Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01995:Cep95'

183647

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 #

IGL01995

Quality Score

Status

Chromosome

Chromosomal Location

106789252-106819930 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106806371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 240 (L240P)

Ref Sequence

ENSEMBL: ENSMUSP00000099357 (fasta)

Gene Model

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

AlphaFold

Q8BVV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000018516
AA Change: L283P

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

SMART Domains

Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
AA Change: L283P

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 damaging
Transcript: ENSMUST00000103068
AA Change: L240P

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

SMART Domains

Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
AA Change: L240P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,163,845		probably benign	Het
AI661453	C	A	17: 47,468,517		probably benign	Het
Arhgap29	G	A	3: 122,014,328	V1052I	probably benign	Het
Arhgef17	A	G	7: 100,928,655	S1029P	probably benign	Het
Arpc5l	T	C	2: 39,008,214	S7P	probably damaging	Het
Asf1b	A	G	8: 83,955,904	I26V	probably benign	Het
Cnmd	A	G	14: 79,642,068		probably benign	Het
Cntn3	T	A	6: 102,203,885	N783I	probably damaging	Het
Col6a2	C	A	10: 76,604,842		probably benign	Het
Col9a2	T	C	4: 121,050,410		probably null	Het
Cry2	T	C	2: 92,424,632	E126G	probably benign	Het
Cxcl15	T	C	5: 90,794,608	V13A	possibly damaging	Het
Dbr1	A	G	9: 99,583,899	D510G	probably benign	Het
Dct	A	G	14: 118,034,243	F392L	probably damaging	Het
Dgkz	A	G	2: 91,934,050		probably benign	Het
Dhrs7b	A	G	11: 60,830,715	I2V	probably benign	Het
Efnb3	A	T	11: 69,556,904		probably null	Het
Fbf1	T	A	11: 116,151,020	R565S	probably null	Het
Gimap5	T	C	6: 48,752,793	I99T	probably damaging	Het
Gm9912	A	G	3: 149,185,449	L16P	unknown	Het
Gpr17	A	G	18: 31,947,134	L292P	probably damaging	Het
Hdac10	C	T	15: 89,127,598	V129M	probably damaging	Het
Mfap3l	A	G	8: 60,671,464	I247V	possibly damaging	Het
Mtus1	A	T	8: 41,084,420	S86R	probably damaging	Het
Mylk3	A	G	8: 85,359,261	S55P	possibly damaging	Het
Nol6	A	T	4: 41,118,567	C745S	probably damaging	Het
Nudt13	A	T	14: 20,306,317	E103D	probably damaging	Het
Olfr1129	A	G	2: 87,575,462	Y126C	probably damaging	Het
Olfr395	A	G	11: 73,907,435	I19T	possibly damaging	Het
Pdzk1	G	T	3: 96,857,371	A324S	probably benign	Het
Pofut2	T	C	10: 77,260,681	V80A	possibly damaging	Het
Rasip1	A	G	7: 45,636,816	D821G	probably damaging	Het
Rnf10	T	A	5: 115,251,102	K273*	probably null	Het
Slc4a9	A	G	18: 36,539,775	M811V	possibly damaging	Het
Smchd1	T	C	17: 71,444,020	D301G	probably damaging	Het
Tm9sf2	A	T	14: 122,143,471	T159S	probably benign	Het
Tom1l1	G	A	11: 90,649,861	P327S	probably damaging	Het
Trim3	A	G	7: 105,618,482		probably benign	Het
Trpm6	A	C	19: 18,830,327		probably benign	Het
Ttc13	A	C	8: 124,688,882	L245R	probably damaging	Het
Txnrd1	T	A	10: 82,877,284	V60E	probably damaging	Het
Ung	T	A	5: 114,136,386	D173E	probably benign	Het
Zbtb5	A	G	4: 44,995,294	V30A	probably 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
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

2014-05-07