Incidental Mutation 'IGL01783:Basp1'
ID154208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Basp1
Ensembl Gene ENSMUSG00000045763
Gene Namebrain abundant, membrane attached signal protein 1
SynonymsCkap3, CAP-23, 2610024P12Rik, CAP23
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01783
Quality Score
Status
Chromosome15
Chromosomal Location25363277-25413764 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25364867 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 15 (N15D)
Ref Sequence ENSEMBL: ENSMUSP00000154675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058845] [ENSMUST00000228597]
Predicted Effect unknown
Transcript: ENSMUST00000058845
AA Change: N15D
SMART Domains Protein: ENSMUSP00000053943
Gene: ENSMUSG00000045763
AA Change: N15D

DomainStartEndE-ValueType
Pfam:BASP1 2 226 5.2e-73 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000228597
AA Change: N15D
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 membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality, hyperactivity, decreased body weight, and defects in neurite axon outgrowth, Schwann cell morphology, and brain ventricle size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 9,987,900 Y166H possibly damaging Het
Abi3bp G A 16: 56,532,969 probably null Het
Actrt3 T C 3: 30,598,475 T157A probably benign Het
Adam26b T C 8: 43,521,761 K68R probably benign Het
Adgrg7 A G 16: 56,747,919 probably null Het
Ano6 T C 15: 95,962,262 I755T possibly damaging Het
Bod1l T C 5: 41,808,712 N2670S probably benign Het
Btbd3 T A 2: 138,283,736 I280N probably damaging Het
Cdh16 T A 8: 104,617,856 Y17F probably damaging Het
Clmp G T 9: 40,782,407 G307W possibly damaging Het
Clrn2 C A 5: 45,460,161 Q125K probably benign Het
Ctnna3 C T 10: 63,820,469 A276V possibly damaging Het
Dram2 A T 3: 106,573,656 T172S possibly damaging Het
Dync2h1 G A 9: 7,118,822 probably benign Het
Ezr T C 17: 6,742,489 probably benign Het
Gbe1 T C 16: 70,401,855 probably null Het
Gbe1 T A 16: 70,478,369 D352E probably damaging Het
Gpr18 T A 14: 121,912,377 M79L probably benign Het
Gss T C 2: 155,571,559 Y196C probably damaging Het
Gtpbp1 T C 15: 79,716,197 S444P probably damaging Het
Hecw1 C T 13: 14,278,293 R712K probably damaging Het
Helz2 T G 2: 181,232,881 D1940A probably damaging Het
Hmcn1 A T 1: 150,615,300 V4166E possibly damaging Het
Klkb1 T C 8: 45,276,391 Y297C probably damaging Het
Krt75 T A 15: 101,564,929 I537F probably benign Het
Lrp1b T A 2: 41,312,572 T1176S probably damaging Het
Nid2 T C 14: 19,768,677 L413P probably benign Het
Olfr1086 A G 2: 86,677,081 V84A probably benign Het
Olfr1122 T A 2: 87,387,843 M46K possibly damaging Het
Olfr1122 G T 2: 87,387,838 L44F probably benign Het
Olfr1206 T C 2: 88,864,842 L79P probably damaging Het
Piwil1 A G 5: 128,743,826 N272D probably benign Het
Ppfia3 T C 7: 45,360,057 probably null Het
Prkg1 A G 19: 30,624,689 V389A probably damaging Het
Sema3a C A 5: 13,561,800 S344R probably damaging Het
Serpina3j T C 12: 104,318,491 L309P probably damaging Het
Slc15a1 A G 14: 121,471,276 probably null Het
Sp8 G T 12: 118,849,024 A205S probably benign Het
Speer4a T A 5: 26,035,047 Q235L possibly damaging Het
St6gal1 A G 16: 23,321,555 T159A probably benign Het
Tbrg1 G T 9: 37,654,300 P119T possibly damaging Het
Tmem59l T C 8: 70,487,224 T32A probably damaging Het
Trmt13 G A 3: 116,582,912 R277* probably null Het
Zfp316 A G 5: 143,262,876 F205S unknown Het
Zfp418 G T 7: 7,181,449 W137L possibly damaging Het
Zp3r A T 1: 130,598,866 V200D possibly damaging Het
Other mutations in Basp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0573:Basp1 UTSW 15 25364862 missense unknown
R3796:Basp1 UTSW 15 25364312 unclassified probably benign
R3797:Basp1 UTSW 15 25364312 unclassified probably benign
R3798:Basp1 UTSW 15 25364312 unclassified probably benign
Posted On2014-02-04