Incidental Mutation 'IGL01377:A530064D06Rik'
ID78763
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A530064D06Rik
Ensembl Gene ENSMUSG00000043939
Gene NameRIKEN cDNA A530064D06 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01377
Quality Score
Status
Chromosome17
Chromosomal Location48151896-48167270 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 48152940 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 196 (V196D)
Ref Sequence ENSEMBL: ENSMUSP00000055935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027764] [ENSMUST00000053612]
Predicted Effect probably benign
Transcript: ENSMUST00000027764
AA Change: S135T

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027764
Gene: ENSMUSG00000043939
AA Change: S135T

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG 26 122 1.56e-5 SMART
low complexity region 144 158 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000053612
AA Change: V196D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000055935
Gene: ENSMUSG00000043939
AA Change: V196D

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG 26 122 1.56e-5 SMART
low complexity region 147 166 N/A INTRINSIC
transmembrane domain 191 213 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,973,452 probably null Het
Ago1 C T 4: 126,459,817 V279M probably damaging Het
Ccdc170 A G 10: 4,560,966 D675G probably damaging Het
Cdc42bpa T A 1: 180,065,143 Y291N probably damaging Het
Cdca5 T C 19: 6,090,282 S158P probably damaging Het
Cdh8 A G 8: 99,033,389 I576T probably damaging Het
Cpsf2 T A 12: 101,987,381 probably null Het
Cyc1 C T 15: 76,344,962 R143* probably null Het
Dcaf6 A T 1: 165,388,724 S437T probably benign Het
Eif5b A G 1: 38,036,098 D552G probably benign Het
Epor T C 9: 21,959,297 D429G probably damaging Het
Farp2 A G 1: 93,603,459 I560V possibly damaging Het
Fbxw21 T A 9: 109,146,645 R228* probably null Het
Fyb T C 15: 6,580,320 S125P probably benign Het
Gfm1 A T 3: 67,474,753 Y720F probably damaging Het
Hspbap1 T A 16: 35,825,311 D455E possibly damaging Het
Katnal2 T C 18: 77,002,457 R285G probably damaging Het
Kif12 G A 4: 63,170,725 T153I probably damaging Het
Klhl31 T C 9: 77,650,731 F243S probably benign Het
Large2 A G 2: 92,369,331 Y208H probably damaging Het
Lrp1b A G 2: 40,601,538 V239A probably damaging Het
Mblac2 G A 13: 81,750,147 R214H probably damaging Het
Mlf2 A G 6: 124,934,691 N168D probably damaging Het
Mtmr6 T A 14: 60,282,034 Y134* probably null Het
Mtus1 T C 8: 41,083,135 K515E possibly damaging Het
Nek1 A G 8: 61,089,456 T718A probably benign Het
Nfx1 A G 4: 40,977,241 N305S probably benign Het
Nrxn3 T A 12: 89,533,012 probably null Het
Nsf T C 11: 103,872,647 D377G probably damaging Het
Pde4b A G 4: 102,487,402 E102G probably damaging Het
Pdlim4 G T 11: 54,056,304 S56R probably benign Het
Poc5 T C 13: 96,401,631 V268A probably benign Het
Sec23b A C 2: 144,559,237 E6A probably damaging Het
Sgsm1 A T 5: 113,276,182 probably benign Het
Slc16a12 T A 19: 34,672,684 N317I possibly damaging Het
Slc1a7 A T 4: 107,992,965 D91V probably damaging Het
Slc30a9 T G 5: 67,315,830 S86A probably benign Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tacr1 T C 6: 82,403,655 S16P probably benign Het
Tmtc1 A C 6: 148,245,787 V804G possibly damaging Het
Ttc7b A G 12: 100,355,112 F587L probably benign Het
Vmn2r86 A T 10: 130,452,986 D215E probably damaging Het
Other mutations in A530064D06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01761:A530064D06Rik APN 17 48152959 missense possibly damaging 0.91
IGL02001:A530064D06Rik APN 17 48166674 missense possibly damaging 0.74
IGL02995:A530064D06Rik APN 17 48163288 missense probably benign 0.23
IGL03109:A530064D06Rik APN 17 48166460 missense probably benign 0.13
FR4340:A530064D06Rik UTSW 17 48163381 small deletion probably benign
FR4589:A530064D06Rik UTSW 17 48163381 small deletion probably benign
IGL02984:A530064D06Rik UTSW 17 48163280 missense probably benign 0.06
R0206:A530064D06Rik UTSW 17 48163318 missense probably benign 0.00
R0206:A530064D06Rik UTSW 17 48163318 missense probably benign 0.00
R0660:A530064D06Rik UTSW 17 48166591 missense probably benign 0.18
R0664:A530064D06Rik UTSW 17 48166591 missense probably benign 0.18
R0671:A530064D06Rik UTSW 17 48166656 missense probably benign 0.05
R1587:A530064D06Rik UTSW 17 48166417 missense probably benign 0.20
R4087:A530064D06Rik UTSW 17 48166510 missense probably damaging 0.96
R4089:A530064D06Rik UTSW 17 48166510 missense probably damaging 0.96
R4963:A530064D06Rik UTSW 17 48163414 missense probably benign 0.34
R5060:A530064D06Rik UTSW 17 48166939 missense probably damaging 1.00
R5083:A530064D06Rik UTSW 17 48166390 missense possibly damaging 0.86
R5219:A530064D06Rik UTSW 17 48163350 missense possibly damaging 0.70
R6175:A530064D06Rik UTSW 17 48152848 missense possibly damaging 0.91
R6189:A530064D06Rik UTSW 17 48167054 start gained probably benign
R6420:A530064D06Rik UTSW 17 48166398 missense probably damaging 1.00
R6439:A530064D06Rik UTSW 17 48166485 missense probably damaging 1.00
R7417:A530064D06Rik UTSW 17 48152889 missense probably damaging 1.00
Z1177:A530064D06Rik UTSW 17 48166506 missense probably damaging 1.00
Posted On2013-11-05