Incidental Mutation 'IGL00485:BC030867'
ID6016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC030867
Ensembl Gene ENSMUSG00000034773
Gene NamecDNA sequence BC030867
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.167) question?
Stock #IGL00485
Quality Score
Status
Chromosome11
Chromosomal Location102248882-102265187 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 102255957 bp
ZygosityHeterozygous
Amino Acid Change Serine to Phenylalanine at position 353 (S353F)
Ref Sequence ENSEMBL: ENSMUSP00000137686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100392] [ENSMUST00000133930]
Predicted Effect possibly damaging
Transcript: ENSMUST00000100392
AA Change: S353F

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773
AA Change: S353F

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
low complexity region 100 108 N/A INTRINSIC
low complexity region 302 317 N/A INTRINSIC
Pfam:DUF4539 458 541 4.4e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000133930
AA Change: S353F

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773
AA Change: S353F

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
low complexity region 100 108 N/A INTRINSIC
low complexity region 302 317 N/A INTRINSIC
Pfam:DUF4539 457 542 3.2e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152897
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,492,671 probably benign Het
Arhgef37 G A 18: 61,523,871 T41I probably damaging Het
Brms1 A C 19: 5,049,042 probably benign Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Col4a2 A G 8: 11,439,012 M1133V probably benign Het
Ctps T C 4: 120,552,944 Y314C probably damaging Het
Defa30 T A 8: 21,135,451 M77K probably benign Het
E330017A01Rik A G 16: 58,635,491 Y140H probably damaging Het
Eif3a T C 19: 60,769,890 R817G unknown Het
Fam189a2 G A 19: 23,984,722 R306W probably damaging Het
Gm13119 G A 4: 144,363,442 V351I probably damaging Het
Greb1l A G 18: 10,555,962 S1725G possibly damaging Het
Hmgxb4 T C 8: 75,029,503 S545P probably damaging Het
Kif13b A G 14: 64,765,073 E1049G possibly damaging Het
Mug1 T C 6: 121,887,416 V1424A probably benign Het
Nlrp2 A G 7: 5,337,548 V89A probably benign Het
Osbpl11 T G 16: 33,241,745 W741G probably damaging Het
Pam A G 1: 97,822,953 V914A possibly damaging Het
Phldb2 T A 16: 45,757,188 I1117F possibly damaging Het
Pign A T 1: 105,597,723 L460* probably null Het
Prdm10 A T 9: 31,327,546 I196F possibly damaging Het
Stk36 T C 1: 74,634,085 S1044P probably benign Het
Trim43b T C 9: 89,091,642 T13A probably benign Het
Unc5b T C 10: 60,783,216 Y49C possibly damaging Het
Urb2 T C 8: 124,028,694 I380T probably damaging Het
Zfyve27 T A 19: 42,183,433 C229S probably benign Het
Other mutations in BC030867
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01645:BC030867 APN 11 102255186 missense probably damaging 1.00
IGL01750:BC030867 APN 11 102254951 splice site probably benign
IGL01759:BC030867 APN 11 102255596 missense probably benign
IGL01760:BC030867 APN 11 102255596 missense probably benign
IGL01761:BC030867 APN 11 102255596 missense probably benign
IGL01762:BC030867 APN 11 102255596 missense probably benign
IGL01764:BC030867 APN 11 102255596 missense probably benign
IGL01769:BC030867 APN 11 102255596 missense probably benign
IGL01778:BC030867 APN 11 102255596 missense probably benign
IGL02156:BC030867 APN 11 102255039 missense probably damaging 1.00
IGL02159:BC030867 APN 11 102260165 critical splice donor site probably null
IGL02284:BC030867 APN 11 102255596 missense probably benign
IGL02522:BC030867 APN 11 102257920 missense possibly damaging 0.94
IGL02989:BC030867 APN 11 102255299 missense probably benign 0.00
R2376:BC030867 UTSW 11 102250716 missense probably benign 0.05
R2504:BC030867 UTSW 11 102255296 missense possibly damaging 0.48
R3731:BC030867 UTSW 11 102257906 missense possibly damaging 0.95
R5566:BC030867 UTSW 11 102255833 missense probably damaging 0.99
R5774:BC030867 UTSW 11 102255669 missense possibly damaging 0.82
R5864:BC030867 UTSW 11 102255146 missense probably benign 0.00
R6013:BC030867 UTSW 11 102255033 missense probably benign 0.00
R6250:BC030867 UTSW 11 102255062 missense probably benign
R7264:BC030867 UTSW 11 102255596 missense probably benign 0.00
R8013:BC030867 UTSW 11 102257899 missense probably benign 0.02
R8014:BC030867 UTSW 11 102257899 missense probably benign 0.02
R8266:BC030867 UTSW 11 102262220 missense possibly damaging 0.94
X0062:BC030867 UTSW 11 102255755 missense possibly damaging 0.89
X0065:BC030867 UTSW 11 102250727 missense probably damaging 1.00
Posted On2012-04-20