Incidental Mutation 'IGL03358:4930590J08Rik'
ID420013
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930590J08Rik
Ensembl Gene ENSMUSG00000034063
Gene NameRIKEN cDNA 4930590J08 gene
SynonymsLOC381798
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03358
Quality Score
Status
Chromosome6
Chromosomal Location91902809-91950725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 91928735 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 496 (N496D)
Ref Sequence ENSEMBL: ENSMUSP00000146101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059318] [ENSMUST00000205686]
Predicted Effect probably damaging
Transcript: ENSMUST00000059318
AA Change: N496D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063
AA Change: N496D

DomainStartEndE-ValueType
low complexity region 89 109 N/A INTRINSIC
Pfam:FAM194 357 561 4.1e-68 PFAM
low complexity region 626 637 N/A INTRINSIC
transmembrane domain 774 796 N/A INTRINSIC
low complexity region 891 909 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205686
AA Change: N496D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik T C 16: 64,766,546 I272V possibly damaging Het
Adcy2 C T 13: 68,729,277 G448E probably damaging Het
Alad G A 4: 62,510,607 probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Appbp2 A T 11: 85,210,034 M193K probably benign Het
Cd300a G A 11: 114,897,797 M204I possibly damaging Het
Cep350 T A 1: 155,928,539 M933L probably benign Het
Cyp2s1 T A 7: 25,808,148 N292I probably damaging Het
Ddx58 T C 4: 40,206,069 E841G possibly damaging Het
Gnl2 T C 4: 125,052,594 I536T probably damaging Het
Ift140 C T 17: 25,087,984 R898C probably damaging Het
Oosp2 A T 19: 11,651,569 L56* probably null Het
Pars2 A T 4: 106,653,042 H7L probably benign Het
Pbx4 T C 8: 69,859,111 S59P probably benign Het
Psg20 G T 7: 18,680,966 H332N probably benign Het
Slc6a13 G A 6: 121,334,536 V384I probably benign Het
Spg21 G A 9: 65,480,416 V164I probably benign Het
Tnc A T 4: 64,017,615 C361* probably null Het
Tsr1 T C 11: 74,903,998 V493A probably benign Het
Ube2u A G 4: 100,547,275 probably benign Het
Vav3 G A 3: 109,647,673 G79E probably damaging Het
Vmn1r81 T G 7: 12,260,305 R125S possibly damaging Het
Vmn2r45 A C 7: 8,471,716 L771R probably damaging Het
Vps54 T A 11: 21,268,799 H119Q probably damaging Het
Other mutations in 4930590J08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:4930590J08Rik APN 6 91919118 missense possibly damaging 0.74
IGL01478:4930590J08Rik APN 6 91934609 missense probably benign 0.01
IGL01481:4930590J08Rik APN 6 91933098 missense probably damaging 1.00
IGL01485:4930590J08Rik APN 6 91950022 missense probably damaging 0.96
IGL01794:4930590J08Rik APN 6 91918112 nonsense probably null
IGL01795:4930590J08Rik APN 6 91918112 nonsense probably null
IGL02040:4930590J08Rik APN 6 91918110 missense probably benign
IGL02171:4930590J08Rik APN 6 91944256 missense probably benign 0.01
IGL02968:4930590J08Rik APN 6 91923473 missense probably damaging 1.00
PIT4519001:4930590J08Rik UTSW 6 91917057 missense probably damaging 1.00
R0531:4930590J08Rik UTSW 6 91915146 missense probably benign
R0569:4930590J08Rik UTSW 6 91942578 nonsense probably null
R1536:4930590J08Rik UTSW 6 91917035 missense probably benign 0.20
R1730:4930590J08Rik UTSW 6 91919278 missense possibly damaging 0.60
R1758:4930590J08Rik UTSW 6 91915222 missense possibly damaging 0.79
R1783:4930590J08Rik UTSW 6 91919278 missense possibly damaging 0.60
R1911:4930590J08Rik UTSW 6 91950069 splice site probably benign
R1930:4930590J08Rik UTSW 6 91915021 missense probably benign 0.01
R1936:4930590J08Rik UTSW 6 91917080 missense possibly damaging 0.90
R2157:4930590J08Rik UTSW 6 91917698 splice site probably null
R2157:4930590J08Rik UTSW 6 91942487 missense possibly damaging 0.48
R4072:4930590J08Rik UTSW 6 91945361 splice site probably null
R4662:4930590J08Rik UTSW 6 91914958 missense probably benign
R4900:4930590J08Rik UTSW 6 91918110 missense probably benign
R4936:4930590J08Rik UTSW 6 91944264 missense probably damaging 1.00
R5394:4930590J08Rik UTSW 6 91919193 missense probably benign 0.00
R5887:4930590J08Rik UTSW 6 91915143 nonsense probably null
R5931:4930590J08Rik UTSW 6 91919115 missense probably damaging 1.00
R6174:4930590J08Rik UTSW 6 91942536 missense probably damaging 0.99
R6179:4930590J08Rik UTSW 6 91942330 missense probably damaging 0.96
R6380:4930590J08Rik UTSW 6 91923137 missense probably damaging 1.00
R6531:4930590J08Rik UTSW 6 91949999 missense possibly damaging 0.88
R7570:4930590J08Rik UTSW 6 91934610 missense probably benign 0.03
R7860:4930590J08Rik UTSW 6 91928726 missense probably damaging 1.00
R7943:4930590J08Rik UTSW 6 91928726 missense probably damaging 1.00
Posted On2016-08-02