Incidental Mutation 'IGL01793:D930020B18Rik'
ID155279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D930020B18Rik
Ensembl Gene ENSMUSG00000047642
Gene NameRIKEN cDNA D930020B18 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01793
Quality Score
Status
Chromosome10
Chromosomal Location121641588-121693915 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121671831 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 158 (I158T)
Ref Sequence ENSEMBL: ENSMUSP00000118939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120642] [ENSMUST00000132744] [ENSMUST00000140802] [ENSMUST00000142501]
Predicted Effect probably damaging
Transcript: ENSMUST00000120642
AA Change: I361T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113963
Gene: ENSMUSG00000047642
AA Change: I361T

DomainStartEndE-ValueType
Pfam:DUF4551 11 617 3.2e-237 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132744
AA Change: I185T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118274
Gene: ENSMUSG00000047642
AA Change: I185T

DomainStartEndE-ValueType
Pfam:DUF4551 1 148 3.6e-66 PFAM
Pfam:DUF4551 142 443 6.1e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140802
SMART Domains Protein: ENSMUSP00000121976
Gene: ENSMUSG00000047642

DomainStartEndE-ValueType
Pfam:DUF4551 1 151 8.7e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142501
AA Change: I158T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118939
Gene: ENSMUSG00000047642
AA Change: I158T

DomainStartEndE-ValueType
Pfam:DUF4551 1 182 1.3e-74 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 A G 1: 58,336,624 I871V possibly damaging Het
Bbs7 A T 3: 36,605,682 probably null Het
Drc7 T C 8: 95,071,277 I441T probably benign Het
Etl4 T C 2: 20,743,898 I147T possibly damaging Het
Fat1 G A 8: 44,989,112 M1150I probably benign Het
Fbn1 T C 2: 125,387,293 S523G possibly damaging Het
Gramd1a C T 7: 31,134,413 probably null Het
Hc A G 2: 35,028,190 Y694H probably damaging Het
Kif6 T A 17: 49,624,493 I73N probably damaging Het
Large1 A G 8: 72,859,181 probably benign Het
Luzp2 G T 7: 55,172,249 L171F probably damaging Het
Naaladl1 C A 19: 6,109,631 probably null Het
Otop1 G A 5: 38,299,871 A325T possibly damaging Het
Parp8 T A 13: 116,910,879 Y219F probably damaging Het
Pkp3 A G 7: 141,088,904 I660V probably benign Het
Plin3 T C 17: 56,281,540 N238S probably benign Het
Ppef2 A T 5: 92,246,756 D186E probably damaging Het
Rab40c G A 17: 25,884,622 L156F probably damaging Het
Scnn1a T C 6: 125,343,703 V547A probably benign Het
Spag6l A G 16: 16,781,857 V247A probably damaging Het
Syne1 T C 10: 5,352,191 E853G possibly damaging Het
Synj2 T A 17: 6,038,046 H1457Q probably benign Het
Synj2 C T 17: 6,027,225 R460* probably null Het
Syt1 T C 10: 108,583,975 D275G possibly damaging Het
Tmx1 A G 12: 70,458,787 D108G probably benign Het
Vmn1r180 T C 7: 23,953,243 V277A probably benign Het
Vmn1r83 C T 7: 12,321,577 M184I probably benign Het
Zfp750 G T 11: 121,513,984 P22T probably damaging Het
Zscan2 A G 7: 80,874,944 I138V probably null Het
Other mutations in D930020B18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:D930020B18Rik APN 10 121685584 missense probably damaging 1.00
IGL01669:D930020B18Rik APN 10 121683961 missense probably benign 0.03
IGL01907:D930020B18Rik APN 10 121642010 missense probably damaging 0.97
IGL01981:D930020B18Rik APN 10 121692414 missense probably damaging 0.98
IGL02545:D930020B18Rik APN 10 121689933 missense possibly damaging 0.87
IGL03024:D930020B18Rik APN 10 121685622 splice site probably benign
R0022:D930020B18Rik UTSW 10 121671770 missense probably damaging 0.97
R0023:D930020B18Rik UTSW 10 121689821 missense probably damaging 0.99
R1872:D930020B18Rik UTSW 10 121641974 missense probably damaging 1.00
R2340:D930020B18Rik UTSW 10 121654836 missense probably damaging 1.00
R4074:D930020B18Rik UTSW 10 121656218 intron probably benign
R4990:D930020B18Rik UTSW 10 121654761 missense probably damaging 1.00
R4990:D930020B18Rik UTSW 10 121654762 missense probably damaging 1.00
R4992:D930020B18Rik UTSW 10 121654761 missense probably damaging 1.00
R4992:D930020B18Rik UTSW 10 121654762 missense probably damaging 1.00
R5096:D930020B18Rik UTSW 10 121667804 missense probably benign 0.19
R5677:D930020B18Rik UTSW 10 121669201 missense probably benign 0.00
R6401:D930020B18Rik UTSW 10 121641857 missense possibly damaging 0.95
R6481:D930020B18Rik UTSW 10 121661148 critical splice donor site probably null
R7070:D930020B18Rik UTSW 10 121641974 missense probably damaging 1.00
R7250:D930020B18Rik UTSW 10 121671831 missense probably damaging 1.00
R7365:D930020B18Rik UTSW 10 121667811 splice site probably null
R7408:D930020B18Rik UTSW 10 121689834 missense probably damaging 1.00
R7446:D930020B18Rik UTSW 10 121667745 missense possibly damaging 0.94
R7559:D930020B18Rik UTSW 10 121656226 intron probably benign
X0021:D930020B18Rik UTSW 10 121641885 missense probably null 1.00
Z1176:D930020B18Rik UTSW 10 121667616 missense probably benign 0.01
Z1177:D930020B18Rik UTSW 10 121689912 missense probably damaging 1.00
Posted On2014-02-04