Mutagenetix > Incidental Mutations

Incidental Mutation 'R7432:Blnk'

576606

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: 0.148) question?

Stock #

R7432 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40928927-40994535 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 40959857 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 123 (R123*)

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 null
Transcript: ENSMUST00000054769
AA Change: R123*

SMART Domains

Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: R123*

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
AA Change: R123*

SMART Domains

Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: R123*

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,518,839	I31V	probably benign	Het
Adamts17	A	G	7: 67,051,917	K40E		Het
Akr1c14	G	A	13: 4,088,952	D312N	probably benign	Het
Alg6	T	C	4: 99,753,058	V398A	probably benign	Het
Ankmy1	A	T	1: 92,896,079	M155K	probably benign	Het
Arid5b	C	A	10: 68,118,266	R396L	probably damaging	Het
Armt1	C	A	10: 4,432,706	D12E	probably benign	Het
Arrb2	T	A	11: 70,437,970	N217K	probably benign	Het
Atg2b	A	T	12: 105,661,204	L508Q	probably damaging	Het
Atg2b	A	T	12: 105,664,698	S323T	probably benign	Het
Atp1a3	G	A	7: 25,005,875		probably benign	Het
Atp6v0e	T	C	17: 26,682,698	V42A	probably benign	Het
Atp9b	A	G	18: 80,765,841	V621A		Het
Atrnl1	A	C	19: 57,755,524	D1186A	probably damaging	Het
Atxn2l	A	T	7: 126,493,874	M821K	possibly damaging	Het
Bud13	T	A	9: 46,287,074	S98T	probably benign	Het
Ccdc183	T	C	2: 25,609,457	M455V	probably benign	Het
Cd109	A	G	9: 78,714,943	Y1405C	possibly damaging	Het
Cdan1	A	T	2: 120,722,755	L989Q	probably damaging	Het
Clec16a	T	C	16: 10,688,555	I713T	possibly damaging	Het
Clta	T	A	4: 44,032,419	F168L	possibly damaging	Het
Cnnm1	A	T	19: 43,468,271	H583L	probably benign	Het
Cyp4f18	A	G	8: 71,996,062	Y248H	probably benign	Het
Dsg4	G	T	18: 20,446,266	G20*	probably null	Het
Dusp12	T	A	1: 170,879,776	K248*	probably null	Het
Fam102b	C	T	3: 109,003,407	A51T	probably damaging	Het
Fhod3	A	G	18: 25,001,909	D359G	possibly damaging	Het
Frmpd2	C	A	14: 33,507,553	F365L	probably damaging	Het
Gab1	A	G	8: 80,788,669	I340T	probably benign	Het
Gabpa	C	T	16: 84,857,520	Q362*	probably null	Het
Gcnt2	A	T	13: 40,887,212		probably benign	Het
Gm12728	T	A	4: 105,794,289	L32Q	probably damaging	Het
Gpatch4	A	G	3: 88,051,696	N35D	probably damaging	Het
Grid2	G	T	6: 64,275,870	V441L	possibly damaging	Het
H2-M2	A	G	17: 37,481,470		probably null	Het
Hip1r	T	C	5: 123,991,766	F180L	probably benign	Het
Ikbkap	C	T	4: 56,776,925	G624D	probably damaging	Het
Il17re	T	C	6: 113,462,371	F81L	probably benign	Het
Il3ra	T	C	14: 14,350,691	V235A	possibly damaging	Het
Krtap6-2	C	T	16: 89,419,873	G69S	unknown	Het
Lmln	T	C	16: 33,089,368	L373P	probably damaging	Het
Lmo7	C	A	14: 101,902,115	Q945K	probably benign	Het
Loxhd1	G	T	18: 77,295,851	V149L	possibly damaging	Het
Lrrc73	T	C	17: 46,255,783		probably null	Het
Mapkapk5	G	A	5: 121,537,171	H112Y	possibly damaging	Het
Maz	A	G	7: 127,023,048	V467A	probably benign	Het
Med13l	T	G	5: 118,751,938	V1884G	probably damaging	Het
Nlrp12	A	C	7: 3,222,539	N1033K	probably benign	Het
Nos3	T	A	5: 24,367,615	V184E	probably damaging	Het
Npr2	T	C	4: 43,647,155	V737A	probably damaging	Het
Nsd1	A	G	13: 55,213,374	T52A	probably benign	Het
Obscn	C	T	11: 59,028,907	R108Q		Het
Olfr1093	G	T	2: 86,786,221	G164*	probably null	Het
Olfr1265	A	T	2: 90,037,184	K88N	probably damaging	Het
Olfr1300-ps1	A	G	2: 111,692,056	*179W	probably null	Het
Olfr153	T	C	2: 87,532,440	S136P	probably damaging	Het
Olfr460	C	A	6: 40,572,306	R307S	probably benign	Het
Olfr814	T	C	10: 129,873,850	I302M	probably benign	Het
Ovol2	A	G	2: 144,317,872	V116A	probably benign	Het
Pcdha5	C	A	18: 36,962,326	S629R	probably benign	Het
Pde4dip	T	A	3: 97,695,092	M2274L	probably benign	Het
Pdpk1	T	C	17: 24,101,669	T185A	probably benign	Het
Pip5k1a	T	G	3: 95,074,120	T67P	probably benign	Het
Plat	G	T	8: 22,773,651	V189F	probably damaging	Het
Ppm1a	C	T	12: 72,784,142	S147L	probably damaging	Het
Prim1	T	A	10: 128,016,016	D52E	probably damaging	Het
Prkab1	C	G	5: 116,024,162	D30H	possibly damaging	Het
Psma6	A	T	12: 55,398,828		probably benign	Het
Psmd2	T	A	16: 20,654,925	M196K	probably damaging	Het
Ralgapa2	G	T	2: 146,434,856	T488K	probably benign	Het
Rapgefl1	A	G	11: 98,851,114	K635E	probably damaging	Het
Rasgrp1	T	C	2: 117,287,943	I522V	probably damaging	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rgs11	G	A	17: 26,207,760	V289M	probably damaging	Het
Scmh1	T	C	4: 120,529,156	L631P	probably damaging	Het
Sema3e	T	G	5: 14,224,390	D218E	probably damaging	Het
Sh3rf2	T	C	18: 42,054,026	V70A	probably damaging	Het
Slc12a1	G	T	2: 125,206,040	V801L	probably benign	Het
Slc25a51	C	G	4: 45,399,765	A142P	possibly damaging	Het
Slc41a1	C	T	1: 131,830,956	T112I	probably damaging	Het
Slc44a2	T	C	9: 21,343,215	M264T	probably benign	Het
Snapc1	T	A	12: 73,968,294	M134K	probably benign	Het
Snrk	T	C	9: 122,157,210	F215S	probably damaging	Het
Stab2	T	C	10: 86,885,683	E1526G	probably damaging	Het
Tbc1d10a	C	A	11: 4,213,016	Y260*	probably null	Het
Tdrd5	A	T	1: 156,302,432	L56Q	probably damaging	Het
Tenm2	T	C	11: 36,864,941	T77A	probably benign	Het
Tmprss11g	T	G	5: 86,496,507	R159S	possibly damaging	Het
Traj38	T	A	14: 54,180,577	N1K		Het
Trove2	T	C	1: 143,765,810	I304M	probably benign	Het
Ttn	A	G	2: 76,766,287	I20094T	possibly damaging	Het
Ubr4	T	C	4: 139,388,382	L64P	probably damaging	Het
Utp20	C	T	10: 88,798,398	R812Q	probably benign	Het
Vmn2r57	C	A	7: 41,426,724	V455L	probably benign	Het
Wdcp	T	C	12: 4,850,246	V34A	probably damaging	Het
Zfp27	C	T	7: 29,895,359	V394I	probably benign	Het
Zfp512b	T	C	2: 181,589,856	H177R	probably benign	Het
Zfp648	T	A	1: 154,205,037	M314K	possibly damaging	Het
Zfp811	T	C	17: 32,798,759	I102M	possibly damaging	Het
Zkscan6	A	G	11: 65,814,363		probably null	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
R7101:Blnk	UTSW	19	40972638	missense	probably benign	0.01
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'- TCACCTTGAGGGACTTGGAG -3'
(R):5'- CAGTCGACAGTTTATGCTTTCTG -3'

Sequencing Primer
(F):5'- CCTTGAGGGACTTGGAGGACAG -3'
(R):5'- TGTCTACCTGTTGACTTGGC -3'

Posted On

2019-10-07