Incidental Mutation 'IGL02456:4921511C20Rik'
ID294166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4921511C20Rik
Ensembl Gene ENSMUSG00000049815
Gene NameRIKEN cDNA 4921511C20 gene
SynonymsLOC245598
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02456
Quality Score
Status
ChromosomeX
Chromosomal Location127394293-127395898 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 127394961 bp
ZygosityHeterozygous
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]
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
0610009O20Rik T A 18: 38,261,124 L458Q probably damaging Het
Apc C A 18: 34,313,882 S1243* probably null Het
Atp8b5 A G 4: 43,365,578 T731A probably benign Het
Bcl2a1c T A 9: 114,330,390 F79I probably damaging Het
Brip1 G T 11: 86,065,099 L863I possibly damaging Het
Cbx4 T A 11: 119,082,112 K146* probably null Het
Ccdc36 G T 9: 108,406,621 T208K probably benign Het
Ces1a C T 8: 93,039,498 V163I possibly damaging Het
Ces5a C T 8: 93,528,644 probably benign Het
Cfhr1 A C 1: 139,556,393 N128K possibly damaging Het
Clcn3 T C 8: 60,941,357 D46G probably damaging Het
Cntnap1 T G 11: 101,178,129 I166S probably benign Het
Cntnap3 A T 13: 64,799,058 probably benign Het
Cntnap5c T A 17: 58,407,744 probably benign Het
Ddx23 A T 15: 98,647,549 V626E probably damaging Het
Gcm2 T C 13: 41,103,001 Y424C probably benign Het
Gm9964 A G 11: 79,296,370 F84L probably damaging Het
Grn T A 11: 102,436,104 D509E probably benign Het
Kdm5c G A X: 152,246,318 D343N probably damaging Het
Ly75 C T 2: 60,293,781 M1717I probably benign Het
Map1a C A 2: 121,298,653 P133T probably damaging Het
Mpp2 C A 11: 102,059,373 A552S possibly damaging Het
Mtr T C 13: 12,199,094 I897M probably damaging Het
Npas3 A T 12: 54,048,767 I337F probably damaging Het
Nup85 T C 11: 115,581,865 probably benign Het
Olfr118 T A 17: 37,672,449 M142K possibly damaging Het
Olfr325 T A 11: 58,581,198 L118H possibly damaging Het
Olfr517 A G 7: 108,869,050 Y35H probably benign Het
Olfr630 T A 7: 103,755,493 I31F possibly damaging Het
Olfr683 T C 7: 105,143,759 N178S probably damaging Het
Pdia4 A T 6: 47,803,495 D301E probably benign Het
Phf2 C A 13: 48,828,846 G134C unknown Het
Polr2h T A 16: 20,720,602 L76H probably damaging Het
Rbm47 G A 5: 66,027,021 R80C probably damaging Het
Sfmbt1 T C 14: 30,785,880 S286P probably damaging Het
Slc5a12 T C 2: 110,616,834 probably benign Het
Tacc2 T C 7: 130,626,261 S1559P probably benign Het
Tbc1d16 T G 11: 119,210,546 H46P probably damaging Het
Tbck A G 3: 132,734,714 probably benign Het
Tmtc4 A T 14: 122,925,962 probably null Het
Ttc13 T C 8: 124,690,361 probably null Het
Ttc17 T C 2: 94,362,785 probably benign Het
Vmn1r121 T A 7: 21,098,513 M1L possibly damaging Het
Vps13c T C 9: 67,952,976 S2825P probably damaging Het
Zan A C 5: 137,446,844 S1718A unknown Het
Zfp39 G T 11: 58,902,800 Y37* probably null Het
Zfp407 T C 18: 84,558,641 N1449S probably damaging Het
Zhx2 C A 15: 57,823,639 D801E possibly damaging Het
Other mutations in 4921511C20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02215:4921511C20Rik APN X 127395573 missense probably benign 0.00
IGL02565:4921511C20Rik APN X 127395054 missense probably benign 0.16
IGL03222:4921511C20Rik APN X 127395470 missense probably benign
IGL03246:4921511C20Rik APN X 127395615 missense probably benign 0.41
IGL03299:4921511C20Rik APN X 127395853 utr 3 prime probably benign
Z1176:4921511C20Rik UTSW X 127394842 missense probably damaging 0.99
Posted On2015-04-16