Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00551:Btk'

3092

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 #

IGL00551

Quality Score

Status

Chromosome

Chromosomal Location

133443085-133484319 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133474683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 42 (Y42H)

Ref Sequence

ENSEMBL: ENSMUSP00000108839 (fasta)

Gene Model

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

AlphaFold

P35991

Predicted Effect

probably damaging
Transcript: ENSMUST00000033617
AA Change: Y42H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033617
Gene: ENSMUSG00000031264
AA Change: Y42H

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: Y42H

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

SMART Domains

Protein: ENSMUSP00000108839
Gene: ENSMUSG00000031264
AA Change: Y42H

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: ENSMUST00000128333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150245

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Art2b	C	T	7: 101,229,776 (GRCm39)	C41Y	probably damaging	Het
Cacna1e	T	C	1: 154,279,429 (GRCm39)	D1720G	probably damaging	Het
Ccr5	T	C	9: 123,924,625 (GRCm39)	I76T	probably damaging	Het
Chd3	A	G	11: 69,237,455 (GRCm39)	V1913A	probably damaging	Het
Dmxl2	A	G	9: 54,358,122 (GRCm39)	Y526H	probably damaging	Het
Dnah8	A	T	17: 30,882,452 (GRCm39)	K675*	probably null	Het
Eif2b1	A	G	5: 124,714,932 (GRCm39)	F115L	probably damaging	Het
Erlin1	T	C	19: 44,047,585 (GRCm39)	D112G	probably damaging	Het
Fabp12	A	G	3: 10,311,115 (GRCm39)		probably benign	Het
Fam47c	A	G	X: 77,782,060 (GRCm39)	E214G	probably damaging	Het
Fkbp5	G	T	17: 28,620,020 (GRCm39)		probably benign	Het
H1f2	C	A	13: 23,922,828 (GRCm39)		probably benign	Het
Kidins220	G	T	12: 25,088,559 (GRCm39)		probably benign	Het
Limd2	T	C	11: 106,050,031 (GRCm39)	E15G	probably benign	Het
Mga	T	A	2: 119,750,295 (GRCm39)	C696S	possibly damaging	Het
Naa16	A	G	14: 79,593,169 (GRCm39)	F468L	probably damaging	Het
Ndufaf1	A	G	2: 119,490,950 (GRCm39)	S37P	probably damaging	Het
Phrf1	A	G	7: 140,838,790 (GRCm39)		probably benign	Het
Prr14	A	G	7: 127,073,819 (GRCm39)	T228A	probably benign	Het
Rfc1	A	T	5: 65,453,352 (GRCm39)	F265L	probably benign	Het
Selenos	A	G	7: 65,736,942 (GRCm39)	E137G	probably benign	Het
Tars1	T	C	15: 11,388,307 (GRCm39)		probably null	Het
Tpcn1	A	G	5: 120,698,390 (GRCm39)	I44T	probably benign	Het
Usp26	A	G	X: 50,846,182 (GRCm39)	V31A	probably benign	Het

Other mutations in Btk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00686:Btk	APN	X	133,460,013 (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

2012-04-20