Mutagenetix > Incidental Mutations

Incidental Mutation 'R7560:Blnk'

585084

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: 0.193) question?

Stock #

R7560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40928927-40994535 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40952390 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 190 (I190F)

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

possibly damaging
Transcript: ENSMUST00000054769
AA Change: I190F

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: I190F

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: I190F

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: I190F

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

Meta Mutation Damage Score

0.0888

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (100/100)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,284,615	Y4187C	probably damaging	Het
Acot12	A	G	13: 91,784,391	D502G	probably benign	Het
Adrb1	T	C	19: 56,722,688	V106A	probably damaging	Het
Ahcyl2	G	T	6: 29,886,140	G352W	probably damaging	Het
Ahnak2	T	G	12: 112,779,674	D446A		Het
AI481877	T	C	4: 59,076,140	N601S	possibly damaging	Het
Arhgap42	T	C	9: 9,035,531	D270G	probably benign	Het
Atp2a1	A	G	7: 126,459,656	V129A	possibly damaging	Het
B9d2	G	A	7: 25,681,359		probably benign	Het
Bace1	A	T	9: 45,856,139	I207F	possibly damaging	Het
Bmp7	C	T	2: 172,939,964	E36K	possibly damaging	Het
Brsk2	A	G	7: 142,000,860	E654G	probably benign	Het
Cacna2d3	T	C	14: 29,058,421	H661R	probably benign	Het
Cdh4	T	C	2: 179,890,902	V719A	probably benign	Het
Cdkn2d	G	T	9: 21,289,244	P77H	probably damaging	Het
Chd3	A	G	11: 69,356,270	V1024A	probably damaging	Het
Chsy1	T	A	7: 66,171,244	M409K	possibly damaging	Het
Chsy1	T	C	7: 66,171,571	L518P	probably damaging	Het
Cic	G	A	7: 25,272,853	V670M	probably damaging	Het
Clock	A	T	5: 76,242,891		probably null	Het
Coro1a	C	A	7: 126,703,134	V14L	probably damaging	Het
Ctcfl	C	A	2: 173,118,406	C128F	probably damaging	Het
Cyb5b	A	G	8: 107,169,859	T71A	probably damaging	Het
Cyp2c40	C	G	19: 39,807,214	V174L	possibly damaging	Het
D630045J12Rik	T	A	6: 38,196,627	Q202L	possibly damaging	Het
Dgkz	T	C	2: 91,942,815		probably benign	Het
Dlgap2	T	C	8: 14,822,697		probably null	Het
Dnah1	T	C	14: 31,304,983	I695V	probably benign	Het
Dst	T	A	1: 34,182,451	S2445R	possibly damaging	Het
Elob	T	C	17: 23,824,976	D83G	probably benign	Het
Elp4	T	A	2: 105,794,588	D320V	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Etfdh	T	C	3: 79,623,579	Y45C	probably damaging	Het
Exph5	A	G	9: 53,375,773	I1385V	probably benign	Het
Fam104a	C	T	11: 113,663,389	G160D	probably damaging	Het
Fat3	A	T	9: 15,996,842	D2621E	probably damaging	Het
Fbxl6	G	T	15: 76,538,469	A83D	probably benign	Het
Fmo2	A	G	1: 162,888,749	Y90H	probably damaging	Het
Fzd4	T	A	7: 89,407,553	Y269*	probably null	Het
Grik5	T	A	7: 25,058,526	I377F	probably damaging	Het
Havcr2	C	A	11: 46,459,062	P137Q	probably damaging	Het
Hectd4	A	G	5: 121,254,342	N223S	possibly damaging	Het
Hmcn2	A	G	2: 31,457,173	S4792G	probably benign	Het
Hps3	T	G	3: 20,030,452	I191L	probably benign	Het
Ica1l	T	A	1: 60,010,210	K195*	probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 80,098,331		probably null	Het
Ift140	A	G	17: 25,092,341	D1170G	probably benign	Het
Igflr1	T	C	7: 30,567,351	F208S	possibly damaging	Het
Kcnma1	T	C	14: 23,530,242	T313A	probably benign	Het
Krt6a	T	A	15: 101,690,559	I524F	unknown	Het
Lce1d	G	T	3: 92,685,841	H88Q	unknown	Het
Lrmda	A	G	14: 22,828,702	E177G	probably benign	Het
Lrrn3	T	A	12: 41,452,713	N535I	possibly damaging	Het
Map2k4	T	A	11: 65,775,757	I40L	unknown	Het
Map7d1	A	G	4: 126,236,636	L459P	probably damaging	Het
Mipol1	A	T	12: 57,306,073	N66I	possibly damaging	Het
Mycn	A	C	12: 12,940,291	F35V	probably benign	Het
Mzt2	A	C	16: 15,862,805	M40R	possibly damaging	Het
N4bp2	T	G	5: 65,791,115	L363V	probably damaging	Het
Nfat5	T	A	8: 107,370,589	M1532K	probably benign	Het
Notch1	G	A	2: 26,460,165	T2321M	probably benign	Het
Nr1h4	T	C	10: 89,498,261	D89G	probably benign	Het
Nsun4	G	A	4: 116,051,494	T623I	possibly damaging	Het
Nup155	T	C	15: 8,155,047	S1309P	probably benign	Het
Olfr1100	T	C	2: 86,978,778	Y6C	probably benign	Het
Olfr1508	T	C	14: 52,463,394	N205S	probably damaging	Het
Olfr561	T	C	7: 102,781,682	S69P	probably damaging	Het
Pcsk5	A	G	19: 17,836,972	F61L	probably benign	Het
Phrf1	A	T	7: 141,231,225		probably null	Het
Pkd1	G	A	17: 24,573,631	E1431K	probably benign	Het
Pkd2	T	A	5: 104,480,353	I431N	probably damaging	Het
Plcb2	A	G	2: 118,715,643	L557P	probably damaging	Het
Poteg	A	G	8: 27,494,960	N449S	probably benign	Het
Ppargc1b	C	A	18: 61,312,210	G192W	probably damaging	Het
Rab13	T	C	3: 90,224,899	S178P	probably benign	Het
Ralgds	A	G	2: 28,547,595	D571G	probably damaging	Het
Ror2	A	G	13: 53,110,813	S748P	probably benign	Het
Sart1	A	T	19: 5,384,877	L167Q	probably damaging	Het
Sept12	A	G	16: 4,992,191	V160A	possibly damaging	Het
Sgo1	T	C	17: 53,679,267	S299G	probably benign	Het
Slc35b4	T	A	6: 34,163,361	D152V	probably benign	Het
Specc1	T	A	11: 62,128,409		probably null	Het
Synj1	G	A	16: 90,940,483	T1308I	probably benign	Het
Thap12	T	G	7: 98,710,231	L106V	probably damaging	Het
Togaram1	T	C	12: 65,011,142	M1501T	possibly damaging	Het
Top2a	G	T	11: 99,000,837	N1153K	probably benign	Het
Trpm5	A	G	7: 143,080,986	L658P	probably damaging	Het
Ttc21b	G	A	2: 66,217,204	A849V	possibly damaging	Het
Vmn1r80	A	T	7: 12,193,823	I287F	probably damaging	Het
Vmn1r87	T	C	7: 13,131,818	S181G	probably damaging	Het
Vmn2r71	A	T	7: 85,623,907	H643L	probably benign	Het
Washc5	G	A	15: 59,366,192	R228C	probably damaging	Het
Wdr72	T	C	9: 74,210,126	S719P	probably damaging	Het
Xrcc3	G	T	12: 111,807,902	D164E	probably benign	Het
Zc2hc1b	G	A	10: 13,168,785	R45C	probably damaging	Het
Zfp335	A	G	2: 164,895,992	Y900H	probably damaging	Het
Zfp512b	G	A	2: 181,587,082	R697C	probably damaging	Het
Zfp60	T	C	7: 27,749,136	Y410H	probably damaging	Het
Zfp60	T	A	7: 27,749,271	C455S	probably damaging	Het
Zfp605	C	T	5: 110,127,291	Q92*	probably null	Het
Zfp64	C	T	2: 168,925,665	D676N	probably damaging	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
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
R7432:Blnk	UTSW	19	40959857	nonsense	probably null
R7797:Blnk	UTSW	19	40959788	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GCCCAGTGCTTTTATAACCTG -3'
(R):5'- TGCCAAAAGGTACCCCATTG -3'

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

Posted On

2019-10-17