Incidental Mutation 'IGL00769:Cep295'
ID 8492
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep295
Ensembl Gene ENSMUSG00000046111
Gene Name centrosomal protein 295
Synonyms 5830418K08Rik, LOC382128
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # IGL00769
Quality Score
Status
Chromosome 9
Chromosomal Location 15228211-15269084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15237440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1941 (S1941P)
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 probably damaging
Transcript: ENSMUST00000098979
AA Change: S1941P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: S1941P

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 damaging
Transcript: ENSMUST00000161132
AA Change: S1941P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: S1941P

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 damaging
Transcript: ENSMUST00000161795
AA Change: S1893P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: S1893P

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: ENSMUST00000162264
AA Change: S166P
Predicted Effect unknown
Transcript: ENSMUST00000159156
AA Change: S12P
Predicted Effect unknown
Transcript: ENSMUST00000160946
AA Change: S685P
SMART Domains Protein: ENSMUSP00000125494
Gene: ENSMUSG00000046111
AA Change: S685P

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 noncoding transcript
Transcript: ENSMUST00000214427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217407
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,839,039 (GRCm39) V516A possibly damaging Het
Ambp G A 4: 63,062,402 (GRCm39) T279I probably damaging Het
Ankrd28 A G 14: 31,465,322 (GRCm39) V285A possibly damaging Het
Arfgef3 A G 10: 18,536,352 (GRCm39) S220P probably benign Het
Atp9b G T 18: 80,956,068 (GRCm39) H129N probably benign Het
Cdh10 C A 15: 18,985,185 (GRCm39) P283Q possibly damaging Het
Dmbt1 T A 7: 130,684,230 (GRCm39) S575R probably damaging Het
Dock11 A G X: 35,267,715 (GRCm39) N796S possibly damaging Het
Enam A T 5: 88,649,343 (GRCm39) Y284F possibly damaging Het
F8 A T X: 74,377,786 (GRCm39) probably benign Het
Fbxo42 C T 4: 140,907,760 (GRCm39) T140M probably damaging Het
Galnt13 G A 2: 54,770,116 (GRCm39) E303K probably benign Het
Minar2 T C 18: 59,205,349 (GRCm39) S88P probably damaging Het
Mrgprb4 T A 7: 47,848,649 (GRCm39) D93V probably benign Het
Msl3 T A X: 167,451,744 (GRCm39) E215V probably damaging Het
Pglyrp3 A T 3: 91,921,929 (GRCm39) probably benign Het
Prdx1 G A 4: 116,550,162 (GRCm39) D115N probably benign Het
Psd3 A T 8: 68,361,331 (GRCm39) probably benign Het
Rundc1 A G 11: 101,325,100 (GRCm39) D602G probably damaging Het
Slc4a1ap T G 5: 31,711,121 (GRCm39) Y742D probably damaging Het
Spmap1 A G 11: 97,662,407 (GRCm39) F155S probably damaging Het
Ugt1a6a C T 1: 88,066,772 (GRCm39) P193S probably damaging Het
Vmn2r96 G A 17: 18,804,081 (GRCm39) V252M probably benign Het
Wdr53 G A 16: 32,075,315 (GRCm39) W173* probably null Het
Other mutations in Cep295
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Cep295 APN 9 15,237,368 (GRCm39) splice site probably null
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
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
Posted On 2012-12-06