Incidental Mutation 'IGL00789:Baiap2l1'
ID 9192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Baiap2l1
Ensembl Gene ENSMUSG00000038859
Gene Name BAI1-associated protein 2-like 1
Synonyms 1300006M19Rik, IRTKS
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00789
Quality Score
Status
Chromosome 5
Chromosomal Location 144201336-144294922 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 144222356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 133 (L133*)
Ref Sequence ENSEMBL: ENSMUSP00000053129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055190] [ENSMUST00000155491]
AlphaFold Q9DBJ3
PDB Structure Solution Structure of RSGI RUH-010, an SH3 Domain from Mouse cDNA [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000055190
AA Change: L133*
SMART Domains Protein: ENSMUSP00000053129
Gene: ENSMUSG00000038859
AA Change: L133*

DomainStartEndE-ValueType
Pfam:IMD 16 236 4.4e-65 PFAM
SH3 343 402 1.42e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129287
Predicted Effect probably benign
Transcript: ENSMUST00000155491
SMART Domains Protein: ENSMUSP00000122016
Gene: ENSMUSG00000047843

DomainStartEndE-ValueType
Pfam:DUF2367 27 90 1.1e-24 PFAM
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 member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased circulating glucose and insulin levels, impaired glucose tolerance and insulin resistance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cobll1 A T 2: 64,956,357 (GRCm39) D300E probably damaging Het
Cog5 T A 12: 31,810,951 (GRCm39) L215Q possibly damaging Het
Cyp4f39 C A 17: 32,689,886 (GRCm39) H111N probably damaging Het
Dync1i2 G A 2: 71,078,299 (GRCm39) probably benign Het
Gfm2 A G 13: 97,309,566 (GRCm39) probably benign Het
Ms4a13 T G 19: 11,162,478 (GRCm39) S80R probably damaging Het
Nipbl C T 15: 8,326,353 (GRCm39) V2419M probably damaging Het
Nup98 A G 7: 101,803,178 (GRCm39) V657A probably benign Het
Rab32 T C 10: 10,426,556 (GRCm39) N130S probably benign Het
Ranbp17 G A 11: 33,193,249 (GRCm39) T935I probably benign Het
Other mutations in Baiap2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00789:Baiap2l1 APN 5 144,222,879 (GRCm39) splice site probably null
IGL00922:Baiap2l1 APN 5 144,255,777 (GRCm39) missense probably damaging 1.00
IGL01446:Baiap2l1 APN 5 144,212,723 (GRCm39) missense probably benign 0.10
IGL01603:Baiap2l1 APN 5 144,217,625 (GRCm39) intron probably benign
IGL02748:Baiap2l1 APN 5 144,203,415 (GRCm39) intron probably benign
IGL03348:Baiap2l1 APN 5 144,215,341 (GRCm39) missense probably benign 0.08
PIT4382001:Baiap2l1 UTSW 5 144,215,480 (GRCm39) missense possibly damaging 0.71
R0066:Baiap2l1 UTSW 5 144,221,372 (GRCm39) missense probably damaging 1.00
R0066:Baiap2l1 UTSW 5 144,221,372 (GRCm39) missense probably damaging 1.00
R0110:Baiap2l1 UTSW 5 144,212,701 (GRCm39) missense probably damaging 1.00
R0197:Baiap2l1 UTSW 5 144,202,820 (GRCm39) missense probably damaging 0.96
R0469:Baiap2l1 UTSW 5 144,212,701 (GRCm39) missense probably damaging 1.00
R0744:Baiap2l1 UTSW 5 144,203,451 (GRCm39) missense probably benign 0.21
R0755:Baiap2l1 UTSW 5 144,221,367 (GRCm39) missense probably damaging 0.97
R0765:Baiap2l1 UTSW 5 144,214,513 (GRCm39) missense probably damaging 0.99
R1051:Baiap2l1 UTSW 5 144,222,943 (GRCm39) missense probably damaging 1.00
R1809:Baiap2l1 UTSW 5 144,261,365 (GRCm39) critical splice donor site probably null
R3889:Baiap2l1 UTSW 5 144,215,345 (GRCm39) missense possibly damaging 0.67
R4451:Baiap2l1 UTSW 5 144,215,362 (GRCm39) missense probably damaging 1.00
R5093:Baiap2l1 UTSW 5 144,215,363 (GRCm39) missense probably damaging 1.00
R5471:Baiap2l1 UTSW 5 144,218,951 (GRCm39) missense probably benign 0.01
R5523:Baiap2l1 UTSW 5 144,212,768 (GRCm39) missense probably damaging 1.00
R5524:Baiap2l1 UTSW 5 144,217,759 (GRCm39) missense probably benign 0.01
R5586:Baiap2l1 UTSW 5 144,218,949 (GRCm39) missense probably damaging 0.99
R5603:Baiap2l1 UTSW 5 144,202,787 (GRCm39) missense probably damaging 1.00
R5735:Baiap2l1 UTSW 5 144,223,112 (GRCm39) missense probably damaging 1.00
R6353:Baiap2l1 UTSW 5 144,218,898 (GRCm39) missense possibly damaging 0.80
R6572:Baiap2l1 UTSW 5 144,223,112 (GRCm39) missense probably damaging 1.00
R6619:Baiap2l1 UTSW 5 144,222,916 (GRCm39) missense probably benign 0.22
R6981:Baiap2l1 UTSW 5 144,222,389 (GRCm39) missense possibly damaging 0.94
R7218:Baiap2l1 UTSW 5 144,212,687 (GRCm39) missense probably benign 0.01
R7352:Baiap2l1 UTSW 5 144,261,436 (GRCm39) missense probably benign 0.03
R7662:Baiap2l1 UTSW 5 144,294,700 (GRCm39) intron probably benign
R7797:Baiap2l1 UTSW 5 144,255,760 (GRCm39) missense probably damaging 1.00
R7981:Baiap2l1 UTSW 5 144,294,700 (GRCm39) intron probably benign
R8170:Baiap2l1 UTSW 5 144,214,502 (GRCm39) nonsense probably null
R8308:Baiap2l1 UTSW 5 144,214,487 (GRCm39) missense probably benign 0.06
R8333:Baiap2l1 UTSW 5 144,217,691 (GRCm39) missense possibly damaging 0.89
R8673:Baiap2l1 UTSW 5 144,212,852 (GRCm39) intron probably benign
R8976:Baiap2l1 UTSW 5 144,223,117 (GRCm39) missense probably benign 0.03
R9187:Baiap2l1 UTSW 5 144,217,764 (GRCm39) missense probably benign 0.01
X0022:Baiap2l1 UTSW 5 144,215,462 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06