Incidental Mutation 'R9015:Cep295'
ID 685922
Institutional Source Beutler Lab
Gene Symbol Cep295
Ensembl Gene ENSMUSG00000046111
Gene Name centrosomal protein 295
Synonyms 5830418K08Rik, LOC382128
MMRRC Submission 068845-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R9015 (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 C at 15244264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 1397 (I1397M)
Ref Sequence ENSEMBL: ENSMUSP00000123788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098979] [ENSMUST00000161132]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000098979
AA Change: I1397M

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: I1397M

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
SMART Domains Protein: ENSMUSP00000125494
Gene: ENSMUSG00000046111
AA Change: I141M

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 benign
Transcript: ENSMUST00000161132
AA Change: I1397M

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: I1397M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (93/93)
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,136,688 (GRCm39) probably benign Het
Adamtsl1 A G 4: 86,150,847 (GRCm39) D335G probably damaging Het
Adcy8 T C 15: 64,597,206 (GRCm39) probably benign Het
Alas1 A T 9: 106,113,670 (GRCm39) I525N probably benign Het
Aoah A T 13: 21,184,197 (GRCm39) silent Het
Aox1 G A 1: 58,382,851 (GRCm39) V1044M probably damaging Het
Apcdd1 A T 18: 63,083,157 (GRCm39) Y329F possibly damaging Het
Arhgap10 A C 8: 77,985,687 (GRCm39) C727G probably benign Het
Arid4a G A 12: 71,122,168 (GRCm39) D528N possibly damaging Het
Atp8a1 A G 5: 67,887,250 (GRCm39) V611A Het
BC004004 T C 17: 29,517,637 (GRCm39) F284L probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cep63 A G 9: 102,496,111 (GRCm39) S99P probably damaging Het
Coq3 T A 4: 21,899,107 (GRCm39) S147T probably benign Het
Crym A T 7: 119,801,090 (GRCm39) S20T probably benign Het
Ctr9 T A 7: 110,643,108 (GRCm39) N493K probably benign Het
Dchs2 A G 3: 83,188,751 (GRCm39) I1372V possibly damaging Het
Ddi2 G A 4: 141,412,747 (GRCm39) T55M probably benign Het
Dnah1 T C 14: 30,986,316 (GRCm39) M3724V probably damaging Het
Dst A G 1: 34,326,337 (GRCm39) I4690V probably benign Het
Ect2l T C 10: 18,039,148 (GRCm39) T429A probably benign Het
Eif3c G T 7: 126,155,538 (GRCm39) H577N probably damaging Het
Erg A G 16: 95,162,126 (GRCm39) S334P possibly damaging Het
Faf2 A G 13: 54,796,139 (GRCm39) S127G probably benign Het
Fbxl3 T A 14: 103,329,790 (GRCm39) T141S possibly damaging Het
Fbxw4 T A 19: 45,624,874 (GRCm39) M122L probably benign Het
Fgd4 T C 16: 16,271,941 (GRCm39) M476V probably damaging Het
Flvcr2 A T 12: 85,829,779 (GRCm39) I263F probably benign Het
Gadl1 A T 9: 115,794,705 (GRCm39) R293S probably benign Het
Gm11983 G T 11: 6,787,033 (GRCm39) F31L unknown Het
Gmnn A T 13: 24,940,638 (GRCm39) N70K probably benign Het
Gpr3 A G 4: 132,938,390 (GRCm39) V94A possibly damaging Het
Greb1l A G 18: 10,541,675 (GRCm39) S1141G probably benign Het
Helz2 A T 2: 180,870,792 (GRCm39) V2892E probably damaging Het
Hivep1 T A 13: 42,311,849 (GRCm39) M1363K probably benign Het
Hk1 T A 10: 62,128,118 (GRCm39) T336S possibly damaging Het
Hpgds A T 6: 65,115,229 (GRCm39) I18N possibly damaging Het
Insrr T A 3: 87,720,910 (GRCm39) L1056Q probably damaging Het
Ints10 A G 8: 69,260,139 (GRCm39) M288V probably benign Het
Itgb6 T C 2: 60,485,032 (GRCm39) D237G probably damaging Het
Kcnf1 A G 12: 17,225,303 (GRCm39) I306T probably damaging Het
Kdm3b G A 18: 34,963,212 (GRCm39) G1556D probably damaging Het
Kif5b A G 18: 6,216,892 (GRCm39) L477P probably damaging Het
Klf5 T G 14: 99,540,919 (GRCm39) *310G probably null Het
Lnx1 A G 5: 74,780,783 (GRCm39) V246A probably benign Het
Ly75 C T 2: 60,146,442 (GRCm39) E1279K probably benign Het
Lztr1 T A 16: 17,337,305 (GRCm39) C233S probably benign Het
Mfsd6l T G 11: 68,447,536 (GRCm39) I129S probably benign Het
Mrgprx2 T A 7: 48,148,938 (GRCm39) probably benign Het
Ncapd2 A T 6: 125,145,285 (GRCm39) probably benign Het
Or10ag53 T A 2: 87,082,546 (GRCm39) Y88* probably null Het
Or12e9 T A 2: 87,202,485 (GRCm39) M203K possibly damaging Het
Or2a25 G T 6: 42,888,825 (GRCm39) V123L possibly damaging Het
Or8g30 A C 9: 39,230,019 (GRCm39) V297G probably damaging Het
Pde6a A G 18: 61,397,047 (GRCm39) H631R probably damaging Het
Pfkl C T 10: 77,824,794 (GRCm39) G665D probably damaging Het
Pik3ap1 T A 19: 41,270,430 (GRCm39) E753V probably damaging Het
Pik3cd G T 4: 149,740,055 (GRCm39) R502S probably benign Het
Piwil2 T A 14: 70,627,984 (GRCm39) I762L probably benign Het
Pkd1 T A 17: 24,784,636 (GRCm39) L394* probably null Het
Plekhb2 A G 1: 34,916,046 (GRCm39) D195G probably benign Het
Plppr5 T C 3: 117,456,103 (GRCm39) M208T probably damaging Het
Polr2i G A 7: 29,932,513 (GRCm39) V115I unknown Het
Prkacb T C 3: 146,456,239 (GRCm39) S187G probably null Het
Prkag3 G T 1: 74,780,353 (GRCm39) H437Q probably benign Het
Prlr T A 15: 10,319,352 (GRCm39) Y94N probably damaging Het
Prmt6 T C 3: 110,157,214 (GRCm39) I358M probably benign Het
Psd4 A G 2: 24,287,492 (GRCm39) R475G Het
Rad51b G A 12: 79,347,417 (GRCm39) C27Y probably damaging Het
Scfd2 A G 5: 74,691,625 (GRCm39) L219P probably damaging Het
Scn5a G A 9: 119,381,142 (GRCm39) probably benign Het
Sec24d T C 3: 123,121,287 (GRCm39) V391A probably benign Het
Selenbp2 T A 3: 94,607,332 (GRCm39) L251Q probably damaging Het
Sh3rf1 T C 8: 61,827,202 (GRCm39) V652A probably benign Het
Slc11a2 A G 15: 100,301,186 (GRCm39) V289A probably benign Het
Smim29 T C 17: 27,783,223 (GRCm39) D48G probably benign Het
Sox8 T A 17: 25,789,135 (GRCm39) Y121F probably damaging Het
Taar7a A T 10: 23,868,733 (GRCm39) I216N probably damaging Het
Tanc1 T A 2: 59,622,224 (GRCm39) S448T probably benign Het
Tas2r119 G A 15: 32,178,226 (GRCm39) G264D probably damaging Het
Trav7-6 A G 14: 53,954,604 (GRCm39) K65E probably benign Het
Trim17 A G 11: 58,856,057 (GRCm39) E38G probably damaging Het
Trub2 A T 2: 29,668,276 (GRCm39) probably benign Het
Ttn T A 2: 76,571,964 (GRCm39) M26310L probably damaging Het
Unc13c T G 9: 73,453,322 (GRCm39) I1823L probably benign Het
Vav2 C A 2: 27,160,151 (GRCm39) E728* probably null Het
Virma A G 4: 11,540,494 (GRCm39) D1465G probably benign Het
Vmn2r72 T G 7: 85,398,388 (GRCm39) M531L probably benign Het
Vwa3b G A 1: 37,203,597 (GRCm39) V59I possibly damaging Het
Xrcc1 G A 7: 24,271,642 (GRCm39) E542K probably benign Het
Zdhhc6 T G 19: 55,287,318 (GRCm39) T381P probably benign Het
Zdhhc8 T C 16: 18,041,141 (GRCm39) S740G probably damaging Het
Zfp106 T C 2: 120,364,019 (GRCm39) K819R 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
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
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'- GGAAACACCAACCCTTCTTGG -3'
(R):5'- GAAGATATCCCAGCTCATCCCG -3'

Sequencing Primer
(F):5'- CCTTCTTGGGCTTTCTCAGTAGAG -3'
(R):5'- CGCCTCAACAAGACAGTTTGAAGG -3'
Posted On 2021-10-11