Incidental Mutation 'IGL02545:D930020B18Rik'
ID297798
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 #IGL02545
Quality Score
Status
Chromosome10
Chromosomal Location121641588-121693915 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121689933 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 580 (H580R)
Ref Sequence ENSEMBL: ENSMUSP00000113963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120642] [ENSMUST00000132744] [ENSMUST00000140802]
Predicted Effect possibly damaging
Transcript: ENSMUST00000120642
AA Change: H580R

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113963
Gene: ENSMUSG00000047642
AA Change: H580R

DomainStartEndE-ValueType
Pfam:DUF4551 11 617 3.2e-237 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132744
AA Change: H404R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000118274
Gene: ENSMUSG00000047642
AA Change: H404R

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 160,075,424 L88P probably damaging Het
Adamtsl4 G A 3: 95,683,374 Q354* probably null Het
Aox3 A C 1: 58,183,486 D1146A probably damaging Het
Ap2a1 T A 7: 44,906,426 H340L probably damaging Het
Ccni G T 5: 93,187,777 F167L probably benign Het
Ctcf A G 8: 105,664,381 T207A probably benign Het
Dock3 A T 9: 107,062,072 L159Q probably damaging Het
Dync1i2 T C 2: 71,262,751 I630T possibly damaging Het
Fchsd2 A G 7: 101,198,508 T202A probably benign Het
Gdi2 A G 13: 3,557,009 Y214C probably damaging Het
Gna14 T A 19: 16,533,726 S46R probably damaging Het
Hfm1 A G 5: 106,895,287 I627T probably damaging Het
Ighv1-19 G A 12: 114,708,739 A87V probably damaging Het
Itch G A 2: 155,172,586 probably null Het
Klrb1b T C 6: 128,820,309 Q72R possibly damaging Het
Lrpprc A G 17: 84,775,425 F144L probably benign Het
Lrrc7 A G 3: 158,185,374 probably benign Het
Ndufa11 T A 17: 56,721,338 F72L probably damaging Het
Neu1 T A 17: 34,931,501 V32E probably benign Het
Olfr181 T A 16: 58,926,470 I34F possibly damaging Het
Osmr T C 15: 6,823,579 K611E probably damaging Het
Pcdh20 A G 14: 88,468,844 V340A possibly damaging Het
Pih1d3 A G 1: 31,223,096 D53G probably damaging Het
Plxna2 T A 1: 194,786,690 probably benign Het
Pou6f1 C T 15: 100,583,425 W210* probably null Het
Ppat A G 5: 76,915,232 Y511H probably damaging Het
Psme4 T G 11: 30,841,586 V1147G possibly damaging Het
Scap C T 9: 110,378,690 T489I probably benign Het
Sptb A G 12: 76,607,980 probably null Het
Tcl1b5 T A 12: 105,180,037 probably benign Het
Trim54 T A 5: 31,132,165 probably benign Het
Unc13c C T 9: 73,481,075 R2143Q probably damaging Het
Vmn1r56 A T 7: 5,196,114 V168D probably benign Het
Vmn2r66 A T 7: 85,006,590 M406K possibly damaging 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
IGL01793:D930020B18Rik APN 10 121671831 missense probably damaging 1.00
IGL01907:D930020B18Rik APN 10 121642010 missense probably damaging 0.97
IGL01981:D930020B18Rik APN 10 121692414 missense probably damaging 0.98
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 On2015-04-16