Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02447:Cep295'

294046

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 #

IGL02447

Quality Score

Status

Chromosome

Chromosomal Location

15228211-15269084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15243807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1502 (V1502I)

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: V1550I

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: V1550I

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000160946
AA Change: V294I

SMART Domains

Protein: ENSMUSP00000125494
Gene: ENSMUSG00000046111
AA Change: V294I

Domain	Start	End	E-Value	Type
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: V1550I

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: V1550I

Domain	Start	End	E-Value	Type
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: V1502I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: V1502I

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	T	A	4: 144,401,269 (GRCm39)	I72F	probably benign	Het
Abhd18	T	A	3: 40,888,208 (GRCm39)	F351I	probably benign	Het
Agfg1	T	A	1: 82,859,944 (GRCm39)		probably benign	Het
Antxr2	C	T	5: 98,178,267 (GRCm39)	V48I	possibly damaging	Het
Bcl9l	T	C	9: 44,418,631 (GRCm39)	M823T	probably benign	Het
Card11	G	A	5: 140,892,679 (GRCm39)	H129Y	possibly damaging	Het
Ccr1	A	T	9: 123,763,753 (GRCm39)	V259E	probably benign	Het
Cdk13	G	T	13: 17,947,001 (GRCm39)	P586T	probably benign	Het
Csnk1g3	T	C	18: 54,028,942 (GRCm39)	S32P	probably benign	Het
Dpysl4	G	A	7: 138,678,516 (GRCm39)	R492Q	probably damaging	Het
Duox2	A	G	2: 122,127,949 (GRCm39)	L78P	probably damaging	Het
Gm7361	T	C	5: 26,462,853 (GRCm39)	S32P	probably benign	Het
Grip1	T	A	10: 119,855,976 (GRCm39)	V234E	probably damaging	Het
Herc1	A	T	9: 66,404,610 (GRCm39)	I4477L	possibly damaging	Het
Il18r1	G	A	1: 40,537,497 (GRCm39)		probably null	Het
Itpkb	A	G	1: 180,248,919 (GRCm39)		probably benign	Het
Jag2	T	C	12: 112,876,232 (GRCm39)	Y799C	probably damaging	Het
Jak2	A	G	19: 29,277,014 (GRCm39)	K857R	probably damaging	Het
Kbtbd12	A	T	6: 88,595,676 (GRCm39)	S51R	probably damaging	Het
Kcnc2	T	G	10: 112,291,851 (GRCm39)	D346E	probably damaging	Het
Kcnh1	T	A	1: 191,907,224 (GRCm39)	M92K	possibly damaging	Het
Kcnk1	A	G	8: 126,751,819 (GRCm39)	I142V	probably damaging	Het
Lsm11	T	C	11: 45,828,191 (GRCm39)	N196D	probably damaging	Het
Mpeg1	G	T	19: 12,440,156 (GRCm39)	C538F	probably damaging	Het
Nrap	G	A	19: 56,333,951 (GRCm39)	Q969*	probably null	Het
Nt5el	A	T	13: 105,236,967 (GRCm39)	S73C	probably damaging	Het
Nup205	T	C	6: 35,204,511 (GRCm39)		probably null	Het
Pdcd5	A	G	7: 35,342,110 (GRCm39)	V166A	possibly damaging	Het
Plcb2	A	T	2: 118,543,636 (GRCm39)	I745N	probably damaging	Het
Ptprt	T	C	2: 162,120,027 (GRCm39)	T147A	probably benign	Het
Rbp3	A	T	14: 33,676,460 (GRCm39)	D136V	probably damaging	Het
Ripor3	G	T	2: 167,834,750 (GRCm39)	T247N	probably damaging	Het
Sgcd	A	C	11: 46,870,082 (GRCm39)		probably benign	Het
Slc26a6	T	C	9: 108,734,251 (GRCm39)	Y211H	probably benign	Het
Slc37a3	T	A	6: 39,314,129 (GRCm39)	E494D	probably benign	Het
Smc5	T	C	19: 23,234,856 (GRCm39)	E326G	probably benign	Het
Tctn2	T	C	5: 124,753,316 (GRCm39)		noncoding transcript	Het
Tk2	T	A	8: 104,967,770 (GRCm39)	N93I	probably damaging	Het
Tmed6	A	G	8: 107,792,240 (GRCm39)	F2L	possibly damaging	Het
Tox3	A	G	8: 90,984,781 (GRCm39)		probably benign	Het
Tspan9	T	C	6: 127,941,401 (GRCm39)	Y237C	probably benign	Het
Ubqlnl	A	G	7: 103,797,856 (GRCm39)	L547P	probably damaging	Het
Uggt1	T	C	1: 36,189,223 (GRCm39)	D1421G	probably damaging	Het
Unc80	T	A	1: 66,542,703 (GRCm39)	I319K	possibly damaging	Het
Vac14	A	G	8: 111,380,260 (GRCm39)	D441G	probably benign	Het
Vamp8	C	T	6: 72,365,316 (GRCm39)	V5M	probably damaging	Het
Yeats2	T	A	16: 20,012,429 (GRCm39)	H560Q	probably benign	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp773	G	T	7: 7,139,655 (GRCm39)		probably benign	Het

Other mutations in Cep295

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2015-04-16