Incidental Mutation 'IGL02989:BC030867'
ID406844
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: 0.127) question?
Stock #IGL02989
Quality Score
Status
Chromosome11
Chromosomal Location102248882-102265187 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102255299 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 134 (I134V)
Ref Sequence ENSEMBL: ENSMUSP00000137686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100392] [ENSMUST00000133930]
Predicted Effect probably benign
Transcript: ENSMUST00000100392
AA Change: I134V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773
AA Change: I134V

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 probably benign
Transcript: ENSMUST00000133930
AA Change: I134V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773
AA Change: I134V

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 T A 19: 20,640,058 probably benign Het
Arhgap15 A G 2: 43,780,736 D44G probably damaging Het
Arhgap35 A T 7: 16,497,655 *1500R probably null Het
Arid1b A G 17: 5,335,047 Y1413C probably damaging Het
Atf6 A G 1: 170,788,683 probably benign Het
Cant1 T C 11: 118,411,212 Y93C probably damaging Het
Cat A G 2: 103,472,973 F153S probably damaging Het
Ccdc187 G A 2: 26,276,431 R712W possibly damaging Het
Clpb T C 7: 101,779,220 S396P probably damaging Het
Cntnap5a A G 1: 116,412,083 probably benign Het
Dap3 G A 3: 88,930,571 probably benign Het
Dnah6 T A 6: 73,069,420 D3195V probably damaging Het
Eprs T G 1: 185,418,366 F1355C probably benign Het
Faim2 A G 15: 99,520,362 probably benign Het
Fam208b A T 13: 3,584,820 H662Q probably benign Het
Fancg A G 4: 43,007,121 probably benign Het
Fbxo42 T A 4: 141,199,534 I375N probably damaging Het
Gabrr3 A T 16: 59,448,008 D328V probably damaging Het
Gm5849 T A 3: 90,777,800 D26V probably damaging Het
Gm6563 T C 19: 23,675,870 L8P possibly damaging Het
Gpld1 A G 13: 24,990,036 N815D possibly damaging Het
Idh2 T A 7: 80,099,108 I142F probably damaging Het
Kcnh7 A C 2: 62,721,925 N907K probably benign Het
Mcm3ap A G 10: 76,471,060 T336A possibly damaging Het
Olfr1211 A T 2: 88,929,704 S204T possibly damaging Het
Olfr1469 C A 19: 13,411,486 Q306K probably benign Het
Olfr556 T C 7: 102,670,444 S175P possibly damaging Het
Pilrb1 C A 5: 137,857,230 R133L possibly damaging Het
Pitpnm3 C A 11: 72,120,186 probably benign Het
Prkdc C T 16: 15,800,016 T3237I possibly damaging Het
Pspc1 A G 14: 56,771,696 probably benign Het
Rasgrp4 G A 7: 29,148,406 E414K probably damaging Het
Rgs12 T A 5: 34,965,119 L82Q probably damaging Het
Sh3gl3 T C 7: 82,273,879 V117A probably benign Het
Shisa5 G A 9: 109,055,994 A112T probably damaging Het
Tedc1 A G 12: 113,163,321 E401G probably benign Het
Tsc22d1 T C 14: 76,418,901 M940T probably benign Het
Vmn1r129 A T 7: 21,360,738 V185E probably damaging Het
Zfp982 C A 4: 147,512,595 D136E possibly damaging Het
Other mutations in BC030867
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:BC030867 APN 11 102255957 missense possibly damaging 0.95
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
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
X0062:BC030867 UTSW 11 102255755 missense possibly damaging 0.89
X0065:BC030867 UTSW 11 102250727 missense probably damaging 1.00
Posted On2016-08-02