Incidental Mutation 'IGL02684:Blk'
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ID303490
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Blk
Ensembl Gene ENSMUSG00000014453
Gene NameB lymphoid kinase
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02684
Quality Score
Status
Chromosome14
Chromosomal Location63372836-63417037 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 63379694 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 288 (E288G)
Ref Sequence ENSEMBL: ENSMUSP00000014597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014597]
PDB Structure
NMR ENSEMBLE OF BLK SH2 DOMAIN, 20 STRUCTURES [SOLUTION NMR]
NMR ENSEMBLE OF BLK SH2 DOMAIN USING CHEMICAL SHIFT REFINEMENT, 20 STRUCTURES [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000014597
AA Change: E288G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000014597
Gene: ENSMUSG00000014453
AA Change: E288G

DomainStartEndE-ValueType
SH3 55 111 2.91e-18 SMART
SH2 116 205 1.32e-32 SMART
TyrKc 235 484 1.97e-127 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224965
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 nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygous mutation of this gene does not result in a phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A T 14: 35,810,063 L185* probably null Het
Actrt3 A T 3: 30,599,691 D53E probably benign Het
Ankrd34b T C 13: 92,438,508 S83P probably damaging Het
Asap1 A G 15: 64,094,169 V1029A probably benign Het
Cep192 T G 18: 67,834,563 V706G probably damaging Het
Chd2 T C 7: 73,475,349 K908E probably damaging Het
Dnm1l A T 16: 16,321,657 I391N possibly damaging Het
Fam84a T C 12: 14,150,645 D27G probably damaging Het
Fmn1 A G 2: 113,525,277 R688G unknown Het
Gdap2 A G 3: 100,171,020 D100G probably benign Het
Gm43638 T C 5: 87,462,910 I522V possibly damaging Het
Gm438 A G 4: 144,778,185 probably benign Het
Gsap A T 5: 21,242,803 probably null Het
Hoxd12 A G 2: 74,675,561 S159G probably benign Het
Ints7 A G 1: 191,613,637 probably null Het
Iqsec3 G A 6: 121,412,941 Q524* probably null Het
Klra10 T A 6: 130,281,882 H14L possibly damaging Het
Mettl15 T C 2: 109,131,580 E228G probably damaging Het
Olfr466 G A 13: 65,152,396 M57I probably damaging Het
Olfr624 T C 7: 103,670,384 M216V probably benign Het
Pabpc1l A G 2: 164,031,277 N156D probably benign Het
Pkhd1l1 G T 15: 44,516,209 probably null Het
Pm20d1 T A 1: 131,804,959 N345K probably benign Het
Rasgrp1 A G 2: 117,282,576 V785A probably benign Het
Sos2 A G 12: 69,596,666 L980S probably damaging Het
Stam2 A T 2: 52,719,935 H56Q probably damaging Het
Trpm6 T A 19: 18,802,207 probably benign Het
Trpm7 A T 2: 126,846,159 D249E probably damaging Het
Vmn1r203 A T 13: 22,524,369 T107S possibly damaging Het
Vmn2r55 A G 7: 12,670,960 L172P probably damaging Het
Vrtn A G 12: 84,650,149 R558G probably benign Het
Zfp977 A T 7: 42,583,015 D7E probably damaging Het
Other mutations in Blk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Blk APN 14 63380720 missense probably damaging 1.00
IGL02146:Blk APN 14 63374199 missense probably damaging 1.00
blaenka UTSW 14 63384002 missense probably damaging 1.00
BB009:Blk UTSW 14 63373559 missense not run
BB019:Blk UTSW 14 63373559 missense not run
R0254:Blk UTSW 14 63380804 missense probably benign 0.08
R0318:Blk UTSW 14 63374197 missense probably damaging 1.00
R1567:Blk UTSW 14 63380729 missense probably damaging 0.99
R1871:Blk UTSW 14 63375915 missense possibly damaging 0.72
R3719:Blk UTSW 14 63384002 missense probably damaging 1.00
R4606:Blk UTSW 14 63374203 missense probably benign 0.00
R4879:Blk UTSW 14 63375965 missense probably benign
R4935:Blk UTSW 14 63381262 missense possibly damaging 0.95
R5014:Blk UTSW 14 63379787 missense probably benign 0.00
R5352:Blk UTSW 14 63375971 missense probably damaging 1.00
R5406:Blk UTSW 14 63380731 missense probably damaging 1.00
R5514:Blk UTSW 14 63378481 missense probably damaging 0.99
R5518:Blk UTSW 14 63378507 missense possibly damaging 0.56
R6289:Blk UTSW 14 63375892 splice site probably null
R6743:Blk UTSW 14 63384926 missense probably benign
Posted On2015-04-16