Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00780:Blnk'

9274

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: 0.118) question?

Stock #

IGL00780

Quality Score

Status

Chromosome

Chromosomal Location

40928927-40994535 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40934446 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 412 (K412M)

Ref Sequence

ENSEMBL: ENSMUSP00000057844 (fasta)

Gene Model

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

PDB Structure

Solution structure of the SH2 domain from mouse B-cell linker protein BLNK [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000054769
AA Change: K412M

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: K412M

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 benign
Transcript: ENSMUST00000117695
AA Change: K409M

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: K409M

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	G	5: 9,422,367	T355A	probably damaging	Het
Abi3bp	A	G	16: 56,602,805	D440G	probably null	Het
Acvrl1	T	A	15: 101,137,367	F258Y	probably damaging	Het
Ano1	A	G	7: 144,655,630	S278P	probably damaging	Het
AW146154	T	C	7: 41,480,459	Y411C	probably damaging	Het
Clpb	C	T	7: 101,778,608	R387*	probably null	Het
Dach1	A	T	14: 97,901,422	N528K	possibly damaging	Het
Dag1	A	T	9: 108,209,619	W108R	probably damaging	Het
Fbn2	T	C	18: 58,095,988	T717A	probably damaging	Het
Fnbp1l	T	C	3: 122,549,249	D394G	possibly damaging	Het
Gaa	T	A	11: 119,274,291		probably null	Het
Gpr158	A	T	2: 21,826,818	K910*	probably null	Het
Grb14	G	A	2: 64,914,718	P99S	probably damaging	Het
Gtf2h2	T	C	13: 100,479,221	D264G	probably benign	Het
Heatr3	A	G	8: 88,170,940	I667V	probably benign	Het
Hsp90ab1	T	C	17: 45,569,564	N407S	probably damaging	Het
Htr2a	A	T	14: 74,706,205	L408F	possibly damaging	Het
Itgb5	G	A	16: 33,884,975	V212I	probably damaging	Het
Kmt2c	G	A	5: 25,311,051	T2598I	probably benign	Het
Lcorl	T	C	5: 45,747,295	N137S	probably damaging	Het
Lef1	T	C	3: 131,193,130	F212L	possibly damaging	Het
Map2k5	T	C	9: 63,281,077		probably benign	Het
Med15	G	A	16: 17,653,487	T642I	probably damaging	Het
Nasp	C	A	4: 116,603,999	E274*	probably null	Het
Nup210l	A	T	3: 90,190,849		probably benign	Het
Pgghg	T	C	7: 140,945,351		probably null	Het
Plpp1	A	G	13: 112,851,506	I54M	probably damaging	Het
Poldip3	C	T	15: 83,138,479	G35R	probably damaging	Het
Ppig	A	T	2: 69,732,924	E81D	possibly damaging	Het
Ptpn21	G	T	12: 98,680,371	T999K	probably damaging	Het
Rad9b	T	C	5: 122,344,247	I142V	probably benign	Het
Ralgps1	A	T	2: 33,273,627	H139Q	probably damaging	Het
Rdh16f2	T	C	10: 127,875,092		probably null	Het
Sema3d	G	A	5: 12,524,326	R265Q	probably damaging	Het
Svs1	A	G	6: 48,987,739	D227G	probably damaging	Het
Tdp1	T	C	12: 99,893,648	V198A	possibly damaging	Het
Trim43c	A	T	9: 88,841,856	D145V	probably benign	Het
Trpc4	C	T	3: 54,302,175	P654S	probably damaging	Het
Yy1	T	G	12: 108,815,537	I376S	probably damaging	Het
Zfp773	T	A	7: 7,133,114	Q161L	probably benign	Het

Other mutations in Blnk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02831:Blnk	APN	19	40962429	missense	probably damaging	1.00
IGL03024:Blnk	APN	19	40994002	splice site	probably benign
Augen	UTSW	19	40929291	missense	probably damaging	1.00
Blick	UTSW	19	40934459	missense	probably damaging	1.00
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
R8287:Blnk	UTSW	19	40929291	missense	probably damaging	1.00
R8473:Blnk	UTSW	19	40952410	missense	possibly damaging	0.81
R8798:Blnk	UTSW	19	40962351	missense	probably damaging	1.00

Posted On

2012-12-06