Incidental Mutation 'R0846:Cstpp1'
ID 77358
Institutional Source Beutler Lab
Gene Symbol Cstpp1
Ensembl Gene ENSMUSG00000040591
Gene Name centriolar satellite-associated tubulin polyglutamylase complex regulator 1
Synonyms 1110051M20Rik
MMRRC Submission 039025-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R0846 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 91105413-91275049 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91214182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 58 (T58S)
Ref Sequence ENSEMBL: ENSMUSP00000099654 (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: T58S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000094835
SMART Domains Protein: ENSMUSP00000092431
Gene: ENSMUSG00000040591

DomainStartEndE-ValueType
low complexity region 219 234 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102594
AA Change: T58S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099654
Gene: ENSMUSG00000040591
AA Change: T58S

DomainStartEndE-ValueType
low complexity region 316 331 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145573
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.2%
  • 20x: 90.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,071 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,627,861 (GRCm39) R3667* probably null Het
Adh5 T G 3: 138,156,835 (GRCm39) C174G probably damaging Het
Cap1 A C 4: 122,756,692 (GRCm39) probably null Het
Caps2 G A 10: 112,051,490 (GRCm39) R587H probably damaging Het
Ccn1 T A 3: 145,353,525 (GRCm39) M346L possibly damaging Het
Cdo1 A G 18: 46,848,812 (GRCm39) V142A probably damaging Het
Chuk T C 19: 44,079,467 (GRCm39) T345A probably damaging Het
Cobll1 T C 2: 64,932,409 (GRCm39) probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cop1 T C 1: 159,147,386 (GRCm39) Y571H probably benign Het
Dcc A G 18: 71,959,283 (GRCm39) V163A probably benign Het
Dnah11 G T 12: 117,897,585 (GRCm39) N3548K probably damaging Het
Ehhadh G T 16: 21,592,247 (GRCm39) S152* probably null Het
Fitm2 T C 2: 163,311,734 (GRCm39) T160A probably benign Het
Fos C T 12: 85,522,457 (GRCm39) T162I probably damaging Het
Fsd2 T C 7: 81,190,145 (GRCm39) I546V probably benign Het
Gal3st2c T C 1: 93,934,669 (GRCm39) V19A possibly damaging Het
Gorasp2 T A 2: 70,521,298 (GRCm39) S443T probably benign Het
Klf4 G A 4: 55,530,191 (GRCm39) H307Y probably damaging Het
Ldc1 A C 4: 130,115,417 (GRCm39) S44A probably benign Het
Mark3 A G 12: 111,593,658 (GRCm39) D230G possibly damaging Het
Mnat1 T G 12: 73,170,706 (GRCm39) probably null Het
Or5m9b T C 2: 85,905,510 (GRCm39) L142P possibly damaging Het
Otogl T G 10: 107,608,157 (GRCm39) T2073P probably benign Het
Pdxdc1 A C 16: 13,672,257 (GRCm39) probably null Het
Pkhd1l1 T C 15: 44,358,993 (GRCm39) S401P probably damaging Het
Polr1a T C 6: 71,901,627 (GRCm39) Y262H probably damaging Het
Pramel19 A T 4: 101,798,447 (GRCm39) K139N probably benign Het
Scamp4 T C 10: 80,450,537 (GRCm39) F205L probably benign Het
Scn1a C T 2: 66,155,099 (GRCm39) S620N probably benign Het
Scn7a C T 2: 66,527,944 (GRCm39) D849N possibly damaging Het
Slc17a8 T C 10: 89,442,596 (GRCm39) D79G possibly damaging Het
Sync A G 4: 129,187,897 (GRCm39) S310G probably benign Het
Tbc1d9b A C 11: 50,062,148 (GRCm39) I1219L probably benign Het
Vmn1r47 T A 6: 89,999,657 (GRCm39) M263K probably benign Het
Zfp773 A T 7: 7,135,691 (GRCm39) C302S probably damaging Het
Other mutations in Cstpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02737:Cstpp1 APN 2 91,135,142 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGCCTGAATAGGTCACTTTGCAGC -3'
(R):5'- TGTTAGTGGAAAACCCAGACACCCC -3'

Sequencing Primer
(F):5'- GTCACTTTGCAGCCCACAG -3'
(R):5'- ACCCCTCCTTGTTCATAAGTGG -3'
Posted On 2013-10-16