Incidental Mutation 'IGL02737:Cstpp1'
ID 305717
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cstpp1
Ensembl Gene ENSMUSG00000040591
Gene Name centriolar satellite-associated tubulin polyglutamylase complex regulator 1
Synonyms 1110051M20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # IGL02737
Quality Score
Status
Chromosome 2
Chromosomal Location 91105413-91275049 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91135142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 9 (Q9L)
Ref Sequence ENSEMBL: ENSMUSP00000092431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064652] [ENSMUST00000094835] [ENSMUST00000102594]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000064652
AA Change: Q106L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000094835
AA Change: Q9L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092431
Gene: ENSMUSG00000040591
AA Change: Q9L

DomainStartEndE-ValueType
low complexity region 219 234 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102594
AA Change: Q106L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099654
Gene: ENSMUSG00000040591
AA Change: Q106L

DomainStartEndE-ValueType
low complexity region 316 331 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145573
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,566,904 (GRCm39) H434Q possibly damaging Het
5430401F13Rik A T 6: 131,529,555 (GRCm39) I50L probably benign Het
Ahnak G A 19: 8,981,957 (GRCm39) M1080I probably benign Het
Aoc1 A G 6: 48,884,577 (GRCm39) K540R probably benign Het
Aplp2 T C 9: 31,064,712 (GRCm39) M585V probably benign Het
C3 A G 17: 57,511,281 (GRCm39) L1607P probably benign Het
C6 A G 15: 4,826,396 (GRCm39) K660E probably benign Het
Cabin1 T C 10: 75,549,419 (GRCm39) T1329A probably benign Het
Ccdc141 T A 2: 76,888,268 (GRCm39) N499I probably damaging Het
Cdh5 A G 8: 104,869,560 (GRCm39) D762G probably damaging Het
Cep152 T C 2: 125,428,394 (GRCm39) R746G possibly damaging Het
Cps1 A T 1: 67,187,933 (GRCm39) Q198L probably benign Het
Eri3 T C 4: 117,422,057 (GRCm39) F112L probably damaging Het
Fam180a C A 6: 35,290,488 (GRCm39) R165L probably benign Het
Fkbp10 A C 11: 100,313,481 (GRCm39) I252L probably benign Het
Gtf2f1 G T 17: 57,310,918 (GRCm39) Q410K possibly damaging Het
Hmcn1 T C 1: 150,439,579 (GRCm39) Y5535C probably damaging Het
Ifrd2 T A 9: 107,469,369 (GRCm39) D372E probably benign Het
Il3ra A G 14: 14,350,760 (GRCm38) N165S probably benign Het
Kntc1 A G 5: 123,957,183 (GRCm39) N2164S probably benign Het
Krtap19-9a A G 16: 88,721,099 (GRCm39) noncoding transcript Het
Nopchap1 T A 10: 83,200,309 (GRCm39) M90K probably damaging Het
Or12d13 T A 17: 37,647,664 (GRCm39) H153L possibly damaging Het
Pclo T C 5: 14,764,177 (GRCm39) S4217P unknown Het
Ppfibp1 G A 6: 146,928,806 (GRCm39) V798I probably damaging Het
Prune2 A T 19: 17,170,775 (GRCm39) R165* probably null Het
Ptges T C 2: 30,782,698 (GRCm39) Y118C probably damaging Het
Rab11fip5 C A 6: 85,325,540 (GRCm39) G289W probably damaging Het
Rfc1 T C 5: 65,468,506 (GRCm39) D69G possibly damaging Het
Scube1 A G 15: 83,606,044 (GRCm39) probably benign Het
Slc5a6 G A 5: 31,194,511 (GRCm39) P565L probably benign Het
Sncaip C A 18: 53,040,128 (GRCm39) T774K probably benign Het
Spata31f1a C A 4: 42,849,431 (GRCm39) L908F possibly damaging Het
Specc1l G A 10: 75,082,158 (GRCm39) S535N probably damaging Het
Tbk1 C T 10: 121,395,767 (GRCm39) G442E probably null Het
Thoc7 A T 14: 13,953,443 (GRCm38) M78K possibly damaging Het
Usp15 A G 10: 122,966,937 (GRCm39) F461S probably damaging Het
Vmn2r6 T A 3: 64,463,911 (GRCm39) I308L possibly damaging Het
Zhx2 C A 15: 57,685,663 (GRCm39) T344N probably damaging Het
Other mutations in Cstpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6768_1110051M20Rik_026 UTSW 2 91,252,303 (GRCm39) missense probably damaging 0.97
BB004:Cstpp1 UTSW 2 91,252,250 (GRCm39) missense probably damaging 1.00
BB014:Cstpp1 UTSW 2 91,252,250 (GRCm39) missense probably damaging 1.00
R0295:Cstpp1 UTSW 2 91,112,939 (GRCm39) missense probably damaging 1.00
R0437:Cstpp1 UTSW 2 91,252,298 (GRCm39) missense probably damaging 0.99
R0446:Cstpp1 UTSW 2 91,135,109 (GRCm39) missense possibly damaging 0.93
R0846:Cstpp1 UTSW 2 91,214,182 (GRCm39) missense probably damaging 0.98
R6768:Cstpp1 UTSW 2 91,252,303 (GRCm39) missense probably damaging 0.97
R6888:Cstpp1 UTSW 2 91,252,239 (GRCm39) missense probably damaging 1.00
R7751:Cstpp1 UTSW 2 91,214,118 (GRCm39) missense probably damaging 1.00
R7754:Cstpp1 UTSW 2 91,135,188 (GRCm39) splice site probably null
R7808:Cstpp1 UTSW 2 91,274,939 (GRCm39) start gained probably benign
R7927:Cstpp1 UTSW 2 91,252,250 (GRCm39) missense probably damaging 1.00
R8817:Cstpp1 UTSW 2 91,107,343 (GRCm39) missense probably benign 0.39
R9610:Cstpp1 UTSW 2 91,135,127 (GRCm39) missense probably damaging 1.00
R9611:Cstpp1 UTSW 2 91,135,127 (GRCm39) missense probably damaging 1.00
R9709:Cstpp1 UTSW 2 91,112,099 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16