Incidental Mutation 'IGL01645:BC030867'
ID102607
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 #IGL01645
Quality Score
Status
Chromosome11
Chromosomal Location102248882-102265187 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102255186 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 96 (L96P)
Ref Sequence ENSEMBL: ENSMUSP00000137686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100392] [ENSMUST00000133930]
Predicted Effect probably damaging
Transcript: ENSMUST00000100392
AA Change: L96P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773
AA Change: L96P

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 damaging
Transcript: ENSMUST00000133930
AA Change: L96P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773
AA Change: L96P

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T C 14: 49,773,554 E232G probably damaging Het
Abcc8 C T 7: 46,115,053 C1156Y possibly damaging Het
Armc4 T C 18: 7,268,491 S343G probably benign Het
Atp8b1 G A 18: 64,546,113 H766Y probably benign Het
Cacna2d1 C A 5: 16,012,391 probably null Het
Card11 T A 5: 140,878,023 T987S probably benign Het
Dmxl2 A T 9: 54,378,733 Y2723N possibly damaging Het
Dnah11 T A 12: 118,186,998 I342F possibly damaging Het
Dnajc10 A G 2: 80,340,527 H454R possibly damaging Het
Dpy19l3 T C 7: 35,695,338 T592A probably benign Het
Eea1 T A 10: 95,989,589 S49T probably damaging Het
Esd T A 14: 74,749,719 N294K probably benign Het
Fmo3 A G 1: 162,964,006 V234A possibly damaging Het
Folh1 A G 7: 86,742,227 F420L probably damaging Het
Gabra1 T C 11: 42,135,562 N301S probably damaging Het
Gm5422 A T 10: 31,250,073 noncoding transcript Het
Gorab A T 1: 163,386,431 L310Q possibly damaging Het
Gsdme A G 6: 50,251,336 Y51H probably damaging Het
Itpr1 T C 6: 108,473,599 I1964T possibly damaging Het
Lmbr1 A G 5: 29,235,055 L410P probably damaging Het
Lrrc37a T C 11: 103,504,264 R112G probably benign Het
Mrgpra6 T C 7: 47,185,933 T247A probably benign Het
Mroh4 A G 15: 74,611,358 probably benign Het
Mycbpap T C 11: 94,503,467 probably null Het
Myoz2 T A 3: 123,034,232 K12N probably damaging Het
Olfr412 T C 11: 74,365,533 I288T possibly damaging Het
P3h1 T G 4: 119,236,783 F212V probably damaging Het
Pcnx2 T C 8: 125,887,917 D265G probably damaging Het
Pkd1l3 C T 8: 109,635,302 T992I possibly damaging Het
Prss58 T C 6: 40,897,310 D144G probably damaging Het
Pth2 T A 7: 45,181,340 L29Q possibly damaging Het
Rab1b A C 19: 5,104,934 probably benign Het
Rasa2 A T 9: 96,582,781 C190* probably null Het
Scn9a T C 2: 66,487,642 K1501E possibly damaging Het
Selenoi A G 5: 30,257,823 probably benign Het
Slc11a2 T C 15: 100,389,118 N558S probably benign Het
Sox10 T C 15: 79,156,339 I173V probably benign Het
Sra1 A C 18: 36,671,473 F476C probably damaging Het
St5 T A 7: 109,527,634 K540* probably null Het
Tmem119 T A 5: 113,795,348 K131* probably null Het
Trim12c T A 7: 104,345,054 K198* probably null Het
Ttn A G 2: 76,851,560 probably benign Het
Unc119b C T 5: 115,127,312 V154I probably benign Het
Usp47 T A 7: 112,054,862 S108R probably damaging Het
Vmn1r15 T A 6: 57,258,562 C138* probably null Het
Vmn1r191 T C 13: 22,179,444 I47V probably benign Het
Wnt3 C T 11: 103,812,378 A229V probably benign Het
Other mutations in BC030867
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:BC030867 APN 11 102255957 missense possibly damaging 0.95
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 On2014-01-21