Incidental Mutation 'IGL02541:Cep95'
ID298228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep95
Ensembl Gene ENSMUSG00000018372
Gene Namecentrosomal protein 95
SynonymsF630025I20Rik, Ccdc45, 4732496G21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.153) question?
Stock #IGL02541
Quality Score
Status
Chromosome11
Chromosomal Location106789252-106819930 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 106815581 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 554 (Q554K)
Ref Sequence ENSEMBL: ENSMUSP00000099357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018516] [ENSMUST00000103067] [ENSMUST00000103068] [ENSMUST00000124898]
Predicted Effect possibly damaging
Transcript: ENSMUST00000018516
AA Change: Q597K

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
AA Change: Q597K

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 benign
Transcript: ENSMUST00000103067
SMART Domains Protein: ENSMUSP00000099356
Gene: ENSMUSG00000018363

DomainStartEndE-ValueType
C2 13 103 1e-6 SMART
WW 145 177 1.96e-11 SMART
WW 239 271 2.47e-8 SMART
WW 285 317 4.97e-13 SMART
low complexity region 328 338 N/A INTRINSIC
HECTc 399 735 1.75e-165 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103068
AA Change: Q554K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
AA Change: Q554K

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
Predicted Effect probably benign
Transcript: ENSMUST00000124898
SMART Domains Protein: ENSMUSP00000122454
Gene: ENSMUSG00000018372

DomainStartEndE-ValueType
coiled coil region 7 87 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149279
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151282
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,514,658 L917F possibly damaging Het
Abca6 A T 11: 110,212,267 W833R probably damaging Het
Asb15 T A 6: 24,566,266 V406D probably damaging Het
Bcl9l T C 9: 44,507,769 V968A probably benign Het
Bend7 T C 2: 4,763,305 probably null Het
Cadm2 C A 16: 66,882,883 probably null Het
Cadm2 C A 16: 66,882,882 G21V possibly damaging Het
Camta1 G A 4: 151,084,655 T1191I probably benign Het
Cep152 C T 2: 125,605,354 A425T probably damaging Het
Cgref1 A G 5: 30,934,158 probably null Het
Clock T A 5: 76,262,672 probably null Het
Cmc2 A G 8: 116,894,144 F33L probably benign Het
Cnksr3 A G 10: 7,135,073 V258A probably damaging Het
Col6a6 G T 9: 105,732,216 N1624K probably benign Het
Cped1 T C 6: 22,120,989 I356T probably benign Het
Dpy19l2 C T 9: 24,658,647 V337I probably benign Het
E2f3 A T 13: 29,916,844 probably null Het
Eif1ad A G 19: 5,368,417 probably benign Het
Fam114a2 A T 11: 57,499,801 D302E probably benign Het
Fam129c A T 8: 71,602,782 T279S probably benign Het
Fign T C 2: 63,979,537 N463S probably benign Het
Fzr1 T C 10: 81,370,033 T220A probably damaging Het
Gm14496 G A 2: 182,000,393 R619Q probably benign Het
Gm9268 T A 7: 43,023,668 probably benign Het
Gm9966 T C 7: 95,958,784 I104T unknown Het
Itgb7 G T 15: 102,223,457 H230Q probably benign Het
Kif7 T C 7: 79,710,880 H249R possibly damaging Het
Krtap4-2 T G 11: 99,634,966 Q20P unknown Het
Mis18bp1 T C 12: 65,161,460 T160A probably damaging Het
Mpp6 A G 6: 50,183,727 I323V probably benign Het
Mrps9 T C 1: 42,862,654 probably null Het
Mum1 G A 10: 80,228,439 probably null Het
Mynn T A 3: 30,611,603 H461Q probably damaging Het
Naa25 A G 5: 121,424,531 T459A possibly damaging Het
Notch1 C T 2: 26,468,503 D1439N probably benign Het
Olfr701 A G 7: 106,818,602 E173G probably benign Het
Pcdhb3 A T 18: 37,302,145 D388V probably damaging Het
Pold3 C T 7: 100,083,672 G417S probably damaging Het
Rad17 A G 13: 100,633,443 probably benign Het
Sh3glb1 T C 3: 144,720,040 D5G probably damaging Het
Shank3 T A 15: 89,501,410 Y167N probably damaging Het
Slc3a2 A T 19: 8,707,759 Y292* probably null Het
Slc7a13 T A 4: 19,839,212 probably benign Het
Snx18 A T 13: 113,594,766 I564N probably damaging Het
Supt6 G A 11: 78,226,918 R491C probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tnrc6b C A 15: 80,879,831 D511E probably benign Het
Trio A G 15: 27,844,930 probably benign Het
Trmt12 T A 15: 58,873,802 W350R probably benign Het
Ttc1 T C 11: 43,738,821 T173A probably benign Het
Ttc39d C A 17: 80,216,446 T178K probably damaging Het
Ufl1 T A 4: 25,250,534 E693V possibly damaging Het
Vamp2 G T 11: 69,089,151 E16D unknown Het
Wdr70 C T 15: 7,884,302 W622* probably null Het
Zfp28 C T 7: 6,393,480 Q305* probably null Het
Zfp653 C A 9: 22,055,783 R602L probably damaging Het
Zzef1 T A 11: 72,872,649 V1374E 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
IGL01995:Cep95 APN 11 106806371 missense probably damaging 1.00
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
X0028:Cep95 UTSW 11 106812410 nonsense probably null
Posted On2015-04-16