Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02965:Btd'

365528

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btd

Ensembl Gene

ENSMUSG00000021900

Gene Name

biotinidase

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

IGL02965

Quality Score

Status

Chromosome

Chromosomal Location

31363014-31390154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31389193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 305 (S305T)

Ref Sequence

ENSEMBL: ENSMUSP00000087608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090147]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000090147
AA Change: S305T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087608
Gene: ENSMUSG00000021900
AA Change: S305T

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:CN_hydrolase	63	287	3.9e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128014

Coding Region Coverage

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,071,439 (GRCm39)	K1471R	probably benign	Het
Add1	A	G	5: 34,777,467 (GRCm39)	S77G	probably damaging	Het
Atm	G	T	9: 53,364,863 (GRCm39)	N2642K	probably damaging	Het
Atp6v0a2	T	A	5: 124,767,267 (GRCm39)	M10K	possibly damaging	Het
Cmya5	C	T	13: 93,229,065 (GRCm39)	V2008I	probably benign	Het
Cpd	T	G	11: 76,681,814 (GRCm39)		probably benign	Het
Dis3l	A	G	9: 64,217,766 (GRCm39)	F772L	probably damaging	Het
Dlg5	A	T	14: 24,222,091 (GRCm39)	I517N	probably damaging	Het
Fig4	G	A	10: 41,161,661 (GRCm39)	T34M	probably damaging	Het
Flna	C	T	X: 73,270,816 (GRCm39)	V2235I	probably damaging	Het
Flot2	T	C	11: 77,950,031 (GRCm39)	I371T	possibly damaging	Het
Fsip2	G	A	2: 82,813,398 (GRCm39)	S3239N	probably benign	Het
Gbp3	A	G	3: 142,273,343 (GRCm39)	I297V	probably benign	Het
Gcnt3	T	C	9: 69,942,235 (GRCm39)	E111G	probably benign	Het
Gdi1	G	T	X: 73,351,331 (GRCm39)	A148S	probably benign	Het
Heatr5b	G	A	17: 79,060,502 (GRCm39)	H2058Y	probably benign	Het
Hsp90aa1	A	G	12: 110,662,113 (GRCm39)	M1T	probably null	Het
Il22b	A	G	10: 118,130,762 (GRCm39)	S45P	probably damaging	Het
Inppl1	C	A	7: 101,477,478 (GRCm39)	V715F	possibly damaging	Het
Kansl1	T	C	11: 104,225,991 (GRCm39)	Y975C	probably damaging	Het
Kif18b	A	G	11: 102,807,338 (GRCm39)		probably benign	Het
Krt40	T	A	11: 99,432,492 (GRCm39)	R175W	probably damaging	Het
Map3k19	T	C	1: 127,751,803 (GRCm39)	D516G	probably damaging	Het
Mfsd3	A	G	15: 76,587,352 (GRCm39)	H345R	probably benign	Het
Mlkl	A	T	8: 112,058,469 (GRCm39)	I162N	probably benign	Het
Mtnr1a	A	T	8: 45,522,419 (GRCm39)	N58I	probably damaging	Het
Nsmf	T	C	2: 24,951,774 (GRCm39)	V499A	probably damaging	Het
Nudt6	A	G	3: 37,473,655 (GRCm39)	L22P	probably damaging	Het
Nxf7	T	G	X: 134,490,159 (GRCm39)	E35A	probably damaging	Het
Or11h23	A	C	14: 50,948,653 (GRCm39)	I289L	probably damaging	Het
Paf1	T	C	7: 28,095,629 (GRCm39)		probably null	Het
Pcdhb11	G	T	18: 37,557,021 (GRCm39)	V784L	probably benign	Het
Pglyrp2	T	C	17: 32,637,560 (GRCm39)	D156G	probably benign	Het
Pnpt1	A	G	11: 29,106,939 (GRCm39)	D670G	probably damaging	Het
Polr1b	T	A	2: 128,967,443 (GRCm39)	H945Q	probably benign	Het
Ptk6	C	T	2: 180,840,861 (GRCm39)		probably benign	Het
Rftn1	C	T	17: 50,362,280 (GRCm39)	E273K	probably benign	Het
Rnf125	A	G	18: 21,116,168 (GRCm39)	I117V	probably benign	Het
Robo4	A	G	9: 37,321,765 (GRCm39)	K742R	possibly damaging	Het
Sez6l	T	C	5: 112,623,440 (GRCm39)	E37G	probably damaging	Het
Skint4	A	T	4: 111,993,218 (GRCm39)	I306L	probably benign	Het
Sntb1	A	T	15: 55,506,081 (GRCm39)	Y497*	probably null	Het
Snx27	C	A	3: 94,489,733 (GRCm39)	V42L	probably damaging	Het
Sorbs1	T	A	19: 40,365,187 (GRCm39)	T199S	probably benign	Het
Sorcs2	A	G	5: 36,235,301 (GRCm39)	Y72H	probably benign	Het
Spef2	G	T	15: 9,725,192 (GRCm39)		probably benign	Het
Sucla2	G	T	14: 73,816,871 (GRCm39)	V204L	probably benign	Het
Tescl	C	A	7: 24,033,098 (GRCm39)	V76F	probably damaging	Het
Tnxb	T	A	17: 34,928,628 (GRCm39)	Y2681N	possibly damaging	Het
Usp42	T	C	5: 143,713,769 (GRCm39)	T2A	probably damaging	Het
Vdac3-ps1	T	A	13: 18,205,431 (GRCm39)		noncoding transcript	Het
Wapl	T	A	14: 34,461,181 (GRCm39)		probably benign	Het

Other mutations in Btd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7021:Btd	UTSW	14	31,389,788 (GRCm39)	missense	probably benign
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

Posted On

2015-12-18