Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00686:Btk'

9316

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btk

Ensembl Gene

ENSMUSG00000031264

Gene Name

Bruton agammaglobulinemia tyrosine kinase

Synonyms

Bruton's tyrosine kinase, X-linked immune deficiency, xid

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.367) question?

Stock #

IGL00686

Quality Score

Status

Chromosome

Chromosomal Location

133443085-133484319 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133460013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 152 (Y152H)

Ref Sequence

ENSEMBL: ENSMUSP00000033617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033617] [ENSMUST00000113213]

AlphaFold

P35991

PDB Structure

Crystal Structure of an auto-inhibited form of Bruton's Tryrosine Kinase [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000033617
AA Change: Y152H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033617
Gene: ENSMUSG00000031264
AA Change: Y152H

Domain	Start	End	E-Value	Type
PH	4	135	1.23e-13	SMART
BTK	135	171	1.95e-22	SMART
low complexity region	183	192	N/A	INTRINSIC
SH3	217	273	1.95e-19	SMART
SH2	279	368	2.47e-32	SMART
TyrKc	402	651	2.14e-137	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113213
AA Change: Y152H

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

SMART Domains

Protein: ENSMUSP00000108839
Gene: ENSMUSG00000031264
AA Change: Y152H

Domain	Start	End	E-Value	Type
PH	4	135	1.23e-13	SMART
BTK	135	171	1.95e-22	SMART
low complexity region	183	192	N/A	INTRINSIC
SH3	217	273	1.95e-19	SMART
SH2	279	353	1.02e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132664

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 plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mutants have immune defects including reduced B cell numbers, serum immunoglobulin deficiencies, and defective responses to B cell activators and thymus-independent antigens. B-1 B cells are absent in these mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 6 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,489 (GRCm39)	S216P	possibly damaging	Het
Casp8ap2	A	G	4: 32,641,433 (GRCm39)	D829G	probably damaging	Het
Fam135b	A	G	15: 71,334,168 (GRCm39)	S1009P	probably benign	Het
Glt8d2	T	A	10: 82,487,347 (GRCm39)	N298Y	possibly damaging	Het
Samt4	C	T	X: 153,267,128 (GRCm39)	T89I	probably benign	Het
Tlcd3b	C	T	7: 126,424,175 (GRCm39)		probably benign	Het

Other mutations in Btk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Btk	APN	X	133,474,683 (GRCm39)	missense	probably damaging	1.00
IGL02328:Btk	APN	X	133,459,449 (GRCm39)	missense	probably damaging	0.99
LCD18:Btk	UTSW	X	133,479,574 (GRCm39)	intron	probably benign
R2017:Btk	UTSW	X	133,448,350 (GRCm39)	missense	probably benign	0.36

Posted On

2012-12-06