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 5830418K08Rik, LOC382128
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # IGL01505
Quality Score
Status
Chromosome 9
Chromosomal Location 15228211-15269084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15229345 bp (GRCm39)
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): [ENSMUST00000161132] [ENSMUST00000098979] [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 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 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 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: ENSMUST00000158304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160238
Predicted Effect probably benign
Transcript: ENSMUST00000214054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213235
Predicted Effect probably benign
Transcript: ENSMUST00000213763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213923
Predicted Effect probably benign
Transcript: ENSMUST00000159156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214045
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 noncoding transcript
Transcript: ENSMUST00000216768
Predicted Effect probably benign
Transcript: ENSMUST00000217140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214221
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: 69,080,418 (GRCm39) probably null Het
A2m A G 6: 121,653,906 (GRCm39) N1413S possibly damaging Het
Aadacl4fm4 C T 4: 144,401,188 (GRCm39) V99M probably damaging Het
Arhgap45 A T 10: 79,862,376 (GRCm39) N488Y probably benign Het
Arid4a G A 12: 71,083,889 (GRCm39) D94N probably damaging Het
Atp7a A G X: 105,153,436 (GRCm39) K1114E probably damaging Het
Atp8a2 C T 14: 60,265,512 (GRCm39) V275M probably benign Het
Ceacam12 T C 7: 17,801,357 (GRCm39) V112A probably damaging Het
Chid1 A T 7: 141,093,807 (GRCm39) probably null Het
Clcn5 A T X: 7,036,678 (GRCm39) L268* probably null Het
Cldn17 A G 16: 88,303,591 (GRCm39) I46T possibly damaging Het
Cnot1 A T 8: 96,455,346 (GRCm39) I2025N probably damaging Het
Cntn5 C T 9: 9,706,092 (GRCm39) V574M probably damaging Het
Col14a1 T A 15: 55,318,619 (GRCm39) C1373S unknown Het
Col9a1 A G 1: 24,224,205 (GRCm39) N129S unknown Het
Cp C T 3: 20,031,356 (GRCm39) P598S possibly damaging Het
Cpb1 G A 3: 20,320,410 (GRCm39) R150C probably damaging Het
Cyp2j7 T A 4: 96,115,917 (GRCm39) probably null Het
Dnajb7 T C 15: 81,291,692 (GRCm39) E215G possibly damaging Het
Dock1 G A 7: 134,760,239 (GRCm39) R1634Q possibly damaging Het
Dop1b A G 16: 93,554,004 (GRCm39) T313A possibly damaging Het
Fgd2 T A 17: 29,585,971 (GRCm39) V185E probably damaging Het
Flnb T C 14: 7,902,003 (GRCm38) probably null Het
Fzd7 A G 1: 59,523,062 (GRCm39) E315G probably benign Het
Gjd3 T A 11: 102,691,552 (GRCm39) K150N probably benign Het
Gpihbp1 C T 15: 75,469,977 (GRCm39) probably benign Het
Gpr160 T C 3: 30,950,002 (GRCm39) S25P possibly damaging Het
Grsf1 G A 5: 88,820,608 (GRCm39) R58* probably null Het
Ifit1 T A 19: 34,625,854 (GRCm39) M330K probably benign Het
Igkv1-122 T C 6: 67,994,178 (GRCm39) V22A probably benign Het
Ikbke A T 1: 131,183,048 (GRCm39) D692E probably benign Het
Il15ra T C 2: 11,737,956 (GRCm39) probably benign Het
Il18rap A G 1: 40,576,244 (GRCm39) I252V probably damaging Het
Klra10 C T 6: 130,249,680 (GRCm39) G202R probably damaging Het
Kpna7 A G 5: 144,929,661 (GRCm39) V388A probably damaging Het
L2hgdh A G 12: 69,768,175 (GRCm39) S108P probably damaging Het
Msto1 G A 3: 88,818,050 (GRCm39) T388M probably benign Het
Naip1 T C 13: 100,562,441 (GRCm39) E908G probably damaging Het
Neto1 C A 18: 86,491,814 (GRCm39) D238E possibly damaging Het
Nlrp5 T A 7: 23,117,159 (GRCm39) D294E probably benign Het
Nr3c2 T C 8: 77,635,816 (GRCm39) S306P probably damaging Het
Or8b41 T A 9: 38,055,167 (GRCm39) C240* probably null Het
Pard3 T A 8: 128,050,544 (GRCm39) L202H probably damaging Het
Pdzd2 T C 15: 12,458,293 (GRCm39) N190S probably damaging Het
Pi4ka T C 16: 17,127,222 (GRCm39) D1077G probably benign Het
Pmfbp1 A C 8: 110,240,543 (GRCm39) L208F probably damaging Het
Pms1 C T 1: 53,246,130 (GRCm39) D470N probably benign Het
Prdm10 T C 9: 31,238,578 (GRCm39) F108L probably benign Het
Rab11fip1 A T 8: 27,644,804 (GRCm39) M327K possibly damaging Het
Slc37a4 T A 9: 44,311,261 (GRCm39) L184Q probably damaging Het
Smdt1 T C 15: 82,232,094 (GRCm39) probably benign Het
Smg6 A G 11: 75,047,117 (GRCm39) Y1270C probably damaging Het
Speer4f2 T A 5: 17,581,565 (GRCm39) V169E possibly damaging Het
Stpg2 C T 3: 139,023,214 (GRCm39) A410V probably benign Het
Tnrc6b T A 15: 80,764,164 (GRCm39) D555E probably benign Het
Tsg101 A G 7: 46,558,808 (GRCm39) Y46H probably damaging Het
Vmn2r111 G A 17: 22,767,553 (GRCm39) S648L probably benign Het
Vmn2r73 T A 7: 85,507,267 (GRCm39) R682* probably null Het
Xkr5 A T 8: 18,983,514 (GRCm39) I676N probably 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
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
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
Posted On 2013-12-03