Incidental Mutation 'R7021:Btd'
ID 545650
Institutional Source Beutler Lab
Gene Symbol Btd
Ensembl Gene ENSMUSG00000021900
Gene Name biotinidase
Synonyms
MMRRC Submission 045122-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R7021 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 31363014-31390154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31389788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 503 (D503G)
Ref Sequence ENSEMBL: ENSMUSP00000087608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090147]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000090147
AA Change: D503G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087608
Gene: ENSMUSG00000021900
AA Change: D503G

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:CN_hydrolase 63 287 3.9e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (75/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit behavioral/neurological defects, weakness, bone loss, weight loss, and alopecia when fed a biotin-deprived diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A C 4: 144,442,062 (GRCm39) L63R probably damaging Het
Abcb5 C T 12: 118,895,660 (GRCm39) V379I probably benign Het
Adamts15 T C 9: 30,832,776 (GRCm39) Y253C probably damaging Het
Ahsa1 T C 12: 87,318,154 (GRCm39) S37P possibly damaging Het
Arnt2 A T 7: 83,993,150 (GRCm39) L130H probably damaging Het
Atp8b5 T A 4: 43,355,618 (GRCm39) F533I probably damaging Het
Best1 A G 19: 9,964,143 (GRCm39) V439A probably benign Het
Bicc1 A G 10: 70,796,978 (GRCm39) V127A probably damaging Het
Brd7 T C 8: 89,073,632 (GRCm39) T253A probably benign Het
Ccdc80 A G 16: 44,924,804 (GRCm39) E646G probably damaging Het
Ccl25 A G 8: 4,399,641 (GRCm39) probably benign Het
Ccnf C A 17: 24,461,205 (GRCm39) W150L probably damaging Het
Cdk11b A T 4: 155,726,024 (GRCm39) probably benign Het
Cfap73 T C 5: 120,768,149 (GRCm39) E203G probably benign Het
Cmya5 T C 13: 93,230,063 (GRCm39) E1675G possibly damaging Het
Copg1 T A 6: 87,871,087 (GRCm39) Y268N possibly damaging Het
Csnk2a1 T A 2: 152,102,732 (GRCm39) H126Q probably damaging Het
Ctbs G A 3: 146,160,703 (GRCm39) G90D probably damaging Het
Ctnna2 T C 6: 77,613,888 (GRCm39) Y221C probably damaging Het
Cypt12 C T 3: 18,002,635 (GRCm39) R3C unknown Het
D630003M21Rik A T 2: 158,058,670 (GRCm39) M410K possibly damaging Het
Dnah9 A T 11: 65,872,057 (GRCm39) N2724K probably benign Het
Dok3 T C 13: 55,672,097 (GRCm39) T194A probably benign Het
Edem3 T G 1: 151,631,423 (GRCm39) S36A probably benign Het
Eed C T 7: 89,629,727 (GRCm39) E3K possibly damaging Het
Efcab2 A G 1: 178,308,925 (GRCm39) I143V probably benign Het
Ensa A T 3: 95,534,359 (GRCm39) probably null Het
Galnt16 A T 12: 80,626,826 (GRCm39) E219V probably damaging Het
Gfra3 C A 18: 34,823,933 (GRCm39) R347L probably benign Het
Gm2042 T A 12: 87,927,009 (GRCm39) I442K probably damaging Het
Gpld1 A T 13: 25,168,691 (GRCm39) D735V probably damaging Het
Hspg2 T C 4: 137,269,580 (GRCm39) S2253P possibly damaging Het
Kit T C 5: 75,781,627 (GRCm39) I352T probably benign Het
Klra6 A T 6: 129,995,821 (GRCm39) V179E possibly damaging Het
Lctl T A 9: 64,040,075 (GRCm39) probably null Het
Lman1 C A 18: 66,124,714 (GRCm39) V342L probably benign Het
Lrrn2 T C 1: 132,866,522 (GRCm39) L529P probably damaging Het
Mab21l2 A G 3: 86,454,793 (GRCm39) I69T probably benign Het
Mapkapk5 G T 5: 121,665,274 (GRCm39) A327E probably benign Het
Mex3b G T 7: 82,519,080 (GRCm39) R465L possibly damaging Het
Mgat3 A G 15: 80,096,655 (GRCm39) N494S probably damaging Het
Mgat4c A G 10: 102,224,289 (GRCm39) R168G possibly damaging Het
Mkks A G 2: 136,718,007 (GRCm39) probably null Het
Muc16 G T 9: 18,466,215 (GRCm39) H7368N unknown Het
Muc16 T C 9: 18,462,127 (GRCm39) probably null Het
Nbeal1 G A 1: 60,300,745 (GRCm39) probably null Het
Notch2 T C 3: 98,042,762 (GRCm39) S1376P probably benign Het
Obox5 A G 7: 15,491,681 (GRCm39) probably null Het
Or10j5 T C 1: 172,784,494 (GRCm39) I44T probably benign Het
Or6c8b A T 10: 128,882,899 (GRCm39) I11N probably damaging Het
Pbrm1 A G 14: 30,789,773 (GRCm39) I807V probably damaging Het
Pitrm1 T A 13: 6,628,593 (GRCm39) V962E probably damaging Het
Pkd2l1 T C 19: 44,142,647 (GRCm39) Q465R probably damaging Het
Pla1a A G 16: 38,221,244 (GRCm39) I372T probably damaging Het
Prmt5 A C 14: 54,752,845 (GRCm39) F122C probably damaging Het
Prrc2b T A 2: 32,111,498 (GRCm39) S1905T probably damaging Het
Ptprf T G 4: 118,081,101 (GRCm39) K1163N probably benign Het
Rab3ip A G 10: 116,775,283 (GRCm39) V25A probably damaging Het
Raf1 T C 6: 115,597,300 (GRCm39) probably null Het
Rnf180 T C 13: 105,407,429 (GRCm39) E40G probably benign Het
Rpl6 T A 5: 121,346,972 (GRCm39) M289K probably benign Het
Slc25a32 A G 15: 38,963,321 (GRCm39) F167L probably benign Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Slc4a4 T A 5: 89,188,205 (GRCm39) probably null Het
Sppl2a A G 2: 126,769,663 (GRCm39) probably null Het
Tbr1 T A 2: 61,637,688 (GRCm39) D82E probably benign Het
Tbx10 A T 19: 4,048,961 (GRCm39) T291S probably benign Het
Tlr1 T A 5: 65,083,056 (GRCm39) H507L possibly damaging Het
Trim37 A C 11: 87,058,335 (GRCm39) T338P probably benign Het
Trpv5 T C 6: 41,630,204 (GRCm39) T629A probably benign Het
Ttc14 T A 3: 33,857,646 (GRCm39) I249N probably damaging Het
Uhrf1 A G 17: 56,627,450 (GRCm39) T661A probably benign Het
Vmn2r65 A G 7: 84,596,587 (GRCm39) I156T probably benign Het
Vwde T C 6: 13,186,905 (GRCm39) N861D probably damaging Het
Zan A G 5: 137,422,213 (GRCm39) C2802R unknown Het
Other mutations in Btd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01125:Btd APN 14 31,389,733 (GRCm39) missense probably benign 0.00
IGL02728:Btd APN 14 31,389,319 (GRCm39) missense probably benign 0.00
IGL02965:Btd APN 14 31,389,193 (GRCm39) missense probably damaging 1.00
R1503:Btd UTSW 14 31,389,612 (GRCm39) missense probably damaging 1.00
R1662:Btd UTSW 14 31,388,747 (GRCm39) missense probably damaging 1.00
R1817:Btd UTSW 14 31,384,246 (GRCm39) missense possibly damaging 0.95
R1868:Btd UTSW 14 31,389,266 (GRCm39) missense probably benign 0.13
R2225:Btd UTSW 14 31,389,017 (GRCm39) missense probably benign 0.00
R2418:Btd UTSW 14 31,363,093 (GRCm39) critical splice donor site probably null
R4660:Btd UTSW 14 31,389,760 (GRCm39) missense probably benign 0.00
R4727:Btd UTSW 14 31,384,278 (GRCm39) missense probably benign 0.01
R4923:Btd UTSW 14 31,384,044 (GRCm39) missense possibly damaging 0.92
R5703:Btd UTSW 14 31,389,004 (GRCm39) nonsense probably null
R5806:Btd UTSW 14 31,389,469 (GRCm39) missense probably benign
R6110:Btd UTSW 14 31,363,065 (GRCm39) unclassified probably benign
R6119:Btd UTSW 14 31,363,065 (GRCm39) unclassified probably benign
R6120:Btd UTSW 14 31,363,065 (GRCm39) unclassified probably benign
R7019:Btd UTSW 14 31,389,063 (GRCm39) missense possibly damaging 0.88
R7019:Btd UTSW 14 31,389,062 (GRCm39) missense probably damaging 1.00
R7837:Btd UTSW 14 31,388,784 (GRCm39) missense possibly damaging 0.90
R8176:Btd UTSW 14 31,384,073 (GRCm39) missense probably benign 0.14
R8249:Btd UTSW 14 31,387,905 (GRCm39) missense probably damaging 1.00
R8516:Btd UTSW 14 31,388,824 (GRCm39) missense probably damaging 1.00
R9098:Btd UTSW 14 31,384,233 (GRCm39) missense probably benign 0.00
R9465:Btd UTSW 14 31,389,643 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACCTGTGCCCTGGTTAAGTG -3'
(R):5'- GTGGCCTGACAGACTAAAGTG -3'

Sequencing Primer
(F):5'- CCCTGGTTAAGTGCGGGG -3'
(R):5'- TCTCAGTCATTATGTAGAAAGGAAGG -3'
Posted On 2019-05-13