Incidental Mutation 'R4884:Cep295'
ID 375550
Institutional Source Beutler Lab
Gene Symbol Cep295
Ensembl Gene ENSMUSG00000046111
Gene Name centrosomal protein 295
Synonyms 5830418K08Rik, LOC382128
MMRRC Submission 041978-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R4884 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 15228211-15269084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15263056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 169 (E169G)
Ref Sequence ENSEMBL: ENSMUSP00000096578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098979] [ENSMUST00000161132]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000098979
AA Change: E169G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: E169G

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 noncoding transcript
Transcript: ENSMUST00000160692
Predicted Effect probably damaging
Transcript: ENSMUST00000161132
AA Change: E169G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: E169G

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 probably damaging
Transcript: ENSMUST00000161795
AA Change: E121G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: E121G

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aadat C T 8: 60,979,663 (GRCm39) P175L probably damaging Het
Acot7 G T 4: 152,270,664 (GRCm39) probably benign Het
Adad1 T G 3: 37,130,813 (GRCm39) F259V possibly damaging Het
Adora2a A G 10: 75,161,879 (GRCm39) Y6C probably null Het
Ahnak A G 19: 8,990,118 (GRCm39) probably benign Het
Ankar A T 1: 72,737,966 (GRCm39) M72K probably damaging Het
Ankrd45 A G 1: 160,988,270 (GRCm39) K176R possibly damaging Het
Ap3m2 T C 8: 23,293,997 (GRCm39) K18E probably damaging Het
Apol10b C T 15: 77,473,006 (GRCm39) R16Q possibly damaging Het
Atp2b2 T A 6: 113,819,147 (GRCm39) T49S possibly damaging Het
B3gntl1 T G 11: 121,520,795 (GRCm39) Y206S possibly damaging Het
BC061237 G A 14: 44,738,666 (GRCm39) E22K possibly damaging Het
Bmp1 A G 14: 70,712,655 (GRCm39) V959A probably benign Het
Cfap20dc G A 14: 8,578,394 (GRCm38) T116I probably damaging Het
Cfap65 T G 1: 74,942,283 (GRCm39) E1757A possibly damaging Het
Cgrrf1 T A 14: 47,090,912 (GRCm39) I216N possibly damaging Het
Clstn2 T A 9: 97,681,448 (GRCm39) D64V probably damaging Het
Col27a1 T A 4: 63,194,197 (GRCm39) D851E possibly damaging Het
Coq9 C T 8: 95,579,822 (GRCm39) P259L probably benign Het
Cps1 A G 1: 67,216,183 (GRCm39) N836S probably benign Het
Cracd A T 5: 76,996,682 (GRCm39) I47F probably damaging Het
Crebbp T C 16: 3,906,239 (GRCm39) K1588E probably damaging Het
Cspg4 T C 9: 56,805,353 (GRCm39) W2055R probably benign Het
Cyp3a44 A T 5: 145,714,792 (GRCm39) M453K probably damaging Het
Dhx36 T G 3: 62,391,681 (GRCm39) D555A probably damaging Het
Dock2 A T 11: 34,216,248 (GRCm39) Y1219N probably damaging Het
Dpy19l2 A T 9: 24,539,476 (GRCm39) C492* probably null Het
Dusp22 A G 13: 30,852,813 (GRCm39) N16S probably benign Het
Epha1 A G 6: 42,337,668 (GRCm39) M805T probably damaging Het
Espl1 C T 15: 102,232,505 (GRCm39) A2071V possibly damaging Het
Fbxo11 T A 17: 88,299,761 (GRCm39) D863V probably damaging Het
Fbxo7 T A 10: 85,865,014 (GRCm39) Y106N probably damaging Het
Fhip1a A C 3: 85,590,918 (GRCm39) C178G probably damaging Het
Fst A G 13: 114,590,920 (GRCm39) V282A probably damaging Het
Gfra3 T A 18: 34,844,304 (GRCm39) M79L probably benign Het
Glp1r T C 17: 31,155,240 (GRCm39) V409A probably damaging Het
Gm10799 T A 2: 103,898,552 (GRCm39) D51V probably damaging Het
Gm572 C A 4: 148,751,819 (GRCm39) T228N possibly damaging Het
Grip1 C T 10: 119,911,211 (GRCm39) T643M probably damaging Het
Hdgfl2 C T 17: 56,403,265 (GRCm39) R222C possibly damaging Het
Hecw2 T A 1: 53,990,000 (GRCm39) I125F probably benign Het
Hipk1 A G 3: 103,651,338 (GRCm39) S1153P possibly damaging Het
Insm2 T C 12: 55,646,546 (GRCm39) S97P probably damaging Het
Iqca1 A G 1: 90,067,759 (GRCm39) V164A probably benign Het
Kcna6 T C 6: 126,715,689 (GRCm39) D400G probably benign Het
Kctd1 T C 18: 15,107,311 (GRCm39) Y122C probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Klra2 T C 6: 131,207,165 (GRCm39) Y148C probably damaging Het
Krtap31-1 G A 11: 99,799,310 (GRCm39) C171Y unknown Het
Ldlrap1 C T 4: 134,486,282 (GRCm39) R59Q probably benign Het
Ltb T C 17: 35,414,234 (GRCm39) I3T probably benign Het
Macf1 T C 4: 123,348,802 (GRCm39) I2477V probably benign Het
Mpdz A T 4: 81,279,713 (GRCm39) I39N probably damaging Het
Mtcl3 A T 10: 29,072,537 (GRCm39) N610Y probably damaging Het
Mycbp2 A G 14: 103,448,731 (GRCm39) I1776T probably damaging Het
Myof T A 19: 37,930,805 (GRCm39) E994V probably damaging Het
Myom3 A G 4: 135,510,366 (GRCm39) E553G possibly damaging Het
Mysm1 A T 4: 94,847,185 (GRCm39) C504S probably damaging Het
Nectin3 A T 16: 46,269,249 (GRCm39) H384Q probably benign Het
Net1 G A 13: 3,934,252 (GRCm39) R482* probably null Het
Nit1 T C 1: 171,171,263 (GRCm39) K193R probably null Het
Nlgn1 A G 3: 25,966,838 (GRCm39) V205A probably damaging Het
Nr3c2 A T 8: 77,635,438 (GRCm39) I180F possibly damaging Het
Nup50l A T 6: 96,141,793 (GRCm39) M417K probably damaging Het
Nup62 T A 7: 44,478,289 (GRCm39) S101R probably damaging Het
Or13c7 T C 4: 43,854,890 (GRCm39) S194P probably damaging Het
Or1l8 G T 2: 36,818,024 (GRCm39) T34K possibly damaging Het
Or4c3 A G 2: 89,851,987 (GRCm39) V141A probably benign Het
Or51b17 T A 7: 103,542,862 (GRCm39) I27F probably benign Het
Or56b2j T A 7: 104,353,068 (GRCm39) I98N probably damaging Het
Or5b111 A T 19: 13,291,034 (GRCm39) I205N probably benign Het
Or5b124 A T 19: 13,611,391 (GRCm39) K305N probably benign Het
Or5p80 A T 7: 108,229,819 (GRCm39) I207F probably damaging Het
Osbpl6 A T 2: 76,379,883 (GRCm39) I158F probably damaging Het
Pcbp4 A G 9: 106,339,301 (GRCm39) T103A probably benign Het
Pcdha2 T A 18: 37,073,953 (GRCm39) L528Q probably damaging Het
Pcdhga5 T C 18: 37,827,680 (GRCm39) S43P probably damaging Het
Pdgfra C A 5: 75,349,973 (GRCm39) N952K probably benign Het
Pla2r1 A G 2: 60,365,328 (GRCm39) S81P probably damaging Het
Rabggtb A T 3: 153,617,568 (GRCm39) D43E possibly damaging Het
Rexo5 T A 7: 119,424,774 (GRCm39) C43* probably null Het
Robo1 T A 16: 72,701,639 (GRCm39) D168E probably damaging Het
Saxo4 A T 19: 10,451,865 (GRCm39) *428R probably null Het
Scimp A G 11: 70,688,865 (GRCm39) M49T unknown Het
Sema3e T A 5: 14,275,579 (GRCm39) V228E probably damaging Het
Sema6d A G 2: 124,498,738 (GRCm39) probably null Het
Serpinb6d A T 13: 33,850,428 (GRCm39) D85V possibly damaging Het
Slc24a2 C T 4: 86,909,745 (GRCm39) V658I probably damaging Het
Snd1 T C 6: 28,526,911 (GRCm39) I198T possibly damaging Het
Snx33 C T 9: 56,833,464 (GRCm39) V202M probably damaging Het
Srcap A G 7: 127,121,189 (GRCm39) E174G probably damaging Het
Srgap2 C A 1: 131,220,314 (GRCm39) probably null Het
Stxbp5 A T 10: 9,688,085 (GRCm39) Y405* probably null Het
Thsd4 C T 9: 59,895,320 (GRCm39) R710H probably benign Het
Trp53inp1 T A 4: 11,165,130 (GRCm39) D51E probably benign Het
Ttc41 A G 10: 86,566,882 (GRCm39) D516G probably benign Het
Tut7 A T 13: 59,937,266 (GRCm39) L775H probably damaging Het
Uap1l1 A G 2: 25,252,840 (GRCm39) V400A probably damaging Het
Vit T C 17: 78,932,182 (GRCm39) S430P probably damaging Het
Vmn1r9 T A 6: 57,048,294 (GRCm39) M123K possibly damaging Het
Vmn2r14 A T 5: 109,369,384 (GRCm39) probably null Het
Vwa3a A G 7: 120,390,924 (GRCm39) T746A probably benign Het
Wdfy4 G T 14: 32,710,852 (GRCm39) Y2578* probably null Het
Wdr53 A T 16: 32,075,796 (GRCm39) K334* probably null Het
Xpot G T 10: 121,442,713 (GRCm39) H495Q probably damaging Het
Zfp109 T C 7: 23,928,570 (GRCm39) T288A probably benign Het
Zfp277 T A 12: 40,413,152 (GRCm39) E276V probably damaging Het
Zfp703 A G 8: 27,468,729 (GRCm39) D131G probably benign Het
Zfp985 T A 4: 147,667,801 (GRCm39) I223N probably benign Het
Zrsr2-ps1 T C 11: 22,923,805 (GRCm39) V193A possibly damaging Het
Zscan20 A G 4: 128,481,958 (GRCm39) I568T possibly damaging Het
Other mutations in Cep295
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Cep295 APN 9 15,237,368 (GRCm39) splice site probably null
IGL00769:Cep295 APN 9 15,237,440 (GRCm39) missense probably damaging 1.00
IGL00771:Cep295 APN 9 15,233,861 (GRCm39) missense probably damaging 1.00
IGL00850:Cep295 APN 9 15,234,148 (GRCm39) missense probably benign 0.36
IGL01505:Cep295 APN 9 15,229,345 (GRCm39) missense probably benign 0.08
IGL01510:Cep295 APN 9 15,265,922 (GRCm39) nonsense probably null
IGL01759:Cep295 APN 9 15,234,855 (GRCm39) splice site probably null
IGL02415:Cep295 APN 9 15,264,316 (GRCm39) missense probably damaging 1.00
IGL02447:Cep295 APN 9 15,243,807 (GRCm39) missense probably damaging 0.98
IGL02502:Cep295 APN 9 15,262,209 (GRCm39) splice site probably benign
IGL02665:Cep295 APN 9 15,237,928 (GRCm39) splice site probably benign
IGL02718:Cep295 APN 9 15,237,049 (GRCm39) splice site probably null
IGL02995:Cep295 APN 9 15,244,608 (GRCm39) missense probably damaging 1.00
IGL03024:Cep295 APN 9 15,236,868 (GRCm39) missense probably benign
R0196:Cep295 UTSW 9 15,249,509 (GRCm39) missense probably damaging 0.96
R0398:Cep295 UTSW 9 15,266,032 (GRCm39) missense possibly damaging 0.90
R0595:Cep295 UTSW 9 15,243,487 (GRCm39) nonsense probably null
R0610:Cep295 UTSW 9 15,234,050 (GRCm39) missense possibly damaging 0.81
R0616:Cep295 UTSW 9 15,243,618 (GRCm39) nonsense probably null
R0840:Cep295 UTSW 9 15,245,611 (GRCm39) missense probably benign 0.02
R1215:Cep295 UTSW 9 15,239,178 (GRCm39) missense probably benign 0.00
R1376:Cep295 UTSW 9 15,252,164 (GRCm39) splice site probably benign
R1381:Cep295 UTSW 9 15,233,861 (GRCm39) missense probably benign 0.02
R1484:Cep295 UTSW 9 15,246,080 (GRCm39) missense probably damaging 0.99
R1557:Cep295 UTSW 9 15,243,306 (GRCm39) nonsense probably null
R1655:Cep295 UTSW 9 15,252,179 (GRCm39) missense probably damaging 0.99
R1682:Cep295 UTSW 9 15,245,217 (GRCm39) missense probably benign 0.02
R1700:Cep295 UTSW 9 15,252,179 (GRCm39) missense probably damaging 0.99
R1734:Cep295 UTSW 9 15,252,179 (GRCm39) missense probably damaging 0.99
R1736:Cep295 UTSW 9 15,252,179 (GRCm39) missense probably damaging 0.99
R1743:Cep295 UTSW 9 15,252,179 (GRCm39) missense probably damaging 0.99
R1765:Cep295 UTSW 9 15,239,200 (GRCm39) missense probably damaging 1.00
R1889:Cep295 UTSW 9 15,243,399 (GRCm39) missense possibly damaging 0.94
R1895:Cep295 UTSW 9 15,243,399 (GRCm39) missense possibly damaging 0.94
R1994:Cep295 UTSW 9 15,252,179 (GRCm39) missense probably damaging 0.99
R1995:Cep295 UTSW 9 15,252,179 (GRCm39) missense probably damaging 0.99
R2071:Cep295 UTSW 9 15,252,860 (GRCm39) missense probably damaging 1.00
R2161:Cep295 UTSW 9 15,264,354 (GRCm39) missense probably damaging 0.99
R2195:Cep295 UTSW 9 15,243,617 (GRCm39) missense probably damaging 0.99
R2354:Cep295 UTSW 9 15,246,080 (GRCm39) missense possibly damaging 0.92
R2427:Cep295 UTSW 9 15,245,534 (GRCm39) missense probably damaging 1.00
R2992:Cep295 UTSW 9 15,244,043 (GRCm39) missense probably damaging 1.00
R3873:Cep295 UTSW 9 15,244,661 (GRCm39) missense probably damaging 1.00
R3981:Cep295 UTSW 9 15,228,363 (GRCm39) utr 3 prime probably benign
R4201:Cep295 UTSW 9 15,243,834 (GRCm39) missense probably benign 0.19
R4297:Cep295 UTSW 9 15,233,950 (GRCm39) missense probably benign 0.19
R4543:Cep295 UTSW 9 15,246,549 (GRCm39) missense possibly damaging 0.94
R4584:Cep295 UTSW 9 15,246,095 (GRCm39) missense possibly damaging 0.96
R4724:Cep295 UTSW 9 15,242,128 (GRCm39) missense probably damaging 1.00
R4878:Cep295 UTSW 9 15,246,252 (GRCm39) missense probably benign 0.11
R4934:Cep295 UTSW 9 15,244,456 (GRCm39) missense probably damaging 0.97
R4990:Cep295 UTSW 9 15,243,434 (GRCm39) missense probably damaging 1.00
R5057:Cep295 UTSW 9 15,233,979 (GRCm39) missense probably benign 0.00
R5153:Cep295 UTSW 9 15,268,925 (GRCm39) missense probably benign 0.32
R5180:Cep295 UTSW 9 15,243,416 (GRCm39) missense probably benign
R5285:Cep295 UTSW 9 15,233,887 (GRCm39) missense probably benign 0.14
R5360:Cep295 UTSW 9 15,238,029 (GRCm39) missense probably damaging 1.00
R5419:Cep295 UTSW 9 15,235,533 (GRCm39) missense probably damaging 0.98
R5432:Cep295 UTSW 9 15,262,991 (GRCm39) missense possibly damaging 0.95
R5625:Cep295 UTSW 9 15,252,187 (GRCm39) missense probably damaging 0.99
R5637:Cep295 UTSW 9 15,245,108 (GRCm39) splice site probably null
R5645:Cep295 UTSW 9 15,246,404 (GRCm39) missense possibly damaging 0.89
R5645:Cep295 UTSW 9 15,244,090 (GRCm39) missense probably damaging 0.98
R5678:Cep295 UTSW 9 15,234,154 (GRCm39) missense probably damaging 0.99
R5688:Cep295 UTSW 9 15,243,282 (GRCm39) missense probably damaging 1.00
R5807:Cep295 UTSW 9 15,243,828 (GRCm39) missense probably damaging 1.00
R5824:Cep295 UTSW 9 15,236,952 (GRCm39) missense possibly damaging 0.90
R5837:Cep295 UTSW 9 15,258,280 (GRCm39) missense probably damaging 0.99
R5915:Cep295 UTSW 9 15,252,775 (GRCm39) missense probably damaging 1.00
R5988:Cep295 UTSW 9 15,252,770 (GRCm39) missense probably damaging 1.00
R6239:Cep295 UTSW 9 15,233,927 (GRCm39) missense possibly damaging 0.46
R6332:Cep295 UTSW 9 15,246,210 (GRCm39) missense possibly damaging 0.90
R6383:Cep295 UTSW 9 15,244,050 (GRCm39) missense probably damaging 0.99
R6737:Cep295 UTSW 9 15,243,647 (GRCm39) missense possibly damaging 0.90
R6929:Cep295 UTSW 9 15,244,358 (GRCm39) missense probably damaging 1.00
R7428:Cep295 UTSW 9 15,244,794 (GRCm39) missense possibly damaging 0.61
R7697:Cep295 UTSW 9 15,266,006 (GRCm39) missense probably benign 0.01
R7963:Cep295 UTSW 9 15,244,737 (GRCm39) missense possibly damaging 0.90
R8055:Cep295 UTSW 9 15,244,905 (GRCm39) missense probably benign 0.00
R8069:Cep295 UTSW 9 15,233,882 (GRCm39) missense possibly damaging 0.94
R8092:Cep295 UTSW 9 15,244,278 (GRCm39) missense probably benign 0.17
R8117:Cep295 UTSW 9 15,245,660 (GRCm39) missense probably damaging 0.99
R8140:Cep295 UTSW 9 15,252,829 (GRCm39) missense probably benign 0.00
R8178:Cep295 UTSW 9 15,244,836 (GRCm39) missense
R8323:Cep295 UTSW 9 15,264,357 (GRCm39) missense probably damaging 0.96
R8323:Cep295 UTSW 9 15,249,529 (GRCm39) missense possibly damaging 0.53
R8339:Cep295 UTSW 9 15,236,846 (GRCm39) missense
R8351:Cep295 UTSW 9 15,234,202 (GRCm39) missense probably damaging 0.99
R8367:Cep295 UTSW 9 15,245,826 (GRCm39) missense probably benign 0.09
R8725:Cep295 UTSW 9 15,243,715 (GRCm39) nonsense probably null
R8919:Cep295 UTSW 9 15,238,007 (GRCm39) missense probably damaging 1.00
R9015:Cep295 UTSW 9 15,244,264 (GRCm39) missense probably benign 0.00
R9054:Cep295 UTSW 9 15,235,551 (GRCm39) missense possibly damaging 0.92
R9088:Cep295 UTSW 9 15,233,815 (GRCm39) missense probably benign 0.09
R9159:Cep295 UTSW 9 15,252,904 (GRCm39) missense probably benign 0.05
R9243:Cep295 UTSW 9 15,243,605 (GRCm39) missense probably benign 0.36
R9408:Cep295 UTSW 9 15,244,619 (GRCm39) missense probably benign 0.00
R9424:Cep295 UTSW 9 15,244,499 (GRCm39) missense probably damaging 0.98
R9455:Cep295 UTSW 9 15,245,046 (GRCm39) missense possibly damaging 0.90
R9607:Cep295 UTSW 9 15,234,009 (GRCm39) missense probably damaging 0.98
R9648:Cep295 UTSW 9 15,234,903 (GRCm39) missense probably benign 0.00
R9659:Cep295 UTSW 9 15,233,846 (GRCm39) missense probably benign 0.19
R9731:Cep295 UTSW 9 15,245,262 (GRCm39) missense possibly damaging 0.94
X0065:Cep295 UTSW 9 15,234,187 (GRCm39) missense probably benign 0.36
Z1176:Cep295 UTSW 9 15,268,993 (GRCm39) missense probably damaging 0.99
Z1177:Cep295 UTSW 9 15,242,113 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AGTAAGGCCTGCCGCATTAG -3'
(R):5'- TCCCATTGCCATGCTTTGGG -3'

Sequencing Primer
(F):5'- CGCATTAGTGAGCACAGGTC -3'
(R):5'- CCATGCTTTGGGAGATATTTGTGGAC -3'
Posted On 2016-03-17