Incidental Mutation 'R1557:Cep295'
ID 170352
Institutional Source Beutler Lab
Gene Symbol Cep295
Ensembl Gene ENSMUSG00000046111
Gene Name centrosomal protein 295
Synonyms 5830418K08Rik, LOC382128
MMRRC Submission 039596-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R1557 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 15228211-15269084 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 15243306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 1669 (Q1669*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098979] [ENSMUST00000161132]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000058041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000059410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000066038
Predicted Effect probably null
Transcript: ENSMUST00000098979
AA Change: Q1717*
SMART Domains Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: Q1717*

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 probably null
Transcript: ENSMUST00000160946
AA Change: Q461*
SMART Domains Protein: ENSMUSP00000125494
Gene: ENSMUSG00000046111
AA Change: Q461*

DomainStartEndE-ValueType
coiled coil region 92 119 N/A INTRINSIC
low complexity region 282 293 N/A INTRINSIC
low complexity region 356 370 N/A INTRINSIC
coiled coil region 451 480 N/A INTRINSIC
low complexity region 828 843 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000161132
AA Change: Q1717*
SMART Domains Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: Q1717*

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 null
Transcript: ENSMUST00000161795
AA Change: Q1669*
SMART Domains Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: Q1669*

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: ENSMUST00000161533
Predicted Effect probably benign
Transcript: ENSMUST00000162264
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 96% (75/78)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A C 1: 53,221,025 (GRCm39) D68E possibly damaging Het
Abca3 T C 17: 24,618,954 (GRCm39) V870A possibly damaging Het
Aldh3a2 A T 11: 61,139,885 (GRCm39) F416I probably damaging Het
Armc6 A T 8: 70,678,098 (GRCm39) L77Q possibly damaging Het
Asb17 A G 3: 153,556,570 (GRCm39) I226V probably benign Het
Aspm A G 1: 139,396,406 (GRCm39) I862V probably benign Het
Atr T A 9: 95,753,502 (GRCm39) D701E probably damaging Het
Baz1b C T 5: 135,247,097 (GRCm39) L849F possibly damaging Het
Cbr1 T C 16: 93,405,677 (GRCm39) V97A probably benign Het
Cfap54 T C 10: 92,820,089 (GRCm39) T1242A possibly damaging Het
Chrm3 T A 13: 9,928,350 (GRCm39) T229S possibly damaging Het
Cimip4 C A 15: 78,270,474 (GRCm39) R98M probably damaging Het
Cnga3 A G 1: 37,300,066 (GRCm39) Y300C probably damaging Het
Col14a1 A C 15: 55,251,975 (GRCm39) I544L unknown Het
Crocc T C 4: 140,752,776 (GRCm39) E1208G probably damaging Het
Cyp2j8 A T 4: 96,358,713 (GRCm39) probably benign Het
Dcbld2 T C 16: 58,285,713 (GRCm39) I624T possibly damaging Het
Ddah1 A C 3: 145,597,227 (GRCm39) I258L probably benign Het
Dnah6 G A 6: 73,026,114 (GRCm39) Q3460* probably null Het
Dync2h1 T A 9: 7,140,911 (GRCm39) D1372V probably damaging Het
Egln1 G A 8: 125,674,980 (GRCm39) R272* probably null Het
Elf1 A G 14: 79,804,620 (GRCm39) D95G possibly damaging Het
Fkbp5 A G 17: 28,621,729 (GRCm39) F374L probably damaging Het
Fli1 T C 9: 32,372,540 (GRCm39) probably benign Het
Gabbr2 T C 4: 46,846,436 (GRCm39) T158A probably damaging Het
Gp2 A C 7: 119,049,302 (GRCm39) Y412D probably damaging Het
Hmcn1 A G 1: 150,610,283 (GRCm39) V1462A possibly damaging Het
Ide T C 19: 37,258,160 (GRCm39) probably null Het
Kalrn T C 16: 34,134,648 (GRCm39) K372R possibly damaging Het
Kcnj16 A G 11: 110,916,067 (GRCm39) D243G possibly damaging Het
Kif7 A G 7: 79,363,905 (GRCm39) M1T probably null Het
Klri2 A T 6: 129,709,174 (GRCm39) L226Q probably damaging Het
Kremen1 T C 11: 5,165,373 (GRCm39) probably null Het
Lama3 T C 18: 12,646,788 (GRCm39) probably benign Het
Lmln C A 16: 32,908,581 (GRCm39) R336S probably benign Het
Lrch4 T A 5: 137,635,818 (GRCm39) D266E probably benign Het
Lrrc28 C T 7: 67,209,677 (GRCm39) R174H probably damaging Het
Mib1 T A 18: 10,798,474 (GRCm39) D778E probably damaging Het
Msra T C 14: 64,360,775 (GRCm39) I125V possibly damaging Het
Or10c1 A G 17: 37,522,244 (GRCm39) F167L probably damaging Het
Or4k37 T A 2: 111,158,964 (GRCm39) S67T probably damaging Het
Or4p19 A T 2: 88,242,555 (GRCm39) V149E possibly damaging Het
Or52e18 A G 7: 104,609,747 (GRCm39) F64S probably damaging Het
Or6c75 C A 10: 129,337,491 (GRCm39) T246N probably damaging Het
Or8d23 A G 9: 38,841,955 (GRCm39) M163V possibly damaging Het
Pes1 T A 11: 3,926,824 (GRCm39) Y369N probably damaging Het
Pgam2 T C 11: 5,751,773 (GRCm39) D221G possibly damaging Het
Prl2c5 T C 13: 13,365,265 (GRCm39) V137A possibly damaging Het
Rasal1 T A 5: 120,814,914 (GRCm39) D721E possibly damaging Het
Sass6 G T 3: 116,412,381 (GRCm39) E385D possibly damaging Het
Sema5a A G 15: 32,460,418 (GRCm39) R60G probably benign Het
Sesn1 T C 10: 41,779,762 (GRCm39) S399P probably damaging Het
Skic2 G A 17: 35,067,398 (GRCm39) L47F probably damaging Het
Slc10a2 C T 8: 5,141,755 (GRCm39) V210M probably damaging Het
Slc8a3 C T 12: 81,362,331 (GRCm39) G163S probably damaging Het
Sorbs2 T C 8: 46,212,234 (GRCm39) probably benign Het
Speer4f1 T C 5: 17,684,490 (GRCm39) W173R probably damaging Het
Spon2 C A 5: 33,374,108 (GRCm39) G92W probably damaging Het
Sycp2 A T 2: 178,037,009 (GRCm39) probably benign Het
Tfb1m A G 17: 3,605,241 (GRCm39) V84A probably damaging Het
Tmem18 G T 12: 30,637,198 (GRCm39) probably null Het
Tom1l1 A G 11: 90,547,210 (GRCm39) L290S possibly damaging Het
Tube1 T G 10: 39,021,711 (GRCm39) probably null Het
Ugt2b35 T A 5: 87,155,156 (GRCm39) probably null Het
Unc93b1 T A 19: 3,992,403 (GRCm39) Y269N probably benign Het
Usp16 T C 16: 87,259,030 (GRCm39) probably null Het
Vmn1r38 A T 6: 66,753,370 (GRCm39) S249T probably benign Het
Vmn1r42 T A 6: 89,821,733 (GRCm39) M279L possibly damaging Het
Zdhhc23 T A 16: 43,791,829 (GRCm39) T315S possibly damaging Het
Zfp472 T C 17: 33,194,900 (GRCm39) F12L probably benign Het
Zfr2 T C 10: 81,083,225 (GRCm39) S634P probably benign 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
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
R4884:Cep295 UTSW 9 15,263,056 (GRCm39) missense probably damaging 1.00
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'- ACGATGCCAGTTTTCTCAGCAACTC -3'
(R):5'- CAGCTCCTAATGATGCTGTGATCCC -3'

Sequencing Primer
(F):5'- GTCGTTAGAGAACAGGATCTATCAC -3'
(R):5'- TGTGATCCCAAGATTGCAGGAC -3'
Posted On 2014-04-13