Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:Blnk'

360703

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Blnk

Ensembl Gene

ENSMUSG00000061132

Gene Name

B cell linker

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

40917371-40982664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40950873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 93 (D93N)

Ref Sequence

ENSEMBL: ENSMUSP00000112473 (fasta)

Gene Model

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

AlphaFold

Q9QUN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000054769
AA Change: D93N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: D93N

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 damaging
Transcript: ENSMUST00000117695
AA Change: D93N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: D93N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134568

Coding Region Coverage

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,045,293 (GRCm39)	F347I	possibly damaging	Het
Adcy5	A	G	16: 35,124,019 (GRCm39)	T1233A	probably benign	Het
Cadps2	T	C	6: 23,321,706 (GRCm39)	E1083G	probably damaging	Het
Capn8	C	A	1: 182,426,336 (GRCm39)	L224M	probably damaging	Het
Cdh4	A	T	2: 179,422,267 (GRCm39)	E130D	probably benign	Het
Cgn	G	A	3: 94,681,550 (GRCm39)	T515M	probably benign	Het
Chrna10	C	T	7: 101,761,469 (GRCm39)	G374D	probably benign	Het
Chrnb1	T	A	11: 69,686,506 (GRCm39)	Y38F	probably damaging	Het
Cyld	A	G	8: 89,471,525 (GRCm39)	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,853,645 (GRCm39)	F443S	probably benign	Het
Dctn1	C	A	6: 83,166,896 (GRCm39)	A152E	probably damaging	Het
Eml4	T	A	17: 83,748,791 (GRCm39)	Y228*	probably null	Het
Fbln2	T	A	6: 91,242,839 (GRCm39)	C846*	probably null	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gart	T	C	16: 91,420,345 (GRCm39)	S833G	possibly damaging	Het
Gda	T	C	19: 21,405,839 (GRCm39)		probably null	Het
Gjb5	C	T	4: 127,249,355 (GRCm39)	R263Q	probably benign	Het
Gtf2i	T	C	5: 134,315,558 (GRCm39)	K193E	probably damaging	Het
H4c14	C	A	3: 96,170,603 (GRCm39)	K6N	probably benign	Het
Ints1	C	T	5: 139,758,146 (GRCm39)	E244K	possibly damaging	Het
Kat14	G	A	2: 144,244,383 (GRCm39)	S412N	probably benign	Het
Kcnn3	A	T	3: 89,428,482 (GRCm39)	H236L	possibly damaging	Het
Kif15	T	A	9: 122,832,705 (GRCm39)	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,655,855 (GRCm39)	T7A	possibly damaging	Het
Lcp2	T	C	11: 34,021,033 (GRCm39)	S130P	probably damaging	Het
Ldha	T	A	7: 46,500,315 (GRCm39)	Y133*	probably null	Het
Lrp2	A	G	2: 69,337,080 (GRCm39)	C1231R	probably damaging	Het
Lrrn1	T	A	6: 107,544,313 (GRCm39)	V37D	probably damaging	Het
Mep1a	T	A	17: 43,788,112 (GRCm39)	H648L	probably benign	Het
Mmp25	C	T	17: 23,858,736 (GRCm39)	G272R	probably damaging	Het
Myh15	A	G	16: 48,965,801 (GRCm39)		probably benign	Het
Myl3	G	T	9: 110,597,059 (GRCm39)	E140*	probably null	Het
Nlrp4f	A	G	13: 65,332,856 (GRCm39)	S809P	probably damaging	Het
Nrde2	T	C	12: 100,110,394 (GRCm39)	I207M	probably null	Het
Or13a26	T	C	7: 140,285,046 (GRCm39)	L294P	probably damaging	Het
Or2y8	C	T	11: 52,035,637 (GRCm39)	C240Y	probably damaging	Het
Or5p54	T	C	7: 107,553,977 (GRCm39)	I43T	probably benign	Het
Paics	T	G	5: 77,110,320 (GRCm39)	V245G	probably damaging	Het
Pank1	A	G	19: 34,818,255 (GRCm39)	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,674,416 (GRCm39)	C167G	probably damaging	Het
Picalm	C	A	7: 89,840,957 (GRCm39)	T542K	possibly damaging	Het
Piezo1	A	G	8: 123,224,954 (GRCm39)	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,289,353 (GRCm39)	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,852,582 (GRCm39)	T634S	probably benign	Het
Rab32	T	C	10: 10,422,171 (GRCm39)	T183A	probably benign	Het
Rad18	T	C	6: 112,621,583 (GRCm39)	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,762,975 (GRCm39)	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,725 (GRCm39)	E101G	probably benign	Het
Rsf1	T	C	7: 97,310,434 (GRCm39)	L388P	probably damaging	Het
Scnn1g	A	G	7: 121,339,588 (GRCm39)	Y129C	probably damaging	Het
Slc7a13	G	A	4: 19,839,387 (GRCm39)	C330Y	probably benign	Het
Spock1	A	T	13: 57,735,486 (GRCm39)	V101E	probably damaging	Het
Sympk	T	A	7: 18,787,198 (GRCm39)	W1029R	probably damaging	Het
Syne2	T	A	12: 75,992,150 (GRCm39)	H2008Q	possibly damaging	Het
Tgs1	T	A	4: 3,585,719 (GRCm39)	Y199N	probably damaging	Het
Trim10	T	A	17: 37,188,228 (GRCm39)	C481*	probably null	Het
Vmn2r102	A	G	17: 19,898,170 (GRCm39)	E395G	probably damaging	Het
Wfs1	A	C	5: 37,125,013 (GRCm39)	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,044,193 (GRCm39)	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,796,775 (GRCm39)	H721R	probably damaging	Het
Zfta	C	A	19: 7,397,787 (GRCm39)	N111K	possibly 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
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
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

Posted On

2015-12-18