Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03024:Blnk'

408107

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: 0.135) question?

Stock #

IGL03024

Quality Score

Status

Chromosome

Chromosomal Location

40928927-40994535 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 40994002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112473 (fasta)

Gene Model

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

AlphaFold

Q9QUN3

Predicted Effect

probably benign
Transcript: ENSMUST00000054769

SMART Domains

Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132

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

SMART Domains

Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 8,993,632	F257L	probably benign	Het
Aaas	A	G	15: 102,350,491		probably benign	Het
AI661453	C	T	17: 47,446,588	R57W	probably damaging	Het
Ank2	C	A	3: 126,955,870	E503D	probably damaging	Het
Bahd1	T	C	2: 118,916,116	V72A	probably damaging	Het
Bcl3	A	G	7: 19,809,134		probably benign	Het
Cd81	T	C	7: 143,067,352	I230T	probably benign	Het
Cdc20b	A	T	13: 113,091,042	R485S	possibly damaging	Het
Cenpp	C	A	13: 49,464,254	A273S	probably benign	Het
Cep295	A	G	9: 15,325,572	V2022A	probably benign	Het
Ces1d	C	A	8: 93,169,718		probably null	Het
Cfap61	C	A	2: 145,939,999		probably benign	Het
Col8a1	T	A	16: 57,628,364	H261L	unknown	Het
Cyp2j5	A	T	4: 96,629,523	M484K	probably benign	Het
D930020B18Rik	T	C	10: 121,685,622		probably benign	Het
Dhdds	A	T	4: 133,982,849	L203Q	probably damaging	Het
Dusp6	A	G	10: 99,266,294	T381A	probably damaging	Het
Fnbp4	A	G	2: 90,751,179	D192G	probably benign	Het
Gbp2	G	T	3: 142,632,019	V299F	probably damaging	Het
Gfpt1	G	T	6: 87,053,831	V66F	probably damaging	Het
Heatr1	T	C	13: 12,407,509		probably benign	Het
Ikbkap	A	G	4: 56,774,686		probably null	Het
Irf8	T	A	8: 120,753,358	S112T	probably damaging	Het
Jmy	G	T	13: 93,499,199	N36K	probably damaging	Het
Kcnt2	T	C	1: 140,570,455	I866T	probably benign	Het
Kif1c	A	T	11: 70,705,189	M210L	probably damaging	Het
Kng1	G	A	16: 23,074,692	V272I	possibly damaging	Het
Lrig2	A	C	3: 104,494,073	M166R	probably damaging	Het
Mastl	A	G	2: 23,139,919	L265P	probably damaging	Het
Mmp27	A	G	9: 7,581,376	T547A	probably benign	Het
Myh4	T	C	11: 67,248,479	C541R	probably damaging	Het
Naip2	A	T	13: 100,189,354	F15L	possibly damaging	Het
Nipal1	G	T	5: 72,663,625		probably null	Het
Nrp2	A	T	1: 62,771,734	N645Y	probably damaging	Het
Olfr1284	T	A	2: 111,379,590	F197I	possibly damaging	Het
Olfr348	T	A	2: 36,786,846	F107Y	possibly damaging	Het
Olfr39	T	A	9: 20,285,984	M103K	probably benign	Het
Plcl1	T	A	1: 55,695,787	S96T	probably damaging	Het
Prl2c1	A	C	13: 27,856,541	D139A	probably benign	Het
Prmt5	A	T	14: 54,516,598	M43K	possibly damaging	Het
Ptpn21	T	A	12: 98,680,056	M1048L	probably benign	Het
Ptprq	T	C	10: 107,685,566	E653G	possibly damaging	Het
Rbm6	A	G	9: 107,787,368	S689P	probably damaging	Het
Rtn3	A	G	19: 7,483,090		probably benign	Het
Shoc2	T	C	19: 54,003,027	I241T	probably benign	Het
Sipa1	A	T	19: 5,656,161	D380E	probably damaging	Het
Slc1a6	T	C	10: 78,814,608	V560A	probably benign	Het
Speer2	T	C	16: 69,858,115	H154R	possibly damaging	Het
Tlk1	A	T	2: 70,746,036	C247*	probably null	Het
Trim15	A	G	17: 36,866,893	L70P	probably damaging	Het
Ttc9b	T	C	7: 27,654,933	L148P	probably damaging	Het
Vwa8	C	T	14: 78,995,098	P627S	probably benign	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
IGL02831:Blnk	APN	19	40962429	missense	probably damaging	1.00
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
R9094:Blnk	UTSW	19	40994039	missense	probably benign	0.39
R9139:Blnk	UTSW	19	40934518	missense	probably benign	0.00

Posted On

2016-08-02