Incidental Mutation 'R1655:Cep295'
ID 189035
Institutional Source Beutler Lab
Gene Symbol Cep295
Ensembl Gene ENSMUSG00000046111
Gene Name centrosomal protein 295
Synonyms LOC382128, 5830418K08Rik
MMRRC Submission 039691-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R1655 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 15316915-15357788 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15340883 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 397 (E397K)
Ref Sequence ENSEMBL: ENSMUSP00000096578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098979] [ENSMUST00000161132]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000059410
Predicted Effect probably damaging
Transcript: ENSMUST00000098979
AA Change: E397K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: E397K

DomainStartEndE-ValueType
low complexity region 159 175 N/A INTRINSIC
coiled coil region 258 288 N/A INTRINSIC
coiled coil region 536 583 N/A INTRINSIC
coiled coil region 861 889 N/A INTRINSIC
internal_repeat_1 890 1104 6.8e-5 PROSPERO
internal_repeat_1 1277 1489 6.8e-5 PROSPERO
low complexity region 1537 1548 N/A INTRINSIC
low complexity region 1611 1625 N/A INTRINSIC
coiled coil region 1707 1736 N/A INTRINSIC
low complexity region 2003 2018 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000161132
AA Change: E397K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: E397K

DomainStartEndE-ValueType
low complexity region 111 127 N/A INTRINSIC
coiled coil region 210 240 N/A INTRINSIC
coiled coil region 488 535 N/A INTRINSIC
coiled coil region 813 841 N/A INTRINSIC
coiled coil region 1300 1327 N/A INTRINSIC
low complexity region 1489 1500 N/A INTRINSIC
low complexity region 1563 1577 N/A INTRINSIC
coiled coil region 1659 1688 N/A INTRINSIC
low complexity region 2035 2050 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000161795
AA Change: E349K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: E349K

DomainStartEndE-ValueType
low complexity region 111 127 N/A INTRINSIC
coiled coil region 210 240 N/A INTRINSIC
coiled coil region 488 535 N/A INTRINSIC
coiled coil region 813 841 N/A INTRINSIC
internal_repeat_1 842 1056 7.14e-5 PROSPERO
internal_repeat_1 1229 1441 7.14e-5 PROSPERO
low complexity region 1489 1500 N/A INTRINSIC
low complexity region 1563 1577 N/A INTRINSIC
coiled coil region 1659 1688 N/A INTRINSIC
low complexity region 1955 1970 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163010
Meta Mutation Damage Score 0.1905 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik A T 14: 55,560,333 (GRCm38) probably benign Het
Abca1 C T 4: 53,050,964 (GRCm38) A1582T probably benign Het
Acot8 A T 2: 164,803,108 (GRCm38) S52T probably benign Het
Atcay C T 10: 81,213,397 (GRCm38) V124M probably damaging Het
Cfap46 A T 7: 139,642,520 (GRCm38) Y1180* probably null Het
Clptm1 T A 7: 19,645,867 (GRCm38) H148L probably benign Het
Clstn3 A G 6: 124,437,427 (GRCm38) L743P probably damaging Het
Crtc3 A T 7: 80,598,776 (GRCm38) M313K possibly damaging Het
Csgalnact1 T A 8: 68,373,689 (GRCm38) I326F possibly damaging Het
Dennd6b G T 15: 89,196,340 (GRCm38) T19K unknown Het
Disp1 A T 1: 183,087,004 (GRCm38) I1284N probably benign Het
Dnah2 A G 11: 69,473,854 (GRCm38) Y1992H probably damaging Het
Dnah6 C T 6: 73,205,732 (GRCm38) V205I possibly damaging Het
Dst G T 1: 34,282,576 (GRCm38) G4391* probably null Het
Dytn A G 1: 63,661,198 (GRCm38) S258P probably damaging Het
Emilin3 T A 2: 160,910,866 (GRCm38) probably null Het
Ermn C T 2: 58,052,584 (GRCm38) V45I probably benign Het
Fat4 T C 3: 38,957,318 (GRCm38) V2189A probably damaging Het
Fcgbpl1 A T 7: 28,147,110 (GRCm38) N1076Y probably damaging Het
Filip1l T C 16: 57,571,851 (GRCm38) I934T probably damaging Het
Gbp9 T A 5: 105,081,692 (GRCm38) Q472L possibly damaging Het
Gimap5 G T 6: 48,753,176 (GRCm38) E227* probably null Het
Gsdmc C T 15: 63,780,043 (GRCm38) V240M probably benign Het
H2-Q4 G T 17: 35,382,905 (GRCm38) V248F probably damaging Het
Helz2 T C 2: 181,234,147 (GRCm38) E1518G probably damaging Het
Hmcn1 A G 1: 150,630,333 (GRCm38) V3814A probably benign Het
Hoatz A T 9: 51,083,621 (GRCm38) I136N probably damaging Het
Ifna7 A G 4: 88,816,660 (GRCm38) T145A probably benign Het
Itgam T A 7: 128,115,163 (GRCm38) M947K probably benign Het
Itpr2 T G 6: 146,376,148 (GRCm38) N608H probably damaging Het
Klra2 T A 6: 131,220,211 (GRCm38) N242I probably damaging Het
Lonrf2 A T 1: 38,811,824 (GRCm38) L219Q probably damaging Het
Ly6c2 T C 15: 75,108,563 (GRCm38) I126V probably benign Het
Mr1 G A 1: 155,132,455 (GRCm38) T258M probably benign Het
Mrps35 T G 6: 147,060,228 (GRCm38) D200E possibly damaging Het
Nbeal2 A C 9: 110,632,872 (GRCm38) S1506A probably damaging Het
Ncoa7 T C 10: 30,698,245 (GRCm38) probably null Het
Nlrp4a A T 7: 26,449,651 (GRCm38) I228F possibly damaging Het
Or13p5 A G 4: 118,734,999 (GRCm38) S157G probably benign Het
Or5c1 A G 2: 37,331,939 (GRCm38) Y64C probably damaging Het
Or5p59 A T 7: 108,103,464 (GRCm38) I52F probably damaging Het
Or8k3 A G 2: 86,228,080 (GRCm38) V297A possibly damaging Het
Paxx T C 2: 25,460,316 (GRCm38) E93G probably damaging Het
Per2 C A 1: 91,448,768 (GRCm38) G128W probably damaging Het
Piezo1 A G 8: 122,496,822 (GRCm38) I796T probably benign Het
Pkhd1 A G 1: 20,584,129 (GRCm38) S235P probably damaging Het
Pole T A 5: 110,335,922 (GRCm38) F259Y probably damaging Het
Pus7 T A 5: 23,747,800 (GRCm38) K512* probably null Het
Ralyl A T 3: 14,107,236 (GRCm38) Y55F probably damaging Het
Rgs14 T A 13: 55,383,534 (GRCm38) M451K probably benign Het
Rhag T C 17: 40,831,596 (GRCm38) F231L probably damaging Het
Ric8a T C 7: 140,860,895 (GRCm38) C94R probably benign Het
Rictor T A 15: 6,772,212 (GRCm38) D460E probably benign Het
Rpn1 T C 6: 88,100,944 (GRCm38) V454A possibly damaging Het
Sacs A G 14: 61,191,782 (GRCm38) D427G probably benign Het
Scai A T 2: 39,080,117 (GRCm38) V545D possibly damaging Het
Serpinb3a A G 1: 107,046,212 (GRCm38) V323A probably damaging Het
Slc13a5 C A 11: 72,257,378 (GRCm38) C277F probably benign Het
Slc15a1 A T 14: 121,465,899 (GRCm38) Y557N probably benign Het
Slc34a2 T C 5: 53,069,419 (GRCm38) V628A probably benign Het
Slc8a2 G T 7: 16,141,135 (GRCm38) G436V probably damaging Het
Sphkap G A 1: 83,277,515 (GRCm38) R838* probably null Het
Supt5 T C 7: 28,330,024 (GRCm38) I103V probably benign Het
Tdrd1 T A 19: 56,843,216 (GRCm38) Y346* probably null Het
Tg T G 15: 66,828,568 (GRCm38) probably null Het
Top1 T A 2: 160,703,696 (GRCm38) probably null Het
Trmt12 T C 15: 58,873,227 (GRCm38) L158P probably damaging Het
Tssk4 A G 14: 55,651,695 (GRCm38) N226S probably damaging Het
Unc80 G T 1: 66,672,756 (GRCm38) V2746F possibly damaging Het
Usp34 T A 11: 23,375,051 (GRCm38) V999E probably benign Het
Virma T C 4: 11,494,786 (GRCm38) V29A probably damaging Het
Zfp40 A T 17: 23,177,266 (GRCm38) Y48N probably benign Het
Zfp609 A G 9: 65,703,554 (GRCm38) V709A possibly damaging Het
Other mutations in Cep295
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Cep295 APN 9 15,326,072 (GRCm38) splice site probably null
IGL00769:Cep295 APN 9 15,326,144 (GRCm38) missense probably damaging 1.00
IGL00771:Cep295 APN 9 15,322,565 (GRCm38) missense probably damaging 1.00
IGL00850:Cep295 APN 9 15,322,852 (GRCm38) missense probably benign 0.36
IGL01505:Cep295 APN 9 15,318,049 (GRCm38) missense probably benign 0.08
IGL01510:Cep295 APN 9 15,354,626 (GRCm38) nonsense probably null
IGL01759:Cep295 APN 9 15,323,559 (GRCm38) splice site probably null
IGL02415:Cep295 APN 9 15,353,020 (GRCm38) missense probably damaging 1.00
IGL02447:Cep295 APN 9 15,332,511 (GRCm38) missense probably damaging 0.98
IGL02502:Cep295 APN 9 15,350,913 (GRCm38) splice site probably benign
IGL02665:Cep295 APN 9 15,326,632 (GRCm38) splice site probably benign
IGL02718:Cep295 APN 9 15,325,753 (GRCm38) splice site probably null
IGL02995:Cep295 APN 9 15,333,312 (GRCm38) missense probably damaging 1.00
IGL03024:Cep295 APN 9 15,325,572 (GRCm38) missense probably benign
R0196:Cep295 UTSW 9 15,338,213 (GRCm38) missense probably damaging 0.96
R0398:Cep295 UTSW 9 15,354,736 (GRCm38) missense possibly damaging 0.90
R0595:Cep295 UTSW 9 15,332,191 (GRCm38) nonsense probably null
R0610:Cep295 UTSW 9 15,322,754 (GRCm38) missense possibly damaging 0.81
R0616:Cep295 UTSW 9 15,332,322 (GRCm38) nonsense probably null
R0840:Cep295 UTSW 9 15,334,315 (GRCm38) missense probably benign 0.02
R1215:Cep295 UTSW 9 15,327,882 (GRCm38) missense probably benign 0.00
R1376:Cep295 UTSW 9 15,340,868 (GRCm38) splice site probably benign
R1381:Cep295 UTSW 9 15,322,565 (GRCm38) missense probably benign 0.02
R1484:Cep295 UTSW 9 15,334,784 (GRCm38) missense probably damaging 0.99
R1557:Cep295 UTSW 9 15,332,010 (GRCm38) nonsense probably null
R1682:Cep295 UTSW 9 15,333,921 (GRCm38) missense probably benign 0.02
R1700:Cep295 UTSW 9 15,340,883 (GRCm38) missense probably damaging 0.99
R1734:Cep295 UTSW 9 15,340,883 (GRCm38) missense probably damaging 0.99
R1736:Cep295 UTSW 9 15,340,883 (GRCm38) missense probably damaging 0.99
R1743:Cep295 UTSW 9 15,340,883 (GRCm38) missense probably damaging 0.99
R1765:Cep295 UTSW 9 15,327,904 (GRCm38) missense probably damaging 1.00
R1889:Cep295 UTSW 9 15,332,103 (GRCm38) missense possibly damaging 0.94
R1895:Cep295 UTSW 9 15,332,103 (GRCm38) missense possibly damaging 0.94
R1994:Cep295 UTSW 9 15,340,883 (GRCm38) missense probably damaging 0.99
R1995:Cep295 UTSW 9 15,340,883 (GRCm38) missense probably damaging 0.99
R2071:Cep295 UTSW 9 15,341,564 (GRCm38) missense probably damaging 1.00
R2161:Cep295 UTSW 9 15,353,058 (GRCm38) missense probably damaging 0.99
R2195:Cep295 UTSW 9 15,332,321 (GRCm38) missense probably damaging 0.99
R2354:Cep295 UTSW 9 15,334,784 (GRCm38) missense possibly damaging 0.92
R2427:Cep295 UTSW 9 15,334,238 (GRCm38) missense probably damaging 1.00
R2992:Cep295 UTSW 9 15,332,747 (GRCm38) missense probably damaging 1.00
R3873:Cep295 UTSW 9 15,333,365 (GRCm38) missense probably damaging 1.00
R3981:Cep295 UTSW 9 15,317,067 (GRCm38) utr 3 prime probably benign
R4201:Cep295 UTSW 9 15,332,538 (GRCm38) missense probably benign 0.19
R4297:Cep295 UTSW 9 15,322,654 (GRCm38) missense probably benign 0.19
R4543:Cep295 UTSW 9 15,335,253 (GRCm38) missense possibly damaging 0.94
R4584:Cep295 UTSW 9 15,334,799 (GRCm38) missense possibly damaging 0.96
R4724:Cep295 UTSW 9 15,330,832 (GRCm38) missense probably damaging 1.00
R4878:Cep295 UTSW 9 15,334,956 (GRCm38) missense probably benign 0.11
R4884:Cep295 UTSW 9 15,351,760 (GRCm38) missense probably damaging 1.00
R4934:Cep295 UTSW 9 15,333,160 (GRCm38) missense probably damaging 0.97
R4990:Cep295 UTSW 9 15,332,138 (GRCm38) missense probably damaging 1.00
R5057:Cep295 UTSW 9 15,322,683 (GRCm38) missense probably benign 0.00
R5153:Cep295 UTSW 9 15,357,629 (GRCm38) missense probably benign 0.32
R5180:Cep295 UTSW 9 15,332,120 (GRCm38) missense probably benign
R5285:Cep295 UTSW 9 15,322,591 (GRCm38) missense probably benign 0.14
R5360:Cep295 UTSW 9 15,326,733 (GRCm38) missense probably damaging 1.00
R5419:Cep295 UTSW 9 15,324,237 (GRCm38) missense probably damaging 0.98
R5432:Cep295 UTSW 9 15,351,695 (GRCm38) missense possibly damaging 0.95
R5625:Cep295 UTSW 9 15,340,891 (GRCm38) missense probably damaging 0.99
R5637:Cep295 UTSW 9 15,333,812 (GRCm38) splice site probably null
R5645:Cep295 UTSW 9 15,335,108 (GRCm38) missense possibly damaging 0.89
R5645:Cep295 UTSW 9 15,332,794 (GRCm38) missense probably damaging 0.98
R5678:Cep295 UTSW 9 15,322,858 (GRCm38) missense probably damaging 0.99
R5688:Cep295 UTSW 9 15,331,986 (GRCm38) missense probably damaging 1.00
R5807:Cep295 UTSW 9 15,332,532 (GRCm38) missense probably damaging 1.00
R5824:Cep295 UTSW 9 15,325,656 (GRCm38) missense possibly damaging 0.90
R5837:Cep295 UTSW 9 15,346,984 (GRCm38) missense probably damaging 0.99
R5915:Cep295 UTSW 9 15,341,479 (GRCm38) missense probably damaging 1.00
R5988:Cep295 UTSW 9 15,341,474 (GRCm38) missense probably damaging 1.00
R6239:Cep295 UTSW 9 15,322,631 (GRCm38) missense possibly damaging 0.46
R6332:Cep295 UTSW 9 15,334,914 (GRCm38) missense possibly damaging 0.90
R6383:Cep295 UTSW 9 15,332,754 (GRCm38) missense probably damaging 0.99
R6737:Cep295 UTSW 9 15,332,351 (GRCm38) missense possibly damaging 0.90
R6929:Cep295 UTSW 9 15,333,062 (GRCm38) missense probably damaging 1.00
R7428:Cep295 UTSW 9 15,333,498 (GRCm38) missense possibly damaging 0.61
R7697:Cep295 UTSW 9 15,354,710 (GRCm38) missense probably benign 0.01
R7963:Cep295 UTSW 9 15,333,441 (GRCm38) missense possibly damaging 0.90
R8055:Cep295 UTSW 9 15,333,609 (GRCm38) missense probably benign 0.00
R8069:Cep295 UTSW 9 15,322,586 (GRCm38) missense possibly damaging 0.94
R8092:Cep295 UTSW 9 15,332,982 (GRCm38) missense probably benign 0.17
R8117:Cep295 UTSW 9 15,334,364 (GRCm38) missense probably damaging 0.99
R8140:Cep295 UTSW 9 15,341,533 (GRCm38) missense probably benign 0.00
R8178:Cep295 UTSW 9 15,333,540 (GRCm38) missense
R8323:Cep295 UTSW 9 15,353,061 (GRCm38) missense probably damaging 0.96
R8323:Cep295 UTSW 9 15,338,233 (GRCm38) missense possibly damaging 0.53
R8339:Cep295 UTSW 9 15,325,550 (GRCm38) missense
R8351:Cep295 UTSW 9 15,322,906 (GRCm38) missense probably damaging 0.99
R8367:Cep295 UTSW 9 15,334,530 (GRCm38) missense probably benign 0.09
R8725:Cep295 UTSW 9 15,332,419 (GRCm38) nonsense probably null
R8919:Cep295 UTSW 9 15,326,711 (GRCm38) missense probably damaging 1.00
R9015:Cep295 UTSW 9 15,332,968 (GRCm38) missense probably benign 0.00
R9054:Cep295 UTSW 9 15,324,255 (GRCm38) missense possibly damaging 0.92
R9088:Cep295 UTSW 9 15,322,519 (GRCm38) missense probably benign 0.09
R9159:Cep295 UTSW 9 15,341,608 (GRCm38) missense probably benign 0.05
R9243:Cep295 UTSW 9 15,332,309 (GRCm38) missense probably benign 0.36
R9408:Cep295 UTSW 9 15,333,323 (GRCm38) missense probably benign 0.00
R9424:Cep295 UTSW 9 15,333,203 (GRCm38) missense probably damaging 0.98
R9455:Cep295 UTSW 9 15,333,750 (GRCm38) missense possibly damaging 0.90
R9607:Cep295 UTSW 9 15,322,713 (GRCm38) missense probably damaging 0.98
R9648:Cep295 UTSW 9 15,323,607 (GRCm38) missense probably benign 0.00
R9659:Cep295 UTSW 9 15,322,550 (GRCm38) missense probably benign 0.19
R9731:Cep295 UTSW 9 15,333,966 (GRCm38) missense possibly damaging 0.94
X0065:Cep295 UTSW 9 15,322,891 (GRCm38) missense probably benign 0.36
Z1176:Cep295 UTSW 9 15,357,697 (GRCm38) missense probably damaging 0.99
Z1177:Cep295 UTSW 9 15,330,817 (GRCm38) missense
Predicted Primers PCR Primer
(F):5'- TCTCCAATGGCAGAAACAGACATGC -3'
(R):5'- AGGGACTGTCACCAGTGCTTTTAAATG -3'

Sequencing Primer
(F):5'- CAGACATGCAGAGTAGCAATGC -3'
(R):5'- agccatctcaccagccc -3'
Posted On 2014-05-09