Incidental Mutation 'R2354:Cep295'
ID 246832
Institutional Source Beutler Lab
Gene Symbol Cep295
Ensembl Gene ENSMUSG00000046111
Gene Name centrosomal protein 295
Synonyms LOC382128, 5830418K08Rik
MMRRC Submission 040336-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R2354 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 15316915-15357788 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15334784 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 792 (I792T)
Ref Sequence ENSEMBL: ENSMUSP00000096578 (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 noncoding transcript
Transcript: ENSMUST00000066038
Predicted Effect possibly damaging
Transcript: ENSMUST00000098979
AA Change: I792T

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: I792T

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 benign
Transcript: ENSMUST00000160946
SMART Domains Protein: ENSMUSP00000125494
Gene: ENSMUSG00000046111

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: I792T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: I792T

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 possibly damaging
Transcript: ENSMUST00000161795
AA Change: I744T

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: I744T

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 probably benign
Transcript: ENSMUST00000162264
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 97% (34/35)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444G20Rik G T 10: 22,067,256 (GRCm38) T275K probably benign Het
Ap3b2 C T 7: 81,473,850 (GRCm38) probably benign Het
B4galt3 C A 1: 171,274,043 (GRCm38) H196N probably damaging Het
Bpifb9b C T 2: 154,311,742 (GRCm38) L243F probably benign Het
Cd226 A T 18: 89,246,983 (GRCm38) probably null Het
Cdh15 G A 8: 122,862,024 (GRCm38) R279Q probably damaging Het
Cfap46 T C 7: 139,661,046 (GRCm38) Y469C probably damaging Het
Col9a2 C G 4: 121,054,258 (GRCm38) R599G probably damaging Het
D630045J12Rik G A 6: 38,158,091 (GRCm38) P1385S possibly damaging Het
Ddb1 A T 19: 10,606,973 (GRCm38) M64L probably benign Het
Dyrk1b G A 7: 28,185,372 (GRCm38) R404Q possibly damaging Het
Gal3st2b A G 1: 93,939,786 (GRCm38) T52A probably damaging Het
Galk2 C A 2: 125,931,273 (GRCm38) S208R probably benign Het
Gm6169 G A 13: 97,098,801 (GRCm38) T146I probably damaging Het
Hap1 A T 11: 100,354,715 (GRCm38) I141N probably damaging Het
Hif3a T C 7: 17,041,105 (GRCm38) S523G probably damaging Het
Kirrel C T 3: 87,088,485 (GRCm38) V381I probably damaging Het
Lmbrd1 T C 1: 24,685,541 (GRCm38) S69P probably damaging Het
Lrriq1 C T 10: 103,189,987 (GRCm38) V925M probably damaging Het
Mmp16 A G 4: 18,112,001 (GRCm38) Y459C probably damaging Het
Mtr A G 13: 12,188,157 (GRCm38) probably benign Het
Nadk2 T A 15: 9,085,782 (GRCm38) I167N probably damaging Het
Neo1 A G 9: 58,985,634 (GRCm38) F242L probably benign Het
Pitpnm2 A T 5: 124,122,919 (GRCm38) V1010E probably damaging Het
Shox2 A G 3: 66,981,489 (GRCm38) I23T possibly damaging Het
Slc5a12 T C 2: 110,609,432 (GRCm38) V141A probably damaging Het
Sstr5 A G 17: 25,491,901 (GRCm38) I118T probably benign Het
Taar4 A G 10: 23,961,014 (GRCm38) N174S probably damaging Het
Tpcn2 C A 7: 145,257,218 (GRCm38) G581W probably damaging Het
Umod C T 7: 119,466,193 (GRCm38) V538M probably damaging Het
Vmn2r44 T G 7: 8,370,640 (GRCm38) S517R probably damaging Het
Zc3h12d G T 10: 7,867,938 (GRCm38) V491L probably benign Het
Zfp358 A T 8: 3,495,454 (GRCm38) H12L possibly damaging Het
Zkscan7 A G 9: 122,894,827 (GRCm38) D287G probably benign 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
IGL01505:Cep295 APN 9 15,318,049 (GRCm38) missense probably benign 0.08
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
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
Predicted Primers PCR Primer
(F):5'- TCTTAAGTCACCCTGCTGAGC -3'
(R):5'- ACGTCAGTGGCAGTTCTCTC -3'

Sequencing Primer
(F):5'- AGTCACCCTGCTGAGCTGTAATAG -3'
(R):5'- GCAGTTCTCTCAGGTGGAAAC -3'
Posted On 2014-10-30