Mutagenetix > Incidental Mutation

Incidental Mutation 'R2225:Btd'

239696

Institutional Source

Beutler Lab

Gene Symbol

Btd

Ensembl Gene

ENSMUSG00000021900

Gene Name

biotinidase

Synonyms

MMRRC Submission

040226-MU

Accession Numbers

Essential gene?

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

Stock #

R2225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31363014-31390154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31389017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 246 (D246G)

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: D246G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000087608
Gene: ENSMUSG00000021900
AA Change: D246G

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

Meta Mutation Damage Score

0.0775

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	C	6: 88,813,349 (GRCm39)	L439R	probably damaging	Het
Adcy10	A	G	1: 165,345,829 (GRCm39)	T293A	probably damaging	Het
Aen	C	A	7: 78,552,199 (GRCm39)	T15K	probably benign	Het
Aggf1	A	G	13: 95,507,354 (GRCm39)	S144P	probably damaging	Het
Akap9	A	T	5: 4,127,271 (GRCm39)	R3706S	probably damaging	Het
Ccdc33	A	G	9: 57,989,305 (GRCm39)	S123P	probably damaging	Het
Cep152	T	C	2: 125,423,704 (GRCm39)	E899G	probably damaging	Het
Cpsf6	A	T	10: 117,198,941 (GRCm39)		probably benign	Het
Crybg3	A	G	16: 59,375,041 (GRCm39)	I2071T	probably damaging	Het
Cwc22	T	A	2: 77,738,495 (GRCm39)		probably benign	Het
Ddah2	T	A	17: 35,279,187 (GRCm39)	I16N	probably damaging	Het
Dld	T	G	12: 31,391,448 (GRCm39)	M123L	probably benign	Het
Eif5b	A	T	1: 38,058,304 (GRCm39)	K202I	unknown	Het
Gm6430	T	C	1: 96,953,441 (GRCm39)		noncoding transcript	Het
Hdac9	C	T	12: 34,457,801 (GRCm39)	V251I	probably benign	Het
Hoxa10	T	C	6: 52,209,616 (GRCm39)	E52G	probably damaging	Het
Hspa4	C	T	11: 53,177,760 (GRCm39)	V117M	probably benign	Het
Htra4	T	C	8: 25,515,736 (GRCm39)	D434G	probably benign	Het
Itgb3	A	G	11: 104,556,336 (GRCm39)	M726V	probably benign	Het
Itih1	A	G	14: 30,651,534 (GRCm39)	V886A	possibly damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Limk1	G	T	5: 134,690,410 (GRCm39)		probably null	Het
Lonrf1	T	C	8: 36,703,252 (GRCm39)	D308G	probably damaging	Het
Muc4	A	T	16: 32,576,265 (GRCm39)		probably benign	Het
Muc4	G	A	16: 32,587,316 (GRCm39)	C2719Y	possibly damaging	Het
Mvb12b	G	A	2: 33,730,211 (GRCm39)	T60I	possibly damaging	Het
Myh2	C	T	11: 67,084,555 (GRCm39)	T1698M	probably benign	Het
Naalad2	A	T	9: 18,287,829 (GRCm39)	V267E	possibly damaging	Het
Nkpd1	A	T	7: 19,253,745 (GRCm39)	Y37F	probably benign	Het
Or10d5	T	C	9: 39,861,833 (GRCm39)	K78R	possibly damaging	Het
Or2l5	T	C	16: 19,333,996 (GRCm39)	H130R	probably benign	Het
Or8g33	T	C	9: 39,337,915 (GRCm39)	I151V	probably benign	Het
Plekhg2	G	A	7: 28,059,760 (GRCm39)	P1190S	probably benign	Het
Reck	A	G	4: 43,922,837 (GRCm39)	T371A	probably benign	Het
Rnf185	T	C	11: 3,382,445 (GRCm39)	D44G	probably damaging	Het
Rpgrip1l	T	C	8: 91,948,095 (GRCm39)	E1196G	probably benign	Het
Rundc1	A	G	11: 101,322,170 (GRCm39)		probably benign	Het
Sf3b3	T	C	8: 111,541,205 (GRCm39)	Y970C	probably damaging	Het
Sfxn1	A	G	13: 54,239,536 (GRCm39)	T20A	possibly damaging	Het
Shprh	T	C	10: 11,037,979 (GRCm39)		probably benign	Het
Spata31d1a	T	A	13: 59,851,529 (GRCm39)	I200L	probably benign	Het
Srsf6	G	A	2: 162,773,619 (GRCm39)	S10N	probably damaging	Het
Tbxa2r	A	G	10: 81,168,983 (GRCm39)	Y224C	probably benign	Het
Tlr5	A	G	1: 182,799,941 (GRCm39)		probably benign	Het
Tmem270	A	G	5: 134,935,492 (GRCm39)	L21P	probably damaging	Het
Tmtc2	T	C	10: 105,206,218 (GRCm39)	E359G	probably benign	Het
Tnn	A	T	1: 159,975,035 (GRCm39)	C131S	probably damaging	Het
Tnnt2	A	G	1: 135,771,529 (GRCm39)		probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tph1	A	G	7: 46,314,598 (GRCm39)		probably null	Het
Wiz	C	T	17: 32,575,899 (GRCm39)	V836M	probably damaging	Het
Zfp451	T	A	1: 33,809,988 (GRCm39)		probably benign	Het
Zfp738	A	G	13: 67,818,431 (GRCm39)	F520S	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AACTCTTGTCGACCGCTACC -3'
(R):5'- GCTACCTGGGCAATTATAAGGTG -3'

Sequencing Primer
(F):5'- CGTAAGCACAACCTGTACTTTGAGG -3'
(R):5'- CCATGTCATGGTACCAAAAGGACTTG -3'

Posted On

2014-10-15