Incidental Mutation 'IGL01901:BC117090'
ID179511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC117090
Ensembl Gene ENSMUSG00000079594
Gene NamecDNA sequence BC1179090
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.009) question?
Stock #IGL01901
Quality Score
Status
Chromosome16
Chromosomal Location36321665-36334332 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 36334263 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 11 (A11S)
Ref Sequence ENSEMBL: ENSMUSP00000110500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114850]
Predicted Effect probably damaging
Transcript: ENSMUST00000114850
AA Change: A11S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110500
Gene: ENSMUSG00000079594
AA Change: A11S

DomainStartEndE-ValueType
CY 1 96 3.09e-16 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A G 1: 26,682,584 F1172L probably benign Het
Adam2 A G 14: 66,035,229 probably benign Het
Aldh1a7 T G 19: 20,717,739 Y154S probably damaging Het
Casc3 A G 11: 98,823,121 D393G probably damaging Het
Cd180 A G 13: 102,706,428 I661V probably benign Het
Cdh1 T C 8: 106,657,760 S287P probably damaging Het
Clnk T C 5: 38,794,978 N6S probably damaging Het
Cyp17a1 C T 19: 46,671,092 V100M possibly damaging Het
Ddhd2 A G 8: 25,748,594 V53A probably damaging Het
Elovl7 T A 13: 108,274,393 probably null Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14180 A G 11: 99,734,227 S22P unknown Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Golga5 G A 12: 102,479,802 probably null Het
Gpr162 A T 6: 124,861,407 F93L possibly damaging Het
Kcnh8 G A 17: 52,894,120 probably benign Het
Lamp3 A T 16: 19,673,419 F358L probably damaging Het
Mdn1 T G 4: 32,669,591 D409E probably damaging Het
Ms4a10 T C 19: 10,963,010 D211G probably benign Het
Ms4a3 T C 19: 11,639,266 E4G possibly damaging Het
Myo15 A G 11: 60,527,434 probably benign Het
Olfr1257 A G 2: 89,881,482 I219V probably damaging Het
Olfr1448 T C 19: 12,919,583 H242R probably damaging Het
Olfr612 A T 7: 103,538,970 L88Q probably damaging Het
Olfr638 A G 7: 104,004,067 H264R probably damaging Het
Olfr698 A G 7: 106,752,545 V281A possibly damaging Het
Olfr815 A G 10: 129,901,853 F286L probably benign Het
Penk T C 4: 4,134,465 I61V probably benign Het
Pkhd1 T A 1: 20,220,083 K2860N probably benign Het
Prtg C T 9: 72,855,066 P492S probably damaging Het
Tdrd7 T C 4: 45,989,225 probably benign Het
Terf2ip A G 8: 112,012,068 N196S probably benign Het
Tgtp1 T C 11: 48,987,555 N108D possibly damaging Het
Thumpd3 A G 6: 113,059,971 H277R probably benign Het
Tshz2 T A 2: 169,885,536 L215Q possibly damaging Het
Ube3c T A 5: 29,668,007 V1015E probably damaging Het
Utrn T A 10: 12,640,928 K2307N probably damaging Het
Vmn1r75 A G 7: 11,880,812 Y157C probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in BC117090
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02321:BC117090 APN 16 36323026 splice site probably benign
R0200:BC117090 UTSW 16 36323024 critical splice acceptor site probably null
R0564:BC117090 UTSW 16 36322984 nonsense probably null
R0608:BC117090 UTSW 16 36323024 critical splice acceptor site probably null
R1867:BC117090 UTSW 16 36321786 missense possibly damaging 0.73
R1987:BC117090 UTSW 16 36321832 missense probably damaging 1.00
R4947:BC117090 UTSW 16 36321765 missense probably damaging 1.00
R5283:BC117090 UTSW 16 36321843 missense probably damaging 0.99
Posted On2014-05-07