Mutagenetix > Incidental Mutation

Incidental Mutation 'R7101:Blnk'

550868

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

045193-MU

Accession Numbers

Essential gene?

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

Stock #

R7101 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40917371-40982664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40961082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 21 (M21L)

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 benign
Transcript: ENSMUST00000054769
AA Change: M21L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: M21L

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: M21L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: M21L

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,438 (GRCm39)	D568G	probably benign	Het
Angpt1	T	C	15: 42,386,965 (GRCm39)	I130V	probably benign	Het
Ankrd11	G	T	8: 123,622,194 (GRCm39)	Q553K	probably benign	Het
Ankrd42	A	T	7: 92,280,752 (GRCm39)	H59Q	possibly damaging	Het
Ankrd52	C	T	10: 128,218,249 (GRCm39)	R318C	probably damaging	Het
Arrdc5	G	A	17: 56,601,522 (GRCm39)	T201M	probably damaging	Het
Atxn1l	A	G	8: 110,459,132 (GRCm39)	S377P	probably benign	Het
Baz2a	T	C	10: 127,957,056 (GRCm39)	F936S	possibly damaging	Het
Bicc1	T	C	10: 70,766,483 (GRCm39)	D913G	probably damaging	Het
Cabin1	T	C	10: 75,587,401 (GRCm39)	H132R	probably benign	Het
Ccdc154	A	G	17: 25,382,442 (GRCm39)	H88R	probably benign	Het
Cfap20dc	G	T	14: 8,511,171 (GRCm38)	S414R	possibly damaging	Het
Clic5	G	T	17: 44,586,179 (GRCm39)	A223S	probably benign	Het
Col28a1	T	A	6: 8,014,795 (GRCm39)	Y870F	possibly damaging	Het
Dhx37	G	A	5: 125,502,006 (GRCm39)	Q497*	probably null	Het
Dnah11	T	C	12: 118,031,880 (GRCm39)	T1763A	probably benign	Het
Dnajc13	T	C	9: 104,042,221 (GRCm39)	R2005G	possibly damaging	Het
Dop1a	G	A	9: 86,389,722 (GRCm39)	G541S	probably benign	Het
Drosha	C	T	15: 12,865,153 (GRCm39)	T627M	probably damaging	Het
Ephb3	C	T	16: 21,037,268 (GRCm39)	H455Y	possibly damaging	Het
Eri1	A	C	8: 35,949,777 (GRCm39)	C127G	probably damaging	Het
Faf1	A	T	4: 109,783,153 (GRCm39)	E548D	probably benign	Het
Gm3285	C	A	10: 77,698,194 (GRCm39)	C114*	probably null	Het
Gm9736	C	T	10: 77,587,167 (GRCm39)	V8I	unknown	Het
Gnptab	A	T	10: 88,276,174 (GRCm39)	M1154L	probably benign	Het
Grin1	G	A	2: 25,186,647 (GRCm39)	T770M	probably damaging	Het
Haus1	A	G	18: 77,854,570 (GRCm39)	S67P	possibly damaging	Het
Homer1	C	A	13: 93,492,562 (GRCm39)	Q184K	probably benign	Het
Hook2	A	G	8: 85,723,680 (GRCm39)	T401A	probably benign	Het
Il6st	G	A	13: 112,631,907 (GRCm39)		probably null	Het
Kcnh8	A	T	17: 53,212,038 (GRCm39)	D612V	probably damaging	Het
Ltbr	C	G	6: 125,289,763 (GRCm39)	E144Q	probably benign	Het
Mcf2l	G	T	8: 13,063,579 (GRCm39)	R961L	possibly damaging	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo1b	G	T	1: 51,797,160 (GRCm39)	Q961K	probably benign	Het
Myo1h	C	A	5: 114,480,258 (GRCm39)	T531N		Het
Ngly1	G	A	14: 16,283,445 (GRCm38)	R408Q	probably damaging	Het
Nup133	T	C	8: 124,632,966 (GRCm39)	E1055G	possibly damaging	Het
Nutm2	A	G	13: 50,626,934 (GRCm39)	K363R	probably benign	Het
Obox8	A	T	7: 14,066,752 (GRCm39)	Y97*	probably null	Het
Odc1	A	G	12: 17,597,319 (GRCm39)	D7G	probably benign	Het
Ogfod2	C	T	5: 124,252,558 (GRCm39)	T182I	unknown	Het
Or2t49	A	G	11: 58,393,379 (GRCm39)	M7T	probably benign	Het
Or4c111	A	T	2: 88,844,324 (GRCm39)	V28E	possibly damaging	Het
Or8b12b	T	C	9: 37,684,287 (GRCm39)	S111P	probably damaging	Het
Or8b46	G	A	9: 38,450,966 (GRCm39)	M258I	probably benign	Het
Parp4	A	G	14: 56,827,430 (GRCm39)	D188G	probably benign	Het
Phactr2	T	C	10: 13,122,922 (GRCm39)	E400G	probably benign	Het
Phlpp1	G	A	1: 106,100,397 (GRCm39)	V222M	possibly damaging	Het
Ppp1r16b	T	C	2: 158,603,683 (GRCm39)	V536A	probably damaging	Het
Prex2	T	C	1: 11,223,833 (GRCm39)	V719A	possibly damaging	Het
Prpf8	C	T	11: 75,381,226 (GRCm39)	A242V	possibly damaging	Het
Prr14l	A	G	5: 32,986,771 (GRCm39)	L908P	probably damaging	Het
Prrc2b	A	G	2: 32,117,005 (GRCm39)	N2146D	possibly damaging	Het
Rtkn	T	C	6: 83,126,993 (GRCm39)	V333A	possibly damaging	Het
Samd8	T	C	14: 21,825,442 (GRCm39)	Y196H	probably benign	Het
Six5	A	G	7: 18,828,784 (GRCm39)	T75A	probably benign	Het
Slc35a4	T	A	18: 36,814,591 (GRCm39)	L42H	probably damaging	Het
Svs3a	A	T	2: 164,131,933 (GRCm39)	D168V	probably damaging	Het
Themis	T	A	10: 28,637,422 (GRCm39)	Y175*	probably null	Het
Tspan33	G	T	6: 29,716,783 (GRCm39)	R180L	probably benign	Het
Ttc28	C	T	5: 111,232,958 (GRCm39)	S145F	probably damaging	Het
Txn2	G	A	15: 77,810,878 (GRCm39)	T102I	unknown	Het
Usp34	T	A	11: 23,376,183 (GRCm39)	V1908E		Het
Vmn2r101	A	G	17: 19,809,350 (GRCm39)	I160V	probably null	Het
Vmn2r104	A	T	17: 20,250,358 (GRCm39)	C638S	possibly damaging	Het
Wdfy4	C	T	14: 32,682,777 (GRCm39)	R3136Q		Het
Zan	C	A	5: 137,396,552 (GRCm39)	A4335S	unknown	Het
Zfp180	G	T	7: 23,803,958 (GRCm39)	V126F	probably benign	Het
Zfp429	T	A	13: 67,538,931 (GRCm39)	D171V	possibly damaging	Het
Zfp638	T	C	6: 83,931,708 (GRCm39)	I798T	probably benign	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
R1803:Blnk	UTSW	19	40,940,821 (GRCm39)	missense	probably damaging	0.96
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
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'- AGGTCCCTGAGTTCTACTTCAC -3'
(R):5'- GCCAGAGTTCTTAGAGGGAC -3'

Sequencing Primer
(F):5'- TCTACTTCACTCCCTAGTAAGAAGG -3'
(R):5'- GGACCAGTGCCTTTTCTT -3'

Posted On

2019-05-15