Incidental Mutation 'IGL02470:BB014433'
ID294701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BB014433
Ensembl Gene ENSMUSG00000049008
Gene Nameexpressed sequence BB014433
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL02470
Quality Score
Status
Chromosome8
Chromosomal Location15041444-15046078 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 15042803 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 17 (F17I)
Ref Sequence ENSEMBL: ENSMUSP00000137001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050493] [ENSMUST00000123331] [ENSMUST00000179941]
Predicted Effect unknown
Transcript: ENSMUST00000050493
AA Change: F17I
Predicted Effect unknown
Transcript: ENSMUST00000123331
AA Change: F17I
SMART Domains Protein: ENSMUSP00000116138
Gene: ENSMUSG00000049008
AA Change: F17I

DomainStartEndE-ValueType
internal_repeat_1 27 51 1.93e-5 PROSPERO
internal_repeat_2 31 59 5.9e-5 PROSPERO
internal_repeat_2 85 113 5.9e-5 PROSPERO
internal_repeat_1 95 117 1.93e-5 PROSPERO
Predicted Effect unknown
Transcript: ENSMUST00000179941
AA Change: F17I
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209938
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,615,222 M255K probably damaging Het
Adcy10 A G 1: 165,567,726 Y1422C probably damaging Het
Adnp T A 2: 168,183,194 K727I probably damaging Het
Akr1c21 A T 13: 4,577,407 N167Y probably damaging Het
Arl4a T C 12: 40,036,748 probably benign Het
Best1 T C 19: 9,992,976 S91G probably benign Het
Ccdc148 A T 2: 59,001,899 S235T probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dcc A T 18: 71,955,082 probably benign Het
Dnajc13 G A 9: 104,175,747 T1672I probably benign Het
Elf3 A T 1: 135,255,012 F325Y probably damaging Het
Enpp2 A G 15: 54,839,460 L880P probably damaging Het
Fndc3b A G 3: 27,461,720 Y646H probably damaging Het
Fzd6 A T 15: 39,036,557 probably benign Het
Gnb1 T A 4: 155,527,513 probably benign Het
Mast1 C A 8: 84,921,212 G511V probably damaging Het
Mcmbp T C 7: 128,704,621 I424M possibly damaging Het
Mobp A G 9: 120,168,006 T68A probably benign Het
Myh11 T C 16: 14,218,046 E1006G probably damaging Het
Ncstn A G 1: 172,082,599 probably null Het
Olfr1089 A T 2: 86,733,585 V9E probably damaging Het
Olfr340 A G 2: 36,452,597 D4G probably benign Het
Phip A T 9: 82,890,454 V1075D possibly damaging Het
Serpinb1a C T 13: 32,850,393 S5N probably damaging Het
Slc15a3 A G 19: 10,853,170 N295S probably benign Het
Trmt13 A C 3: 116,590,228 probably null Het
Trp63 A C 16: 25,820,384 probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in BB014433
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:BB014433 APN 8 15042510 missense probably benign 0.03
IGL01595:BB014433 APN 8 15042499 unclassified probably null
IGL02056:BB014433 APN 8 15042435 nonsense probably null
R0359:BB014433 UTSW 8 15042540 nonsense probably null
R1066:BB014433 UTSW 8 15042185 missense probably damaging 1.00
R1837:BB014433 UTSW 8 15042629 missense unknown
R1838:BB014433 UTSW 8 15042629 missense unknown
R2227:BB014433 UTSW 8 15041717 missense probably benign 0.34
R4508:BB014433 UTSW 8 15042095 missense possibly damaging 0.83
R4882:BB014433 UTSW 8 15042016 missense probably benign 0.05
R4996:BB014433 UTSW 8 15042166 missense probably benign 0.10
R5988:BB014433 UTSW 8 15041854 missense probably damaging 1.00
R6051:BB014433 UTSW 8 15042179 missense possibly damaging 0.83
R6483:BB014433 UTSW 8 15042208 missense probably benign 0.10
R6505:BB014433 UTSW 8 15042304 missense probably benign 0.10
R7237:BB014433 UTSW 8 15041765 missense probably benign 0.13
X0066:BB014433 UTSW 8 15042833 missense unknown
Posted On2015-04-16