Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02831:Blnk'

361432

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Blnk

Ensembl Gene

ENSMUSG00000061132

Gene Name

B cell linker

Synonyms

BASH, Bca, SLP-65, BCA, BLNK, Ly-57, Ly57

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL02831

Quality Score

Status

Chromosome

Chromosomal Location

40928927-40994535 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40962429 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 93 (D93N)

Ref Sequence

ENSEMBL: ENSMUSP00000112473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054769] [ENSMUST00000117695]

Predicted Effect

probably damaging
Transcript: ENSMUST00000054769
AA Change: D93N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: D93N

Domain	Start	End	E-Value	Type
Blast:SH2	139	180	6e-8	BLAST
low complexity region	235	247	N/A	INTRINSIC
low complexity region	251	266	N/A	INTRINSIC
SH2	345	436	3.07e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117695
AA Change: D93N

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

SMART Domains

Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: D93N

Domain	Start	End	E-Value	Type
Blast:SH2	139	180	6e-8	BLAST
low complexity region	235	247	N/A	INTRINSIC
low complexity region	251	266	N/A	INTRINSIC
SH2	342	433	3.07e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134568

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a partial block in pre-B cell development, a lack of B1 B cells, reduced numbers of mature B cells, lower IgM and IgG3 serum levels, poor IgM immune responses, and a high incidence of pre-B cell lymphoma. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	T	11: 110,053,081	V1121M	probably damaging	Het
Acrbp	C	A	6: 125,061,249	T471N	possibly damaging	Het
Casp7	A	G	19: 56,404,423	D3G	probably benign	Het
Cd163l1	G	T	7: 140,228,521	V782L	probably benign	Het
Coro1c	A	T	5: 113,844,408	C456S	probably benign	Het
Dlec1	T	G	9: 119,143,915	L1499R	probably damaging	Het
Dnah8	T	C	17: 30,712,276	S1422P	probably benign	Het
Exd1	T	C	2: 119,528,754	D216G	probably damaging	Het
Fhit	T	C	14: 9,870,080	T130A	probably benign	Het
Frem1	A	T	4: 82,956,158	M1409K	probably benign	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Glb1l2	A	G	9: 26,767,450	V465A	probably benign	Het
Ints8	T	C	4: 11,245,896	Q194R	possibly damaging	Het
Ip6k2	C	T	9: 108,804,534		probably benign	Het
Kctd2	T	A	11: 115,430,340	*264K	probably null	Het
Krt34	C	A	11: 100,040,147		probably benign	Het
Lamc1	A	G	1: 153,247,055	S760P	probably benign	Het
Lrp1b	T	C	2: 41,193,591	N1702S	probably damaging	Het
Lrrc8e	T	A	8: 4,235,429	S551R	probably damaging	Het
Map3k20	T	C	2: 72,371,727	V139A	probably damaging	Het
Mkl1	A	G	15: 81,104,793	L9P	probably benign	Het
Napsa	A	G	7: 44,586,760	T408A	probably benign	Het
Olfr1156	T	C	2: 87,949,676		probably null	Het
Olfr132	T	C	17: 38,130,512	K227E	probably benign	Het
Olfr1361	T	C	13: 21,658,904	I140V	probably benign	Het
Panx1	A	G	9: 15,007,648	L305P	probably damaging	Het
Pkhd1l1	A	G	15: 44,501,493	H676R	probably benign	Het
Pld1	T	A	3: 28,076,425	V458E	probably damaging	Het
Ppp5c	A	G	7: 17,008,645	L256P	probably damaging	Het
Pyroxd2	G	T	19: 42,735,903	T307K	probably damaging	Het
Sin3b	A	G	8: 72,744,562	E379G	probably damaging	Het
Slc22a23	T	C	13: 34,299,069	T276A	possibly damaging	Het
Slc26a3	T	C	12: 31,452,629	I283T	probably damaging	Het
Sltm	A	G	9: 70,584,865	D712G	probably damaging	Het
Slu7	C	T	11: 43,442,653	Q367*	probably null	Het
Srbd1	T	C	17: 86,003,871	N706S	probably damaging	Het
Supt16	A	T	14: 52,170,878	M870K	possibly damaging	Het
Tnxb	T	C	17: 34,703,571	Y2453H	possibly damaging	Het
Tomm40	A	G	7: 19,703,089	Y274H	probably damaging	Het
Utp20	A	T	10: 88,815,908	D404E	probably benign	Het
Vmn2r23	T	A	6: 123,704,385	M84K	probably benign	Het
Wdr70	A	G	15: 7,884,306	Y621H	possibly damaging	Het
Wfdc8	C	T	2: 164,605,765		probably null	Het

Other mutations in Blnk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Blnk	APN	19	40934446	missense	probably benign	0.15
IGL01286:Blnk	APN	19	40934506	missense	probably benign	0.00
IGL02090:Blnk	APN	19	40934485	missense	probably benign	0.38
IGL02814:Blnk	APN	19	40962429	missense	probably damaging	1.00
IGL03024:Blnk	APN	19	40994002	splice site	probably benign
busy	UTSW	19	40952391	nonsense	probably null
There	UTSW	19	40952390	missense	possibly damaging	0.94
IGL02988:Blnk	UTSW	19	40929216	missense	probably damaging	1.00
R0140:Blnk	UTSW	19	40940224	missense	probably damaging	0.99
R0671:Blnk	UTSW	19	40937667	nonsense	probably null
R1617:Blnk	UTSW	19	40962363	missense	probably benign
R1638:Blnk	UTSW	19	40937678	missense	probably benign
R1803:Blnk	UTSW	19	40952377	missense	probably damaging	0.96
R1970:Blnk	UTSW	19	40940165	splice site	probably benign
R2880:Blnk	UTSW	19	40962455	missense	probably damaging	1.00
R2980:Blnk	UTSW	19	40962350	missense	probably damaging	1.00
R5421:Blnk	UTSW	19	40968523	missense	probably damaging	1.00
R5987:Blnk	UTSW	19	40929289	missense	possibly damaging	0.95
R6321:Blnk	UTSW	19	40934459	missense	probably damaging	1.00
R6703:Blnk	UTSW	19	40962506	splice site	probably null
R6970:Blnk	UTSW	19	40962377	missense	probably damaging	0.99
R7101:Blnk	UTSW	19	40972638	missense	probably benign	0.01
R7432:Blnk	UTSW	19	40959857	nonsense	probably null
R7560:Blnk	UTSW	19	40952390	missense	possibly damaging	0.94
R7797:Blnk	UTSW	19	40959788	missense	possibly damaging	0.51

Posted On

2015-12-18