Incidental Mutation 'R3798:Basp1'
ID 272854
Institutional Source Beutler Lab
Gene Symbol Basp1
Ensembl Gene ENSMUSG00000045763
Gene Name brain abundant, membrane attached signal protein 1
Synonyms 2610024P12Rik, CAP23, CAP-23, Ckap3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3798 (G1)
Quality Score 180
Status Not validated
Chromosome 15
Chromosomal Location 25363363-25413850 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 25364398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058845] [ENSMUST00000228597]
AlphaFold Q91XV3
Predicted Effect unknown
Transcript: ENSMUST00000058845
AA Change: A200S
SMART Domains Protein: ENSMUSP00000053943
Gene: ENSMUSG00000045763
AA Change: A200S

DomainStartEndE-ValueType
Pfam:BASP1 2 226 5.2e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228597
Meta Mutation Damage Score 0.1509 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T A 7: 131,033,694 (GRCm39) V237E probably damaging Het
Adgrf3 T C 5: 30,401,821 (GRCm39) I736V possibly damaging Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Bbs9 T C 9: 22,550,065 (GRCm39) S21P probably damaging Het
Btbd16 A G 7: 130,378,870 (GRCm39) N5D probably benign Het
Csmd2 C T 4: 128,411,388 (GRCm39) P2469S probably benign Het
Cyld T C 8: 89,461,558 (GRCm39) L662P probably damaging Het
Eif2ak4 C T 2: 118,304,564 (GRCm39) R1530C probably damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Ip6k3 T C 17: 27,364,080 (GRCm39) I323V probably benign Het
Itpr1 T C 6: 108,358,231 (GRCm39) L599P probably damaging Het
Lancl1 G A 1: 67,073,303 (GRCm39) T60I probably damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lrrc8d T A 5: 105,960,355 (GRCm39) I255N probably benign Het
Ndst1 A G 18: 60,846,238 (GRCm39) F24L possibly damaging Het
Notch1 A T 2: 26,368,630 (GRCm39) V553E probably benign Het
Nsd3 T A 8: 26,188,873 (GRCm39) W69R probably damaging Het
Or2g25 T A 17: 37,970,997 (GRCm39) I76F probably damaging Het
Pcm1 T C 8: 41,711,051 (GRCm39) I107T possibly damaging Het
Pcnx3 G A 19: 5,728,696 (GRCm39) Q422* probably null Het
Phrf1 C T 7: 140,839,831 (GRCm39) R243* probably null Het
Ptbp3 T C 4: 59,546,166 (GRCm39) I9V probably benign Het
Sacs T C 14: 61,443,570 (GRCm39) V1872A possibly damaging Het
Slc35g3 A G 11: 69,651,743 (GRCm39) F103L probably benign Het
Slx4ip T A 2: 136,909,543 (GRCm39) D109E probably benign Het
Tas2r118 T C 6: 23,969,822 (GRCm39) K80E possibly damaging Het
Ttn T C 2: 76,725,087 (GRCm39) probably benign Het
Vmn2r72 T C 7: 85,387,285 (GRCm39) S760G probably benign Het
Vmn2r79 A G 7: 86,651,402 (GRCm39) Y267C possibly damaging Het
Wdr90 T C 17: 26,069,472 (GRCm39) S1194G probably benign Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Other mutations in Basp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01783:Basp1 APN 15 25,364,953 (GRCm39) missense unknown
R0573:Basp1 UTSW 15 25,364,948 (GRCm39) missense unknown
R3796:Basp1 UTSW 15 25,364,398 (GRCm39) unclassified probably benign
R3797:Basp1 UTSW 15 25,364,398 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GGGCAATACATATCCTCACTTCC -3'
(R):5'- GGGCTACAATGTGAACGACG -3'

Sequencing Primer
(F):5'- TCCTCACTTCCAATTTGAAACAAG -3'
(R):5'- ACGCCACCGAGGTCAAG -3'
Posted On 2015-03-25