Incidental Mutation 'IGL02456:4921511C20Rik'
ID 294166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4921511C20Rik
Ensembl Gene ENSMUSG00000049815
Gene Name RIKEN cDNA 4921511C20 gene
Synonyms LOC245598
Accession Numbers
Essential gene? Not available question?
Stock # IGL02456
Quality Score
Status
Chromosome X
Chromosomal Location 126301916-126303521 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 126302584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 174 (Y174*)
Ref Sequence ENSEMBL: ENSMUSP00000059542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051530]
AlphaFold Q8BVT7
Predicted Effect probably null
Transcript: ENSMUST00000051530
AA Change: Y174*
SMART Domains Protein: ENSMUSP00000059542
Gene: ENSMUSG00000049815
AA Change: Y174*

DomainStartEndE-ValueType
KH 6 75 2.35e0 SMART
KH 79 177 4.11e-1 SMART
KH 178 244 2.48e-12 SMART
KH 256 326 1.1e-4 SMART
KH 330 398 1.11e-5 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc C A 18: 34,446,935 (GRCm39) S1243* probably null Het
Atp8b5 A G 4: 43,365,578 (GRCm39) T731A probably benign Het
Bcl2a1c T A 9: 114,159,458 (GRCm39) F79I probably damaging Het
Brip1 G T 11: 85,955,925 (GRCm39) L863I possibly damaging Het
Cbx4 T A 11: 118,972,938 (GRCm39) K146* probably null Het
Ces1a C T 8: 93,766,126 (GRCm39) V163I possibly damaging Het
Ces5a C T 8: 94,255,272 (GRCm39) probably benign Het
Cfhr1 A C 1: 139,484,131 (GRCm39) N128K possibly damaging Het
Clcn3 T C 8: 61,394,391 (GRCm39) D46G probably damaging Het
Cntnap1 T G 11: 101,068,955 (GRCm39) I166S probably benign Het
Cntnap3 A T 13: 64,946,872 (GRCm39) probably benign Het
Cntnap5c T A 17: 58,714,739 (GRCm39) probably benign Het
Ddx23 A T 15: 98,545,430 (GRCm39) V626E probably damaging Het
Dele1 T A 18: 38,394,177 (GRCm39) L458Q probably damaging Het
Gcm2 T C 13: 41,256,477 (GRCm39) Y424C probably benign Het
Gm9964 A G 11: 79,187,196 (GRCm39) F84L probably damaging Het
Grn T A 11: 102,326,930 (GRCm39) D509E probably benign Het
Iho1 G T 9: 108,283,820 (GRCm39) T208K probably benign Het
Kdm5c G A X: 151,029,314 (GRCm39) D343N probably damaging Het
Ly75 C T 2: 60,124,125 (GRCm39) M1717I probably benign Het
Map1a C A 2: 121,129,134 (GRCm39) P133T probably damaging Het
Mpp2 C A 11: 101,950,199 (GRCm39) A552S possibly damaging Het
Mtr T C 13: 12,213,980 (GRCm39) I897M probably damaging Het
Npas3 A T 12: 54,095,550 (GRCm39) I337F probably damaging Het
Nup85 T C 11: 115,472,691 (GRCm39) probably benign Het
Or10a49 A G 7: 108,468,257 (GRCm39) Y35H probably benign Het
Or10al2 T A 17: 37,983,340 (GRCm39) M142K possibly damaging Het
Or2t46 T A 11: 58,472,024 (GRCm39) L118H possibly damaging Het
Or51l4 T A 7: 103,404,700 (GRCm39) I31F possibly damaging Het
Or56a5 T C 7: 104,792,966 (GRCm39) N178S probably damaging Het
Pdia4 A T 6: 47,780,429 (GRCm39) D301E probably benign Het
Phf2 C A 13: 48,982,322 (GRCm39) G134C unknown Het
Polr2h T A 16: 20,539,352 (GRCm39) L76H probably damaging Het
Rbm47 G A 5: 66,184,364 (GRCm39) R80C probably damaging Het
Sfmbt1 T C 14: 30,507,837 (GRCm39) S286P probably damaging Het
Slc5a12 T C 2: 110,447,179 (GRCm39) probably benign Het
Tacc2 T C 7: 130,227,991 (GRCm39) S1559P probably benign Het
Tbc1d16 T G 11: 119,101,372 (GRCm39) H46P probably damaging Het
Tbck A G 3: 132,440,475 (GRCm39) probably benign Het
Tmtc4 A T 14: 123,163,374 (GRCm39) probably null Het
Ttc13 T C 8: 125,417,100 (GRCm39) probably null Het
Ttc17 T C 2: 94,193,130 (GRCm39) probably benign Het
Vmn1r121 T A 7: 20,832,438 (GRCm39) M1L possibly damaging Het
Vps13c T C 9: 67,860,258 (GRCm39) S2825P probably damaging Het
Zan A C 5: 137,445,106 (GRCm39) S1718A unknown Het
Zfp39 G T 11: 58,793,626 (GRCm39) Y37* probably null Het
Zfp407 T C 18: 84,576,766 (GRCm39) N1449S probably damaging Het
Zhx2 C A 15: 57,687,035 (GRCm39) D801E possibly damaging Het
Other mutations in 4921511C20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02215:4921511C20Rik APN X 126,303,196 (GRCm39) missense probably benign 0.00
IGL02565:4921511C20Rik APN X 126,302,677 (GRCm39) missense probably benign 0.16
IGL03222:4921511C20Rik APN X 126,303,093 (GRCm39) missense probably benign
IGL03246:4921511C20Rik APN X 126,303,238 (GRCm39) missense probably benign 0.41
IGL03299:4921511C20Rik APN X 126,303,476 (GRCm39) utr 3 prime probably benign
Z1176:4921511C20Rik UTSW X 126,302,465 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16