Incidental Mutation 'IGL01133:1110038F14Rik'
ID 278201
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 # IGL01133
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T C 12: 81,468,220 (GRCm39) T134A possibly damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Cartpt T G 13: 100,036,548 (GRCm39) I67L probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ccer1 T C 10: 97,530,401 (GRCm39) F355L probably benign Het
Cert1 A G 13: 96,751,310 (GRCm39) E320G probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cfap299 T C 5: 98,646,240 (GRCm39) probably null Het
Cfap36 A C 11: 29,184,414 (GRCm39) V114G probably damaging Het
Cyp2b9 G A 7: 25,909,660 (GRCm39) G476D probably damaging Het
Eif3l T C 15: 78,961,120 (GRCm39) Y58H possibly damaging Het
Gapvd1 T C 2: 34,615,410 (GRCm39) Y411C probably damaging Het
Gm27029 G T 11: 101,302,786 (GRCm39) F236L possibly damaging Het
Golga1 T C 2: 38,913,484 (GRCm39) T501A probably benign Het
Heg1 C T 16: 33,547,657 (GRCm39) H815Y probably benign Het
Krt1 A T 15: 101,756,628 (GRCm39) D298E probably damaging Het
Mecr T A 4: 131,570,907 (GRCm39) S32T probably benign Het
Med1 A T 11: 98,048,812 (GRCm39) Y661* probably null Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Pla2g12b G T 10: 59,252,239 (GRCm39) A37S probably benign Het
Plekha7 G T 7: 115,744,476 (GRCm39) probably null Het
Ralgapa1 T C 12: 55,689,133 (GRCm39) I1989V probably damaging Het
Ralgapa1 T C 12: 55,689,144 (GRCm39) H1938R probably damaging Het
Sanbr A T 11: 23,545,434 (GRCm39) D486E probably damaging Het
Sec31b A G 19: 44,515,480 (GRCm39) F309S probably damaging Het
Serpina3a T C 12: 104,087,758 (GRCm39) I227T probably benign Het
Slc1a3 A G 15: 8,675,171 (GRCm39) I278T probably damaging Het
Slc1a3 T C 15: 8,680,477 (GRCm39) Y127C probably damaging Het
Spen T C 4: 141,217,212 (GRCm39) K449R unknown Het
Thoc2l A G 5: 104,665,528 (GRCm39) T17A probably benign Het
Tmem130 A G 5: 144,689,255 (GRCm39) S129P probably damaging Het
Trim68 A T 7: 102,328,348 (GRCm39) probably null Het
Vdac3-ps1 T C 13: 18,206,034 (GRCm39) noncoding transcript Het
Vmn2r75 A G 7: 85,797,240 (GRCm39) probably benign Het
Zbtb9 G T 17: 27,193,985 (GRCm39) probably benign Het
Zfp568 T A 7: 29,687,233 (GRCm39) probably null 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
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
IGL01155:1110038F14Rik 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