Incidental Mutation 'R7627:Ccsap'
ID589501
Institutional Source Beutler Lab
Gene Symbol Ccsap
Ensembl Gene ENSMUSG00000031971
Gene Namecentriole, cilia and spindle associated protein
Synonyms1700054N08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #R7627 (G1)
Quality Score225.009
Status Not validated
Chromosome8
Chromosomal Location123840831-123860209 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123842358 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 248 (Y248C)
Ref Sequence ENSEMBL: ENSMUSP00000034452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034452] [ENSMUST00000122421] [ENSMUST00000127664]
Predicted Effect probably damaging
Transcript: ENSMUST00000034452
AA Change: Y248C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034452
Gene: ENSMUSG00000031971
AA Change: Y248C

DomainStartEndE-ValueType
low complexity region 27 41 N/A INTRINSIC
low complexity region 54 68 N/A INTRINSIC
low complexity region 107 125 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122421
AA Change: Y248C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113319
Gene: ENSMUSG00000031971
AA Change: Y248C

DomainStartEndE-ValueType
Pfam:CCSAP 7 251 6.2e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230112D13Rik T A 14: 34,512,098 I79L unknown Het
Acta2 G A 19: 34,252,531 T8I probably benign Het
Acvrl1 G A 15: 101,135,866 R143Q probably benign Het
Adam22 A G 5: 8,367,933 S8P probably benign Het
Ankrd11 A G 8: 122,890,951 I2054T possibly damaging Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,321,318 probably benign Het
Cad T A 5: 31,060,164 L354Q probably damaging Het
Ccdc15 A T 9: 37,342,402 C184S unknown Het
Ccl8 A G 11: 82,116,039 D26G probably benign Het
Col5a1 T G 2: 27,950,653 Y271* probably null Het
Dnmt3b A G 2: 153,677,580 N695S probably benign Het
Dync1li2 A G 8: 104,429,508 C234R probably benign Het
Dync2h1 A T 9: 7,101,111 D2758E probably benign Het
Eif2ak3 A T 6: 70,892,935 T869S probably benign Het
Foxn4 G T 5: 114,260,434 P175H possibly damaging Het
Gbp5 T G 3: 142,500,558 M1R probably null Het
Glp2r G T 11: 67,746,763 L30I unknown Het
Gls A T 1: 52,166,266 D639E probably benign Het
Gm5145 G T 17: 20,570,392 E11* probably null Het
Gm5724 C T 6: 141,744,545 V161I probably damaging Het
Gm9772 T A 17: 22,007,179 K41N probably damaging Het
Gnat3 A T 5: 17,999,748 D133V Het
Gse1 C A 8: 120,572,777 P849T unknown Het
Hist1h2ak C A 13: 21,753,746 V28L probably benign Het
Hoxb9 A G 11: 96,274,695 T197A probably damaging Het
Krt39 A G 11: 99,514,749 S442P possibly damaging Het
Leng9 A G 7: 4,148,618 L353P probably damaging Het
Mamdc2 A T 19: 23,310,991 M561K probably damaging Het
Mamdc4 A G 2: 25,568,213 V395A probably damaging Het
Mrpl32 G A 13: 14,612,913 R36C probably benign Het
Olfr1415 A T 1: 92,491,385 Y123* probably null Het
Olfr859 A G 9: 19,808,651 D111G probably damaging Het
Papss1 T A 3: 131,585,112 D205E probably benign Het
Pdlim2 T C 14: 70,171,475 D151G probably benign Het
Pdxp T C 15: 78,914,139 V57A probably damaging Het
Plec T A 15: 76,177,394 E2781V probably damaging Het
Prr7 GCGCCGCCGCACGCGCACCCGCACCCACACCATCACGCACTGCCGCACCCACCGCCGCCGCAC GCGCCGCCGCAC 13: 55,472,334 probably benign Het
Rnf32 G A 5: 29,197,950 probably benign Het
Ryr2 A G 13: 11,761,327 V1108A possibly damaging Het
Slc4a8 A G 15: 100,788,223 H276R probably benign Het
Spta1 T A 1: 174,205,378 D1000E probably damaging Het
Sva C A 6: 42,042,664 Q153K unknown Het
Tmprss11d T C 5: 86,309,506 Y236C possibly damaging Het
Zfp160 T C 17: 21,027,008 S607P probably damaging Het
Zfp82 C A 7: 30,056,722 G312W probably damaging Het
Other mutations in Ccsap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Ccsap APN 8 123859230 missense probably damaging 0.99
IGL02259:Ccsap APN 8 123845427 missense possibly damaging 0.50
IGL02320:Ccsap APN 8 123842438 missense probably damaging 1.00
R3726:Ccsap UTSW 8 123859361 missense possibly damaging 0.68
R4890:Ccsap UTSW 8 123845421 missense possibly damaging 0.48
R8290:Ccsap UTSW 8 123859247 missense probably benign
Predicted Primers PCR Primer
(F):5'- TGACCAACCATCATGAGAGC -3'
(R):5'- ACTTCAGGGAATCAGACTGGC -3'

Sequencing Primer
(F):5'- TCATGAGAGCAAAACCATCTCTTG -3'
(R):5'- CTGGCGCTGAGATTTCCAAG -3'
Posted On2019-10-24