Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01510:Cep295'

89185

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep295

Ensembl Gene

ENSMUSG00000046111

Gene Name

centrosomal protein 295

Synonyms

LOC382128, 5830418K08Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.949) question?

Stock #

IGL01510

Quality Score

Status

Chromosome

Chromosomal Location

15316915-15357788 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 15354626 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 29 (R29*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098979] [ENSMUST00000161132]

Predicted Effect

probably null
Transcript: ENSMUST00000098979
AA Change: R77*

SMART Domains

Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: R77*

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

noncoding transcript
Transcript: ENSMUST00000160692

Predicted Effect

probably null
Transcript: ENSMUST00000161132
AA Change: R77*

SMART Domains

Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: R77*

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 null
Transcript: ENSMUST00000161795
AA Change: R29*

SMART Domains

Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: R29*

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

noncoding transcript
Transcript: ENSMUST00000162689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163010

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,143,979	Q6R	probably damaging	Het
Adam5	A	T	8: 24,804,465	C373S	probably damaging	Het
Adgre4	T	C	17: 55,818,760		probably null	Het
Akap10	A	T	11: 61,878,020	M614K	possibly damaging	Het
Amigo2	T	C	15: 97,245,081	T487A	probably benign	Het
Asap1	T	C	15: 64,158,928	D300G	probably damaging	Het
Atp4a	C	A	7: 30,720,791	L788M	probably benign	Het
Bcl3	T	A	7: 19,809,614	H309L	probably damaging	Het
Cblc	T	C	7: 19,785,275	N376S	probably benign	Het
Cd200r2	A	T	16: 44,909,311	I110L	probably benign	Het
Ceacam3	T	C	7: 17,159,842	M426T	probably benign	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Ctps	G	T	4: 120,558,844	T194K	probably damaging	Het
Cul3	A	G	1: 80,282,679	S318P	probably damaging	Het
Fasl	A	T	1: 161,781,953	S155T	possibly damaging	Het
Gldc	C	T	19: 30,113,721		probably null	Het
Gpr21	T	A	2: 37,518,421	C326*	probably null	Het
Gtf2a1	A	G	12: 91,567,833	S216P	probably benign	Het
Hoxb5	A	T	11: 96,303,992	S127C	possibly damaging	Het
Htt	A	T	5: 34,907,512	Q3023L	probably damaging	Het
Kalrn	T	A	16: 34,235,330	H855L	possibly damaging	Het
Lars	T	C	18: 42,242,109	I289V	probably benign	Het
Lrig3	C	A	10: 126,008,698	T677K	probably damaging	Het
Mapk7	A	T	11: 61,491,160	W309R	probably damaging	Het
Mmp12	A	G	9: 7,358,307	T468A	possibly damaging	Het
Muc5b	A	T	7: 141,859,061	N1915Y	unknown	Het
Naprt	A	G	15: 75,890,988		probably benign	Het
Nfatc1	T	C	18: 80,698,188	Y199C	probably damaging	Het
Olfr857	A	T	9: 19,713,279	I151F	probably benign	Het
Olfr919	T	C	9: 38,697,905	I158V	probably benign	Het
Phip	T	A	9: 82,913,871	I566F	probably benign	Het
Pnpla3	T	A	15: 84,171,072		probably benign	Het
Ptpn13	C	T	5: 103,562,300	T1567I	probably damaging	Het
Ptpn20	A	G	14: 33,638,386		probably null	Het
Ptprq	G	T	10: 107,712,048	T163K	probably damaging	Het
Slc8a1	A	G	17: 81,648,365	C415R	probably damaging	Het
Slco4c1	A	G	1: 96,867,953	S127P	probably damaging	Het
Tcerg1l	A	T	7: 138,394,305		probably benign	Het
Thbd	C	T	2: 148,406,974	V325M	probably damaging	Het
Trim37	G	A	11: 87,177,860	R344H	probably damaging	Het
Ttn	T	C	2: 76,872,765		probably benign	Het
Uvrag	G	A	7: 99,004,589	Q65*	probably null	Het
Wrap53	G	A	11: 69,562,740	S342L	possibly damaging	Het
Zbtb11	T	G	16: 55,990,343	V288G	probably damaging	Het

Other mutations in Cep295

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Cep295	APN	9	15326072	splice site	probably null
IGL00769:Cep295	APN	9	15326144	missense	probably damaging	1.00
IGL00771:Cep295	APN	9	15322565	missense	probably damaging	1.00
IGL00850:Cep295	APN	9	15322852	missense	probably benign	0.36
IGL01505:Cep295	APN	9	15318049	missense	probably benign	0.08
IGL01759:Cep295	APN	9	15323559	unclassified	probably null
IGL02415:Cep295	APN	9	15353020	missense	probably damaging	1.00
IGL02447:Cep295	APN	9	15332511	missense	probably damaging	0.98
IGL02502:Cep295	APN	9	15350913	splice site	probably benign
IGL02665:Cep295	APN	9	15326632	splice site	probably benign
IGL02718:Cep295	APN	9	15325753	splice site	probably null
IGL02995:Cep295	APN	9	15333312	missense	probably damaging	1.00
IGL03024:Cep295	APN	9	15325572	missense	probably benign
R0196:Cep295	UTSW	9	15338213	missense	probably damaging	0.96
R0398:Cep295	UTSW	9	15354736	missense	possibly damaging	0.90
R0595:Cep295	UTSW	9	15332191	nonsense	probably null
R0610:Cep295	UTSW	9	15322754	missense	possibly damaging	0.81
R0616:Cep295	UTSW	9	15332322	nonsense	probably null
R0840:Cep295	UTSW	9	15334315	missense	probably benign	0.02
R1215:Cep295	UTSW	9	15327882	missense	probably benign	0.00
R1376:Cep295	UTSW	9	15340868	splice site	probably benign
R1381:Cep295	UTSW	9	15322565	missense	probably benign	0.02
R1484:Cep295	UTSW	9	15334784	missense	probably damaging	0.99
R1557:Cep295	UTSW	9	15332010	nonsense	probably null
R1655:Cep295	UTSW	9	15340883	missense	probably damaging	0.99
R1682:Cep295	UTSW	9	15333921	missense	probably benign	0.02
R1700:Cep295	UTSW	9	15340883	missense	probably damaging	0.99
R1734:Cep295	UTSW	9	15340883	missense	probably damaging	0.99
R1736:Cep295	UTSW	9	15340883	missense	probably damaging	0.99
R1743:Cep295	UTSW	9	15340883	missense	probably damaging	0.99
R1765:Cep295	UTSW	9	15327904	missense	probably damaging	1.00
R1889:Cep295	UTSW	9	15332103	missense	possibly damaging	0.94
R1895:Cep295	UTSW	9	15332103	missense	possibly damaging	0.94
R1994:Cep295	UTSW	9	15340883	missense	probably damaging	0.99
R1995:Cep295	UTSW	9	15340883	missense	probably damaging	0.99
R2071:Cep295	UTSW	9	15341564	missense	probably damaging	1.00
R2161:Cep295	UTSW	9	15353058	missense	probably damaging	0.99
R2195:Cep295	UTSW	9	15332321	missense	probably damaging	0.99
R2354:Cep295	UTSW	9	15334784	missense	possibly damaging	0.92
R2427:Cep295	UTSW	9	15334238	missense	probably damaging	1.00
R2992:Cep295	UTSW	9	15332747	missense	probably damaging	1.00
R3873:Cep295	UTSW	9	15333365	missense	probably damaging	1.00
R3981:Cep295	UTSW	9	15317067	utr 3 prime	probably benign
R4201:Cep295	UTSW	9	15332538	missense	probably benign	0.19
R4297:Cep295	UTSW	9	15322654	missense	probably benign	0.19
R4543:Cep295	UTSW	9	15335253	missense	possibly damaging	0.94
R4584:Cep295	UTSW	9	15334799	missense	possibly damaging	0.96
R4724:Cep295	UTSW	9	15330832	missense	probably damaging	1.00
R4878:Cep295	UTSW	9	15334956	missense	probably benign	0.11
R4884:Cep295	UTSW	9	15351760	missense	probably damaging	1.00
R4934:Cep295	UTSW	9	15333160	missense	probably damaging	0.97
R4990:Cep295	UTSW	9	15332138	missense	probably damaging	1.00
R5057:Cep295	UTSW	9	15322683	missense	probably benign	0.00
R5153:Cep295	UTSW	9	15357629	missense	probably benign	0.32
R5180:Cep295	UTSW	9	15332120	missense	probably benign
R5285:Cep295	UTSW	9	15322591	missense	probably benign	0.14
R5360:Cep295	UTSW	9	15326733	missense	probably damaging	1.00
R5419:Cep295	UTSW	9	15324237	missense	probably damaging	0.98
R5432:Cep295	UTSW	9	15351695	missense	possibly damaging	0.95
R5625:Cep295	UTSW	9	15340891	missense	probably damaging	0.99
R5637:Cep295	UTSW	9	15333812	unclassified	probably null
R5645:Cep295	UTSW	9	15332794	missense	probably damaging	0.98
R5645:Cep295	UTSW	9	15335108	missense	possibly damaging	0.89
R5678:Cep295	UTSW	9	15322858	missense	probably damaging	0.99
R5688:Cep295	UTSW	9	15331986	missense	probably damaging	1.00
R5807:Cep295	UTSW	9	15332532	missense	probably damaging	1.00
R5824:Cep295	UTSW	9	15325656	missense	possibly damaging	0.90
R5837:Cep295	UTSW	9	15346984	missense	probably damaging	0.99
R5915:Cep295	UTSW	9	15341479	missense	probably damaging	1.00
R5988:Cep295	UTSW	9	15341474	missense	probably damaging	1.00
R6239:Cep295	UTSW	9	15322631	missense	possibly damaging	0.46
R6332:Cep295	UTSW	9	15334914	missense	possibly damaging	0.90
R6383:Cep295	UTSW	9	15332754	missense	probably damaging	0.99
R6737:Cep295	UTSW	9	15332351	missense	possibly damaging	0.90
R6929:Cep295	UTSW	9	15333062	missense	probably damaging	1.00
R7428:Cep295	UTSW	9	15333498	missense	possibly damaging	0.61
X0065:Cep295	UTSW	9	15322891	missense	probably benign	0.36

Posted On

2013-12-03