Incidental Mutation 'IGL01133:1110038F14Rik'
ID278201
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 #IGL01133
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,595,434 D486E probably damaging Het
1700007G11Rik T C 5: 98,498,381 probably null Het
Adam4 T C 12: 81,421,446 T134A possibly damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
BC005561 A G 5: 104,517,662 T17A probably benign Het
Cartpt T G 13: 99,900,040 I67L probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Ccer1 T C 10: 97,694,539 F355L probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cfap36 A C 11: 29,234,414 V114G probably damaging Het
Col4a3bp A G 13: 96,614,802 E320G probably damaging Het
Cyp2b9 G A 7: 26,210,235 G476D probably damaging Het
Eif3l T C 15: 79,076,920 Y58H possibly damaging Het
Gapvd1 T C 2: 34,725,398 Y411C probably damaging Het
Gm27029 G T 11: 101,411,960 F236L possibly damaging Het
Golga1 T C 2: 39,023,472 T501A probably benign Het
Heg1 C T 16: 33,727,287 H815Y probably benign Het
Krt1 A T 15: 101,848,193 D298E probably damaging Het
Mecr T A 4: 131,843,596 S32T probably benign Het
Med1 A T 11: 98,157,986 Y661* probably null Het
Olfr419 T C 1: 174,250,526 S134G probably benign Het
Pla2g12b G T 10: 59,416,417 A37S probably benign Het
Plekha7 G T 7: 116,145,241 probably null Het
Ralgapa1 T C 12: 55,642,348 I1989V probably damaging Het
Ralgapa1 T C 12: 55,642,359 H1938R probably damaging Het
Sec31b A G 19: 44,527,041 F309S probably damaging Het
Serpina3a T C 12: 104,121,499 I227T probably benign Het
Slc1a3 A G 15: 8,645,687 I278T probably damaging Het
Slc1a3 T C 15: 8,650,993 Y127C probably damaging Het
Spen T C 4: 141,489,901 K449R unknown Het
Tmem130 A G 5: 144,752,445 S129P probably damaging Het
Trim68 A T 7: 102,679,141 probably null Het
Vdac3-ps1 T C 13: 18,031,449 noncoding transcript Het
Vmn2r75 A G 7: 86,148,032 probably benign Het
Zbtb9 G T 17: 26,975,011 probably benign Het
Zfp568 T A 7: 29,987,808 probably null 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
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