Incidental Mutation 'IGL03053:Cbwd1'
ID409131
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbwd1
Ensembl Gene ENSMUSG00000024878
Gene NameCOBW domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #IGL03053
Quality Score
Status
Chromosome19
Chromosomal Location24919916-24961616 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 24955377 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 97 (E97D)
Ref Sequence ENSEMBL: ENSMUSP00000025815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025815]
Predicted Effect probably damaging
Transcript: ENSMUST00000025815
AA Change: E97D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025815
Gene: ENSMUSG00000024878
AA Change: E97D

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
Pfam:cobW 41 229 7.1e-51 PFAM
CobW_C 271 374 5.34e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 G A 4: 106,755,853 Q342* probably null Het
Arglu1 T A 8: 8,683,960 I119L probably benign Het
Atp1a2 G A 1: 172,278,356 T914I probably damaging Het
Birc6 C T 17: 74,565,972 R409C probably damaging Het
Brwd1 A T 16: 96,017,677 S1318R possibly damaging Het
C1qtnf12 A T 4: 155,966,464 N297Y probably damaging Het
Cyp2a4 A T 7: 26,313,550 probably benign Het
Cyp2j7 C T 4: 96,230,037 M106I probably benign Het
Dis3 A G 14: 99,098,734 V112A probably benign Het
Ehd3 A G 17: 73,805,442 Y67C probably damaging Het
Elavl4 A T 4: 110,251,494 S16T possibly damaging Het
F2rl1 A C 13: 95,513,618 V252G probably benign Het
Fggy A T 4: 95,926,809 probably benign Het
Hc G T 2: 35,024,198 N832K probably benign Het
Hnf1a T A 5: 114,970,733 M38L probably benign Het
Kif13a T C 13: 46,752,088 N793S probably benign Het
Kit A G 5: 75,610,914 N244D probably benign Het
Mb21d1 A T 9: 78,437,437 F234Y probably benign Het
Mgat5b A G 11: 116,923,450 E60G possibly damaging Het
Obsl1 T C 1: 75,493,079 H1098R probably benign Het
Olfr1094 A G 2: 86,829,263 I170M possibly damaging Het
Olfr1178 A G 2: 88,391,594 M116V probably damaging Het
Olfr1230 A C 2: 89,296,445 I275S probably damaging Het
Olfr138 A C 17: 38,274,791 S7R probably damaging Het
Olfr166 A T 16: 19,487,219 H127L probably benign Het
Olfr198 A G 16: 59,202,247 Y60H probably damaging Het
Olfr215 T C 6: 116,582,245 R234G possibly damaging Het
Pitpnm2 A G 5: 124,143,601 I42T probably damaging Het
Prkd2 A G 7: 16,850,263 D347G possibly damaging Het
Prkdc A G 16: 15,834,166 I3806V probably benign Het
Rasgrp2 T C 19: 6,407,332 probably benign Het
Rc3h1 T A 1: 160,955,817 D734E probably benign Het
Rtel1 A G 2: 181,351,944 K619E probably benign Het
Tnfrsf26 T C 7: 143,614,860 D147G possibly damaging Het
Ufl1 A G 4: 25,275,833 I110T probably damaging Het
Ugt2b36 A G 5: 87,092,074 S151P possibly damaging Het
Vmn2r25 T C 6: 123,823,118 Y755C probably damaging Het
Zfhx3 T C 8: 108,946,500 V1394A probably damaging Het
Zzef1 G T 11: 72,831,539 probably benign Het
Other mutations in Cbwd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00720:Cbwd1 APN 19 24921131 missense probably benign 0.01
IGL01618:Cbwd1 APN 19 24940776 missense possibly damaging 0.83
IGL02351:Cbwd1 APN 19 24931662 critical splice donor site probably null
IGL02358:Cbwd1 APN 19 24931662 critical splice donor site probably null
IGL02628:Cbwd1 APN 19 24957905 missense probably damaging 1.00
IGL03001:Cbwd1 APN 19 24922638 missense probably benign 0.01
IGL03409:Cbwd1 APN 19 24922766 missense probably benign 0.01
R0544:Cbwd1 UTSW 19 24949211 missense possibly damaging 0.79
R0655:Cbwd1 UTSW 19 24953320 missense possibly damaging 0.90
R0833:Cbwd1 UTSW 19 24940839 splice site probably benign
R1296:Cbwd1 UTSW 19 24942675 splice site probably benign
R1723:Cbwd1 UTSW 19 24948094 missense possibly damaging 0.89
R1888:Cbwd1 UTSW 19 24955405 missense probably damaging 1.00
R1888:Cbwd1 UTSW 19 24955405 missense probably damaging 1.00
R4526:Cbwd1 UTSW 19 24957964 missense probably benign 0.20
R5092:Cbwd1 UTSW 19 24921019 critical splice donor site probably null
R5238:Cbwd1 UTSW 19 24920630 missense probably damaging 0.99
R5852:Cbwd1 UTSW 19 24955405 missense possibly damaging 0.89
R7248:Cbwd1 UTSW 19 24921141 missense probably damaging 0.99
R7699:Cbwd1 UTSW 19 24942681 critical splice donor site probably null
R7700:Cbwd1 UTSW 19 24942681 critical splice donor site probably null
R7733:Cbwd1 UTSW 19 24940794 missense probably damaging 1.00
R8363:Cbwd1 UTSW 19 24942727 missense probably benign 0.01
Posted On2016-08-02