Mutagenetix > Incidental Mutation

Incidental Mutation 'R5807:Cep295'

448591

Institutional Source

Beutler Lab

Gene Symbol

Cep295

Ensembl Gene

ENSMUSG00000046111

Gene Name

centrosomal protein 295

Synonyms

5830418K08Rik, LOC382128

MMRRC Submission

043393-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R5807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15228211-15269084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15243828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 287 (S287P)

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 benign
Transcript: ENSMUST00000098979
AA Change: S1543P

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: S1543P

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

probably damaging
Transcript: ENSMUST00000160946
AA Change: S287P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125494
Gene: ENSMUSG00000046111
AA Change: S287P

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: S1543P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: S1543P

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

possibly damaging
Transcript: ENSMUST00000161795
AA Change: S1495P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: S1495P

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

Meta Mutation Damage Score

0.0962

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,342,651 (GRCm39)	L943P	probably damaging	Het
Abcg5	C	A	17: 84,979,719 (GRCm39)	V214F	probably damaging	Het
Ang	T	A	14: 51,338,886 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,523,546 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,846,696 (GRCm39)		probably benign	Het
Atp11b	T	C	3: 35,866,428 (GRCm39)	I409T	probably damaging	Het
Atp5f1b	G	A	10: 127,924,431 (GRCm39)		probably benign	Het
Atp9a	G	A	2: 168,495,454 (GRCm39)	A660V	probably damaging	Het
Avpr1a	A	G	10: 122,285,376 (GRCm39)	T223A	probably benign	Het
Bmp2k	T	C	5: 97,211,353 (GRCm39)	M507T	unknown	Het
Chrna7	T	A	7: 62,798,349 (GRCm39)	D111V	probably damaging	Het
Clxn	A	T	16: 14,734,836 (GRCm39)	I69F	probably benign	Het
Cnr2	A	G	4: 135,644,747 (GRCm39)	D275G	probably benign	Het
Col28a1	T	A	6: 8,158,144 (GRCm39)	M305L	probably benign	Het
Cpb1	T	A	3: 20,317,906 (GRCm39)	D206V	probably damaging	Het
Cyp2c50	T	C	19: 40,101,944 (GRCm39)	L453S	probably damaging	Het
Ddx52	T	G	11: 83,840,508 (GRCm39)	S284A	probably benign	Het
Eif2ak4	G	T	2: 118,219,332 (GRCm39)	R48L	probably benign	Het
Esrrb	A	G	12: 86,561,175 (GRCm39)	E303G	possibly damaging	Het
Fbxo21	A	G	5: 118,114,933 (GRCm39)	E23G	probably benign	Het
Fcamr	T	C	1: 130,739,263 (GRCm39)	S188P	probably damaging	Het
Fer1l6	C	A	15: 58,462,399 (GRCm39)	S818*	probably null	Het
Fn1	T	C	1: 71,687,218 (GRCm39)	D213G	probably damaging	Het
Gcg	A	G	2: 62,306,069 (GRCm39)	I176T	possibly damaging	Het
Glis1	T	A	4: 107,425,279 (GRCm39)	S109T	probably benign	Het
Gm266	T	C	12: 111,452,173 (GRCm39)	D11G	probably benign	Het
Gm5070	C	A	3: 95,317,965 (GRCm39)		noncoding transcript	Het
Gm8444	T	C	15: 81,727,654 (GRCm39)		probably benign	Het
Golga4	A	G	9: 118,356,198 (GRCm39)	T117A	probably damaging	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Gvin-ps5	T	A	7: 105,929,430 (GRCm39)		noncoding transcript	Het
Herc2	T	A	7: 55,880,667 (GRCm39)	F4766L	probably damaging	Het
Inhbc	C	A	10: 127,193,411 (GRCm39)	E202*	probably null	Het
Kcnu1	C	T	8: 26,339,742 (GRCm39)	T20I	possibly damaging	Het
Klhdc3	T	C	17: 46,988,391 (GRCm39)	D161G	probably damaging	Het
Krt84	T	A	15: 101,438,647 (GRCm39)	K280M	probably damaging	Het
Krtap9-5	T	A	11: 99,839,895 (GRCm39)	C199S	unknown	Het
Mrgprb3	A	G	7: 48,293,110 (GRCm39)	V147A	probably benign	Het
Ndufs6	A	T	13: 73,475,553 (GRCm39)	F48L	probably damaging	Het
Obscn	T	C	11: 58,970,476 (GRCm39)	S2586G	probably damaging	Het
Or10n1	A	G	9: 39,525,759 (GRCm39)	R299G	probably benign	Het
Or13c7b	C	A	4: 43,820,912 (GRCm39)	V150L	probably benign	Het
Or51a25	C	T	7: 102,373,409 (GRCm39)	R96H	possibly damaging	Het
Osbpl6	A	G	2: 76,414,857 (GRCm39)	D416G	probably damaging	Het
Pdilt	A	G	7: 119,099,766 (GRCm39)		probably benign	Het
Phf12	C	A	11: 77,913,252 (GRCm39)	D401E	probably benign	Het
Pla2r1	C	T	2: 60,259,065 (GRCm39)	V1108M	possibly damaging	Het
Prim2	A	G	1: 33,519,487 (GRCm39)		probably benign	Het
Ptpn6	T	C	6: 124,701,947 (GRCm39)	H406R	probably benign	Het
Qpctl	G	T	7: 18,877,132 (GRCm39)	H329N	probably damaging	Het
Ripk3	T	A	14: 56,022,755 (GRCm39)	N390Y	probably damaging	Het
Rnase1	A	G	14: 51,382,907 (GRCm39)	V149A	probably benign	Het
Rtn3	T	A	19: 7,434,192 (GRCm39)	D581V	probably damaging	Het
Slamf1	A	G	1: 171,602,630 (GRCm39)	Y119C	probably damaging	Het
Slc25a34	A	G	4: 141,350,973 (GRCm39)	M12T	probably benign	Het
Tmem38a	A	G	8: 73,333,944 (GRCm39)	Y141C	probably damaging	Het
Tnr	C	T	1: 159,714,500 (GRCm39)	T793I	possibly damaging	Het
Tns3	T	C	11: 8,443,211 (GRCm39)	D384G	probably damaging	Het
Vmn2r116	T	A	17: 23,606,281 (GRCm39)	Y398N	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	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
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
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'- AAGTCCAACTGCTCTGTCATG -3'
(R):5'- TTCACTCTACTGAGAAAGCCCAAG -3'

Sequencing Primer
(F):5'- CTCTGTCATGTTATTCTGCAGAGGC -3'
(R):5'- TCCCAGACCATGTCAATTTGAAGAG -3'

Posted On

2016-12-15