Incidental Mutation 'IGL02654:BC024978'
ID302265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC024978
Ensembl Gene ENSMUSG00000078786
Gene NamecDNA sequence BC024978
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.143) question?
Stock #IGL02654
Quality Score
Status
Chromosome7
Chromosomal Location27195781-27210186 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 27203873 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 289 (E289G)
Ref Sequence ENSEMBL: ENSMUSP00000104016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003850] [ENSMUST00000108379] [ENSMUST00000179391]
Predicted Effect probably benign
Transcript: ENSMUST00000003850
SMART Domains Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752

DomainStartEndE-ValueType
low complexity region 28 59 N/A INTRINSIC
low complexity region 346 363 N/A INTRINSIC
Pfam:IPK 462 673 3.7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108379
AA Change: E289G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786
AA Change: E289G

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
low complexity region 50 80 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116883
Predicted Effect probably benign
Transcript: ENSMUST00000123108
AA Change: E61G

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147170
Predicted Effect probably benign
Transcript: ENSMUST00000155931
SMART Domains Protein: ENSMUSP00000123290
Gene: ENSMUSG00000078786

DomainStartEndE-ValueType
low complexity region 14 44 N/A INTRINSIC
low complexity region 253 264 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179391
AA Change: E289G

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000137189
Gene: ENSMUSG00000078786
AA Change: E289G

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
low complexity region 50 80 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,927,826 I468T possibly damaging Het
Anxa13 A G 15: 58,342,001 noncoding transcript Het
Arhgef33 A G 17: 80,370,311 Y429C probably damaging Het
Bdh1 T C 16: 31,456,615 probably benign Het
C77080 C T 4: 129,222,319 G851R probably damaging Het
Dennd4a A G 9: 64,910,191 probably benign Het
Dld G T 12: 31,333,917 H396N probably benign Het
Dsg1b T C 18: 20,409,262 V942A probably damaging Het
Eln A T 5: 134,717,054 probably benign Het
Fat3 G A 9: 15,996,975 T2577M possibly damaging Het
Gad1 A T 2: 70,572,781 K73M possibly damaging Het
Gipc1 T C 8: 83,663,151 V253A probably damaging Het
Gm21671 T A 5: 25,953,207 H49L probably benign Het
Gtpbp10 A C 5: 5,543,372 probably benign Het
Hgf A T 5: 16,561,051 T62S probably benign Het
Hivep1 T C 13: 42,157,685 S1134P probably damaging Het
Hnrnpc A G 14: 52,084,117 L80S probably damaging Het
Kif20a G A 18: 34,632,023 R770H probably damaging Het
Lcat T C 8: 105,939,769 T374A possibly damaging Het
Mlana A G 19: 29,704,618 probably null Het
Nynrin A G 14: 55,863,259 I169V possibly damaging Het
Olfr697 A T 7: 106,741,348 Y195* probably null Het
P3h3 A G 6: 124,845,265 V585A possibly damaging Het
Pcdhb17 T A 18: 37,486,561 M468K probably benign Het
Prl8a2 T G 13: 27,352,797 I134S possibly damaging Het
Rev3l T C 10: 39,862,734 V2828A probably damaging Het
Rhbdd1 G T 1: 82,342,783 V163F probably benign Het
Rrp1 A G 10: 78,412,939 V5A probably benign Het
Sephs1 A T 2: 4,884,555 N48I probably benign Het
Vmn1r71 A G 7: 10,748,315 Y149H probably benign Het
Wiz T C 17: 32,359,350 D396G probably damaging Het
Xirp2 A G 2: 67,514,671 S2419G possibly damaging Het
Zfp128 A G 7: 12,884,679 T35A possibly damaging Het
Zmym2 T A 14: 56,911,315 F362Y probably damaging Het
Other mutations in BC024978
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03092:BC024978 APN 7 27201136 missense probably damaging 1.00
IGL03184:BC024978 APN 7 27197007 utr 5 prime probably benign
IGL03348:BC024978 APN 7 27197120 unclassified probably null
R0245:BC024978 UTSW 7 27200603 missense possibly damaging 0.92
R0650:BC024978 UTSW 7 27202647 missense probably damaging 1.00
R1522:BC024978 UTSW 7 27202680 missense probably damaging 1.00
R4731:BC024978 UTSW 7 27201043 missense probably damaging 1.00
R4732:BC024978 UTSW 7 27201043 missense probably damaging 1.00
R4733:BC024978 UTSW 7 27201043 missense probably damaging 1.00
R5502:BC024978 UTSW 7 27197117 missense possibly damaging 0.90
R6672:BC024978 UTSW 7 27204064 intron probably benign
R7190:BC024978 UTSW 7 27201123 missense probably damaging 1.00
R7191:BC024978 UTSW 7 27201123 missense probably damaging 1.00
R7299:BC024978 UTSW 7 27201123 missense probably damaging 1.00
R7300:BC024978 UTSW 7 27201123 missense probably damaging 1.00
X0003:BC024978 UTSW 7 27202491 missense probably benign 0.07
X0024:BC024978 UTSW 7 27201091 missense probably damaging 1.00
Posted On2015-04-16