Incidental Mutation 'IGL01769:BC030867'
ID278878
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: 0.208) question?
Stock #IGL01769
Quality Score
Status
Chromosome11
Chromosomal Location102248882-102265187 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102255596 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 233 (C233R)
Ref Sequence ENSEMBL: ENSMUSP00000137686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100392] [ENSMUST00000133930]
Predicted Effect probably benign
Transcript: ENSMUST00000100392
AA Change: C233R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773
AA Change: C233R

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: C233R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773
AA Change: C233R

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 131,357,486 M162L probably benign Het
Aldh1a1 A T 19: 20,642,919 T487S probably benign Het
Bahcc1 T C 11: 120,280,204 probably benign Het
Cldn10 G A 14: 118,873,717 probably benign Het
Cntn3 G A 6: 102,208,184 T657I probably damaging Het
Crb1 A T 1: 139,337,068 I204K probably damaging Het
Crim1 C A 17: 78,313,235 T368K probably benign Het
Csad C A 15: 102,180,081 V237L probably benign Het
Cyp39a1 T G 17: 43,749,915 H451Q possibly damaging Het
Dclk2 T C 3: 86,816,360 E376G possibly damaging Het
Dnah10 A T 5: 124,764,944 Y1331F possibly damaging Het
Dnajc11 A T 4: 151,979,302 I452L probably damaging Het
Dpf2 T C 19: 5,912,782 probably benign Het
Elovl2 A C 13: 41,186,944 V225G probably damaging Het
Fancd2 T A 6: 113,545,111 H222Q possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Flt4 C T 11: 49,635,171 probably benign Het
Foxp2 T C 6: 15,409,835 V478A possibly damaging Het
H2-Q1 G A 17: 35,323,529 V317M probably benign Het
Igkv3-5 G A 6: 70,663,352 probably benign Het
Isg20 G A 7: 78,914,381 C12Y probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Nat8f5 G A 6: 85,817,877 R34C probably benign Het
Olfr924 T C 9: 38,848,333 V73A probably benign Het
Pramel7 A G 2: 87,489,588 S454P probably benign Het
Rarb T A 14: 16,443,760 E176V probably damaging Het
Sema4a T A 3: 88,449,756 I303F possibly damaging Het
Slc25a24 G A 3: 109,149,500 E110K probably damaging Het
Slc7a13 A T 4: 19,839,527 I377L probably benign Het
Smim19 T C 8: 22,463,377 probably null Het
Tiam2 A G 17: 3,427,290 Y596C probably damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ubxn8 G A 8: 33,629,378 probably benign Het
Vmn2r108 C A 17: 20,471,018 M414I probably benign Het
Vmn2r99 A G 17: 19,380,115 N467S probably damaging Het
Zfp456 T A 13: 67,367,153 T145S probably benign 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
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
X0062:BC030867 UTSW 11 102255755 missense possibly damaging 0.89
X0065:BC030867 UTSW 11 102250727 missense probably damaging 1.00
Posted On2015-04-16