Incidental Mutation 'IGL01750:BC030867'
ID153120
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 #IGL01750
Quality Score
Status
Chromosome11
Chromosomal Location102248882-102265187 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 102254951 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100392] [ENSMUST00000133930]
Predicted Effect probably benign
Transcript: ENSMUST00000100392
SMART Domains Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773

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
SMART Domains Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 A G 7: 81,092,282 R616G probably damaging Het
Cacna1b G A 2: 24,654,395 P1260S probably damaging Het
Ccz1 A T 5: 144,004,062 Y225N probably damaging Het
Col15a1 C T 4: 47,303,897 P1101S probably damaging Het
Cyp2d22 T A 15: 82,374,369 H97L probably benign Het
Emsy G A 7: 98,619,301 S511F probably damaging Het
Fnbp1l G T 3: 122,544,677 Y351* probably null Het
Gm5263 T G 1: 146,420,564 noncoding transcript Het
Hook2 T C 8: 84,993,236 probably null Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Kmt2d G A 15: 98,853,168 probably benign Het
Lpin1 T C 12: 16,577,176 N123S probably benign Het
Man2c1 T C 9: 57,140,780 probably null Het
Obscn T C 11: 59,031,639 E6558G probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr531 T C 7: 140,400,657 T130A probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pcdh7 A G 5: 57,720,422 T440A probably damaging Het
Pitx1 A G 13: 55,826,491 Y176H probably damaging Het
Plec A G 15: 76,173,389 V4116A probably damaging Het
Polrmt A G 10: 79,739,846 V617A possibly damaging Het
Pprc1 T C 19: 46,071,829 probably benign Het
Rbm19 G A 5: 120,118,792 A57T probably benign Het
Rin1 T C 19: 5,052,036 I134T possibly damaging Het
Thumpd2 G A 17: 81,054,386 A137V probably benign Het
Tle4 T C 19: 14,449,789 Y756C probably damaging Het
Tln1 A G 4: 43,545,435 L986P probably damaging Het
Tmem132c C A 5: 127,462,959 Q350K possibly damaging Het
Zfp474 A G 18: 52,639,277 N334S 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
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
X0062:BC030867 UTSW 11 102255755 missense possibly damaging 0.89
X0065:BC030867 UTSW 11 102250727 missense probably damaging 1.00
Posted On2014-02-04