Incidental Mutation 'IGL00981:4930503L19Rik'
ID29469
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930503L19Rik
Ensembl Gene ENSMUSG00000044906
Gene NameRIKEN cDNA 4930503L19 gene
SynonymsLas2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL00981
Quality Score
Status
Chromosome18
Chromosomal Location70452212-70472509 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 70453333 bp
ZygosityHeterozygous
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*

DomainStartEndE-ValueType
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