Mutagenetix > Incidental Mutations

Incidental Mutation 'R6703:Blnk'

528321

Institutional Source

Beutler Lab

Gene Symbol

Blnk

Ensembl Gene

ENSMUSG00000061132

Gene Name

B cell linker

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R6703 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40928927-40994535 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 40962506 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112473 (fasta)

Gene Model

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

AlphaFold

Q9QUN3

Predicted Effect

probably null
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 null
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 null
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

probably null
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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

99% (73/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
1700080E11Rik	T	C	9: 105,144,559	Y96C	possibly damaging	Het
Akap13	T	C	7: 75,602,898	S259P	probably damaging	Het
Aoc1	A	C	6: 48,905,714	T197P	probably damaging	Het
Ccser1	A	T	6: 61,638,511	K94*	probably null	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Clec4n	A	G	6: 123,235,594	Q89R	probably null	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Col6a3	C	T	1: 90,792,462	R1552Q	probably benign	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Dock7	T	C	4: 98,946,672	E1822G	probably damaging	Het
Dpyd	A	T	3: 118,897,200		probably null	Het
Dyrk4	A	T	6: 126,890,082	I329N	probably damaging	Het
E4f1	C	A	17: 24,447,131	R231L	probably damaging	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Fkbp7	A	T	2: 76,671,762	M99K	probably damaging	Het
Flad1	T	C	3: 89,408,590	S222G	probably benign	Het
H1fnt	C	A	15: 98,257,272		probably benign	Het
Ighg2b	T	C	12: 113,305,033		probably benign	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Itln1	C	T	1: 171,530,583	C199Y	probably damaging	Het
Kctd3	G	A	1: 188,996,529	R137C	probably damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Larp7	C	T	3: 127,544,224	M395I	probably damaging	Het
Lpcat3	C	T	6: 124,663,222	A5V	probably benign	Het
Lrrc43	C	T	5: 123,499,469	T233M	possibly damaging	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Mgst2	T	C	3: 51,664,612		probably null	Het
Mug2	T	G	6: 122,078,694	I1112R	probably benign	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nectin3	A	G	16: 46,463,842	S160P	probably damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr165	T	C	16: 19,407,372	I215V	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdh10	G	A	3: 45,381,299	V683M	possibly damaging	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pif1	T	C	9: 65,593,263	V490A	probably damaging	Het
Plekhn1	A	T	4: 156,224,793	Y219N	probably benign	Het
Ppl	T	G	16: 5,089,464	E989A	probably damaging	Het
Prkdc	T	G	16: 15,670,528	S505A	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Ptges	A	G	2: 30,903,121	V33A	possibly damaging	Het
Qser1	G	A	2: 104,777,325	T1416I	possibly damaging	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rtn3	A	T	19: 7,435,045	V788D	probably damaging	Het
Rtn4r	T	C	16: 18,151,191	L161P	probably damaging	Het
Rtn4rl1	G	A	11: 75,265,528	R262Q	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Senp6	A	G	9: 80,121,921	E522G	probably damaging	Het
Slc27a6	A	G	18: 58,609,839	N533S	probably benign	Het
Slc39a5	T	A	10: 128,397,782	D282V	probably damaging	Het
Smc1b	C	T	15: 85,092,031	R825Q	probably benign	Het
Snx14	A	G	9: 88,422,914	I109T	probably damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
Sox5	G	T	6: 143,833,465	S648R	probably damaging	Het
Sptbn2	G	A	19: 4,749,814	S2161N	probably benign	Het
Sptbn2	C	A	19: 4,749,815	S2161R	probably benign	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Tmub1	T	C	5: 24,446,946	S7G	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Tusc5	A	T	11: 76,694,162		probably null	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Zfp438	A	G	18: 5,214,044	S305P	probably benign	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGCTGTTTGCCCATCTC -3'
(R):5'- TGGAAAGTCCTGTGTGATCATG -3'

Sequencing Primer
(F):5'- ATCCTGTGGTCCCAGCGTC -3'
(R):5'- AAGTCCTGTGTGATCATGGCAGG -3'

Posted On

2018-07-24