Mutagenetix > Incidental Mutations

Incidental Mutation 'R7019:Btd'

545526

Institutional Source

Beutler Lab

Gene Symbol

Btd

Ensembl Gene

ENSMUSG00000021900

Gene Name

biotinidase

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R7019 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31641028-31668579 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 31667105 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 261 (Q261P)

Ref Sequence

ENSEMBL: ENSMUSP00000087608 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000090147
AA Change: Q261P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087608
Gene: ENSMUSG00000021900
AA Change: Q261P

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	T	16: 8,618,531	K414*	probably null	Het
Aco1	T	A	4: 40,186,376	I596N	probably damaging	Het
Adgre1	A	C	17: 57,410,945	D319A	probably damaging	Het
BC067074	C	T	13: 113,351,750	T102I	probably benign	Het
Birc6	T	C	17: 74,609,345	V445A	probably benign	Het
C7	T	A	15: 5,045,682	Y176F	probably benign	Het
Ccdc102a	T	C	8: 94,909,803	S287G	probably benign	Het
Ccdc178	T	A	18: 22,150,438	T12S	probably benign	Het
Cnga4	G	T	7: 105,405,829	A104S	probably benign	Het
Col10a1	G	T	10: 34,394,951	L306F	probably damaging	Het
Cpne5	T	C	17: 29,226,222	D36G	probably damaging	Het
Csmd2	G	A	4: 128,369,063	D681N		Het
Cstl1	A	G	2: 148,755,303	M75V	probably benign	Het
Cyp26a1	T	C	19: 37,698,812	L149P	probably damaging	Het
D630045J12Rik	T	G	6: 38,194,635	E866A	probably benign	Het
Dlec1	C	T	9: 119,112,422	P292L	probably benign	Het
Dpp3	T	G	19: 4,916,789	E402A	possibly damaging	Het
Egf	T	C	3: 129,718,064		probably null	Het
Epha5	T	C	5: 84,416,462	Q15R	possibly damaging	Het
Esyt3	A	G	9: 99,315,285	F831L	probably benign	Het
Fam50b	G	A	13: 34,747,101	E187K	possibly damaging	Het
Fut7	A	G	2: 25,425,780	D350G	probably benign	Het
Gab1	C	A	8: 80,784,817	E466D	probably damaging	Het
Glrp1	A	T	1: 88,503,168	M160K	unknown	Het
Gngt1	T	C	6: 3,994,088		probably null	Het
Gprc6a	A	T	10: 51,631,412	V7E	possibly damaging	Het
Idh3b	A	T	2: 130,280,966	V301D	probably damaging	Het
Ifi202b	A	C	1: 173,963,958	C385G	probably benign	Het
Ilvbl	T	A	10: 78,579,086	L261Q	probably damaging	Het
Irx6	T	A	8: 92,678,734	L410Q	probably damaging	Het
Ism2	T	C	12: 87,299,663	M15V	unknown	Het
Itih5	C	A	2: 10,190,327	R177S	probably damaging	Het
Klra3	C	T	6: 130,327,124	G202R	probably damaging	Het
Krt7	T	C	15: 101,413,970	V103A	probably damaging	Het
Lama3	T	C	18: 12,528,418	S2145P	probably damaging	Het
Mlph	A	G	1: 90,941,706	R477G	probably damaging	Het
Mybpc1	T	A	10: 88,543,719	L653F	probably damaging	Het
Myrfl	A	G	10: 116,781,947		probably null	Het
Myrip	T	G	9: 120,422,507	L232R	probably damaging	Het
Nrd1	A	T	4: 109,028,802	H126L	probably benign	Het
Olfr251	T	A	9: 38,378,802	L307Q	possibly damaging	Het
Olfr469	G	T	7: 107,823,158	L104I	probably benign	Het
Olfr722	A	T	14: 49,895,667	I45N	probably damaging	Het
Pcdhb10	T	A	18: 37,413,003	N377K	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Prkdc	A	C	16: 15,769,966	I2572L	probably benign	Het
Ptpro	C	A	6: 137,380,478	D322E	probably benign	Het
R3hcc1	A	G	14: 69,704,125	I332T	probably damaging	Het
Rab8a	T	C	8: 72,161,383	F9L	probably damaging	Het
Ranbp3l	A	T	15: 9,057,160	K165N	probably damaging	Het
Rock2	T	A	12: 16,977,740	C1353S	probably damaging	Het
Rsad2	T	A	12: 26,456,419	M1L	possibly damaging	Het
Tymp	A	T	15: 89,376,281		probably null	Het
Vmn1r104	A	G	7: 20,534,566	M244V	probably benign	Het
Vmn1r232	G	A	17: 20,913,285	T351M	possibly damaging	Het
Vmn2r50	A	G	7: 10,050,245	Y101H	probably benign	Het
Vmn2r57	A	G	7: 41,428,665	L123P	probably damaging	Het
Wdr17	T	C	8: 54,681,453	N331D	probably damaging	Het
Wdr47	C	T	3: 108,614,355	Q89*	probably null	Het
Zcchc4	A	T	5: 52,784,033	T57S	probably benign	Het

Other mutations in Btd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01125:Btd	APN	14	31667776	missense	probably benign	0.00
IGL02728:Btd	APN	14	31667362	missense	probably benign	0.00
IGL02965:Btd	APN	14	31667236	missense	probably damaging	1.00
R1503:Btd	UTSW	14	31667655	missense	probably damaging	1.00
R1662:Btd	UTSW	14	31666790	missense	probably damaging	1.00
R1817:Btd	UTSW	14	31662289	missense	possibly damaging	0.95
R1868:Btd	UTSW	14	31667309	missense	probably benign	0.13
R2225:Btd	UTSW	14	31667060	missense	probably benign	0.00
R2418:Btd	UTSW	14	31641136	critical splice donor site	probably null
R4660:Btd	UTSW	14	31667803	missense	probably benign	0.00
R4727:Btd	UTSW	14	31662321	missense	probably benign	0.01
R4923:Btd	UTSW	14	31662087	missense	possibly damaging	0.92
R5703:Btd	UTSW	14	31667047	nonsense	probably null
R5806:Btd	UTSW	14	31667512	missense	probably benign
R6110:Btd	UTSW	14	31641108	unclassified	probably benign
R6119:Btd	UTSW	14	31641108	unclassified	probably benign
R6120:Btd	UTSW	14	31641108	unclassified	probably benign
R7019:Btd	UTSW	14	31667106	missense	possibly damaging	0.88
R7021:Btd	UTSW	14	31667831	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGTCGACCGCTACCGTAAG -3'
(R):5'- GTGGCTACCTGGGCAATTATAAG -3'

Sequencing Primer
(F):5'- ACAACCTGTACTTTGAGGCG -3'
(R):5'- CTACCTGGGCAATTATAAGGTGACC -3'

Posted On

2019-05-13