Incidental Mutation 'R3797:Basp1'
ID 272813
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
MMRRC Submission 040758-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3797 (G1)
Quality Score 179
Status 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: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (39/39)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T C 5: 30,401,821 (GRCm39) I736V possibly damaging Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
B4galt1 G A 4: 40,807,258 (GRCm39) T376I probably benign Het
Capn5 C T 7: 97,775,036 (GRCm39) G535R probably null Het
Ccdc170 G A 10: 4,510,920 (GRCm39) V660I possibly damaging Het
Cdc73 A T 1: 143,553,461 (GRCm39) D215E probably benign Het
Clec14a G A 12: 58,314,695 (GRCm39) A309V probably benign Het
Clns1a G A 7: 97,346,042 (GRCm39) G36R probably benign Het
Cops7a C T 6: 124,936,795 (GRCm39) R252H probably damaging Het
Csmd2 C T 4: 128,411,388 (GRCm39) P2469S probably benign Het
Dsp T A 13: 38,361,260 (GRCm39) probably null Het
Eif3d A G 15: 77,852,769 (GRCm39) F4S probably damaging Het
Ephb1 T C 9: 101,848,466 (GRCm39) T611A probably damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fgfr1 G A 8: 26,062,453 (GRCm39) D663N probably damaging Het
Gm5592 G A 7: 40,807,259 (GRCm39) probably benign Het
Itgb8 T C 12: 119,127,204 (GRCm39) I683M possibly damaging Het
Kcnip3 A G 2: 127,323,934 (GRCm39) S32P probably benign Het
Limch1 A G 5: 67,126,422 (GRCm39) T8A probably damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Ltbp1 A G 17: 75,669,625 (GRCm39) Q1455R probably damaging Het
Mtarc2 T C 1: 184,573,505 (GRCm39) E131G possibly damaging Het
Or51v14 C T 7: 103,260,654 (GRCm39) R302Q probably benign Het
Pak5 T C 2: 135,942,746 (GRCm39) I465V probably benign Het
Pcdhgb8 T C 18: 37,895,728 (GRCm39) I266T probably benign Het
Pde4d T C 13: 109,769,431 (GRCm39) S40P probably benign Het
Phrf1 C T 7: 140,839,831 (GRCm39) R243* probably null Het
Polk A T 13: 96,623,490 (GRCm39) probably benign Het
Ppl T C 16: 4,922,414 (GRCm39) probably benign Het
Rab11fip3 A G 17: 26,287,500 (GRCm39) C218R possibly damaging Het
Setd2 T C 9: 110,378,639 (GRCm39) V818A probably benign Het
Skida1 C A 2: 18,050,708 (GRCm39) E815* probably null Het
Slc35g3 A G 11: 69,651,743 (GRCm39) F103L probably benign Het
Svil T A 18: 5,060,534 (GRCm39) C802S probably benign Het
Trim7 A G 11: 48,736,497 (GRCm39) probably null Het
Ugt3a1 G A 15: 9,310,727 (GRCm39) W336* probably null Het
Vmn2r72 T C 7: 85,387,285 (GRCm39) S760G probably benign Het
Vps13a T C 19: 16,723,311 (GRCm39) probably null Het
Wdfy4 A T 14: 32,862,602 (GRCm39) I590N probably damaging Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Xpnpep1 A T 19: 52,994,773 (GRCm39) V285D probably benign Het
Zfp934 T C 13: 62,665,702 (GRCm39) K313R probably benign 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
R3798:Basp1 UTSW 15 25,364,398 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGGGCAATACATATCCTCACTTC -3'
(R):5'- GGGCTACAATGTGAACGACG -3'

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