Mutagenetix > Incidental Mutation

Incidental Mutation 'R7837:Btd'

606067

Institutional Source

Beutler Lab

Gene Symbol

Btd

Ensembl Gene

ENSMUSG00000021900

Gene Name

biotinidase

Synonyms

MMRRC Submission

045891-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R7837 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31363014-31390154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31388784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 168 (S168R)

Ref Sequence

ENSEMBL: ENSMUSP00000087608 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090147
AA Change: S168R

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087608
Gene: ENSMUSG00000021900
AA Change: S168R

Domain	Start	End	E-Value	Type
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: 99.4%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,344,547 (GRCm39)	S108P	probably damaging	Het
Acox3	A	G	5: 35,768,830 (GRCm39)		probably null	Het
Adam22	T	A	5: 8,199,284 (GRCm39)		probably null	Het
Adgrb3	T	C	1: 25,167,915 (GRCm39)	Y1007C	probably damaging	Het
Anapc4	T	A	5: 53,016,550 (GRCm39)		probably null	Het
Aoc1	T	A	6: 48,882,584 (GRCm39)	Y153*	probably null	Het
Armc1	A	T	3: 19,198,633 (GRCm39)	I109N	probably benign	Het
Bcl2	A	C	1: 106,471,086 (GRCm39)	F207V	possibly damaging	Het
Cage1	A	T	13: 38,206,381 (GRCm39)	M488K	not run	Het
Cemip2	T	A	19: 21,775,385 (GRCm39)	D209E	probably benign	Het
Cenpj	T	C	14: 56,796,185 (GRCm39)	N224S	probably benign	Het
Cln6	T	C	9: 62,756,330 (GRCm39)	V81A		Het
Crispld1	T	A	1: 17,798,954 (GRCm39)	V25E	probably benign	Het
Dnah12	A	G	14: 26,518,176 (GRCm39)	T1808A	probably benign	Het
Dnm3	C	T	1: 161,819,619 (GRCm39)	R851H	possibly damaging	Het
Dtx3l	T	A	16: 35,751,896 (GRCm39)	N675I	probably damaging	Het
Dusp28	A	G	1: 92,835,405 (GRCm39)	E163G	probably benign	Het
Ecd	A	T	14: 20,383,400 (GRCm39)	F346L	probably damaging	Het
F5	G	A	1: 164,014,363 (GRCm39)	V545M	probably damaging	Het
Gm19410	A	T	8: 36,276,134 (GRCm39)	Y1597F	possibly damaging	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gria2	A	T	3: 80,618,095 (GRCm39)	N313K	probably benign	Het
Igkv13-84	C	T	6: 68,916,793 (GRCm39)	S30F	possibly damaging	Het
Kcnh6	C	A	11: 105,924,636 (GRCm39)	H867N	probably benign	Het
Krt82	T	C	15: 101,456,792 (GRCm39)	Q196R	possibly damaging	Het
Mbd4	T	C	6: 115,826,500 (GRCm39)	N164D	probably benign	Het
Mrgpra1	A	T	7: 46,985,076 (GRCm39)	M201K	possibly damaging	Het
Msh6	G	A	17: 88,292,094 (GRCm39)	G283E	probably damaging	Het
Msr1	C	T	8: 40,034,873 (GRCm39)	C426Y	probably damaging	Het
Muc5ac	A	G	7: 141,369,700 (GRCm39)	H3149R	possibly damaging	Het
Nr1i2	T	C	16: 38,074,146 (GRCm39)	M156V	probably benign	Het
Ogdhl	T	C	14: 32,068,415 (GRCm39)	V884A	possibly damaging	Het
Or13a21	T	C	7: 139,999,234 (GRCm39)	I151V	probably benign	Het
Or4c102	A	T	2: 88,422,723 (GRCm39)	I192F	possibly damaging	Het
Or4k15b	T	A	14: 50,272,033 (GRCm39)	T276S	probably damaging	Het
Or51ag1	A	T	7: 103,156,052 (GRCm39)	C34S	possibly damaging	Het
Pakap	A	G	4: 57,855,262 (GRCm39)	D197G	probably damaging	Het
Pcnx4	C	A	12: 72,602,892 (GRCm39)	L385M	probably damaging	Het
Pgap4	A	T	4: 49,586,262 (GRCm39)	M302K	probably damaging	Het
Plscr4	T	A	9: 92,366,976 (GRCm39)	C197S	probably damaging	Het
Rin3	A	G	12: 102,335,024 (GRCm39)	T312A	unknown	Het
Septin7	T	A	9: 25,199,531 (GRCm39)	N143K	possibly damaging	Het
Sgk2	A	G	2: 162,845,216 (GRCm39)	K208E	probably damaging	Het
Slc4a5	A	T	6: 83,238,539 (GRCm39)	T236S	probably benign	Het
Sptbn1	A	G	11: 30,088,832 (GRCm39)	L810P	probably damaging	Het
Stard9	A	G	2: 120,534,146 (GRCm39)	S3468G	probably benign	Het
Tarbp1	T	C	8: 127,201,300 (GRCm39)	S169G	probably benign	Het
Tex56	A	T	13: 35,128,359 (GRCm39)	Q192L	possibly damaging	Het
Tssk2	T	C	16: 17,716,615 (GRCm39)	V6A	possibly damaging	Het
Ttll4	A	T	1: 74,720,916 (GRCm39)		probably null	Het
Ubr4	C	T	4: 139,120,462 (GRCm39)	R296*	probably null	Het
Wscd2	G	T	5: 113,710,394 (GRCm39)	C306F	probably damaging	Het
Zbtb43	C	T	2: 33,343,981 (GRCm39)	G378R	probably damaging	Het
Zdhhc12	A	T	2: 29,981,709 (GRCm39)	V165E	probably damaging	Het
Zfp59	GAAA	GAAAAA	7: 27,554,342 (GRCm39)		probably null	Het
Zfp943	A	T	17: 22,211,346 (GRCm39)	Y144F	probably benign	Het
Zkscan8	T	A	13: 21,704,598 (GRCm39)	N447I	possibly damaging	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
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
R7021:Btd	UTSW	14	31,389,788 (GRCm39)	missense	probably benign
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'- TCACAGACCTATGAGAGCTGC -3'
(R):5'- AAGTGAACACGCCAAACTTG -3'

Sequencing Primer
(F):5'- CAGACCTATGAGAGCTGCTTACG -3'
(R):5'- CAAACTTGCCAGCAAAGGG -3'

Posted On

2019-12-20