Incidental Mutation 'R6383:Cep295'
ID 515446
Institutional Source Beutler Lab
Gene Symbol Cep295
Ensembl Gene ENSMUSG00000046111
Gene Name centrosomal protein 295
Synonyms 5830418K08Rik, LOC382128
MMRRC Submission 044532-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R6383 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 15228211-15269084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15244050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 213 (T213S)
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 benign
Transcript: ENSMUST00000098979
AA Change: T1469S

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: T1469S

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 damaging
Transcript: ENSMUST00000160946
AA Change: T213S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125494
Gene: ENSMUSG00000046111
AA Change: T213S

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 possibly damaging
Transcript: ENSMUST00000161132
AA Change: T1469S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: T1469S

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: ENSMUST00000162264
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 97% (73/75)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,286,343 (GRCm39) M2497K probably benign Het
Abtb2 C T 2: 103,397,721 (GRCm39) T217I probably damaging Het
Adam29 T A 8: 56,324,543 (GRCm39) N637I probably damaging Het
Adgb T A 10: 10,325,772 (GRCm39) E59V probably damaging Het
Adh7 C T 3: 137,933,778 (GRCm39) R312C probably benign Het
Adprh A G 16: 38,267,814 (GRCm39) I157T probably damaging Het
Ap2b1 T C 11: 83,237,651 (GRCm39) S572P probably damaging Het
Asic1 T C 15: 99,596,761 (GRCm39) L519P probably damaging Het
Atp2a2 G C 5: 122,639,712 (GRCm39) L13V probably benign Het
Bst2 A T 8: 71,989,932 (GRCm39) I47N possibly damaging Het
Cacng6 G A 7: 3,473,509 (GRCm39) probably null Het
Cenpe A G 3: 134,957,289 (GRCm39) E1849G probably damaging Het
Chia1 A G 3: 106,039,127 (GRCm39) T406A probably benign Het
Chmp4c G T 3: 10,432,277 (GRCm39) K62N probably damaging Het
Cldn15 A G 5: 136,996,979 (GRCm39) T7A probably benign Het
Cmpk2 T A 12: 26,528,019 (GRCm39) M412K probably benign Het
Cnnm1 T C 19: 43,453,705 (GRCm39) probably null Het
Cubn A C 2: 13,432,646 (GRCm39) probably null Het
Dop1b T C 16: 93,579,136 (GRCm39) V1668A possibly damaging Het
Erg28 T A 12: 85,863,203 (GRCm39) Y77F probably damaging Het
F830045P16Rik C T 2: 129,378,358 (GRCm39) A9T probably benign Het
Gli3 A G 13: 15,898,140 (GRCm39) D740G probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gpat3 A T 5: 101,041,010 (GRCm39) M357L probably benign Het
Gpr179 A G 11: 97,227,973 (GRCm39) V1394A possibly damaging Het
Grn T A 11: 102,327,621 (GRCm39) probably benign Het
H2-Q6 G A 17: 35,647,359 (GRCm39) probably null Het
Igsf3 A G 3: 101,342,964 (GRCm39) T514A probably benign Het
Il1r1 A G 1: 40,352,495 (GRCm39) D558G possibly damaging Het
Irx4 T C 13: 73,415,832 (GRCm39) M207T possibly damaging Het
Kap T C 6: 133,828,920 (GRCm39) I54V probably benign Het
Kdm2b G A 5: 123,072,841 (GRCm39) R340C probably damaging Het
Lipo3 T A 19: 33,533,831 (GRCm39) M334L probably benign Het
Lmbrd1 C T 1: 24,745,115 (GRCm39) L152F probably damaging Het
Ltbp1 G A 17: 75,666,452 (GRCm39) V1382I probably damaging Het
Map3k4 C T 17: 12,468,470 (GRCm39) D1008N possibly damaging Het
Mcf2l T C 8: 12,929,912 (GRCm39) probably benign Het
Mecom T G 3: 30,051,875 (GRCm39) D180A probably damaging Het
Meis1 T C 11: 18,891,741 (GRCm39) D269G probably benign Het
Myh7 A C 14: 55,226,351 (GRCm39) S430A probably benign Het
Myo1h A G 5: 114,474,325 (GRCm39) I439V probably damaging Het
Nat1 T C 8: 67,944,134 (GRCm39) V170A possibly damaging Het
Nlrp12 A G 7: 3,282,673 (GRCm39) L742P probably damaging Het
Nlrp4c A G 7: 6,069,052 (GRCm39) T318A probably benign Het
Or4d10 T A 19: 12,051,727 (GRCm39) I90F probably damaging Het
Or4k47 T A 2: 111,451,531 (GRCm39) N296I probably benign Het
Or51ai2 A G 7: 103,587,030 (GRCm39) I148V probably benign Het
Or8g33 G T 9: 39,337,530 (GRCm39) T279N probably damaging Het
Or8g35 A T 9: 39,381,926 (GRCm39) L32Q probably damaging Het
Otop3 A G 11: 115,235,898 (GRCm39) E529G probably damaging Het
Parp6 T C 9: 59,531,222 (GRCm39) Y35H probably damaging Het
Pcdhb4 A C 18: 37,441,074 (GRCm39) D128A probably damaging Het
Phldb2 C T 16: 45,569,113 (GRCm39) D1249N probably damaging Het
Pramel30 A T 4: 144,059,717 (GRCm39) *476L probably null Het
Ptpn12 T A 5: 21,192,466 (GRCm39) K765* probably null Het
Ptprb T A 10: 116,182,912 (GRCm39) Y1529* probably null Het
Ptprc A T 1: 138,006,189 (GRCm39) Y798N possibly damaging Het
Sdk2 G A 11: 113,723,091 (GRCm39) T1300I probably damaging Het
Slc28a2b T C 2: 122,355,288 (GRCm39) I555T probably benign Het
Sptbn2 G A 19: 4,782,524 (GRCm39) V487I possibly damaging Het
Sptbn5 A G 2: 119,876,750 (GRCm39) probably benign Het
Srpk1 A G 17: 28,809,036 (GRCm39) S648P probably damaging Het
Stard9 T C 2: 120,496,888 (GRCm39) probably null Het
Tmem135 A T 7: 88,793,878 (GRCm39) I388N probably damaging Het
Top3a A T 11: 60,640,285 (GRCm39) I446N probably benign Het
Trpv1 T C 11: 73,136,862 (GRCm39) S482P probably damaging Het
Ugt3a1 C T 15: 9,306,541 (GRCm39) A230V probably benign Het
Vmn2r15 A C 5: 109,441,092 (GRCm39) Y255* probably null Het
Vmn2r60 A G 7: 41,765,895 (GRCm39) M1V probably null Het
Vmn2r87 A G 10: 130,314,869 (GRCm39) V239A probably damaging Het
Vwce T A 19: 10,636,956 (GRCm39) C679* probably null Het
Zfp385b C T 2: 77,246,185 (GRCm39) A281T probably benign Het
Zfp398 T G 6: 47,843,529 (GRCm39) L395W probably damaging Het
Zfp442 C T 2: 150,293,321 (GRCm39) probably null Het
Zfp606 A G 7: 12,226,871 (GRCm39) S331G probably benign Het
Zfp882 A G 8: 72,668,484 (GRCm39) H437R 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
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
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
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'- CCGTCAGAATTGGCAATGGG -3'
(R):5'- TCTGATACTGAAAGAGCACAAGAAC -3'

Sequencing Primer
(F):5'- AATGGGCAGTGCTACCTGG -3'
(R):5'- GAACTGTGTTCAACCAACAGTG -3'
Posted On 2018-05-04