Mutagenetix > Incidental Mutation

Incidental Mutation 'R7019:Btd'

545526

Institutional Source

Beutler Lab

Gene Symbol

Btd

Ensembl Gene

ENSMUSG00000021900

Gene Name

biotinidase

Synonyms

MMRRC Submission

045120-MU

Accession Numbers

Essential gene?

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

Stock #

R7019 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31363014-31390154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 31389062 bp (GRCm39)

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]

AlphaFold

no structure available at present

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

Meta Mutation Damage Score

0.2349

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: 8,436,395 (GRCm39)	K414*	probably null	Het
Aco1	T	A	4: 40,186,376 (GRCm39)	I596N	probably damaging	Het
Adgre1	A	C	17: 57,717,945 (GRCm39)	D319A	probably damaging	Het
Birc6	T	C	17: 74,916,340 (GRCm39)	V445A	probably benign	Het
C7	T	A	15: 5,075,164 (GRCm39)	Y176F	probably benign	Het
Ccdc102a	T	C	8: 95,636,431 (GRCm39)	S287G	probably benign	Het
Ccdc178	T	A	18: 22,283,495 (GRCm39)	T12S	probably benign	Het
Cnga4	G	T	7: 105,055,036 (GRCm39)	A104S	probably benign	Het
Col10a1	G	T	10: 34,270,947 (GRCm39)	L306F	probably damaging	Het
Cpne5	T	C	17: 29,445,196 (GRCm39)	D36G	probably damaging	Het
Csmd2	G	A	4: 128,262,856 (GRCm39)	D681N		Het
Cspg4b	C	T	13: 113,488,284 (GRCm39)	T102I	probably benign	Het
Cstl1	A	G	2: 148,597,223 (GRCm39)	M75V	probably benign	Het
Cyp26a1	T	C	19: 37,687,260 (GRCm39)	L149P	probably damaging	Het
D630045J12Rik	T	G	6: 38,171,570 (GRCm39)	E866A	probably benign	Het
Dlec1	C	T	9: 118,941,490 (GRCm39)	P292L	probably benign	Het
Dpp3	T	G	19: 4,966,817 (GRCm39)	E402A	possibly damaging	Het
Egf	T	C	3: 129,511,713 (GRCm39)		probably null	Het
Epha5	T	C	5: 84,564,321 (GRCm39)	Q15R	possibly damaging	Het
Esyt3	A	G	9: 99,197,338 (GRCm39)	F831L	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fut7	A	G	2: 25,315,792 (GRCm39)	D350G	probably benign	Het
Gab1	C	A	8: 81,511,446 (GRCm39)	E466D	probably damaging	Het
Glrp1	A	T	1: 88,430,890 (GRCm39)	M160K	unknown	Het
Gngt1	T	C	6: 3,994,088 (GRCm39)		probably null	Het
Gprc6a	A	T	10: 51,507,508 (GRCm39)	V7E	possibly damaging	Het
Idh3b	A	T	2: 130,122,886 (GRCm39)	V301D	probably damaging	Het
Ifi202b	A	C	1: 173,791,524 (GRCm39)	C385G	probably benign	Het
Ilvbl	T	A	10: 78,414,920 (GRCm39)	L261Q	probably damaging	Het
Irx6	T	A	8: 93,405,362 (GRCm39)	L410Q	probably damaging	Het
Ism2	T	C	12: 87,346,437 (GRCm39)	M15V	unknown	Het
Itih5	C	A	2: 10,195,138 (GRCm39)	R177S	probably damaging	Het
Klra3	C	T	6: 130,304,087 (GRCm39)	G202R	probably damaging	Het
Krt7	T	C	15: 101,311,851 (GRCm39)	V103A	probably damaging	Het
Lama3	T	C	18: 12,661,475 (GRCm39)	S2145P	probably damaging	Het
Mlph	A	G	1: 90,869,428 (GRCm39)	R477G	probably damaging	Het
Mybpc1	T	A	10: 88,379,581 (GRCm39)	L653F	probably damaging	Het
Myrfl	A	G	10: 116,617,852 (GRCm39)		probably null	Het
Myrip	T	G	9: 120,251,573 (GRCm39)	L232R	probably damaging	Het
Nrdc	A	T	4: 108,885,999 (GRCm39)	H126L	probably benign	Het
Or4n5	A	T	14: 50,133,124 (GRCm39)	I45N	probably damaging	Het
Or5p50	G	T	7: 107,422,365 (GRCm39)	L104I	probably benign	Het
Or8c11	T	A	9: 38,290,098 (GRCm39)	L307Q	possibly damaging	Het
Pcdhb10	T	A	18: 37,546,056 (GRCm39)	N377K	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Prkdc	A	C	16: 15,587,830 (GRCm39)	I2572L	probably benign	Het
Ptpro	C	A	6: 137,357,476 (GRCm39)	D322E	probably benign	Het
R3hcc1	A	G	14: 69,941,574 (GRCm39)	I332T	probably damaging	Het
Rab8a	T	C	8: 72,915,227 (GRCm39)	F9L	probably damaging	Het
Ranbp3l	A	T	15: 9,057,241 (GRCm39)	K165N	probably damaging	Het
Rock2	T	A	12: 17,027,741 (GRCm39)	C1353S	probably damaging	Het
Rsad2	T	A	12: 26,506,418 (GRCm39)	M1L	possibly damaging	Het
Tymp	A	T	15: 89,260,484 (GRCm39)		probably null	Het
Vmn1r104	A	G	7: 20,268,491 (GRCm39)	M244V	probably benign	Het
Vmn1r232	G	A	17: 21,133,547 (GRCm39)	T351M	possibly damaging	Het
Vmn2r50	A	G	7: 9,784,172 (GRCm39)	Y101H	probably benign	Het
Vmn2r57	A	G	7: 41,078,089 (GRCm39)	L123P	probably damaging	Het
Wdr17	T	C	8: 55,134,488 (GRCm39)	N331D	probably damaging	Het
Wdr47	C	T	3: 108,521,671 (GRCm39)	Q89*	probably null	Het
Zcchc4	A	T	5: 52,941,375 (GRCm39)	T57S	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
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
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

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