Incidental Mutation 'R0573:Basp1'
ID 46551
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 038763-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0573 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 25363363-25413850 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25364948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 16 (D16E)
Ref Sequence ENSEMBL: ENSMUSP00000154675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058845] [ENSMUST00000228597]
AlphaFold Q91XV3
Predicted Effect unknown
Transcript: ENSMUST00000058845
AA Change: D16E
SMART Domains Protein: ENSMUSP00000053943
Gene: ENSMUSG00000045763
AA Change: D16E

DomainStartEndE-ValueType
Pfam:BASP1 2 226 5.2e-73 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000228597
AA Change: D16E
Meta Mutation Damage Score 0.0976 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 97% (60/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,455,278 (GRCm39) K698N possibly damaging Het
Adcy8 A T 15: 64,694,044 (GRCm39) V411D probably damaging Het
Arfgef3 T A 10: 18,475,036 (GRCm39) E1550V probably damaging Het
Asb3 T A 11: 31,011,406 (GRCm39) I306K probably damaging Het
Asic4 T A 1: 75,445,746 (GRCm39) probably benign Het
Cbll1 A T 12: 31,540,539 (GRCm39) I123N probably damaging Het
Ccdc141 A T 2: 76,869,837 (GRCm39) H889Q probably benign Het
Ccdc65 T C 15: 98,618,930 (GRCm39) V303A probably benign Het
Ceacam20 T A 7: 19,720,593 (GRCm39) M60K probably damaging Het
Chd9 T A 8: 91,725,223 (GRCm39) V711D probably damaging Het
Clcn1 T A 6: 42,289,979 (GRCm39) probably null Het
Col16a1 A T 4: 129,962,268 (GRCm39) probably benign Het
Col4a3 C A 1: 82,694,084 (GRCm39) P1568Q possibly damaging Het
Colec12 C A 18: 9,858,650 (GRCm39) P478T probably damaging Het
Dchs1 T C 7: 105,407,985 (GRCm39) H1949R probably damaging Het
Dgka A G 10: 128,572,876 (GRCm39) probably null Het
Dlgap4 A G 2: 156,588,111 (GRCm39) I669V probably benign Het
Dsg1c T A 18: 20,412,298 (GRCm39) D543E probably benign Het
Egflam A T 15: 7,271,906 (GRCm39) C677* probably null Het
Eml5 A C 12: 98,791,031 (GRCm39) probably null Het
Fbn1 G A 2: 125,231,169 (GRCm39) R466C probably damaging Het
Fnbp1 C A 2: 30,948,990 (GRCm39) D198Y probably damaging Het
Gfra3 T A 18: 34,824,668 (GRCm39) M272L probably benign Het
Gm5422 T A 10: 31,126,156 (GRCm39) noncoding transcript Het
Gpr21 T A 2: 37,407,556 (GRCm39) I34N probably damaging Het
Hspb2 G T 9: 50,662,664 (GRCm39) T155K probably benign Het
Il21r A G 7: 125,224,457 (GRCm39) T24A probably benign Het
Mmadhc T A 2: 50,182,847 (GRCm39) H43L possibly damaging Het
Morn1 T A 4: 155,195,473 (GRCm39) D278E possibly damaging Het
Myoc T C 1: 162,476,243 (GRCm39) Y316H probably damaging Het
Nags A G 11: 102,037,805 (GRCm39) D266G probably damaging Het
Nlrp4b A G 7: 10,448,142 (GRCm39) N115S probably benign Het
Nlrp5 T A 7: 23,117,056 (GRCm39) I260N probably damaging Het
Obscn G A 11: 58,926,905 (GRCm39) R6190C probably damaging Het
Or5b24 T C 19: 12,912,624 (GRCm39) V174A possibly damaging Het
Or5be3 A G 2: 86,863,812 (GRCm39) F251S probably damaging Het
Orc4 C T 2: 48,807,285 (GRCm39) M215I probably benign Het
Osbpl6 A T 2: 76,420,735 (GRCm39) H770L probably damaging Het
Otogl A C 10: 107,616,849 (GRCm39) N1809K probably benign Het
Pde3a G T 6: 141,437,957 (GRCm39) V1009L probably damaging Het
Pign T C 1: 105,580,902 (GRCm39) Y159C probably damaging Het
Pik3cg C A 12: 32,247,196 (GRCm39) M842I probably damaging Het
Pnliprp1 C T 19: 58,723,314 (GRCm39) T235I possibly damaging Het
Pramel17 A C 4: 101,692,611 (GRCm39) V463G probably damaging Het
Prpf8 A G 11: 75,381,480 (GRCm39) N239D probably damaging Het
Psd2 T A 18: 36,113,546 (GRCm39) probably benign Het
Ptprt T C 2: 161,393,668 (GRCm39) D1251G probably damaging Het
Pwp2 G A 10: 78,018,520 (GRCm39) S88L probably benign Het
Rassf4 C T 6: 116,624,516 (GRCm39) probably benign Het
Rexo1 A G 10: 80,380,684 (GRCm39) S884P probably damaging Het
Rgs20 C A 1: 5,091,037 (GRCm39) R131L possibly damaging Het
Setd4 A G 16: 93,386,834 (GRCm39) V288A probably benign Het
Stx3 G T 19: 11,763,110 (GRCm39) T160K probably damaging Het
Tas2r102 T A 6: 132,739,636 (GRCm39) S181R probably damaging Het
Tenm3 T C 8: 49,127,434 (GRCm39) probably benign Het
Tmem33 T C 5: 67,421,603 (GRCm39) probably benign Het
Trim33 A G 3: 103,259,306 (GRCm39) probably benign Het
Trip11 A G 12: 101,853,119 (GRCm39) I491T probably benign Het
Trp53bp1 A G 2: 121,058,653 (GRCm39) probably benign Het
Tuba4a T C 1: 75,193,017 (GRCm39) D199G probably benign Het
Zcchc4 A G 5: 52,953,321 (GRCm39) Y110C probably damaging Het
Zp2 C T 7: 119,734,693 (GRCm39) probably benign Het
Other mutations in Basp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01783:Basp1 APN 15 25,364,953 (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
R3798:Basp1 UTSW 15 25,364,398 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TAGGTTTAGAGTCTGAAGCCGCCG -3'
(R):5'- TGGTAGAATGCCCGTGAAGTCCAG -3'

Sequencing Primer
(F):5'- GGGAGCCTCAGTCTTTTTGG -3'
(R):5'- GTGAAGTCCAGGCTGCTC -3'
Posted On 2013-06-11