Incidental Mutation 'IGL02090:Blnk'
ID 279421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Blnk
Ensembl Gene ENSMUSG00000061132
Gene Name B cell linker
Synonyms BASH, Bca, SLP-65, BCA, BLNK, Ly-57, Ly57
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock # IGL02090
Quality Score
Status
Chromosome 19
Chromosomal Location 40928927-40994535 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40934485 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 396 (V396A)
Ref Sequence ENSEMBL: ENSMUSP00000112473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054769] [ENSMUST00000117695]
AlphaFold Q9QUN3
Predicted Effect probably benign
Transcript: ENSMUST00000054769
AA Change: V399A

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000057844
Gene: ENSMUSG00000061132
AA Change: V399A

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: V396A

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112473
Gene: ENSMUSG00000061132
AA Change: V396A

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 A G X: 164,185,705 T482A probably damaging Het
Adh1 T C 3: 138,282,785 I173T possibly damaging Het
Apoa1 T C 9: 46,229,250 S60P possibly damaging Het
Borcs8 A G 8: 70,166,380 D204G probably damaging Het
Cbfa2t2 A G 2: 154,531,416 probably benign Het
Cdkal1 T G 13: 29,517,510 I319L probably benign Het
Celsr1 T A 15: 85,907,721 T2560S possibly damaging Het
Chd8 A G 14: 52,227,234 probably null Het
Cyp4f39 T C 17: 32,470,958 probably benign Het
Dnah10 A G 5: 124,789,812 N2265S probably damaging Het
Dnah5 C T 15: 28,240,041 probably benign Het
Epgn G A 5: 91,033,957 G133E probably damaging Het
Fam26e G A 10: 34,096,265 P58L probably damaging Het
Fdx1l C A 9: 21,073,470 V13F probably benign Het
Gabarapl2 A G 8: 111,941,199 Y25C probably damaging Het
Gigyf1 G A 5: 137,525,564 probably null Het
Gm6040 G A 8: 20,917,153 probably benign Het
Gm8229 T C 14: 44,366,597 L81P unknown Het
Gstz1 A G 12: 87,163,754 E137G probably benign Het
Htra1 T C 7: 130,936,378 V36A probably benign Het
Ifnlr1 T C 4: 135,705,267 V338A probably benign Het
Igsf8 A G 1: 172,312,589 probably benign Het
Khdc1a T A 1: 21,350,988 F132L probably benign Het
Kifc3 G A 8: 95,102,480 S561L probably damaging Het
Mpi T C 9: 57,550,653 T89A probably benign Het
Ncor2 A T 5: 125,034,403 M1281K probably damaging Het
Olfr1222 T C 2: 89,125,677 N18S probably benign Het
Olfr1299 G T 2: 111,664,988 C254F probably damaging Het
Olfr792 T C 10: 129,541,307 Y257H probably damaging Het
Olfr806 T A 10: 129,738,312 I202L probably benign Het
Otog G A 7: 46,300,147 G2403D probably damaging Het
Pdgfb C A 15: 80,013,983 A6S probably benign Het
Pfkm T C 15: 98,123,240 probably null Het
Plcb4 A G 2: 135,947,121 M274V probably benign Het
Ppm1m A G 9: 106,196,802 probably null Het
Rptn A G 3: 93,396,734 D458G possibly damaging Het
Sertad3 C T 7: 27,476,525 S128F probably benign Het
Sgo2b A T 8: 63,927,089 L903Q probably damaging Het
Slc15a5 C T 6: 138,043,600 R245H probably benign Het
Slc24a5 A T 2: 125,068,298 T40S probably benign Het
Smchd1 T C 17: 71,431,253 N539S possibly damaging Het
Tlr11 A G 14: 50,363,032 D825G probably damaging Het
Top3b T G 16: 16,891,470 V674G possibly damaging Het
Urb2 G A 8: 124,028,237 V228I probably benign Het
Usp24 C T 4: 106,411,426 A2061V possibly damaging Het
Wdr72 C A 9: 74,154,930 H453N possibly damaging Het
Xkr9 T C 1: 13,701,376 M372T probably damaging Het
Zc3h12d T G 10: 7,867,332 S289A probably benign Het
Zfp607b A T 7: 27,698,715 M75L possibly damaging Het
Other mutations in Blnk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Blnk APN 19 40934446 missense probably benign 0.15
IGL01286:Blnk APN 19 40934506 missense probably benign 0.00
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
Augen UTSW 19 40929291 missense probably damaging 1.00
Blick UTSW 19 40934459 missense probably damaging 1.00
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
R7560:Blnk UTSW 19 40952390 missense possibly damaging 0.94
R7797:Blnk UTSW 19 40959788 missense possibly damaging 0.51
R8287:Blnk UTSW 19 40929291 missense probably damaging 1.00
R8473:Blnk UTSW 19 40952410 missense possibly damaging 0.81
R8798:Blnk UTSW 19 40962351 missense probably damaging 1.00
R9094:Blnk UTSW 19 40994039 missense probably benign 0.39
R9139:Blnk UTSW 19 40934518 missense probably benign 0.00
Posted On 2015-04-16