Mutagenetix > Incidental Mutation

Incidental Mutation 'R1459:Cep95'

161983

Institutional Source

Beutler Lab

Gene Symbol

Cep95

Ensembl Gene

ENSMUSG00000018372

Gene Name

centrosomal protein 95

Synonyms

F630025I20Rik, Ccdc45, 4732496G21Rik

MMRRC Submission

039514-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

R1459 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106789252-106819930 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106817955 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 26 (S26L)

Ref Sequence

ENSEMBL: ENSMUSP00000122454 (fasta)

Gene Model

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

AlphaFold

Q8BVV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000018516
AA Change: S732L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
AA Change: S732L

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 damaging
Transcript: ENSMUST00000103068
AA Change: S689L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
AA Change: S689L

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 damaging
Transcript: ENSMUST00000124898
AA Change: S26L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122454
Gene: ENSMUSG00000018372
AA Change: S26L

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

0.6467

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

96% (87/91)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	C	T	4: 62,532,341	R51W	probably damaging	Het
Abcb1a	T	A	5: 8,702,920	L557Q	probably damaging	Het
Abcb4	T	C	5: 8,918,662	F334L	possibly damaging	Het
Adamts14	T	A	10: 61,198,804	T1102S	probably benign	Het
Adamtsl1	T	C	4: 86,425,865	Y1719H	probably damaging	Het
Adcyap1	T	C	17: 93,200,122		probably null	Het
Ankrd13c	T	A	3: 157,972,310	L219Q	probably damaging	Het
Ano3	C	A	2: 110,880,829	A97S	probably benign	Het
Apaf1	T	C	10: 91,062,160	N245S	probably benign	Het
Apob	A	G	12: 8,006,047	T1510A	probably benign	Het
Apob	A	G	12: 8,011,937	D3473G	possibly damaging	Het
Arfgap3	G	A	15: 83,306,937	T12I	probably benign	Het
Bend4	A	G	5: 67,400,075	V466A	probably damaging	Het
Bend7	G	A	2: 4,744,428	E119K	probably damaging	Het
Capn5	G	T	7: 98,131,842	R243S	possibly damaging	Het
Cd84	A	G	1: 171,851,943	I63V	probably benign	Het
Cd86	T	A	16: 36,628,988	T16S	probably benign	Het
Cdc42bpb	A	G	12: 111,296,300		probably benign	Het
Cldn19	C	T	4: 119,255,613	A14V	probably damaging	Het
Cluap1	T	A	16: 3,937,589	M356K	probably damaging	Het
Coq7	C	T	7: 118,510,037	G263S	unknown	Het
Ctnnd2	A	C	15: 30,847,299	T679P	probably damaging	Het
Dnah10	A	G	5: 124,743,686	D528G	possibly damaging	Het
Dvl1	T	A	4: 155,854,019	N133K	probably damaging	Het
Efcab7	T	G	4: 99,912,547	H550Q	probably null	Het
Fastkd5	C	T	2: 130,614,797	M624I	probably damaging	Het
Fbxo42	T	C	4: 141,167,762	V12A	probably benign	Het
Fopnl	G	A	16: 14,304,516	T128I	possibly damaging	Het
Gabarapl1	T	A	6: 129,538,672	M91K	possibly damaging	Het
Gas7	A	G	11: 67,662,076	N154S	probably damaging	Het
Gm21814	T	A	6: 149,582,152		noncoding transcript	Het
Gm6904	T	A	14: 59,244,778	E175D	probably damaging	Het
Gnl3	G	A	14: 31,017,846	R12C	probably damaging	Het
Golga2	T	G	2: 32,297,795		probably null	Het
Grk3	T	A	5: 112,915,012	R656S	probably benign	Het
Gsap	T	A	5: 21,207,238		probably benign	Het
H60c	T	C	10: 3,260,240	Q103R	probably benign	Het
Hnrnpr	T	A	4: 136,329,444	S252T	probably damaging	Het
Itgb4	A	T	11: 115,979,111	T40S	probably benign	Het
Krtap27-1	T	C	16: 88,671,414	N81D	probably benign	Het
Lilrb4a	T	A	10: 51,491,587	L75Q	probably benign	Het
Lrp2	T	A	2: 69,460,477	E3546D	probably damaging	Het
Lrp2	T	A	2: 69,483,394	D2331V	probably damaging	Het
Lzts2	T	A	19: 45,021,454	V9E	probably damaging	Het
Matr3	T	A	18: 35,584,656	D302E	probably benign	Het
Mcoln2	A	G	3: 146,192,224		probably null	Het
Metap2	T	C	10: 93,868,949	D272G	probably damaging	Het
Mitf	A	G	6: 98,010,467	D337G	probably damaging	Het
Mkl2	T	C	16: 13,401,569	V693A	possibly damaging	Het
Msh2	A	G	17: 87,678,343	E116G	probably benign	Het
Nlrp10	T	A	7: 108,924,348	M642L	probably benign	Het
Noxa1	G	T	2: 25,092,546	Q86K	probably benign	Het
Nrap	T	C	19: 56,384,130	T48A	probably benign	Het
Nup160	T	A	2: 90,690,150	H308Q	probably damaging	Het
Osbpl11	T	C	16: 33,236,329	L711P	probably damaging	Het
Osbpl6	A	G	2: 76,555,065	N281S	probably benign	Het
Pcnp	C	T	16: 56,024,340	E66K	possibly damaging	Het
Pik3cg	A	G	12: 32,204,984	Y335H	probably damaging	Het
Plekhg4	T	C	8: 105,381,799	L1053S	probably damaging	Het
Plekhh2	G	T	17: 84,610,775	E1271*	probably null	Het
Ppp2r2b	T	A	18: 42,737,990	Y82F	probably damaging	Het
Prkd3	T	C	17: 78,971,367	D430G	probably damaging	Het
Prl7d1	C	T	13: 27,709,257	D224N	possibly damaging	Het
Ptpdc1	A	T	13: 48,586,697	N419K	possibly damaging	Het
Serinc5	T	A	13: 92,661,187		probably null	Het
Sipa1	A	G	19: 5,651,664	L981P	probably damaging	Het
Slc16a7	A	T	10: 125,230,620	C383*	probably null	Het
Slc19a1	C	G	10: 77,042,535	Y301*	probably null	Het
Slc22a14	A	T	9: 119,223,761	V14E	possibly damaging	Het
Slpi	C	A	2: 164,354,917	C95F	probably damaging	Het
Smurf2	G	A	11: 106,852,507	H225Y	possibly damaging	Het
Son	T	C	16: 91,655,342	S326P	possibly damaging	Het
Sptb	T	A	12: 76,611,883	K1262M	probably benign	Het
Sugp2	T	A	8: 70,244,064		probably benign	Het
Tatdn2	T	A	6: 113,710,070	H747Q	probably damaging	Het
Tcn2	C	A	11: 3,927,516	R44L	probably benign	Het
Tenm3	G	A	8: 48,235,971	R2194C	probably damaging	Het
Tnks2	T	A	19: 36,845,531		probably benign	Het
Top3a	A	T	11: 60,759,362	I120N	probably damaging	Het
Umodl1	T	A	17: 30,982,258		probably benign	Het
Umodl1	T	C	17: 30,986,504	V662A	probably benign	Het
Ush2a	T	C	1: 188,862,851	S3827P	probably benign	Het
Vasn	T	A	16: 4,648,609		probably null	Het
Vmn2r69	A	T	7: 85,406,700	C743*	probably null	Het
Vmn2r79	C	A	7: 87,037,794	H794Q	probably benign	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
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
R5913:Cep95	UTSW	11	106818509	unclassified	probably benign
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'- TCGAAGCGTGTCAGGTTAAGGC -3'
(R):5'- TGATTTGTTGGCTCCCTTCCAAGAC -3'

Sequencing Primer
(F):5'- GGGATAGTCACACAATTCTGAGTC -3'
(R):5'- GTCCATTATTACCTGAGCCTGG -3'

Posted On

2014-03-14