Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01306:Cep95'

73448

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep95

Ensembl Gene

ENSMUSG00000018372

Gene Name

centrosomal protein 95

Synonyms

F630025I20Rik, Ccdc45, 4732496G21Rik

Accession Numbers

Is this an essential gene?

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

Stock #

IGL01306

Quality Score

Status

Chromosome

Chromosomal Location

106789252-106819930 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106813815 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 499 (V499I)

Ref Sequence

ENSEMBL: ENSMUSP00000018516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018516] [ENSMUST00000103068] [ENSMUST00000124898]

AlphaFold

Q8BVV7

Predicted Effect

probably benign
Transcript: ENSMUST00000018516
AA Change: V499I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
AA Change: V499I

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: ENSMUST00000103068
AA Change: V456I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
AA Change: V456I

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

noncoding transcript
Transcript: ENSMUST00000149279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151282

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,005,013		probably benign	Het
Abhd12b	G	A	12: 70,169,048	G88S	probably damaging	Het
Acot10	A	G	15: 20,665,965	F230S	probably benign	Het
Ago4	T	C	4: 126,515,884		probably null	Het
Akap12	G	T	10: 4,353,273	A28S	probably benign	Het
Anks1	C	A	17: 27,986,253	T262K	probably damaging	Het
Arfgap3	A	G	15: 83,313,509	Y349H	possibly damaging	Het
Camsap2	T	A	1: 136,297,790	E199D	probably benign	Het
Ccdc13	A	T	9: 121,827,363	M128K	probably benign	Het
Ccdc38	T	C	10: 93,569,935		probably null	Het
Cpne6	A	T	14: 55,515,249	I299F	probably damaging	Het
Cse1l	T	A	2: 166,927,508	Y278*	probably null	Het
Dip2c	A	G	13: 9,575,143	N558D	possibly damaging	Het
Edar	A	T	10: 58,628,638	C60S	probably damaging	Het
Fat2	T	C	11: 55,310,872	N459D	probably benign	Het
Fbxw8	C	T	5: 118,113,720	V243M	possibly damaging	Het
Fem1b	G	A	9: 62,797,528	A150V	possibly damaging	Het
Gal3st1	A	G	11: 3,998,405	Y204C	probably damaging	Het
Gm5422	A	T	10: 31,249,436		noncoding transcript	Het
Grin2c	T	C	11: 115,256,194	T392A	probably benign	Het
Itpk1	T	C	12: 102,606,103	E117G	probably damaging	Het
Kif12	G	T	4: 63,165,884	P627Q	probably damaging	Het
Krtap15	T	A	16: 88,829,367	F88L	probably benign	Het
Mlh1	T	C	9: 111,252,912	N248D	possibly damaging	Het
Olfr617	T	C	7: 103,584,693	Y224H	probably damaging	Het
Olfr727	A	G	14: 50,126,582	N2D	probably benign	Het
Olfr94	T	C	17: 37,196,942	N342S	probably benign	Het
Per2	T	C	1: 91,448,833	H106R	probably damaging	Het
Pfkl	T	A	10: 77,991,395	T486S	probably benign	Het
Prkdc	T	C	16: 15,667,731	V474A	possibly damaging	Het
Scamp4	C	A	10: 80,609,422	Q34K	probably damaging	Het
Serpinb3b	A	G	1: 107,154,665	Y290H	probably damaging	Het
Sft2d2	G	T	1: 165,183,995	A110E	probably benign	Het
Siglecf	T	A	7: 43,351,953	L115*	probably null	Het
Slc6a11	C	T	6: 114,134,665	T103M	probably damaging	Het
Slco1a1	T	A	6: 141,946,587	K18*	probably null	Het
Spata1	A	T	3: 146,487,399	Y112*	probably null	Het
Tbc1d32	G	A	10: 56,180,524	T440I	probably benign	Het
Vmn2r111	T	A	17: 22,568,984	E462V	probably damaging	Het
Wnt16	C	T	6: 22,297,935	R267C	probably damaging	Het
Xylt1	A	C	7: 117,548,890	S230R	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
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
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

Posted On

2013-10-07