Mutagenetix > Incidental Mutations

Incidental Mutation 'R1617:Blnk'

174398

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

039654-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1617 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

40928927-40994535 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40962363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 115 (T115A)

Ref Sequence

ENSEMBL: ENSMUSP00000112473 (fasta)

Gene Model

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

AlphaFold

Q9QUN3

Predicted Effect

probably benign
Transcript: ENSMUST00000054769
AA Change: T115A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: T115A

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: T115A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: T115A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

98% (83/85)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,937	I91K	probably damaging	Het
Adamts16	T	A	13: 70,798,035	M254L	probably benign	Het
Adgre5	T	C	8: 83,730,177	I192V	possibly damaging	Het
Akr1c21	G	A	13: 4,576,352		probably null	Het
Amz2	A	G	11: 109,434,024	T245A	probably benign	Het
Aqp7	A	C	4: 41,036,109	M43R	probably null	Het
Arid3c	G	A	4: 41,725,103	P315S	probably damaging	Het
Birc2	A	T	9: 7,826,951	Y345N	possibly damaging	Het
Col5a1	T	C	2: 27,952,381	S423P	unknown	Het
Corin	A	T	5: 72,503,952	F66Y	possibly damaging	Het
Cpd	A	T	11: 76,846,669	W100R	probably damaging	Het
Cpsf1	A	T	15: 76,602,370	Y296*	probably null	Het
Cyp2d34	T	C	15: 82,620,845	T5A	probably benign	Het
Dhrs7c	G	T	11: 67,815,077	V219L	possibly damaging	Het
Dnah3	T	C	7: 120,089,946	M82V	probably benign	Het
Dnah9	A	G	11: 65,895,921	S3629P	probably damaging	Het
Fam160a2	A	G	7: 105,385,062	L454P	probably damaging	Het
Fbrs	T	C	7: 127,487,711	L33P	probably damaging	Het
Galnt11	T	A	5: 25,258,893	S388T	probably damaging	Het
Glmp	A	G	3: 88,328,119		probably benign	Het
Gm13178	T	G	4: 144,715,391	T97P	probably damaging	Het
Gm13212	A	T	4: 145,624,307		probably benign	Het
Gm9268	A	G	7: 43,024,079	E187G	probably benign	Het
Gm9894	A	G	13: 67,772,726		noncoding transcript	Het
Grik3	A	G	4: 125,691,192	M618V	probably benign	Het
Hmcn1	T	C	1: 150,745,027	D1144G	probably damaging	Het
Hnrnpa2b1	T	C	6: 51,466,398	K161R	possibly damaging	Het
Kmt2c	T	C	5: 25,375,927	I523V	probably benign	Het
Lmln	C	T	16: 33,117,130	P622S	probably damaging	Het
Lmtk2	A	G	5: 144,173,862	T467A	probably damaging	Het
Map1s	T	A	8: 70,913,451	N333K	probably damaging	Het
Mgat4d	C	A	8: 83,365,711	A242D	probably damaging	Het
Muc5b	T	A	7: 141,863,524	Y3402*	probably null	Het
Myo3b	G	T	2: 70,281,218	A922S	probably benign	Het
Nphs1	T	C	7: 30,482,531	V1183A	probably benign	Het
Nup160	T	A	2: 90,679,499	C31S	probably benign	Het
Olfr1061	A	T	2: 86,413,691	Y120*	probably null	Het
Olfr48	T	C	2: 89,844,254	T240A	probably benign	Het
Pcdhb5	T	G	18: 37,321,402	Y278*	probably null	Het
Pkhd1	T	A	1: 20,198,050	E3368V	possibly damaging	Het
Pla2g6	A	G	15: 79,289,141	M676T	probably benign	Het
Plcb1	A	T	2: 135,337,441	N590Y	probably damaging	Het
Prr12	G	A	7: 45,049,594		probably benign	Het
Psat1	A	G	19: 15,924,302		probably null	Het
Ptpn9	T	G	9: 57,027,408	I152S	possibly damaging	Het
Ric8b	T	A	10: 84,947,611	F111Y	probably damaging	Het
Slc44a3	G	A	3: 121,461,265	A568V	probably benign	Het
Smarcd3	T	G	5: 24,595,194	R213S	probably damaging	Het
Snx13	T	C	12: 35,086,896	Y119H	probably damaging	Het
Socs2	C	A	10: 95,413,081	E57*	probably null	Het
Spred1	C	T	2: 117,175,347	P197S	probably benign	Het
Srek1	G	T	13: 103,743,604	P482Q	unknown	Het
Tapbp	A	G	17: 33,920,431	T134A	probably benign	Het
Tarbp1	T	C	8: 126,444,268	I998V	possibly damaging	Het
Tbcel	G	T	9: 42,461,293		probably benign	Het
Tec	A	G	5: 72,782,105	F189S	probably damaging	Het
Tmprss11g	A	T	5: 86,499,563	Y39N	probably damaging	Het
Tmtc1	A	G	6: 148,355,404		probably benign	Het
Trpa1	A	G	1: 14,873,675	I1070T	probably damaging	Het
Trpm2	T	A	10: 77,935,875		probably null	Het
Ttc21b	G	T	2: 66,226,035	T669K	probably benign	Het
Ttll4	G	A	1: 74,679,401	R137H	probably benign	Het
Ubqln3	G	T	7: 104,142,860	L8I	possibly damaging	Het
Ung	C	A	5: 114,131,354	N42K	probably benign	Het
Upp1	T	C	11: 9,134,865	S195P	probably damaging	Het
Urb1	T	C	16: 90,760,452	E1762G	possibly damaging	Het
Utp11	T	C	4: 124,686,111	K35E	probably damaging	Het
Vav3	A	T	3: 109,510,978	K305I	probably damaging	Het
Vmn1r197	A	G	13: 22,328,328	I140V	possibly damaging	Het
Zfc3h1	A	G	10: 115,390,922	T295A	probably benign	Het
Zfp46	T	C	4: 136,290,512	L219P	probably damaging	Het
Zfp493	G	A	13: 67,783,880	V33M	probably damaging	Het
Zfp92	T	C	X: 73,419,860		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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGGACATCCACAGTTTAGGTGGC -3'
(R):5'- GCACGATGCTTACATTTGCAGGAC -3'

Sequencing Primer
(F):5'- CAATGCTccctcccccg -3'
(R):5'- GCTTACATTTGCAGGACAGTGAC -3'

Posted On

2014-04-24