Mutagenetix > Incidental Mutation

Incidental Mutation 'R1803:Blnk'

203347

Institutional Source

Beutler Lab

Gene Symbol

Blnk

Ensembl Gene

ENSMUSG00000061132

Gene Name

B cell linker

Synonyms

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

MMRRC Submission

039833-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R1803 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40917371-40982664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40940821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 194 (E194G)

Ref Sequence

ENSEMBL: ENSMUSP00000057844 (fasta)

Gene Model

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

AlphaFold

Q9QUN3

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054769
AA Change: E194G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: E194G

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

possibly damaging
Transcript: ENSMUST00000117695
AA Change: E194G

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: E194G

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

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	T	17: 79,935,095 (GRCm39)		probably benign	Het
Adgrl3	C	T	5: 81,919,464 (GRCm39)	R586*	probably null	Het
Arpp21	T	C	9: 111,956,466 (GRCm39)	T471A	possibly damaging	Het
Cd44	G	A	2: 102,664,597 (GRCm39)	P332S	probably damaging	Het
Cd47	T	C	16: 49,688,169 (GRCm39)	F30L	possibly damaging	Het
Cdh23	T	C	10: 60,167,060 (GRCm39)	E1861G	probably damaging	Het
Cdkal1	T	A	13: 29,701,454 (GRCm39)	M332L	probably damaging	Het
Cul9	A	G	17: 46,814,023 (GRCm39)	S2284P	probably damaging	Het
Cyp2a5	G	T	7: 26,534,971 (GRCm39)		probably null	Het
Dcp2	T	C	18: 44,528,984 (GRCm39)	I33T	probably damaging	Het
Ddx52	A	T	11: 83,836,958 (GRCm39)	I150L	probably damaging	Het
Dennd5a	T	A	7: 109,497,820 (GRCm39)	T1067S	probably benign	Het
Dnpep	A	T	1: 75,286,058 (GRCm39)	L419*	probably null	Het
Dock8	A	G	19: 25,109,599 (GRCm39)	K927R	probably benign	Het
Dpy19l4	A	T	4: 11,281,020 (GRCm39)	V475E	possibly damaging	Het
Edf1	C	T	2: 25,450,206 (GRCm39)	S41F	probably damaging	Het
Elapor2	A	G	5: 9,477,832 (GRCm39)	H410R	probably benign	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Epha3	T	C	16: 63,422,651 (GRCm39)	K579E	probably benign	Het
Exoc1	A	G	5: 76,709,288 (GRCm39)	N23S	probably benign	Het
Flt3	C	A	5: 147,303,865 (GRCm39)	E358*	probably null	Het
Fzd1	A	T	5: 4,806,385 (GRCm39)	I399K	probably damaging	Het
Gdi2	T	A	13: 3,614,547 (GRCm39)	Y333*	probably null	Het
Gm10479	A	G	12: 20,483,654 (GRCm39)	H91R	probably benign	Het
Gm10842	G	A	11: 105,037,867 (GRCm39)	R50K	unknown	Het
Grin2c	A	T	11: 115,151,558 (GRCm39)		probably null	Het
Grk2	C	T	19: 4,344,911 (GRCm39)	V53M	probably damaging	Het
H2-M10.2	C	T	17: 36,596,763 (GRCm39)	M104I	probably benign	Het
Hyou1	C	T	9: 44,295,479 (GRCm39)	Q290*	probably null	Het
Inka1	A	G	9: 107,861,938 (GRCm39)	V128A	probably benign	Het
Itgb2	T	C	10: 77,400,624 (GRCm39)	S746P	probably benign	Het
Jmjd7	C	T	2: 119,860,589 (GRCm39)	L39F	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klhl2	T	C	8: 65,212,831 (GRCm39)	E236G	probably damaging	Het
Krtap19-4	C	A	16: 88,681,879 (GRCm39)	G26C	unknown	Het
Krtap4-16	G	A	11: 99,741,998 (GRCm39)	T134I	possibly damaging	Het
Lamb2	A	G	9: 108,365,298 (GRCm39)	H1318R	probably benign	Het
Mab21l3	G	A	3: 101,742,446 (GRCm39)	T38M	probably benign	Het
Mfsd10	A	T	5: 34,794,094 (GRCm39)	D6E	possibly damaging	Het
Mnat1	G	T	12: 73,226,007 (GRCm39)	G91*	probably null	Het
Mns1	A	T	9: 72,360,016 (GRCm39)	I389F	probably damaging	Het
Morc1	A	T	16: 48,443,001 (GRCm39)	T829S	probably benign	Het
Morn5	T	A	2: 35,943,089 (GRCm39)	V63E	probably benign	Het
Mybpc1	T	C	10: 88,389,157 (GRCm39)	T404A	possibly damaging	Het
Npc1l1	A	T	11: 6,178,846 (GRCm39)	M188K	probably damaging	Het
Nrcam	T	A	12: 44,618,991 (GRCm39)	M846K	probably benign	Het
Nup210	A	C	6: 91,051,264 (GRCm39)	F373C	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5b111	A	T	19: 13,291,535 (GRCm39)	V38E	possibly damaging	Het
Or7g18	T	C	9: 18,787,376 (GRCm39)	V248A	probably damaging	Het
Osbpl8	T	C	10: 111,110,910 (GRCm39)	S471P	probably damaging	Het
Plekhn1	A	T	4: 156,306,838 (GRCm39)	I517N	probably benign	Het
Plin4	G	T	17: 56,411,931 (GRCm39)	T700K	probably damaging	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Prdm16	A	T	4: 154,419,718 (GRCm39)	M897K	probably damaging	Het
Ptprg	T	A	14: 12,091,410 (GRCm38)		probably null	Het
Rcan2	G	T	17: 44,347,924 (GRCm39)	C211F	probably damaging	Het
Rigi	A	G	4: 40,224,013 (GRCm39)	S289P	probably benign	Het
Rxfp1	C	T	3: 79,645,076 (GRCm39)	C9Y	probably benign	Het
Scn2a	G	A	2: 65,501,111 (GRCm39)		probably null	Het
Scnn1a	A	C	6: 125,309,157 (GRCm39)	R264S	probably damaging	Het
Sema4g	T	C	19: 44,986,459 (GRCm39)	V345A	probably benign	Het
Sgo2b	T	A	8: 64,380,426 (GRCm39)	D802V	probably benign	Het
Slc25a21	G	A	12: 56,904,872 (GRCm39)	T54I	probably benign	Het
Slc25a46	C	T	18: 31,727,641 (GRCm39)	E223K	probably damaging	Het
Slc25a54	A	G	3: 109,010,013 (GRCm39)	I171V	probably benign	Het
Slc7a6	T	C	8: 106,919,088 (GRCm39)	V224A	possibly damaging	Het
Smchd1	A	T	17: 71,694,001 (GRCm39)	V1248E	probably damaging	Het
Sort1	C	A	3: 108,233,015 (GRCm39)	F196L	probably damaging	Het
Sptbn4	G	A	7: 27,118,008 (GRCm39)	T357M	probably damaging	Het
Srrm3	T	A	5: 135,885,983 (GRCm39)	W308R	probably damaging	Het
Stard9	A	T	2: 120,531,970 (GRCm39)	E2742D	probably benign	Het
Tas1r1	T	A	4: 152,116,705 (GRCm39)	I310F	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tff1	A	T	17: 31,380,560 (GRCm39)	C85*	probably null	Het
Tlr11	C	T	14: 50,598,104 (GRCm39)	T30I	probably benign	Het
Trio	T	C	15: 27,748,426 (GRCm39)	T1265A	probably benign	Het
Ttc7b	T	C	12: 100,373,261 (GRCm39)	M338V	possibly damaging	Het
Umod	T	A	7: 119,063,947 (GRCm39)	S620C	probably damaging	Het
Ust	C	A	10: 8,173,819 (GRCm39)		probably null	Het
Vmn1r176	A	T	7: 23,534,609 (GRCm39)	S181R	probably damaging	Het
Vmn1r202	T	C	13: 22,686,313 (GRCm39)	T35A	probably benign	Het
Vmn1r39	C	A	6: 66,781,895 (GRCm39)	R104L	probably benign	Het
Vps13b	T	A	15: 35,430,351 (GRCm39)	Y286*	probably null	Het
Zfp579	G	A	7: 4,996,769 (GRCm39)	R381C	probably damaging	Het
Zfp85	A	G	13: 67,899,747 (GRCm39)	S71P	probably benign	Het
Zfyve16	A	T	13: 92,640,593 (GRCm39)	V1254E	probably damaging	Het

Other mutations in Blnk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Blnk	APN	19	40,922,890 (GRCm39)	missense	probably benign	0.15
IGL01286:Blnk	APN	19	40,922,950 (GRCm39)	missense	probably benign	0.00
IGL02090:Blnk	APN	19	40,922,929 (GRCm39)	missense	probably benign	0.38
IGL02814:Blnk	APN	19	40,950,873 (GRCm39)	missense	probably damaging	1.00
IGL02831:Blnk	APN	19	40,950,873 (GRCm39)	missense	probably damaging	1.00
IGL03024:Blnk	APN	19	40,982,445 (GRCm39)	splice site	probably benign
Augen	UTSW	19	40,917,735 (GRCm39)	missense	probably damaging	1.00
Blick	UTSW	19	40,922,903 (GRCm39)	missense	probably damaging	1.00
busy	UTSW	19	40,940,835 (GRCm39)	nonsense	probably null
Buzzy	UTSW	19	40,982,482 (GRCm39)	missense	probably benign	0.39
There	UTSW	19	40,940,834 (GRCm39)	missense	possibly damaging	0.94
IGL02988:Blnk	UTSW	19	40,917,660 (GRCm39)	missense	probably damaging	1.00
R0140:Blnk	UTSW	19	40,928,668 (GRCm39)	missense	probably damaging	0.99
R0671:Blnk	UTSW	19	40,926,111 (GRCm39)	nonsense	probably null
R1617:Blnk	UTSW	19	40,950,807 (GRCm39)	missense	probably benign
R1638:Blnk	UTSW	19	40,926,122 (GRCm39)	missense	probably benign
R1970:Blnk	UTSW	19	40,928,609 (GRCm39)	splice site	probably benign
R2880:Blnk	UTSW	19	40,950,899 (GRCm39)	missense	probably damaging	1.00
R2980:Blnk	UTSW	19	40,950,794 (GRCm39)	missense	probably damaging	1.00
R5421:Blnk	UTSW	19	40,956,967 (GRCm39)	missense	probably damaging	1.00
R5987:Blnk	UTSW	19	40,917,733 (GRCm39)	missense	possibly damaging	0.95
R6321:Blnk	UTSW	19	40,922,903 (GRCm39)	missense	probably damaging	1.00
R6703:Blnk	UTSW	19	40,950,950 (GRCm39)	splice site	probably null
R6970:Blnk	UTSW	19	40,950,821 (GRCm39)	missense	probably damaging	0.99
R7101:Blnk	UTSW	19	40,961,082 (GRCm39)	missense	probably benign	0.01
R7432:Blnk	UTSW	19	40,948,301 (GRCm39)	nonsense	probably null
R7560:Blnk	UTSW	19	40,940,834 (GRCm39)	missense	possibly damaging	0.94
R7797:Blnk	UTSW	19	40,948,232 (GRCm39)	missense	possibly damaging	0.51
R8287:Blnk	UTSW	19	40,917,735 (GRCm39)	missense	probably damaging	1.00
R8473:Blnk	UTSW	19	40,940,854 (GRCm39)	missense	possibly damaging	0.81
R8798:Blnk	UTSW	19	40,950,795 (GRCm39)	missense	probably damaging	1.00
R9094:Blnk	UTSW	19	40,982,482 (GRCm39)	missense	probably benign	0.39
R9139:Blnk	UTSW	19	40,922,962 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTCTGAGTGAAGGCAGCGG -3'
(R):5'- GCCAAAAGGTACCCCATTGTAAG -3'

Sequencing Primer
(F):5'- GCCCAGTGCTTTTATAACCTGGG -3'
(R):5'- CCCCATTGTAAGCAATTTTACAGTG -3'

Posted On

2014-06-23