Incidental Mutation 'R0610:Cep295'
ID 54627
Institutional Source Beutler Lab
Gene Symbol Cep295
Ensembl Gene ENSMUSG00000046111
Gene Name centrosomal protein 295
Synonyms 5830418K08Rik, LOC382128
MMRRC Submission 038799-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R0610 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 15228211-15269084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 15234050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 2249 (S2249A)
Ref Sequence ENSEMBL: ENSMUSP00000123788 (fasta)
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 probably benign
Transcript: ENSMUST00000098979
AA Change: S2169A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: S2169A

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: ENSMUST00000104206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104318
Predicted Effect probably benign
Transcript: ENSMUST00000159156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160238
Predicted Effect possibly damaging
Transcript: ENSMUST00000161132
AA Change: S2249A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: S2249A

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: ENSMUST00000161795
AA Change: S2121A

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: S2121A

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 unknown
Transcript: ENSMUST00000160946
AA Change: S993A
SMART Domains Protein: ENSMUSP00000125494
Gene: ENSMUSG00000046111
AA Change: S993A

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 noncoding transcript
Transcript: ENSMUST00000161533
Predicted Effect probably benign
Transcript: ENSMUST00000217140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214696
Predicted Effect probably benign
Transcript: ENSMUST00000162264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217407
Meta Mutation Damage Score 0.0634 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 99% (97/98)
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
4930578I06Rik G A 14: 64,223,714 (GRCm39) R21* probably null Het
Abca15 A G 7: 119,965,009 (GRCm39) E757G possibly damaging Het
Abca5 T C 11: 110,192,353 (GRCm39) T720A probably benign Het
Actr5 T A 2: 158,474,376 (GRCm39) probably null Het
Adgrl3 T C 5: 81,841,563 (GRCm39) probably benign Het
Adra1a A G 14: 66,875,241 (GRCm39) D72G probably damaging Het
Ahcyl T C 16: 45,974,264 (GRCm39) E371G probably damaging Het
Ahnak G T 19: 8,985,242 (GRCm39) L2175F probably benign Het
AK157302 A G 13: 21,679,833 (GRCm39) T120A possibly damaging Het
Apol7a G A 15: 77,273,454 (GRCm39) A336V probably benign Het
Asic1 C A 15: 99,596,780 (GRCm39) H525Q probably benign Het
Atxn7l2 T C 3: 108,112,090 (GRCm39) D335G possibly damaging Het
Bpgm G T 6: 34,481,284 (GRCm39) R227L possibly damaging Het
Calm4 T A 13: 3,888,320 (GRCm39) V142E possibly damaging Het
Catsperg1 A T 7: 28,890,044 (GRCm39) L721Q probably damaging Het
Cdh26 A G 2: 178,091,691 (GRCm39) I83M probably damaging Het
Cfhr4 G A 1: 139,629,584 (GRCm39) T799I probably benign Het
Cln3 A G 7: 126,179,361 (GRCm39) F139L probably damaging Het
Cmpk2 T A 12: 26,528,055 (GRCm39) L424Q possibly damaging Het
Col12a1 A T 9: 79,615,130 (GRCm39) V53E probably benign Het
Csmd1 G A 8: 15,968,208 (GRCm39) R3140C possibly damaging Het
Dagla A G 19: 10,248,922 (GRCm39) W11R probably damaging Het
Dbx2 C T 15: 95,522,778 (GRCm39) V310M probably benign Het
Disp2 T A 2: 118,622,717 (GRCm39) C1150S probably benign Het
Dock3 T C 9: 106,900,987 (GRCm39) D326G probably damaging Het
Dph1 G T 11: 75,076,783 (GRCm39) probably benign Het
Dyrk1b C A 7: 27,886,059 (GRCm39) T594K probably damaging Het
Evx2 C A 2: 74,486,331 (GRCm39) A353S probably benign Het
Garin1b T A 6: 29,326,576 (GRCm39) V231E probably benign Het
Greb1 A C 12: 16,746,443 (GRCm39) S1276A probably benign Het
Hhipl1 T A 12: 108,285,661 (GRCm39) C490* probably null Het
Hmmr G T 11: 40,606,729 (GRCm39) T231K probably damaging Het
Hspa4l A C 3: 40,733,832 (GRCm39) E526D probably benign Het
Ibsp A G 5: 104,458,000 (GRCm39) E179G probably benign Het
Ift140 C T 17: 25,254,777 (GRCm39) A150V probably benign Het
Igf2bp2 A G 16: 21,889,059 (GRCm39) S416P probably benign Het
Ighe T C 12: 113,235,363 (GRCm39) K294E unknown Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kng2 T A 16: 22,819,344 (GRCm39) N231Y possibly damaging Het
Lca5 A T 9: 83,281,792 (GRCm39) C331S probably benign Het
Lrrc1 A G 9: 77,379,488 (GRCm39) I101T possibly damaging Het
Lrrk2 A T 15: 91,699,619 (GRCm39) I2489L probably benign Het
Lyz3 A G 10: 117,073,635 (GRCm39) F66S probably benign Het
Mapk9 A C 11: 49,754,400 (GRCm39) N51T probably benign Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Nek2 T A 1: 191,554,627 (GRCm39) V113D probably damaging Het
Nr4a3 C A 4: 48,051,903 (GRCm39) A248E probably benign Het
Nrp1 T C 8: 129,229,099 (GRCm39) I859T probably damaging Het
Olfm5 A T 7: 103,803,652 (GRCm39) Y195* probably null Het
Or13j1 T A 4: 43,706,400 (GRCm39) H56L possibly damaging Het
Or1n2 T A 2: 36,797,671 (GRCm39) W238R probably damaging Het
Or8g35 A G 9: 39,381,119 (GRCm39) L301P probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pcnx2 A G 8: 126,566,426 (GRCm39) W1006R probably damaging Het
Pdpk1 T C 17: 24,317,145 (GRCm39) probably null Het
Ryr2 T A 13: 11,637,838 (GRCm39) H3731L probably damaging Het
Sdr16c5 T G 4: 4,016,116 (GRCm39) E103D possibly damaging Het
Setdb2 A C 14: 59,654,919 (GRCm39) S324A possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc17a8 A T 10: 89,412,488 (GRCm39) I499K probably damaging Het
Slc2a9 T A 5: 38,537,285 (GRCm39) I389F probably damaging Het
Slc30a1 T C 1: 191,641,536 (GRCm39) V394A probably damaging Het
Slc41a2 A G 10: 83,119,592 (GRCm39) I390T possibly damaging Het
Slco1a1 A G 6: 141,864,187 (GRCm39) probably null Het
Slit2 A G 5: 48,433,016 (GRCm39) K1053E possibly damaging Het
Smarca2 T A 19: 26,668,791 (GRCm39) L930Q probably damaging Het
Snx6 T C 12: 54,798,574 (GRCm39) H387R probably damaging Het
Sox5 A T 6: 143,779,165 (GRCm39) M622K possibly damaging Het
Ston1 C A 17: 88,942,709 (GRCm39) N38K possibly damaging Het
Strbp C T 2: 37,474,089 (GRCm39) V658I probably damaging Het
Strn3 T C 12: 51,657,231 (GRCm39) probably null Het
Suco T G 1: 161,687,072 (GRCm39) D96A probably benign Het
Suco A G 1: 161,691,601 (GRCm39) probably benign Het
Sytl2 A T 7: 90,030,061 (GRCm39) probably benign Het
Tmem41b T A 7: 109,580,290 (GRCm39) M25L probably benign Het
Tmem41b T A 7: 109,580,292 (GRCm39) D91V probably damaging Het
Tmem50b C T 16: 91,380,174 (GRCm39) A68T probably damaging Het
Tmprss11e G A 5: 86,855,206 (GRCm39) Q400* probably null Het
Tnfsf13b G A 8: 10,081,661 (GRCm39) probably null Het
Trappc8 A G 18: 20,970,245 (GRCm39) V916A probably damaging Het
Trdn G T 10: 33,350,449 (GRCm39) V673F probably damaging Het
Trim28 G T 7: 12,759,711 (GRCm39) probably benign Het
Txnrd2 T C 16: 18,291,632 (GRCm39) V427A probably damaging Het
Uggt1 T C 1: 36,204,587 (GRCm39) probably benign Het
Vmn1r36 A G 6: 66,693,404 (GRCm39) L51P probably damaging Het
Vmn1r63 T A 7: 5,806,063 (GRCm39) M190L possibly damaging Het
Vmn2r116 T A 17: 23,606,286 (GRCm39) N399K probably damaging Het
Vmn2r117 T C 17: 23,694,488 (GRCm39) N453S probably benign Het
Wbp1l T A 19: 46,643,109 (GRCm39) I370N probably damaging Het
Zfp445 T C 9: 122,682,046 (GRCm39) K632E probably benign Het
Zfp850 C T 7: 27,688,819 (GRCm39) R463H probably damaging Het
Zyg11a A G 4: 108,062,054 (GRCm39) L249P 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
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
Predicted Primers PCR Primer
(F):5'- ACGCTGGCATTCTTCCAGTCAC -3'
(R):5'- CAGCCCTCAACAGAGGATTTGACTC -3'

Sequencing Primer
(F):5'- GGCATTCTTCCAGTCACAATAG -3'
(R):5'- ACAGAGGATTTGACTCCAGCTTG -3'
Posted On 2013-07-11