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: 0.142) 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 (GRCm38)

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]

AlphaFold

Q9QUN3

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
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

2015-12-18