Incidental Mutation 'IGL00981:4930503L19Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930503L19Rik
Ensembl Gene ENSMUSG00000044906
Gene NameRIKEN cDNA 4930503L19 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL00981
Quality Score
Chromosomal Location70452212-70472509 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 70453333 bp
Amino Acid Change Glutamine to Stop codon at position 478 (Q478*)
Ref Sequence ENSEMBL: ENSMUSP00000148818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067556] [ENSMUST00000211817] [ENSMUST00000212074] [ENSMUST00000212155] [ENSMUST00000212539] [ENSMUST00000212683] [ENSMUST00000212982]
Predicted Effect probably null
Transcript: ENSMUST00000067556
AA Change: Q522*
SMART Domains Protein: ENSMUSP00000065118
Gene: ENSMUSG00000044906
AA Change: Q522*

low complexity region 15 40 N/A INTRINSIC
Pfam:LAS2 161 235 2.8e-26 PFAM
Pfam:LAS2 325 387 9.2e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000211817
AA Change: Q254*
Predicted Effect probably null
Transcript: ENSMUST00000212074
AA Change: Q353*
Predicted Effect probably null
Transcript: ENSMUST00000212155
AA Change: Q478*
Predicted Effect probably benign
Transcript: ENSMUST00000212539
Predicted Effect probably benign
Transcript: ENSMUST00000212683
Predicted Effect probably benign
Transcript: ENSMUST00000212982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213066
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik A T 14: 49,772,990 L420Q probably damaging Het
Atp7b T C 8: 22,027,527 probably null Het
Bcan T A 3: 87,997,832 I2F possibly damaging Het
Boc A G 16: 44,491,801 S633P probably damaging Het
C2cd6 A G 1: 59,077,945 S130P probably damaging Het
Cacna1a T C 8: 84,548,553 F490L probably damaging Het
Carm1 T A 9: 21,587,194 D469E possibly damaging Het
Cdyl A T 13: 35,816,113 S126C probably damaging Het
Ceacam5 A T 7: 17,745,533 I192F probably benign Het
Cyp2b19 C T 7: 26,763,461 T256I possibly damaging Het
Dlgap5 C T 14: 47,398,468 E515K probably damaging Het
Eif3a A T 19: 60,766,611 D1044E unknown Het
Eif3i T A 4: 129,595,069 Y125F probably benign Het
Gnai1 T G 5: 18,267,047 N346T probably benign Het
Kcnd1 C T X: 7,836,433 T629I probably benign Het
Mcc A T 18: 44,449,349 N578K probably damaging Het
Ncoa6 C T 2: 155,406,179 R1735Q probably damaging Het
Nlrp4d A T 7: 10,382,094 noncoding transcript Het
Nsun5 A T 5: 135,375,395 Q352L possibly damaging Het
Olfr127 G A 17: 37,904,181 V212M probably benign Het
Olfr1537 A G 9: 39,237,605 V276A probably benign Het
Olfr715b C A 7: 107,106,061 E267* probably null Het
Olfr715b T A 7: 107,106,062 K266N probably benign Het
Pkdrej C T 15: 85,819,656 G693D probably damaging Het
Rpl10a-ps2 A T 13: 8,940,530 probably benign Het
Spink1 C T 18: 43,737,094 probably null Het
Sqle T C 15: 59,326,619 V464A probably damaging Het
Trav6-4 A T 14: 53,454,696 T84S probably damaging Het
Trim33 T A 3: 103,351,995 probably benign Het
Txlng T C X: 162,784,372 M319V probably benign Het
Wee1 A T 7: 110,139,669 E582D probably damaging Het
Other mutations in 4930503L19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:4930503L19Rik APN 18 70468035 missense possibly damaging 0.46
R0119:4930503L19Rik UTSW 18 70469482 nonsense probably null
R0299:4930503L19Rik UTSW 18 70469482 nonsense probably null
R0554:4930503L19Rik UTSW 18 70467380 missense probably damaging 1.00
R0657:4930503L19Rik UTSW 18 70469482 nonsense probably null
R0973:4930503L19Rik UTSW 18 70467926 unclassified probably null
R0973:4930503L19Rik UTSW 18 70467926 unclassified probably null
R0974:4930503L19Rik UTSW 18 70467926 unclassified probably null
R1710:4930503L19Rik UTSW 18 70468063 missense possibly damaging 0.83
R2046:4930503L19Rik UTSW 18 70467482 missense probably damaging 1.00
R2361:4930503L19Rik UTSW 18 70469575 missense probably damaging 1.00
R2936:4930503L19Rik UTSW 18 70468448 missense probably damaging 0.98
R5266:4930503L19Rik UTSW 18 70458384 missense probably damaging 1.00
R6317:4930503L19Rik UTSW 18 70468193 missense probably damaging 1.00
R6381:4930503L19Rik UTSW 18 70467717 missense probably damaging 1.00
R7108:4930503L19Rik UTSW 18 70468476 missense probably benign 0.30
Posted On2013-04-17