Incidental Mutation 'IGL01286:Blnk'
ID72726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Blnk
Ensembl Gene ENSMUSG00000061132
Gene NameB cell linker
SynonymsBASH, Bca, SLP-65, BCA, BLNK, Ly-57, Ly57
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL01286
Quality Score
Status
Chromosome19
Chromosomal Location40928927-40994535 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40934506 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 389 (K389R)
Ref Sequence ENSEMBL: ENSMUSP00000112473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054769] [ENSMUST00000117695]
Predicted Effect probably benign
Transcript: ENSMUST00000054769
AA Change: K392R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: K392R

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000117695
AA Change: K389R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: K389R

DomainStartEndE-ValueType
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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,629,578 C214S possibly damaging Het
5430419D17Rik A T 7: 131,246,703 N862I probably damaging Het
Ankrd26 A T 6: 118,559,107 V122E probably damaging Het
Cdh11 T A 8: 102,664,629 Q325L probably damaging Het
Cep112 T C 11: 108,859,409 probably null Het
Cmtr2 T A 8: 110,222,852 I598N possibly damaging Het
Col1a2 A C 6: 4,533,891 E857D unknown Het
Col2a1 G A 15: 97,994,878 P305L unknown Het
Commd2 G A 3: 57,650,722 T66M probably benign Het
Cyp2c50 A T 19: 40,092,284 K241N probably benign Het
Fbxo2 A G 4: 148,165,706 N231S probably benign Het
Grm5 T C 7: 87,602,565 S8P probably benign Het
Ip6k1 A G 9: 108,045,883 T405A probably benign Het
Kel G T 6: 41,688,117 probably null Het
Lin54 T C 5: 100,485,607 T73A probably benign Het
Nek1 T A 8: 61,124,216 V1077D possibly damaging Het
Olfr1184 T A 2: 88,487,248 I172K probably damaging Het
Olfr782 T A 10: 129,350,650 L29H probably damaging Het
Pcid2 T C 8: 13,090,660 D155G probably damaging Het
Ptchd1 T C X: 155,574,824 T462A possibly damaging Het
Pxdn A G 12: 29,982,754 E179G probably benign Het
Rfc2 T C 5: 134,589,389 L82P probably damaging Het
Sh3rf2 T C 18: 42,139,611 probably null Het
Sis A T 3: 72,941,025 W639R probably damaging Het
Tbcd T C 11: 121,493,893 probably null Het
Tert G A 13: 73,628,297 R389H possibly damaging Het
Tns3 C T 11: 8,492,617 S582N probably benign Het
Tssk2 C T 16: 17,898,958 T75I probably benign Het
Txnl4a C T 18: 80,218,741 T64I probably benign Het
Xpot T C 10: 121,602,338 D782G probably benign Het
Other mutations in Blnk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Blnk APN 19 40934446 missense probably benign 0.15
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 unclassified probably benign
busy UTSW 19 40952391 nonsense
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
Posted OnOct 07, 2013