Incidental Mutation 'IGL01481:4930590J08Rik'
ID88596
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 #IGL01481
Quality Score
Status
Chromosome6
Chromosomal Location91902809-91950725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 91933098 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 523 (S523C)
Ref Sequence ENSEMBL: ENSMUSP00000146101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059318] [ENSMUST00000205686]
Predicted Effect probably damaging
Transcript: ENSMUST00000059318
AA Change: S523C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063
AA Change: S523C

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: S523C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apaf1 A T 10: 91,031,588 D798E possibly damaging Het
Arhgef7 G T 8: 11,815,256 V410L probably benign Het
Capn7 T C 14: 31,355,339 L338P probably damaging Het
Cldn17 A G 16: 88,506,583 V86A probably benign Het
Clec4a2 A G 6: 123,142,500 N237S probably benign Het
Cmtr1 T G 17: 29,698,657 I654S probably benign Het
Cryzl2 G A 1: 157,470,739 probably null Het
Ctif A G 18: 75,611,784 probably benign Het
Dcaf7 T A 11: 106,054,746 I307N probably damaging Het
Drosha A T 15: 12,842,439 T399S probably benign Het
Eef2k A T 7: 120,895,218 Y35F probably benign Het
Emc1 T C 4: 139,362,099 S193P probably benign Het
Fpr2 T C 17: 17,892,763 I7T probably benign Het
Fras1 C A 5: 96,657,241 N1247K probably damaging Het
Gipr T C 7: 19,159,506 probably benign Het
Heatr5a C T 12: 51,955,425 G243S probably damaging Het
Hivep2 G A 10: 14,149,237 R2265Q probably benign Het
Iars T C 13: 49,728,698 S1073P probably benign Het
Inpp4b T C 8: 81,997,380 S514P probably damaging Het
Inpp5b T A 4: 124,800,699 probably null Het
Itga2 C T 13: 114,859,632 V708I possibly damaging Het
Itih5 A C 2: 10,190,289 Q164P probably damaging Het
Map3k19 T A 1: 127,822,478 E1045D probably damaging Het
Mbd5 T C 2: 49,278,939 V1374A possibly damaging Het
Mrps34 T C 17: 24,897,336 probably benign Het
Nadsyn1 T C 7: 143,812,584 D191G probably damaging Het
Nlrc3 T G 16: 3,963,905 N563H probably damaging Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1252 A G 2: 89,721,526 L195P probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr654 C A 7: 104,587,860 P36T probably damaging Het
Olfr981 T C 9: 40,023,278 M295T possibly damaging Het
Pdgfd C A 9: 6,337,271 T195K probably null Het
Ptprz1 C A 6: 22,999,980 Q690K probably benign Het
Scfd1 T A 12: 51,384,120 M23K probably damaging Het
Scn10a G A 9: 119,609,194 R1869C probably damaging Het
Scp2 T C 4: 108,074,442 probably null Het
Sec61a1 A G 6: 88,506,847 V354A probably benign Het
Sgpp1 T C 12: 75,722,657 I246V probably benign Het
Slco2a1 G T 9: 103,070,251 D250Y probably damaging Het
Slit2 A G 5: 48,302,931 N1435D probably benign Het
Sspo A G 6: 48,448,515 I23M probably benign Het
Steap4 A T 5: 7,976,858 T274S probably damaging Het
Tbc1d22b T C 17: 29,568,598 L107P possibly damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem45a2 T A 16: 57,047,012 I109F probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Tox T A 4: 6,842,396 T45S probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Wdr7 G A 18: 63,739,179 D395N 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
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
IGL03358:4930590J08Rik APN 6 91928735 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 On2013-11-18