Incidental Mutation 'IGL01995:Cep95'
ID 183647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep95
Ensembl Gene ENSMUSG00000018372
Gene Name centrosomal protein 95
Synonyms F630025I20Rik, Ccdc45, 4732496G21Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.268) question?
Stock # IGL01995
Quality Score
Status
Chromosome 11
Chromosomal Location 106789252-106819930 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106806371 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 240 (L240P)
Ref Sequence ENSEMBL: ENSMUSP00000099357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018516] [ENSMUST00000103068]
AlphaFold Q8BVV7
Predicted Effect probably damaging
Transcript: ENSMUST00000018516
AA Change: L283P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
AA Change: L283P

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: L240P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
AA Change: L240P

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,163,845 probably benign Het
AI661453 C A 17: 47,468,517 probably benign Het
Arhgap29 G A 3: 122,014,328 V1052I probably benign Het
Arhgef17 A G 7: 100,928,655 S1029P probably benign Het
Arpc5l T C 2: 39,008,214 S7P probably damaging Het
Asf1b A G 8: 83,955,904 I26V probably benign Het
Cnmd A G 14: 79,642,068 probably benign Het
Cntn3 T A 6: 102,203,885 N783I probably damaging Het
Col6a2 C A 10: 76,604,842 probably benign Het
Col9a2 T C 4: 121,050,410 probably null Het
Cry2 T C 2: 92,424,632 E126G probably benign Het
Cxcl15 T C 5: 90,794,608 V13A possibly damaging Het
Dbr1 A G 9: 99,583,899 D510G probably benign Het
Dct A G 14: 118,034,243 F392L probably damaging Het
Dgkz A G 2: 91,934,050 probably benign Het
Dhrs7b A G 11: 60,830,715 I2V probably benign Het
Efnb3 A T 11: 69,556,904 probably null Het
Fbf1 T A 11: 116,151,020 R565S probably null Het
Gimap5 T C 6: 48,752,793 I99T probably damaging Het
Gm9912 A G 3: 149,185,449 L16P unknown Het
Gpr17 A G 18: 31,947,134 L292P probably damaging Het
Hdac10 C T 15: 89,127,598 V129M probably damaging Het
Mfap3l A G 8: 60,671,464 I247V possibly damaging Het
Mtus1 A T 8: 41,084,420 S86R probably damaging Het
Mylk3 A G 8: 85,359,261 S55P possibly damaging Het
Nol6 A T 4: 41,118,567 C745S probably damaging Het
Nudt13 A T 14: 20,306,317 E103D probably damaging Het
Olfr1129 A G 2: 87,575,462 Y126C probably damaging Het
Olfr395 A G 11: 73,907,435 I19T possibly damaging Het
Pdzk1 G T 3: 96,857,371 A324S probably benign Het
Pofut2 T C 10: 77,260,681 V80A possibly damaging Het
Rasip1 A G 7: 45,636,816 D821G probably damaging Het
Rnf10 T A 5: 115,251,102 K273* probably null Het
Slc4a9 A G 18: 36,539,775 M811V possibly damaging Het
Smchd1 T C 17: 71,444,020 D301G probably damaging Het
Tm9sf2 A T 14: 122,143,471 T159S probably benign Het
Tom1l1 G A 11: 90,649,861 P327S probably damaging Het
Trim3 A G 7: 105,618,482 probably benign Het
Trpm6 A C 19: 18,830,327 probably benign Het
Ttc13 A C 8: 124,688,882 L245R probably damaging Het
Txnrd1 T A 10: 82,877,284 V60E probably damaging Het
Ung T A 5: 114,136,386 D173E probably benign Het
Zbtb5 A G 4: 44,995,294 V30A probably damaging Het
Other mutations in Cep95
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Cep95 APN 11 106818217 missense probably damaging 0.98
IGL00988:Cep95 APN 11 106806394 missense probably benign 0.00
IGL01306:Cep95 APN 11 106813815 missense probably benign 0.00
IGL02541:Cep95 APN 11 106815581 missense probably damaging 0.99
ANU23:Cep95 UTSW 11 106813815 missense probably benign 0.00
R0071:Cep95 UTSW 11 106790728 unclassified probably benign
R0071:Cep95 UTSW 11 106790728 unclassified probably benign
R0255:Cep95 UTSW 11 106811271 missense probably benign 0.10
R0427:Cep95 UTSW 11 106790752 missense probably benign 0.18
R0436:Cep95 UTSW 11 106818685 missense probably null 0.98
R0583:Cep95 UTSW 11 106814623 missense probably benign
R0831:Cep95 UTSW 11 106814704 missense probably benign 0.00
R1459:Cep95 UTSW 11 106817955 missense probably damaging 1.00
R1589:Cep95 UTSW 11 106800104 missense probably benign 0.00
R1627:Cep95 UTSW 11 106809705 missense probably damaging 1.00
R1768:Cep95 UTSW 11 106806351 nonsense probably null
R1914:Cep95 UTSW 11 106814638 missense probably damaging 1.00
R1915:Cep95 UTSW 11 106814638 missense probably damaging 1.00
R1928:Cep95 UTSW 11 106790728 unclassified probably benign
R2495:Cep95 UTSW 11 106809282 missense possibly damaging 0.73
R3157:Cep95 UTSW 11 106809187 splice site probably benign
R3158:Cep95 UTSW 11 106809187 splice site probably benign
R3712:Cep95 UTSW 11 106811286 nonsense probably null
R3881:Cep95 UTSW 11 106806292 missense probably damaging 0.98
R4739:Cep95 UTSW 11 106815734 missense probably benign 0.34
R4908:Cep95 UTSW 11 106811346 missense probably damaging 1.00
R4989:Cep95 UTSW 11 106816654 splice site probably null
R5913:Cep95 UTSW 11 106818509 unclassified probably benign
R5925:Cep95 UTSW 11 106812401 missense probably benign 0.00
R6291:Cep95 UTSW 11 106815596 missense probably damaging 1.00
R6540:Cep95 UTSW 11 106801502 missense probably damaging 0.97
R6924:Cep95 UTSW 11 106811197 missense probably damaging 0.99
R6985:Cep95 UTSW 11 106818703 missense probably damaging 0.99
R7156:Cep95 UTSW 11 106809224 missense possibly damaging 0.84
R7940:Cep95 UTSW 11 106796148 missense probably benign
R8348:Cep95 UTSW 11 106813767 missense possibly damaging 0.81
R8509:Cep95 UTSW 11 106805050 missense probably benign 0.08
R8849:Cep95 UTSW 11 106816804 missense
R9284:Cep95 UTSW 11 106813798 missense probably benign
R9532:Cep95 UTSW 11 106796216 missense probably damaging 0.98
R9673:Cep95 UTSW 11 106812496 missense probably benign 0.05
X0028:Cep95 UTSW 11 106812410 nonsense probably null
Posted On 2014-05-07