Incidental Mutation 'IGL01131:1110038F14Rik'
List |< first << previous [record 23 of 32981] next >> last >|
ID278196
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 #IGL01131
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Cfap20 T C 8: 95,424,659 D18G probably damaging Het
Cpne3 T C 4: 19,543,318 D160G probably damaging Het
Ercc3 A G 18: 32,269,889 *784W probably null Het
Fam53b T C 7: 132,715,782 E377G probably damaging Het
Far2 T C 6: 148,150,598 V125A possibly damaging Het
Fasn T C 11: 120,814,619 E1192G probably benign Het
Irf5 A G 6: 29,536,103 E372G probably damaging Het
Kif2c C T 4: 117,172,365 V140M probably damaging Het
Klre1 T C 6: 129,584,170 F165L possibly damaging Het
Kmt2a C T 9: 44,821,170 probably benign Het
Lrp2 C T 2: 69,499,239 C1728Y probably damaging Het
Muc4 C A 16: 32,753,901 T1259N possibly damaging Het
Nlrp9b A G 7: 20,023,537 D233G probably damaging Het
Nuf2 T C 1: 169,522,364 probably benign Het
Nynrin A G 14: 55,872,685 K1750E probably damaging Het
Olfr1463 A G 19: 13,234,739 D163G probably benign Het
Parp4 C A 14: 56,585,760 probably benign Het
Rbms1 T C 2: 60,758,836 M287V probably benign Het
Rhox3c G A X: 37,470,329 R71K probably damaging Het
Rufy1 A G 11: 50,392,023 L638P probably damaging Het
Slc15a3 G A 19: 10,857,622 probably benign Het
Slc26a9 T C 1: 131,755,542 probably null Het
Slc6a13 A G 6: 121,321,641 Y150C probably damaging Het
Slitrk6 A T 14: 110,751,576 L233Q probably damaging Het
Ugt3a2 T A 15: 9,365,162 I287N probably damaging Het
Unc13c T C 9: 73,564,053 N1778S probably benign Het
Vmn1r212 T C 13: 22,883,159 N335D unknown Het
Wdfy1 C T 1: 79,713,872 V273I probably benign 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
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