Mutagenetix > Incidental Mutations

Incidental Mutation 'R7101:Blnk'

550868

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: 0.116) question?

Stock #

R7101 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40928927-40994535 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40972638 bp

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]

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
4930452B06Rik	G	T	14: 8,511,171	S414R	possibly damaging	Het
Adam25	A	G	8: 40,755,401	D568G	probably benign	Het
Angpt1	T	C	15: 42,523,569	I130V	probably benign	Het
Ankrd11	G	T	8: 122,895,455	Q553K	probably benign	Het
Ankrd42	A	T	7: 92,631,544	H59Q	possibly damaging	Het
Ankrd52	C	T	10: 128,382,380	R318C	probably damaging	Het
Arrdc5	G	A	17: 56,294,522	T201M	probably damaging	Het
Atxn1l	A	G	8: 109,732,500	S377P	probably benign	Het
Baz2a	T	C	10: 128,121,187	F936S	possibly damaging	Het
Bicc1	T	C	10: 70,930,653	D913G	probably damaging	Het
Cabin1	T	C	10: 75,751,567	H132R	probably benign	Het
Ccdc154	A	G	17: 25,163,468	H88R	probably benign	Het
Clic5	G	T	17: 44,275,292	A223S	probably benign	Het
Col28a1	T	A	6: 8,014,795	Y870F	possibly damaging	Het
Dhx37	G	A	5: 125,424,942	Q497*	probably null	Het
Dnah11	T	C	12: 118,068,145	T1763A	probably benign	Het
Dnajc13	T	C	9: 104,165,022	R2005G	possibly damaging	Het
Dopey1	G	A	9: 86,507,669	G541S	probably benign	Het
Drosha	C	T	15: 12,865,067	T627M	probably damaging	Het
Ephb3	C	T	16: 21,218,518	H455Y	possibly damaging	Het
Eri1	A	C	8: 35,482,623	C127G	probably damaging	Het
Faf1	A	T	4: 109,925,956	E548D	probably benign	Het
Gm3285	C	A	10: 77,862,360	C114*	probably null	Het
Gm9736	C	T	10: 77,751,333	V8I	unknown	Het
Gnptab	A	T	10: 88,440,312	M1154L	probably benign	Het
Grin1	G	A	2: 25,296,635	T770M	probably damaging	Het
Haus1	A	G	18: 77,766,870	S67P	possibly damaging	Het
Homer1	C	A	13: 93,356,054	Q184K	probably benign	Het
Hook2	A	G	8: 84,997,051	T401A	probably benign	Het
Il6st	G	A	13: 112,495,373		probably null	Het
Kcnh8	A	T	17: 52,905,010	D612V	probably damaging	Het
Ltbr	C	G	6: 125,312,800	E144Q	probably benign	Het
Mcf2l	G	T	8: 13,013,579	R961L	possibly damaging	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Myo1b	G	T	1: 51,758,001	Q961K	probably benign	Het
Myo1h	C	A	5: 114,342,197	T531N		Het
Ngly1	G	A	14: 16,283,445	R408Q	probably damaging	Het
Nup133	T	C	8: 123,906,227	E1055G	possibly damaging	Het
Nutm2	A	G	13: 50,472,898	K363R	probably benign	Het
Obox8	A	T	7: 14,332,827	Y97*	probably null	Het
Odc1	A	G	12: 17,547,318	D7G	probably benign	Het
Ogfod2	C	T	5: 124,114,495	T182I	unknown	Het
Olfr1216	A	T	2: 89,013,980	V28E	possibly damaging	Het
Olfr331	A	G	11: 58,502,553	M7T	probably benign	Het
Olfr875	T	C	9: 37,772,991	S111P	probably damaging	Het
Olfr910	G	A	9: 38,539,670	M258I	probably benign	Het
Parp4	A	G	14: 56,589,973	D188G	probably benign	Het
Phactr2	T	C	10: 13,247,178	E400G	probably benign	Het
Phlpp1	G	A	1: 106,172,667	V222M	possibly damaging	Het
Ppp1r16b	T	C	2: 158,761,763	V536A	probably damaging	Het
Prex2	T	C	1: 11,153,609	V719A	possibly damaging	Het
Prpf8	C	T	11: 75,490,400	A242V	possibly damaging	Het
Prr14l	A	G	5: 32,829,427	L908P	probably damaging	Het
Prrc2b	A	G	2: 32,226,993	N2146D	possibly damaging	Het
Rtkn	T	C	6: 83,150,012	V333A	possibly damaging	Het
Samd8	T	C	14: 21,775,374	Y196H	probably benign	Het
Six5	A	G	7: 19,094,859	T75A	probably benign	Het
Slc35a4	T	A	18: 36,681,538	L42H	probably damaging	Het
Svs3a	A	T	2: 164,290,013	D168V	probably damaging	Het
Themis	T	A	10: 28,761,426	Y175*	probably null	Het
Tspan33	G	T	6: 29,716,784	R180L	probably benign	Het
Ttc28	C	T	5: 111,085,092	S145F	probably damaging	Het
Txn2	G	A	15: 77,926,678	T102I	unknown	Het
Usp34	T	A	11: 23,426,183	V1908E		Het
Vmn2r101	A	G	17: 19,589,088	I160V	probably null	Het
Vmn2r104	A	T	17: 20,030,096	C638S	possibly damaging	Het
Wdfy4	C	T	14: 32,960,820	R3136Q		Het
Zan	C	A	5: 137,398,290	A4335S	unknown	Het
Zfp180	G	T	7: 24,104,533	V126F	probably benign	Het
Zfp429	T	A	13: 67,390,812	D171V	possibly damaging	Het
Zfp638	T	C	6: 83,954,726	I798T	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
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
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

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