Incidental Mutation 'IGL00309:BB014433'
ID332239
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: 0.064) question?
Stock #IGL00309
Quality Score
Status
Chromosome8
Chromosomal Location15041444-15046078 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 15042510 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 114 (N114K)
Ref Sequence ENSEMBL: ENSMUSP00000137001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050493] [ENSMUST00000123331] [ENSMUST00000179941]
Predicted Effect probably benign
Transcript: ENSMUST00000050493
AA Change: N114K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect unknown
Transcript: ENSMUST00000123331
AA Change: N114K
SMART Domains Protein: ENSMUSP00000116138
Gene: ENSMUSG00000049008
AA Change: N114K

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 probably benign
Transcript: ENSMUST00000179941
AA Change: N114K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,532,666 probably benign Het
Abca9 T A 11: 110,160,516 D118V probably benign Het
Adgrb2 T A 4: 130,018,805 I1241N probably damaging Het
Arsb A G 13: 93,790,100 D126G probably benign Het
Ccne2 T A 4: 11,199,322 V241E probably benign Het
Ccnjl A T 11: 43,583,196 K199N probably benign Het
Cyp2c55 A G 19: 39,011,746 T130A probably benign Het
Cyp2c70 A T 19: 40,156,826 N395K probably benign Het
Dst T C 1: 34,160,652 V67A probably damaging Het
Dysf G A 6: 84,108,099 R806H probably damaging Het
Extl3 G A 14: 65,076,989 P248L probably benign Het
Fcgbp A G 7: 28,085,130 D205G probably damaging Het
Gga1 G T 15: 78,883,355 V98L possibly damaging Het
Gpr6 C T 10: 41,070,816 A257T probably damaging Het
Mex3c C T 18: 73,589,889 T351M probably damaging Het
Olfr1019 A T 2: 85,841,362 V143D probably benign Het
Olfr1513 A G 14: 52,349,710 V112A probably benign Het
Olfr154 A T 2: 85,664,356 V26D probably benign Het
Olfr961 T A 9: 39,647,340 S205T probably benign Het
Prex1 A G 2: 166,609,823 Y412H probably damaging Het
Slc25a25 A T 2: 32,419,160 V75E probably benign Het
Sv2c A G 13: 96,048,429 C247R probably damaging Het
Trpm5 A T 7: 143,082,991 V403E probably benign Het
Wdr17 A G 8: 54,687,711 V202A probably damaging Het
Zscan25 A G 5: 145,283,749 E118G probably damaging Het
Other mutations in BB014433
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01595:BB014433 APN 8 15042499 unclassified probably null
IGL02056:BB014433 APN 8 15042435 nonsense probably null
IGL02470:BB014433 APN 8 15042803 missense unknown
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
R7771:BB014433 UTSW 8 15042395 missense probably damaging 1.00
R7847:BB014433 UTSW 8 15042160 small deletion probably benign
R7859:BB014433 UTSW 8 15042160 small deletion probably benign
X0066:BB014433 UTSW 8 15042833 missense unknown
Posted On2015-08-05