Incidental Mutation 'IGL01505:Cep295'
ID 89022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep295
Ensembl Gene ENSMUSG00000046111
Gene Name centrosomal protein 295
Synonyms LOC382128, 5830418K08Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # IGL01505
Quality Score
Status
Chromosome 9
Chromosomal Location 15316915-15357788 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15318049 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 2256 (D2256V)
Ref Sequence ENSEMBL: ENSMUSP00000096578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098979] [ENSMUST00000161132] [ENSMUST00000214054] [ENSMUST00000213763] [ENSMUST00000216825]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000058041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000059410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083729
Predicted Effect probably benign
Transcript: ENSMUST00000098979
AA Change: D2256V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: D2256V

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: ENSMUST00000158304
Predicted Effect probably benign
Transcript: ENSMUST00000159156
Predicted Effect probably benign
Transcript: ENSMUST00000161132
AA Change: D2336V

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: D2336V

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 unknown
Transcript: ENSMUST00000160946
AA Change: D1080V
SMART Domains Protein: ENSMUSP00000125494
Gene: ENSMUSG00000046111
AA Change: D1080V

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
SMART Domains Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: D2208V

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: ENSMUST00000198150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160238
Predicted Effect probably benign
Transcript: ENSMUST00000214054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213235
Predicted Effect probably benign
Transcript: ENSMUST00000215749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214427
Predicted Effect probably benign
Transcript: ENSMUST00000213763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216768
Predicted Effect probably benign
Transcript: ENSMUST00000217140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214045
Predicted Effect probably benign
Transcript: ENSMUST00000216825
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T C 18: 68,947,347 (GRCm38) probably null Het
A2m A G 6: 121,676,947 (GRCm38) N1413S possibly damaging Het
Arhgap45 A T 10: 80,026,542 (GRCm38) N488Y probably benign Het
Arid4a G A 12: 71,037,115 (GRCm38) D94N probably damaging Het
Atp7a A G X: 106,109,830 (GRCm38) K1114E probably damaging Het
Atp8a2 C T 14: 60,028,063 (GRCm38) V275M probably benign Het
Ceacam12 T C 7: 18,067,432 (GRCm38) V112A probably damaging Het
Chid1 A T 7: 141,513,894 (GRCm38) probably null Het
Clcn5 A T X: 7,170,439 (GRCm38) L268* probably null Het
Cldn17 A G 16: 88,506,703 (GRCm38) I46T possibly damaging Het
Cnot1 A T 8: 95,728,718 (GRCm38) I2025N probably damaging Het
Cntn5 C T 9: 9,706,087 (GRCm38) V574M probably damaging Het
Col14a1 T A 15: 55,455,223 (GRCm38) C1373S unknown Het
Col9a1 A G 1: 24,185,124 (GRCm38) N129S unknown Het
Cp C T 3: 19,977,192 (GRCm38) P598S possibly damaging Het
Cpb1 G A 3: 20,266,246 (GRCm38) R150C probably damaging Het
Cyp2j7 T A 4: 96,227,680 (GRCm38) probably null Het
Dnajb7 T C 15: 81,407,491 (GRCm38) E215G possibly damaging Het
Dock1 G A 7: 135,158,510 (GRCm38) R1634Q possibly damaging Het
Dopey2 A G 16: 93,757,116 (GRCm38) T313A possibly damaging Het
Fgd2 T A 17: 29,366,997 (GRCm38) V185E probably damaging Het
Flnb T C 14: 7,902,003 (GRCm38) probably null Het
Fzd7 A G 1: 59,483,903 (GRCm38) E315G probably benign Het
Gjc1 T A 11: 102,800,726 (GRCm38) K150N probably benign Het
Gm436 C T 4: 144,674,618 (GRCm38) V99M probably damaging Het
Gpihbp1 C T 15: 75,598,128 (GRCm38) probably benign Het
Gpr160 T C 3: 30,895,853 (GRCm38) S25P possibly damaging Het
Grsf1 G A 5: 88,672,749 (GRCm38) R58* probably null Het
Ifit1 T A 19: 34,648,454 (GRCm38) M330K probably benign Het
Igkv1-122 T C 6: 68,017,194 (GRCm38) V22A probably benign Het
Ikbke A T 1: 131,255,311 (GRCm38) D692E probably benign Het
Il15ra T C 2: 11,733,145 (GRCm38) probably benign Het
Il18rap A G 1: 40,537,084 (GRCm38) I252V probably damaging Het
Klra10 C T 6: 130,272,717 (GRCm38) G202R probably damaging Het
Kpna7 A G 5: 144,992,851 (GRCm38) V388A probably damaging Het
L2hgdh A G 12: 69,721,401 (GRCm38) S108P probably damaging Het
Msto1 G A 3: 88,910,743 (GRCm38) T388M probably benign Het
Naip1 T C 13: 100,425,933 (GRCm38) E908G probably damaging Het
Neto1 C A 18: 86,473,689 (GRCm38) D238E possibly damaging Het
Nlrp5 T A 7: 23,417,734 (GRCm38) D294E probably benign Het
Nr3c2 T C 8: 76,909,187 (GRCm38) S306P probably damaging Het
Olfr890 T A 9: 38,143,871 (GRCm38) C240* probably null Het
Pard3 T A 8: 127,324,063 (GRCm38) L202H probably damaging Het
Pdzd2 T C 15: 12,458,207 (GRCm38) N190S probably damaging Het
Pi4ka T C 16: 17,309,358 (GRCm38) D1077G probably benign Het
Pmfbp1 A C 8: 109,513,911 (GRCm38) L208F probably damaging Het
Pms1 C T 1: 53,206,971 (GRCm38) D470N probably benign Het
Prdm10 T C 9: 31,327,282 (GRCm38) F108L probably benign Het
Rab11fip1 A T 8: 27,154,776 (GRCm38) M327K possibly damaging Het
Slc37a4 T A 9: 44,399,964 (GRCm38) L184Q probably damaging Het
Smdt1 T C 15: 82,347,893 (GRCm38) probably benign Het
Smg6 A G 11: 75,156,291 (GRCm38) Y1270C probably damaging Het
Speer4f2 T A 5: 17,376,567 (GRCm38) V169E possibly damaging Het
Stpg2 C T 3: 139,317,453 (GRCm38) A410V probably benign Het
Tnrc6b T A 15: 80,879,963 (GRCm38) D555E probably benign Het
Tsg101 A G 7: 46,909,060 (GRCm38) Y46H probably damaging Het
Vmn2r111 G A 17: 22,548,572 (GRCm38) S648L probably benign Het
Vmn2r73 T A 7: 85,858,059 (GRCm38) R682* probably null Het
Xkr5 A T 8: 18,933,498 (GRCm38) I676N probably 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
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
R1655:Cep295 UTSW 9 15,340,883 (GRCm38) missense probably damaging 0.99
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
Posted On 2013-12-03