Mutagenetix > Incidental Mutation

Incidental Mutation 'R5913:Cep95'

461134

Institutional Source

Beutler Lab

Gene Symbol

Cep95

Ensembl Gene

ENSMUSG00000018372

Gene Name

centrosomal protein 95

Synonyms

F630025I20Rik, Ccdc45, 4732496G21Rik

MMRRC Submission

044110-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R5913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106789252-106819930 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 106818509 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018516] [ENSMUST00000092517] [ENSMUST00000103067] [ENSMUST00000103068] [ENSMUST00000124898] [ENSMUST00000139297] [ENSMUST00000167787]

AlphaFold

Q8BVV7

Predicted Effect

probably benign
Transcript: ENSMUST00000018516

SMART Domains

Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372

Domain	Start	End	E-Value	Type
low complexity region	389	407	N/A	INTRINSIC
coiled coil region	584	633	N/A	INTRINSIC
coiled coil region	701	793	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092517

SMART Domains

Protein: ENSMUSP00000090177
Gene: ENSMUSG00000018363

Domain	Start	End	E-Value	Type
C2	13	116	1.51e-15	SMART
WW	158	190	1.96e-11	SMART
WW	252	284	2.47e-8	SMART
WW	298	330	4.97e-13	SMART
low complexity region	341	351	N/A	INTRINSIC
HECTc	412	748	1.75e-165	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103067

SMART Domains

Protein: ENSMUSP00000099356
Gene: ENSMUSG00000018363

Domain	Start	End	E-Value	Type
C2	13	103	1e-6	SMART
WW	145	177	1.96e-11	SMART
WW	239	271	2.47e-8	SMART
WW	285	317	4.97e-13	SMART
low complexity region	328	338	N/A	INTRINSIC
HECTc	399	735	1.75e-165	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103068

SMART Domains

Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372

Domain	Start	End	E-Value	Type
low complexity region	346	364	N/A	INTRINSIC
coiled coil region	541	590	N/A	INTRINSIC
coiled coil region	658	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124898

SMART Domains

Protein: ENSMUSP00000122454
Gene: ENSMUSG00000018372

Domain	Start	End	E-Value	Type
coiled coil region	7	87	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131244

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133581

Predicted Effect

probably benign
Transcript: ENSMUST00000139297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151282

Predicted Effect

probably benign
Transcript: ENSMUST00000167787

SMART Domains

Protein: ENSMUSP00000129269
Gene: ENSMUSG00000018363

Domain	Start	End	E-Value	Type
C2	13	116	1.51e-15	SMART
WW	158	190	1.96e-11	SMART
WW	252	284	2.47e-8	SMART
WW	298	330	4.97e-13	SMART
low complexity region	341	351	N/A	INTRINSIC
HECTc	412	748	1.75e-165	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

97% (75/77)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	A	T	9: 110,889,705		probably null	Het
Arhgef19	A	T	4: 141,249,298	H457L	probably benign	Het
Armc3	A	G	2: 19,310,047	Y856C	possibly damaging	Het
Bdp1	A	T	13: 100,051,104	V1585D	probably benign	Het
Bhlhe40	T	G	6: 108,665,193	M366R	possibly damaging	Het
Bora	C	T	14: 99,068,512	S439L	probably benign	Het
Cacnb4	G	A	2: 52,434,784		probably benign	Het
Carm1	T	C	9: 21,587,552	S529P	probably benign	Het
Cd200r1	A	G	16: 44,789,671	I84M	possibly damaging	Het
Cd209a	A	G	8: 3,748,742	S22P	probably benign	Het
Celf2	A	T	2: 7,081,158	M1K	probably null	Het
Cep112	A	G	11: 108,757,688	T783A	probably damaging	Het
Clip4	G	A	17: 71,824,765	R366K	probably benign	Het
Csmd2	A	G	4: 128,551,988	K3284E	probably benign	Het
Csn3	T	A	5: 87,927,611	L12Q	probably damaging	Het
Ctdnep1	T	C	11: 69,988,865	L39P	probably damaging	Het
Cxcl17	C	T	7: 25,402,246	W55*	probably null	Het
Cyp2u1	G	A	3: 131,303,211		probably benign	Het
Dmgdh	A	T	13: 93,752,323	E823V	possibly damaging	Het
Dnah2	T	C	11: 69,448,430	I3078V	probably damaging	Het
Dpp10	A	C	1: 123,384,289	Y446D	probably damaging	Het
Eif2s3y	T	C	Y: 1,017,365	V290A	probably benign	Homo
Fktn	G	A	4: 53,735,035	W224*	probably null	Het
Gm37240	T	C	3: 84,967,598		probably benign	Het
Gm9573	C	T	17: 35,623,231		probably benign	Het
Gpr3	A	G	4: 133,211,178	V61A	probably damaging	Het
Gulo	T	C	14: 66,000,021		probably null	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hectd4	T	A	5: 121,323,974	I968K	possibly damaging	Het
Hmox2	G	T	16: 4,764,868	R155L	probably damaging	Het
Ifnlr1	C	A	4: 135,705,269	Q339K	probably damaging	Het
Ifnlr1	A	T	4: 135,705,270	Q339L	probably damaging	Het
Irf4	T	A	13: 30,757,758	S365T	probably benign	Het
Klrb1a	T	G	6: 128,618,509	D124A	probably damaging	Het
Macf1	A	T	4: 123,476,039	I78N	probably damaging	Het
Mctp1	G	T	13: 76,759,825		probably null	Het
Mxra8	A	T	4: 155,843,303		probably null	Het
Nlrp2	T	A	7: 5,324,903		probably null	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
P2ry13	T	C	3: 59,209,365	T331A	probably benign	Het
Padi2	G	A	4: 140,917,641	R62H	probably benign	Het
Pcdhb15	A	T	18: 37,474,654	Q313L	probably benign	Het
Pcdhga11	A	G	18: 37,755,992	I18V	probably benign	Het
Pcdhga11	A	G	18: 37,758,089	R717G	probably benign	Het
Pcif1	C	A	2: 164,884,492		probably benign	Het
Pkd1l1	T	C	11: 8,863,849	T1501A	probably benign	Het
Plekhg2	C	A	7: 28,364,602	R473L	probably damaging	Het
Plekhn1	T	C	4: 156,222,695	Y466C	probably damaging	Het
Sec22c	A	G	9: 121,690,302	S83P	possibly damaging	Het
Sgcz	T	A	8: 37,526,271	Q224L	possibly damaging	Het
Slc27a1	C	T	8: 71,584,263	P381L	probably benign	Het
Slc8a1	T	A	17: 81,648,002	I536F	probably damaging	Het
Src	T	A	2: 157,466,030		probably null	Het
Sybu	T	A	15: 44,787,621	T96S	probably damaging	Het
Tbc1d22a	T	C	15: 86,351,728	Y363H	probably damaging	Het
Tdrd6	T	C	17: 43,628,411	E582G	possibly damaging	Het
Tmem131	C	A	1: 36,819,128	V713L	probably benign	Het
Tnfsf13b	T	A	8: 10,006,988	L49Q	probably damaging	Het
Trem2	T	A	17: 48,346,633		probably benign	Het
Tspyl3	T	A	2: 153,224,716	M201L	probably benign	Het
Ttl	A	G	2: 129,076,041	D141G	probably benign	Het
Ube2z	A	G	11: 96,061,063	V153A	possibly damaging	Het
Ubr3	A	G	2: 70,021,215	Y1842C	probably damaging	Het
Usp33	T	C	3: 152,380,592	V656A	probably damaging	Het
Vmn2r74	G	A	7: 85,951,890	R847C	probably damaging	Het
Vmo1	A	T	11: 70,514,415	V63D	probably damaging	Het
Zcwpw1	T	A	5: 137,800,007	D155E	probably benign	Het
Zeb1	T	G	18: 5,766,765	S425R	possibly damaging	Het

Other mutations in Cep95

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Cep95	APN	11	106818217	missense	probably damaging	0.98
IGL00988:Cep95	APN	11	106806394	missense	probably benign	0.00
IGL01306:Cep95	APN	11	106813815	missense	probably benign	0.00
IGL01995:Cep95	APN	11	106806371	missense	probably damaging	1.00
IGL02541:Cep95	APN	11	106815581	missense	probably damaging	0.99
ANU23:Cep95	UTSW	11	106813815	missense	probably benign	0.00
R0071:Cep95	UTSW	11	106790728	unclassified	probably benign
R0071:Cep95	UTSW	11	106790728	unclassified	probably benign
R0255:Cep95	UTSW	11	106811271	missense	probably benign	0.10
R0427:Cep95	UTSW	11	106790752	missense	probably benign	0.18
R0436:Cep95	UTSW	11	106818685	missense	probably null	0.98
R0583:Cep95	UTSW	11	106814623	missense	probably benign
R0831:Cep95	UTSW	11	106814704	missense	probably benign	0.00
R1459:Cep95	UTSW	11	106817955	missense	probably damaging	1.00
R1589:Cep95	UTSW	11	106800104	missense	probably benign	0.00
R1627:Cep95	UTSW	11	106809705	missense	probably damaging	1.00
R1768:Cep95	UTSW	11	106806351	nonsense	probably null
R1914:Cep95	UTSW	11	106814638	missense	probably damaging	1.00
R1915:Cep95	UTSW	11	106814638	missense	probably damaging	1.00
R1928:Cep95	UTSW	11	106790728	unclassified	probably benign
R2495:Cep95	UTSW	11	106809282	missense	possibly damaging	0.73
R3157:Cep95	UTSW	11	106809187	splice site	probably benign
R3158:Cep95	UTSW	11	106809187	splice site	probably benign
R3712:Cep95	UTSW	11	106811286	nonsense	probably null
R3881:Cep95	UTSW	11	106806292	missense	probably damaging	0.98
R4739:Cep95	UTSW	11	106815734	missense	probably benign	0.34
R4908:Cep95	UTSW	11	106811346	missense	probably damaging	1.00
R4989:Cep95	UTSW	11	106816654	splice site	probably null
R5925:Cep95	UTSW	11	106812401	missense	probably benign	0.00
R6291:Cep95	UTSW	11	106815596	missense	probably damaging	1.00
R6540:Cep95	UTSW	11	106801502	missense	probably damaging	0.97
R6924:Cep95	UTSW	11	106811197	missense	probably damaging	0.99
R6985:Cep95	UTSW	11	106818703	missense	probably damaging	0.99
R7156:Cep95	UTSW	11	106809224	missense	possibly damaging	0.84
R7940:Cep95	UTSW	11	106796148	missense	probably benign
R8348:Cep95	UTSW	11	106813767	missense	possibly damaging	0.81
R8509:Cep95	UTSW	11	106805050	missense	probably benign	0.08
R8849:Cep95	UTSW	11	106816804	missense
R9284:Cep95	UTSW	11	106813798	missense	probably benign
R9532:Cep95	UTSW	11	106796216	missense	probably damaging	0.98
R9673:Cep95	UTSW	11	106812496	missense	probably benign	0.05
X0028:Cep95	UTSW	11	106812410	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCAGGCTCAGGTAATAATGGACAG -3'
(R):5'- ACTGGAAGGAAGCCAACTGC -3'

Sequencing Primer
(F):5'- CTCAGGTAATAATGGACAGGACAG -3'
(R):5'- CAACTGCAGCCGAGCTTTGAAG -3'

Posted On

2017-02-28