Mutagenetix > Incidental Mutation

Incidental Mutation 'R2071:Cep295'

227142

Institutional Source

Beutler Lab

Gene Symbol

Cep295

Ensembl Gene

ENSMUSG00000046111

Gene Name

centrosomal protein 295

Synonyms

5830418K08Rik, LOC382128

MMRRC Submission

040076-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R2071 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15228211-15269084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15252860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 323 (R323G)

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: ENSMUST00000059410

Predicted Effect

probably damaging
Transcript: ENSMUST00000098979
AA Change: R323G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: R323G

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: ENSMUST00000161132
AA Change: R323G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: R323G

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: R275G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: R275G

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

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,422,474 (GRCm39)	H283Q	probably damaging	Het
2810021J22Rik	A	G	11: 58,767,595 (GRCm39)	K31E	probably damaging	Het
Abcc10	G	C	17: 46,614,491 (GRCm39)	N1477K	probably benign	Het
Adam33	T	C	2: 130,897,266 (GRCm39)	T310A	probably benign	Het
Afm	A	G	5: 90,671,594 (GRCm39)	D92G	probably benign	Het
Arg1	C	T	10: 24,798,561 (GRCm39)	A30T	probably benign	Het
Ash1l	C	G	3: 88,873,510 (GRCm39)	P98A	probably damaging	Het
Atad5	A	T	11: 79,988,878 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,307,488 (GRCm39)	V1474A	probably benign	Het
Atp12a	A	G	14: 56,603,466 (GRCm39)	K24E	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
B3gnt4	A	T	5: 123,649,433 (GRCm39)	H266L	probably benign	Het
Bora	T	C	14: 99,299,714 (GRCm39)	S229P	probably damaging	Het
Ccn1	C	T	3: 145,354,428 (GRCm39)	W161*	probably null	Het
Cdsn	A	T	17: 35,865,591 (GRCm39)	D40V	probably damaging	Het
Chek2	T	C	5: 110,989,112 (GRCm39)		probably benign	Het
Chga	A	T	12: 102,529,122 (GRCm39)	K366N	probably damaging	Het
Chrm5	T	C	2: 112,309,572 (GRCm39)	K515E	probably null	Het
Cmtr1	A	G	17: 29,913,757 (GRCm39)		probably null	Het
Dsg3	T	C	18: 20,669,882 (GRCm39)	L632S	probably damaging	Het
Eif1ad8	T	A	12: 87,563,822 (GRCm39)	F52L	probably benign	Het
Fzd3	A	G	14: 65,473,012 (GRCm39)	F252S	probably damaging	Het
Gas2l2	T	C	11: 83,312,775 (GRCm39)	K846E	probably benign	Het
Gpatch11	T	C	17: 79,148,514 (GRCm39)		probably null	Het
Gucy2g	T	A	19: 55,210,772 (GRCm39)	Y661F	possibly damaging	Het
Hhip	A	G	8: 80,783,931 (GRCm39)	F72L	probably benign	Het
Kat14	T	C	2: 144,231,136 (GRCm39)	L181P	probably damaging	Het
Kifc3	A	T	8: 95,834,981 (GRCm39)		probably null	Het
Kntc1	G	T	5: 123,932,340 (GRCm39)		probably null	Het
Man2b1	G	T	8: 85,812,013 (GRCm39)	V156L	possibly damaging	Het
Mast1	T	C	8: 85,647,823 (GRCm39)	D517G	probably damaging	Het
Mc1r	T	C	8: 124,135,108 (GRCm39)	L287P	possibly damaging	Het
Mctp1	A	T	13: 76,907,843 (GRCm39)	E238V	probably damaging	Het
Mmp12	T	A	9: 7,349,725 (GRCm39)	I52N	probably damaging	Het
Morc1	C	T	16: 48,412,974 (GRCm39)	T705I	probably benign	Het
Mrpl24	T	C	3: 87,830,374 (GRCm39)		probably null	Het
Nap1l1	C	T	10: 111,328,761 (GRCm39)	T230I	possibly damaging	Het
Niban1	T	C	1: 151,512,181 (GRCm39)	F28L	probably damaging	Het
Nmral1	T	A	16: 4,534,211 (GRCm39)	I77F	probably damaging	Het
Nudt13	T	A	14: 20,354,045 (GRCm39)	D36E	probably damaging	Het
Oxsm	A	G	14: 16,241,983 (GRCm38)	L262P	probably benign	Het
Pde10a	A	T	17: 9,180,827 (GRCm39)	I754F	probably benign	Het
Pdzph1	T	C	17: 59,281,092 (GRCm39)	R397G	probably benign	Het
Pgap6	T	C	17: 26,341,017 (GRCm39)	Y176H	probably damaging	Het
Polr1a	T	A	6: 71,953,058 (GRCm39)	V567E	possibly damaging	Het
Pou3f2	A	G	4: 22,488,076 (GRCm39)	V19A	probably benign	Het
Pramel34	T	G	5: 93,784,375 (GRCm39)	Q363P	probably damaging	Het
Pth1r	A	G	9: 110,556,081 (GRCm39)	I264T	probably benign	Het
Ptprn	C	A	1: 75,231,788 (GRCm39)	G504C	probably damaging	Het
Rbak	A	G	5: 143,162,339 (GRCm39)	L8P	probably damaging	Het
Rev3l	T	A	10: 39,700,349 (GRCm39)	D1615E	probably benign	Het
Rhob	A	G	12: 8,549,232 (GRCm39)	M134T	probably benign	Het
Slc10a4	T	C	5: 73,164,840 (GRCm39)	L144P	probably damaging	Het
Slc45a3	T	C	1: 131,905,370 (GRCm39)	L131P	probably damaging	Het
Slf1	T	A	13: 77,252,743 (GRCm39)	E259D	probably benign	Het
Slitrk5	A	G	14: 111,917,621 (GRCm39)	Y415C	probably damaging	Het
Sohlh2	A	G	3: 55,115,043 (GRCm39)	I343V	probably benign	Het
Sorl1	T	C	9: 41,890,753 (GRCm39)	D1922G	possibly damaging	Het
Spats2l	T	A	1: 57,979,623 (GRCm39)	I243N	possibly damaging	Het
Specc1	A	C	11: 62,008,701 (GRCm39)	K152N	probably damaging	Het
Sv2a	G	A	3: 96,101,191 (GRCm39)	A730T	possibly damaging	Het
Tars2	C	A	3: 95,654,950 (GRCm39)	G113C	probably damaging	Het
Tcstv2b	A	T	13: 120,373,836 (GRCm39)	D151E	probably benign	Het
Tep1	T	C	14: 51,091,739 (GRCm39)	K601E	probably benign	Het
Trp53	A	G	11: 69,480,458 (GRCm39)	D278G	probably damaging	Het
Ttc39d	G	A	17: 80,524,030 (GRCm39)	G230R	probably damaging	Het
Tubb2b	T	A	13: 34,312,244 (GRCm39)	Y183F	probably damaging	Het
Ubxn7	T	A	16: 32,191,287 (GRCm39)	C160S	possibly damaging	Het
Vcp	A	G	4: 42,995,894 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,658,995 (GRCm39)	F70L	probably benign	Het
Vmn1r49	C	T	6: 90,049,184 (GRCm39)	V273I	probably benign	Het
Vmn2r103	A	T	17: 20,014,056 (GRCm39)	I283L	probably benign	Het
Xpr1	T	C	1: 155,166,026 (GRCm39)	T574A	probably benign	Het
Zfp408	A	G	2: 91,476,363 (GRCm39)	F364L	probably damaging	Het
Zfyve26	A	G	12: 79,334,220 (GRCm39)	L266P	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TTCTAAGTTTAAAGCATGAGGGTCC -3'
(R):5'- TGTCTTAGGTCAGAACAAATGGG -3'

Sequencing Primer
(F):5'- GAGGGTCCTTTTTATACAATAGCTC -3'
(R):5'- TCTTAGGTCAGAACAAATGGGAGAGG -3'

Posted On

2014-09-17