Incidental Mutation 'IGL01603:Baiap2l1'
ID 92237
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 # IGL01603
Quality Score
Status
Chromosome 5
Chromosomal Location 144201336-144294922 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 144217625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055190] [ENSMUST00000155491]
AlphaFold Q9DBJ3
Predicted Effect probably benign
Transcript: ENSMUST00000055190
SMART Domains Protein: ENSMUSP00000053129
Gene: ENSMUSG00000038859

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198873
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l T A 17: 32,564,327 (GRCm39) D20V probably damaging Het
Akr1c12 A G 13: 4,322,926 (GRCm39) probably null Het
Baz2a T C 10: 127,947,037 (GRCm39) F184L probably damaging Het
Cadps T C 14: 12,454,154 (GRCm38) probably benign Het
Cbr4 A T 8: 61,956,245 (GRCm39) *237Y probably null Het
Cln3 T G 7: 126,174,526 (GRCm39) N275T probably benign Het
Csf1r A G 18: 61,262,373 (GRCm39) E823G probably damaging Het
Ctr9 C A 7: 110,648,538 (GRCm39) A726D probably damaging Het
Def6 C T 17: 28,438,714 (GRCm39) probably benign Het
Dock4 T A 12: 40,743,030 (GRCm39) I395N probably damaging Het
Eln T C 5: 134,747,894 (GRCm39) probably benign Het
Fasn A T 11: 120,706,891 (GRCm39) H920Q probably damaging Het
Glb1l3 A G 9: 26,770,832 (GRCm39) I78T probably damaging Het
Gm7275 A T 16: 47,893,942 (GRCm39) noncoding transcript Het
Grm5 A C 7: 87,252,386 (GRCm39) Y212S probably damaging Het
Gtf2ird2 T C 5: 134,231,129 (GRCm39) probably benign Het
Gucy1b1 A G 3: 81,942,175 (GRCm39) V528A probably damaging Het
Hspg2 G A 4: 137,280,114 (GRCm39) A3168T probably damaging Het
Kcnj6 A G 16: 94,634,058 (GRCm39) S18P probably benign Het
Kcnq5 T A 1: 21,575,564 (GRCm39) K294I possibly damaging Het
Lama4 G A 10: 38,941,642 (GRCm39) G693E possibly damaging Het
Ldb1 A T 19: 46,024,014 (GRCm39) I124K probably damaging Het
Lrrfip1 C T 1: 91,043,635 (GRCm39) T680I probably benign Het
Lypd10 T A 7: 24,411,954 (GRCm39) W45R probably damaging Het
Map3k19 T A 1: 127,758,010 (GRCm39) D186V possibly damaging Het
Mrgprx2 T C 7: 48,132,374 (GRCm39) Y148C probably damaging Het
Muc4 G A 16: 32,569,473 (GRCm39) A178T probably benign Het
Mylip A C 13: 45,543,479 (GRCm39) E16A probably benign Het
Nek9 A G 12: 85,352,379 (GRCm39) F828S probably damaging Het
Obscn A G 11: 58,928,631 (GRCm39) F6012L probably damaging Het
Or14a257 A G 7: 86,138,139 (GRCm39) S207P possibly damaging Het
Or2o1 A C 11: 49,051,438 (GRCm39) D199A probably damaging Het
Or5p54 A G 7: 107,554,580 (GRCm39) Y244C possibly damaging Het
Pcid2 T A 8: 13,129,936 (GRCm39) K273N possibly damaging Het
Plekhm3 C T 1: 64,960,991 (GRCm39) D422N probably damaging Het
Prr12 T C 7: 44,692,909 (GRCm39) H1541R probably damaging Het
Psg26 A C 7: 18,209,028 (GRCm39) V460G probably damaging Het
Rbmxl1 G A 8: 79,232,459 (GRCm39) R295* probably null Het
Sbf1 A T 15: 89,187,481 (GRCm39) V690E probably damaging Het
Serpinb2 T A 1: 107,449,910 (GRCm39) S108T probably benign Het
Sin3b T C 8: 73,476,692 (GRCm39) Y709H probably damaging Het
Slc17a5 A G 9: 78,481,989 (GRCm39) W160R probably damaging Het
Spef2 T A 15: 9,704,466 (GRCm39) D449V probably damaging Het
Tas2r108 C A 6: 40,470,720 (GRCm39) N65K possibly damaging Het
Tex15 T A 8: 34,063,575 (GRCm39) F1002I possibly damaging Het
Trpm5 G A 7: 142,629,338 (GRCm39) S942L probably benign Het
Tspan5 T C 3: 138,596,517 (GRCm39) S52P probably damaging Het
Uqcrfs1 T C 13: 30,725,181 (GRCm39) T120A probably benign Het
Usp6nl T C 2: 6,428,246 (GRCm39) F193L probably damaging Het
Vmn2r26 T A 6: 124,030,833 (GRCm39) C523S probably damaging Het
Wfdc2 C T 2: 164,405,979 (GRCm39) P92S probably benign Het
Zbtb18 A T 1: 177,275,549 (GRCm39) H303L probably benign Het
Zfp174 A T 16: 3,672,153 (GRCm39) H234L probably benign Het
Zmynd12 T C 4: 119,299,117 (GRCm39) probably null Het
Other mutations in Baiap2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00789:Baiap2l1 APN 5 144,222,879 (GRCm39) splice site probably null
IGL00789:Baiap2l1 APN 5 144,222,356 (GRCm39) nonsense 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
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 2013-12-09