Mutagenetix > Incidental Mutation

Incidental Mutation 'R4878:Cep295'

375067

Institutional Source

Beutler Lab

Gene Symbol

Cep295

Ensembl Gene

ENSMUSG00000046111

Gene Name

centrosomal protein 295

Synonyms

5830418K08Rik, LOC382128

MMRRC Submission

042487-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15228211-15269084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15246252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 735 (W735R)

Ref Sequence

ENSEMBL: ENSMUSP00000123788 (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 benign
Transcript: ENSMUST00000098979
AA Change: W735R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: W735R

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 benign
Transcript: ENSMUST00000160946

SMART Domains

Protein: ENSMUSP00000125494
Gene: ENSMUSG00000046111

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

probably benign
Transcript: ENSMUST00000161132
AA Change: W735R

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: W735R

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 benign
Transcript: ENSMUST00000161795
AA Change: W687R

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: W687R

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	C	A	4: 144,340,415 (GRCm39)	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,761,714 (GRCm39)	N159I	possibly damaging	Het
Agrn	A	T	4: 156,255,302 (GRCm39)	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Atg2a	A	T	19: 6,300,274 (GRCm39)	E694V	probably damaging	Het
Ccndbp1	T	A	2: 120,845,172 (GRCm39)	L363*	probably null	Het
Cdh16	A	T	8: 105,344,696 (GRCm39)	D478E	probably damaging	Het
Cnnm2	C	T	19: 46,847,522 (GRCm39)	P682S	probably benign	Het
Daam2	C	A	17: 49,767,738 (GRCm39)	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,984,543 (GRCm39)	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,456,231 (GRCm39)		probably benign	Het
Efemp2	A	T	19: 5,530,789 (GRCm39)		probably benign	Het
Emilin1	A	G	5: 31,074,410 (GRCm39)	D217G	probably benign	Het
Enpep	A	T	3: 129,070,420 (GRCm39)	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,931,625 (GRCm39)	V623A	probably damaging	Het
Erlin2	T	A	8: 27,517,194 (GRCm39)		probably null	Het
Fbln2	T	C	6: 91,233,977 (GRCm39)		probably null	Het
Gga3	A	T	11: 115,482,147 (GRCm39)	I157N	probably damaging	Het
Gtpbp6	C	T	5: 110,255,177 (GRCm39)		probably benign	Het
Hps4	T	C	5: 112,523,234 (GRCm39)	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,083,567 (GRCm39)	Y51C	probably benign	Het
Kif13b	T	C	14: 65,043,603 (GRCm39)	L1801P	probably benign	Het
Kif16b	T	C	2: 142,689,923 (GRCm39)	I330V	probably damaging	Het
Klb	A	T	5: 65,505,833 (GRCm39)	R27W	probably damaging	Het
Lrif1	A	T	3: 106,642,956 (GRCm39)	K169M	probably damaging	Het
Lrrc37	A	G	11: 103,508,717 (GRCm39)		probably benign	Het
Met	A	G	6: 17,549,058 (GRCm39)	D970G	probably damaging	Het
Mical3	A	T	6: 120,946,348 (GRCm39)	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094 (GRCm39)	N97D	probably benign	Het
Msh5	G	A	17: 35,257,432 (GRCm39)	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,387,292 (GRCm39)	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,325,004 (GRCm39)	G970D	probably damaging	Het
Neb	T	C	2: 52,109,406 (GRCm39)	Y232C	probably damaging	Het
Nefh	A	G	11: 4,891,333 (GRCm39)	S429P	probably damaging	Het
Notch3	C	T	17: 32,366,059 (GRCm39)	G1014D	probably damaging	Het
Nup107	A	T	10: 117,587,323 (GRCm39)	C859S	probably benign	Het
Or1d2	T	C	11: 74,255,674 (GRCm39)	Y60H	probably damaging	Het
Or2n1d	T	G	17: 38,646,518 (GRCm39)	F157V	probably benign	Het
Or5m3b	A	G	2: 85,871,799 (GRCm39)	I47V	probably benign	Het
Otud7b	T	A	3: 96,043,821 (GRCm39)		probably benign	Het
Pde1a	A	T	2: 79,708,483 (GRCm39)	S312T	probably benign	Het
Piwil1	G	T	5: 128,818,045 (GRCm39)	R94L	probably damaging	Het
Pnma2	G	A	14: 67,154,503 (GRCm39)	W309*	probably null	Het
Ppef2	A	C	5: 92,376,599 (GRCm39)		probably null	Het
Rabac1	T	A	7: 24,669,392 (GRCm39)	Q212L	possibly damaging	Het
Rad51	T	C	2: 118,950,973 (GRCm39)		probably benign	Het
Rbm48	A	T	5: 3,641,853 (GRCm39)		probably benign	Het
Rft1	C	T	14: 30,399,761 (GRCm39)	S315L	probably benign	Het
Rgs13	C	T	1: 144,047,217 (GRCm39)	M1I	probably null	Het
Rhbg	A	C	3: 88,154,760 (GRCm39)	S215A	probably benign	Het
Rufy2	A	T	10: 62,837,990 (GRCm39)	N379I	probably damaging	Het
Slc17a1	T	C	13: 24,064,637 (GRCm39)	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,294,501 (GRCm39)	R308C	probably benign	Het
Smo	A	G	6: 29,753,570 (GRCm39)	T149A	probably benign	Het
Sqle	A	G	15: 59,187,934 (GRCm39)	K81E	probably benign	Het
Tfpi	A	G	2: 84,282,899 (GRCm39)		probably null	Het
Tnk2	A	G	16: 32,498,448 (GRCm39)	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,808 (GRCm39)	M1149K	probably benign	Het
Utrn	T	A	10: 12,603,502 (GRCm39)	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971 (GRCm39)	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,699,031 (GRCm39)	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,719,865 (GRCm39)	G184*	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
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'- AAGGAGACGGTTCACTTGGC -3'
(R):5'- GCCAGAGACTGAAACTAAGTCC -3'

Sequencing Primer
(F):5'- AGACGGTTCACTTGGCTTAGAAG -3'
(R):5'- GTCCTAGCAAATATCAACCTGTG -3'

Posted On

2016-03-17