143,078,279 S262P probably damaging Het
Clrn1 T C 3: 58,885,025 K6E probably damaging Het
D17H6S53E A T 17: 35,127,283 K57* probably null Het
Dennd1a T A 2: 37,844,905 I17F probably benign Het
Depdc7 A C 2: 104,722,081 Y460* probably null Het
Disp3 T C 4: 148,261,183 Y400C probably damaging Het
Edem3 T C 1: 151,777,551 Y203H probably damaging Het
Fam71a T C 1: 191,163,027 D473G probably benign Het
Fbxl5 A G 5: 43,745,334 C679R probably damaging Het
Fhad1 T C 4: 141,905,612 T1194A probably benign Het
Gipc2 A G 3: 152,102,657 L253P possibly damaging Het
Gpr26 T C 7: 131,967,501 Y192H probably damaging Het
Hoxb6 A G 11: 96,300,809 T186A probably damaging Het
Kif24 A G 4: 41,423,639 probably benign Het
Lonp1 T C 17: 56,615,500 probably benign Het
Lrp1 A G 10: 127,575,038 I1427T probably benign Het
Lrp2 C T 2: 69,469,436 E3091K possibly damaging Het
Lzts1 T C 8: 69,136,092 N404S probably benign Het
Map3k4 A T 17: 12,232,990 D1470E probably damaging Het
Med30 A T 15: 52,721,060 N125Y probably benign Het
Mgam G A 6: 40,662,710 probably null Het
Mrps33 G A 6: 39,802,513 R83* probably null Het
Notch3 A T 17: 32,146,416 Y1107* probably null Het
Rc3h2 T A 2: 37,377,844 probably benign Het
Rev1 T C 1: 38,099,009 E65G possibly damaging Het
Rgl1 T C 1: 152,519,142 N760S probably damaging Het
Slc16a4 T C 3: 107,303,100 I362T possibly damaging Het
Slc25a24 G A 3: 109,158,651 probably benign Het
Slc2a4 G T 11: 69,945,956 probably benign Het
Slc39a13 T A 2: 91,063,706 I256F probably damaging Het
Spdya A T 17: 71,556,325 N23I possibly damaging Het
Srpr T A 9: 35,213,438 W112R probably damaging Het
Tbc1d4 A C 14: 101,449,193 probably benign Het
Ttc39d G A 17: 80,216,274 G121R probably damaging Het
Tuba3a C T 6: 125,282,957 V9M possibly damaging Het
Upf2 A G 2: 5,961,300 K244E unknown Het
Usp39 T C 6: 72,339,975 Y141C 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
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
IGL01155:1110038F14Rik 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