Incidental Mutation 'IGL02146:Blk'
ID281778
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 #IGL02146
Quality Score
Status
Chromosome14
Chromosomal Location63372836-63417037 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 63374199 bp
ZygosityHeterozygous
Amino Acid Change Proline to Histidine at position 429 (P429H)
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 damaging
Transcript: ENSMUST00000014597
AA Change: P429H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014597
Gene: ENSMUSG00000014453
AA Change: P429H

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,256,740 C784R possibly damaging Het
Akp3 A T 1: 87,126,575 D278V probably benign Het
Atxn7l1 G T 12: 33,368,031 R730S probably benign Het
Bag6 A G 17: 35,136,215 T30A probably damaging Het
Bmp2k T A 5: 97,064,830 M524K unknown Het
Bst1 T A 5: 43,826,336 H221Q probably damaging Het
Ces2g T C 8: 104,966,944 I419T possibly damaging Het
Cnep1r1 T C 8: 88,129,698 V34A probably benign Het
Ctnnbl1 A G 2: 157,819,494 E308G probably damaging Het
Cyp20a1 A T 1: 60,371,251 K237I possibly damaging Het
Dlg5 T C 14: 24,202,361 T104A probably damaging Het
Dnah9 C T 11: 65,927,700 V3271M probably damaging Het
Eed T A 7: 89,969,595 N204Y possibly damaging Het
Fat3 A G 9: 15,999,582 V1708A probably benign Het
Fcrl6 T C 1: 172,598,697 T178A probably benign Het
Galnt4 A C 10: 99,109,701 K429N possibly damaging Het
Ints6 T A 14: 62,759,260 T94S possibly damaging Het
Iqsec3 A T 6: 121,383,957 S981T probably damaging Het
Itga9 T A 9: 118,834,332 S146T possibly damaging Het
Itpr3 A G 17: 27,117,275 Y2325C probably damaging Het
Kng2 T A 16: 22,987,832 Q539L probably damaging Het
Lmtk3 T A 7: 45,794,947 probably benign Het
Lrrc6 C T 15: 66,489,525 W42* probably null Het
Lrrc6 C A 15: 66,489,526 W42L probably benign Het
Map1a T C 2: 121,299,446 Y248H probably damaging Het
Mroh1 A G 15: 76,434,679 probably benign Het
Mroh2b T C 15: 4,951,294 probably null Het
Myo18b A T 5: 112,843,285 M942K probably damaging Het
Myzap T A 9: 71,564,448 T94S probably benign Het
Nebl C A 2: 17,348,868 R957S probably damaging Het
Nexn A T 3: 152,247,248 D278E probably benign Het
Nlgn1 A T 3: 25,912,682 N222K probably damaging Het
Olfr26 G A 9: 38,855,358 A99T probably benign Het
Olfr809 T A 10: 129,776,858 probably benign Het
Osbpl6 A T 2: 76,549,750 R79S possibly damaging Het
Phip T C 9: 82,881,718 I1268M probably benign Het
Pkd2 G T 5: 104,489,291 R590L probably damaging Het
Reg2 G A 6: 78,405,585 probably benign Het
Scaf1 A T 7: 45,013,510 D26E probably damaging Het
Ska1 A G 18: 74,196,910 I253T possibly damaging Het
Slc11a2 T C 15: 100,401,288 N443D probably damaging Het
Slc6a12 A T 6: 121,353,501 T155S probably benign Het
Slit3 A G 11: 35,234,848 K118R possibly damaging Het
Snap23 T G 2: 120,599,311 N212K probably damaging Het
Snx13 T A 12: 35,101,079 D346E probably benign Het
Sumf1 C A 6: 108,173,431 probably null Het
Susd2 T C 10: 75,638,433 N479S possibly damaging Het
Tiam1 A G 16: 89,849,681 I821T probably benign Het
Tll2 C A 19: 41,097,837 V651L probably benign Het
Vmn2r1 A G 3: 64,104,683 D655G probably benign Het
Vmn2r72 T C 7: 85,737,962 Y798C probably damaging Het
Vps13b A C 15: 35,646,333 I1528L probably benign Het
Wdtc1 G A 4: 133,301,765 L337F probably benign Het
Zfp128 A C 7: 12,890,032 K109T possibly damaging Het
Other mutations in Blk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Blk APN 14 63380720 missense probably damaging 1.00
IGL02684:Blk APN 14 63379694 missense probably benign 0.17
blaenka UTSW 14 63384002 missense probably damaging 1.00
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