Incidental Mutation 'R6540:Cep95'
ID 520708
Institutional Source Beutler Lab
Gene Symbol Cep95
Ensembl Gene ENSMUSG00000018372
Gene Name centrosomal protein 95
Synonyms 4732496G21Rik, Ccdc45, F630025I20Rik
MMRRC Submission 044666-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R6540 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 106679466-106709687 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106692328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 169 (D169E)
Ref Sequence ENSEMBL: ENSMUSP00000099357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018516] [ENSMUST00000103068]
AlphaFold Q8BVV7
Predicted Effect probably benign
Transcript: ENSMUST00000018516
AA Change: D169E

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
AA Change: D169E

DomainStartEndE-ValueType
low complexity region 389 407 N/A INTRINSIC
coiled coil region 584 633 N/A INTRINSIC
coiled coil region 701 793 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000103068
AA Change: D169E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
AA Change: D169E

DomainStartEndE-ValueType
low complexity region 346 364 N/A INTRINSIC
coiled coil region 541 590 N/A INTRINSIC
coiled coil region 658 750 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,660,779 (GRCm39) Y143H possibly damaging Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Adamts2 T C 11: 50,679,567 (GRCm39) V849A possibly damaging Het
Ash1l A T 3: 88,892,368 (GRCm39) T1416S probably damaging Het
Cdc5l A G 17: 45,737,570 (GRCm39) W63R probably damaging Het
Col14a1 A C 15: 55,235,977 (GRCm39) N297T unknown Het
Cp T C 3: 20,018,693 (GRCm39) probably null Het
Fbxl19 G T 7: 127,347,525 (GRCm39) probably benign Het
Flnc T C 6: 29,446,376 (GRCm39) V931A possibly damaging Het
Foxj2 A G 6: 122,810,202 (GRCm39) H187R probably benign Het
Hectd4 G A 5: 121,441,634 (GRCm39) V1199I probably benign Het
Ighv7-4 A G 12: 114,186,470 (GRCm39) Y101H possibly damaging Het
Igkv10-94 T A 6: 68,681,507 (GRCm39) Y111F probably benign Het
Lin28a C T 4: 133,745,372 (GRCm39) V74M possibly damaging Het
Lrrc49 T C 9: 60,592,335 (GRCm39) N53S possibly damaging Het
Mroh9 T G 1: 162,866,541 (GRCm39) T701P possibly damaging Het
Ndst4 A T 3: 125,515,801 (GRCm39) K309* probably null Het
Nlrp9a T C 7: 26,256,817 (GRCm39) V145A possibly damaging Het
Or2l5 T C 16: 19,333,571 (GRCm39) I272V probably benign Het
Ovgp1 A T 3: 105,893,897 (GRCm39) K557* probably null Het
Pde4b T C 4: 102,459,073 (GRCm39) L546P probably damaging Het
Pkd1 G A 17: 24,794,951 (GRCm39) V2213M probably damaging Het
Plekhh1 A G 12: 79,111,263 (GRCm39) I542V probably benign Het
Ppan A G 9: 20,802,506 (GRCm39) probably null Het
Prdm15 A T 16: 97,637,005 (GRCm39) V104E probably benign Het
Semp2l2a A C 8: 13,887,573 (GRCm39) S173A probably benign Het
Sik3 A G 9: 46,123,351 (GRCm39) H1050R probably benign Het
Slc35d3 A G 10: 19,725,086 (GRCm39) F257L possibly damaging Het
Tfip11 A G 5: 112,482,263 (GRCm39) probably null Het
Tmem132d A G 5: 128,345,596 (GRCm39) S309P possibly damaging Het
Tmem87a T C 2: 120,234,400 (GRCm39) I48V probably benign Het
V1rd19 T A 7: 23,703,056 (GRCm39) L174* probably null Het
Zfp729a A G 13: 67,767,767 (GRCm39) C821R possibly damaging Het
Zfp970 C A 2: 177,167,388 (GRCm39) H321N probably damaging Het
Zzef1 T C 11: 72,804,055 (GRCm39) L2599P probably damaging Het
Other mutations in Cep95
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Cep95 APN 11 106,709,043 (GRCm39) missense probably damaging 0.98
IGL00988:Cep95 APN 11 106,697,220 (GRCm39) missense probably benign 0.00
IGL01306:Cep95 APN 11 106,704,641 (GRCm39) missense probably benign 0.00
IGL01995:Cep95 APN 11 106,697,197 (GRCm39) missense probably damaging 1.00
IGL02541:Cep95 APN 11 106,706,407 (GRCm39) missense probably damaging 0.99
ANU23:Cep95 UTSW 11 106,704,641 (GRCm39) missense probably benign 0.00
R0071:Cep95 UTSW 11 106,681,554 (GRCm39) unclassified probably benign
R0071:Cep95 UTSW 11 106,681,554 (GRCm39) unclassified probably benign
R0255:Cep95 UTSW 11 106,702,097 (GRCm39) missense probably benign 0.10
R0427:Cep95 UTSW 11 106,681,578 (GRCm39) missense probably benign 0.18
R0436:Cep95 UTSW 11 106,709,511 (GRCm39) missense probably null 0.98
R0583:Cep95 UTSW 11 106,705,449 (GRCm39) missense probably benign
R0831:Cep95 UTSW 11 106,705,530 (GRCm39) missense probably benign 0.00
R1459:Cep95 UTSW 11 106,708,781 (GRCm39) missense probably damaging 1.00
R1589:Cep95 UTSW 11 106,690,930 (GRCm39) missense probably benign 0.00
R1627:Cep95 UTSW 11 106,700,531 (GRCm39) missense probably damaging 1.00
R1768:Cep95 UTSW 11 106,697,177 (GRCm39) nonsense probably null
R1914:Cep95 UTSW 11 106,705,464 (GRCm39) missense probably damaging 1.00
R1915:Cep95 UTSW 11 106,705,464 (GRCm39) missense probably damaging 1.00
R1928:Cep95 UTSW 11 106,681,554 (GRCm39) unclassified probably benign
R2495:Cep95 UTSW 11 106,700,108 (GRCm39) missense possibly damaging 0.73
R3157:Cep95 UTSW 11 106,700,013 (GRCm39) splice site probably benign
R3158:Cep95 UTSW 11 106,700,013 (GRCm39) splice site probably benign
R3712:Cep95 UTSW 11 106,702,112 (GRCm39) nonsense probably null
R3881:Cep95 UTSW 11 106,697,118 (GRCm39) missense probably damaging 0.98
R4739:Cep95 UTSW 11 106,706,560 (GRCm39) missense probably benign 0.34
R4908:Cep95 UTSW 11 106,702,172 (GRCm39) missense probably damaging 1.00
R4989:Cep95 UTSW 11 106,707,480 (GRCm39) splice site probably null
R5913:Cep95 UTSW 11 106,709,335 (GRCm39) unclassified probably benign
R5925:Cep95 UTSW 11 106,703,227 (GRCm39) missense probably benign 0.00
R6291:Cep95 UTSW 11 106,706,422 (GRCm39) missense probably damaging 1.00
R6924:Cep95 UTSW 11 106,702,023 (GRCm39) missense probably damaging 0.99
R6985:Cep95 UTSW 11 106,709,529 (GRCm39) missense probably damaging 0.99
R7156:Cep95 UTSW 11 106,700,050 (GRCm39) missense possibly damaging 0.84
R7940:Cep95 UTSW 11 106,686,974 (GRCm39) missense probably benign
R8348:Cep95 UTSW 11 106,704,593 (GRCm39) missense possibly damaging 0.81
R8509:Cep95 UTSW 11 106,695,876 (GRCm39) missense probably benign 0.08
R8849:Cep95 UTSW 11 106,707,630 (GRCm39) missense
R9284:Cep95 UTSW 11 106,704,624 (GRCm39) missense probably benign
R9532:Cep95 UTSW 11 106,687,042 (GRCm39) missense probably damaging 0.98
R9673:Cep95 UTSW 11 106,703,322 (GRCm39) missense probably benign 0.05
X0028:Cep95 UTSW 11 106,703,236 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGAAGCTGTTTCCACCTTGC -3'
(R):5'- CTGAAGCTCTAGCATCTCAACC -3'

Sequencing Primer
(F):5'- CTTTAAGCATGGTAGGCAAGTACTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
Posted On 2018-06-06