Incidental Mutation 'R2161:Cep295'
ID 235160
Institutional Source Beutler Lab
Gene Symbol Cep295
Ensembl Gene ENSMUSG00000046111
Gene Name centrosomal protein 295
Synonyms 5830418K08Rik, LOC382128
MMRRC Submission 040164-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R2161 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 15228211-15269084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 15264354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 97 (E97D)
Ref Sequence ENSEMBL: ENSMUSP00000096578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098979] [ENSMUST00000161132]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000098979
AA Change: E97D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: E97D

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: ENSMUST00000160692
Predicted Effect possibly damaging
Transcript: ENSMUST00000161132
AA Change: E97D

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: E97D

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: E49D

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: E49D

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: ENSMUST00000162689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163010
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A G 15: 11,215,821 (GRCm39) M281V probably damaging Het
Ap1g1 A T 8: 110,570,986 (GRCm39) D423V probably damaging Het
Arel1 A G 12: 84,968,030 (GRCm39) probably null Het
Arhgap33 T C 7: 30,228,075 (GRCm39) probably null Het
Arhgef18 T G 8: 3,489,575 (GRCm39) Y302* probably null Het
Blm T C 7: 80,131,118 (GRCm39) probably null Het
Cep295nl T C 11: 118,223,335 (GRCm39) D503G possibly damaging Het
Chchd2 G T 5: 129,912,989 (GRCm39) A29E probably damaging Het
Cic A G 7: 24,987,559 (GRCm39) probably null Het
Cmtr1 C T 17: 29,921,147 (GRCm39) L798F probably benign Het
Col11a2 C A 17: 34,283,771 (GRCm39) probably benign Het
Crispld2 A G 8: 120,742,078 (GRCm39) Y142C probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dsp G A 13: 38,380,427 (GRCm39) D1792N probably damaging Het
Esp4 C A 17: 40,913,284 (GRCm39) N50K probably benign Het
Fbxo21 T C 5: 118,133,451 (GRCm39) S404P probably damaging Het
Ggnbp2 A G 11: 84,725,259 (GRCm39) F639L probably benign Het
Golph3l G A 3: 95,524,436 (GRCm39) G229D probably damaging Het
Hlx G T 1: 184,459,838 (GRCm39) S433R probably benign Het
Kdm2b T A 5: 123,018,762 (GRCm39) S233C probably damaging Het
Krt14 C T 11: 100,097,939 (GRCm39) G115R unknown Het
Ldb3 A G 14: 34,289,353 (GRCm39) probably null Het
Lrp1 T A 10: 127,391,607 (GRCm39) E2937D probably damaging Het
Mark2 G C 19: 7,260,112 (GRCm39) S111C probably damaging Het
Naa20 T A 2: 145,753,715 (GRCm39) probably null Het
Ndufa8 A T 2: 35,926,527 (GRCm39) W170R probably damaging Het
Nlrp2 A T 7: 5,328,041 (GRCm39) L671I probably damaging Het
Or52e19b T A 7: 103,032,407 (GRCm39) R267S probably benign Het
Or5b108 T A 19: 13,168,673 (GRCm39) I214K probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptpro A G 6: 137,426,885 (GRCm39) D280G probably benign Het
Reps1 A G 10: 17,972,031 (GRCm39) E361G probably damaging Het
Rgs6 A G 12: 83,138,578 (GRCm39) E304G probably damaging Het
Siglece T C 7: 43,308,793 (GRCm39) T187A probably benign Het
Slc5a10 C T 11: 61,610,760 (GRCm39) G5R probably null Het
Sohlh1 A G 2: 25,734,648 (GRCm39) I215T probably benign Het
Stag1 T A 9: 100,771,648 (GRCm39) V691D probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tmed8 A G 12: 87,221,031 (GRCm39) V185A probably damaging Het
Trim71 A G 9: 114,341,840 (GRCm39) F814S probably damaging Het
Trmt9b T C 8: 36,972,804 (GRCm39) C85R probably damaging Het
Tsnax A T 8: 125,742,428 (GRCm39) K52N probably damaging Het
Tubgcp3 T C 8: 12,682,292 (GRCm39) T676A probably benign 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
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'- CAGATGAACTCTCACCACTTACA -3'
(R):5'- GGGGCTCTCATCGAACCTTA -3'

Sequencing Primer
(F):5'- ACATTTTCTTTAGCCTGTCGATG -3'
(R):5'- GTTTAAACCCCCTTCATGTAT -3'
Posted On 2014-10-01