Incidental Mutation 'IGL01060:1110038F14Rik'
ID 278126
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 # IGL01060
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks4b A G 7: 119,773,148 (GRCm39) T3A possibly damaging Het
Arhgef26 T A 3: 62,247,542 (GRCm39) S209T probably benign Het
Ccdc78 A G 17: 26,007,806 (GRCm39) D281G probably damaging Het
Ccnb3 A T X: 6,846,513 (GRCm39) N1362K probably benign Het
Dnah2 T C 11: 69,368,918 (GRCm39) N1662S possibly damaging Het
Elp1 C T 4: 56,784,537 (GRCm39) probably null Het
Ern2 T A 7: 121,769,315 (GRCm39) R904W probably damaging Het
Fam120c C T X: 150,252,583 (GRCm39) P1045S probably benign Het
Gm12887 C T 4: 121,473,610 (GRCm39) probably benign Het
Gpld1 G A 13: 25,166,549 (GRCm39) G627S probably damaging Het
Krt77 T A 15: 101,769,315 (GRCm39) probably benign Het
Ltf A T 9: 110,851,950 (GRCm39) probably null Het
Map3k6 G T 4: 132,974,613 (GRCm39) probably null Het
Nsd1 G A 13: 55,411,242 (GRCm39) G1431D probably damaging Het
Plekhm2 C T 4: 141,369,956 (GRCm39) probably null Het
Popdc2 T A 16: 38,194,327 (GRCm39) N249K probably damaging Het
Ppm1h A G 10: 122,743,476 (GRCm39) D400G possibly damaging Het
Rps6ka1 A T 4: 133,588,181 (GRCm39) S320T probably damaging Het
Rsph6a C T 7: 18,788,793 (GRCm39) R42* probably null Het
Sap130 T C 18: 31,848,496 (GRCm39) L967P probably damaging Het
Smyd2 T C 1: 189,629,667 (GRCm39) E121G possibly damaging Het
Sspo G A 6: 48,426,413 (GRCm39) W144* probably null Het
Taar6 A G 10: 23,860,970 (GRCm39) V192A probably benign Het
Tbc1d24 A T 17: 24,404,802 (GRCm39) V114E probably damaging Het
Trim16 T C 11: 62,711,530 (GRCm39) I67T probably benign Het
Ttll7 A G 3: 146,615,337 (GRCm39) D267G possibly damaging Het
Ttn T C 2: 76,720,073 (GRCm39) probably benign Het
Vmn2r56 T A 7: 12,447,016 (GRCm39) I379F probably damaging Het
Zfp14 T C 7: 29,737,510 (GRCm39) T492A probably damaging Het
Other mutations in 1110038F14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL01133:1110038F14Rik 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