Incidental Mutation 'R0427:Cep95'
ID 38772
Institutional Source Beutler Lab
Gene Symbol Cep95
Ensembl Gene ENSMUSG00000018372
Gene Name centrosomal protein 95
Synonyms 4732496G21Rik, Ccdc45, F630025I20Rik
MMRRC Submission 038629-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R0427 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 106679466-106709687 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106681578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 14 (N14S)
Ref Sequence ENSEMBL: ENSMUSP00000099357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018516] [ENSMUST00000021062] [ENSMUST00000103068] [ENSMUST00000123339] [ENSMUST00000127481] [ENSMUST00000133426] [ENSMUST00000129585]
AlphaFold Q8BVV7
Predicted Effect probably benign
Transcript: ENSMUST00000018516
AA Change: N14S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
AA Change: N14S

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: ENSMUST00000021062
SMART Domains Protein: ENSMUSP00000021062
Gene: ENSMUSG00000020719

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Blast:DEXDc 24 86 9e-31 BLAST
DEXDc 113 316 7.67e-64 SMART
HELICc 355 436 3.57e-32 SMART
low complexity region 477 496 N/A INTRINSIC
Pfam:P68HR 498 532 8e-20 PFAM
Pfam:P68HR 551 583 5.2e-20 PFAM
low complexity region 592 603 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103068
AA Change: N14S

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
AA Change: N14S

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 noncoding transcript
Transcript: ENSMUST00000106779
SMART Domains Protein: ENSMUSP00000102391
Gene: ENSMUSG00000020719

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Blast:DEXDc 24 86 3e-38 BLAST
PDB:4A4D|A 52 86 4e-17 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000123339
SMART Domains Protein: ENSMUSP00000121733
Gene: ENSMUSG00000020719

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Blast:DEXDc 24 86 7e-37 BLAST
Pfam:DEAD 118 161 1.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127481
SMART Domains Protein: ENSMUSP00000138184
Gene: ENSMUSG00000020719

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Blast:DEXDc 24 70 2e-26 BLAST
PDB:4A4D|A 52 70 3e-7 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151741
Predicted Effect probably benign
Transcript: ENSMUST00000133426
SMART Domains Protein: ENSMUSP00000138237
Gene: ENSMUSG00000020719

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Blast:DEXDc 24 86 2e-31 BLAST
DEXDc 113 316 7.67e-64 SMART
Pfam:Helicase_C 359 406 1.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129585
SMART Domains Protein: ENSMUSP00000116859
Gene: ENSMUSG00000020719

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Blast:DEXDc 24 86 8e-37 BLAST
Pfam:DEAD 118 183 7.2e-15 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T G 8: 44,105,493 (GRCm39) T51P probably benign Het
Alpk1 A T 3: 127,464,720 (GRCm39) V1186E probably damaging Het
Ankfn1 T C 11: 89,296,423 (GRCm39) D102G probably damaging Het
Armc2 A G 10: 41,876,406 (GRCm39) I127T possibly damaging Het
Atp6v1b2 T C 8: 69,554,084 (GRCm39) L87P probably damaging Het
Atp9a T A 2: 168,482,617 (GRCm39) probably null Het
BC048679 C G 7: 81,144,993 (GRCm39) V123L probably benign Het
Birc7 G A 2: 180,571,307 (GRCm39) probably null Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Cacna1d T A 14: 30,068,774 (GRCm39) N155I probably damaging Het
Cd300lg T C 11: 101,933,852 (GRCm39) V33A probably damaging Het
Cep290 A G 10: 100,352,041 (GRCm39) D742G probably benign Het
Cfap74 A T 4: 155,525,734 (GRCm39) M728L probably benign Het
Ctsll3 T A 13: 60,949,205 (GRCm39) T9S probably benign Het
Cyp3a44 A G 5: 145,716,412 (GRCm39) S393P possibly damaging Het
Dmbt1 T A 7: 130,642,632 (GRCm39) L150* probably null Het
Dnah2 A G 11: 69,343,705 (GRCm39) I2868T probably damaging Het
Dop1a A G 9: 86,389,585 (GRCm39) H505R probably damaging Het
Exo1 A G 1: 175,733,519 (GRCm39) K781R probably damaging Het
Fam184a A G 10: 53,566,211 (GRCm39) Y459H probably damaging Het
Foxp1 C T 6: 98,907,164 (GRCm39) D540N probably damaging Het
Fstl5 T A 3: 76,615,034 (GRCm39) Y698* probably null Het
Gm5141 T C 13: 62,922,525 (GRCm39) K215E probably damaging Het
Grik5 C A 7: 24,757,923 (GRCm39) R386L probably benign Het
Ikbke A T 1: 131,185,647 (GRCm39) S620R possibly damaging Het
Kcnh3 A T 15: 99,131,180 (GRCm39) M518L probably benign Het
Lrrcc1 G T 3: 14,623,416 (GRCm39) A748S probably damaging Het
Mbd5 T G 2: 49,169,091 (GRCm39) S1191A probably benign Het
Med27 T C 2: 29,390,283 (GRCm39) I70T probably damaging Het
Mplkipl1 A G 19: 61,163,908 (GRCm39) Y176H probably damaging Het
Myh4 A G 11: 67,149,479 (GRCm39) D1737G probably damaging Het
Myo5a A G 9: 75,081,478 (GRCm39) D1021G probably benign Het
Ncor1 T C 11: 62,301,746 (GRCm39) E212G probably damaging Het
Neb A T 2: 52,133,896 (GRCm39) N3362K possibly damaging Het
Neb A G 2: 52,134,081 (GRCm39) S3301P probably damaging Het
Neurod1 T G 2: 79,284,526 (GRCm39) K286Q probably damaging Het
Noc3l T C 19: 38,778,095 (GRCm39) Q773R probably benign Het
Nup205 T A 6: 35,171,398 (GRCm39) N420K probably benign Het
Olfml3 A T 3: 103,644,330 (GRCm39) V113E probably benign Het
Opa1 T C 16: 29,430,279 (GRCm39) V439A probably damaging Het
Or13c7 A G 4: 43,854,417 (GRCm39) Y36C probably damaging Het
Or14j7 A T 17: 38,234,520 (GRCm39) H21L probably benign Het
Or1j14 C T 2: 36,417,994 (GRCm39) S190L probably damaging Het
Or1o11 T A 17: 37,756,593 (GRCm39) D60E probably damaging Het
Pcdhb11 T C 18: 37,555,818 (GRCm39) S383P probably damaging Het
Pkd1 T C 17: 24,812,476 (GRCm39) V3803A probably damaging Het
Plekhg1 A G 10: 3,914,235 (GRCm39) D1319G probably benign Het
Polq T A 16: 36,882,355 (GRCm39) C1227* probably null Het
Pramel22 A T 4: 143,380,993 (GRCm39) N343K probably benign Het
Psmc1 T C 12: 100,085,487 (GRCm39) F283L probably damaging Het
Psmd8 T C 7: 28,875,552 (GRCm39) N189S probably damaging Het
Ptger4 G A 15: 5,272,382 (GRCm39) T104I probably benign Het
Ptpro T G 6: 137,345,294 (GRCm39) V100G possibly damaging Het
Rab11fip1 T A 8: 27,644,520 (GRCm39) T422S probably damaging Het
Rad54l2 A G 9: 106,570,891 (GRCm39) L1143P possibly damaging Het
Rnf148 A G 6: 23,654,072 (GRCm39) M308T probably damaging Het
Sbsn T A 7: 30,451,523 (GRCm39) probably benign Het
Scube2 T A 7: 109,424,044 (GRCm39) T487S probably benign Het
Sema4c C A 1: 36,592,892 (GRCm39) E109* probably null Het
Sipa1l2 A T 8: 126,207,071 (GRCm39) L544Q probably damaging Het
Slc28a2 A G 2: 122,288,702 (GRCm39) T603A probably benign Het
Tbc1d7 T A 13: 43,306,563 (GRCm39) T138S probably benign Het
Timd4 A T 11: 46,710,084 (GRCm39) T239S probably benign Het
Trp53bp1 A G 2: 121,066,498 (GRCm39) S743P probably damaging Het
Tspan10 T A 11: 120,335,120 (GRCm39) Y77N probably damaging Het
Ttc14 T C 3: 33,857,633 (GRCm39) S245P probably damaging Het
Ttf1 T A 2: 28,955,054 (GRCm39) S139R probably benign Het
Tubd1 C A 11: 86,448,616 (GRCm39) Q279K possibly damaging Het
Twnk A G 19: 44,996,026 (GRCm39) E153G probably benign Het
Ush2a A G 1: 188,132,478 (GRCm39) D900G probably damaging Het
Usp54 A G 14: 20,620,432 (GRCm39) V691A probably benign Het
Usp8 T C 2: 126,559,952 (GRCm39) probably benign Het
Vmn1r231 C T 17: 21,110,490 (GRCm39) V142I probably benign Het
Vmn2r15 C T 5: 109,434,953 (GRCm39) A584T probably damaging Het
Vmn2r6 A G 3: 64,467,008 (GRCm39) S164P probably damaging Het
Vps16 A G 2: 130,280,770 (GRCm39) Y233C probably benign Het
Vwf C G 6: 125,650,902 (GRCm39) H2511D probably benign Het
Wipf3 T G 6: 54,460,882 (GRCm39) L110R possibly damaging Het
Zfp945 T A 17: 23,084,226 (GRCm39) N11I probably benign 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
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
R6540:Cep95 UTSW 11 106,692,328 (GRCm39) missense probably damaging 0.97
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'- CCCTTATTTGGGCACCCGAGAG -3'
(R):5'- ATGTCAAAGGAAACCTGTGACCTAAGAC -3'

Sequencing Primer
(F):5'- AGCTGACTTATGACATTCCTGG -3'
(R):5'- CACTTTTCAGTACCCTTACCTGGTAC -3'
Posted On 2013-05-23