Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00988:Cep95'

28676

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep95

Ensembl Gene

ENSMUSG00000018372

Gene Name

centrosomal protein 95

Synonyms

4732496G21Rik, Ccdc45, F630025I20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

IGL00988

Quality Score

Status

Chromosome

Chromosomal Location

106679466-106709687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106697220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 248 (T248A)

Ref Sequence

ENSEMBL: ENSMUSP00000099357 (fasta)

Gene Model

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

AlphaFold

Q8BVV7

Predicted Effect

probably benign
Transcript: ENSMUST00000018516
AA Change: T291A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
AA Change: T291A

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: T248A

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

SMART Domains

Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
AA Change: T248A

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,215,937 (GRCm39)		probably null	Het
Acin1	G	A	14: 54,884,257 (GRCm39)	T67I	probably damaging	Het
Agmo	T	C	12: 37,407,716 (GRCm39)	I200T	probably damaging	Het
Cmya5	C	T	13: 93,234,441 (GRCm39)	V216M	possibly damaging	Het
Gas6	T	G	8: 13,526,171 (GRCm39)	T256P	probably damaging	Het
Gbf1	T	C	19: 46,272,559 (GRCm39)		probably null	Het
Klhl10	G	A	11: 100,347,110 (GRCm39)	V435I	possibly damaging	Het
Lama2	T	A	10: 27,245,011 (GRCm39)	K257*	probably null	Het
Lrriq1	A	T	10: 102,997,757 (GRCm39)	V1286E	probably damaging	Het
Mtbp	T	A	15: 55,421,894 (GRCm39)		probably benign	Het
Nedd1	A	G	10: 92,525,548 (GRCm39)	V587A	possibly damaging	Het
Srbd1	T	C	17: 86,437,698 (GRCm39)	E215G	probably damaging	Het
Stxbp4	A	G	11: 90,426,338 (GRCm39)	V490A	probably benign	Het
Vmn2r124	A	G	17: 18,282,932 (GRCm39)	M209V	probably benign	Het

Other mutations in Cep95

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Cep95	APN	11	106,709,043 (GRCm39)	missense	probably damaging	0.98
IGL01306:Cep95	APN	11	106,704,641 (GRCm39)	missense	probably benign	0.00
IGL01995:Cep95	APN	11	106,697,197 (GRCm39)	missense	probably damaging	1.00
IGL02541:Cep95	APN	11	106,706,407 (GRCm39)	missense	probably damaging	0.99
ANU23:Cep95	UTSW	11	106,704,641 (GRCm39)	missense	probably benign	0.00
R0071:Cep95	UTSW	11	106,681,554 (GRCm39)	unclassified	probably benign
R0071:Cep95	UTSW	11	106,681,554 (GRCm39)	unclassified	probably benign
R0255:Cep95	UTSW	11	106,702,097 (GRCm39)	missense	probably benign	0.10
R0427:Cep95	UTSW	11	106,681,578 (GRCm39)	missense	probably benign	0.18
R0436:Cep95	UTSW	11	106,709,511 (GRCm39)	missense	probably null	0.98
R0583:Cep95	UTSW	11	106,705,449 (GRCm39)	missense	probably benign
R0831:Cep95	UTSW	11	106,705,530 (GRCm39)	missense	probably benign	0.00
R1459:Cep95	UTSW	11	106,708,781 (GRCm39)	missense	probably damaging	1.00
R1589:Cep95	UTSW	11	106,690,930 (GRCm39)	missense	probably benign	0.00
R1627:Cep95	UTSW	11	106,700,531 (GRCm39)	missense	probably damaging	1.00
R1768:Cep95	UTSW	11	106,697,177 (GRCm39)	nonsense	probably null
R1914:Cep95	UTSW	11	106,705,464 (GRCm39)	missense	probably damaging	1.00
R1915:Cep95	UTSW	11	106,705,464 (GRCm39)	missense	probably damaging	1.00
R1928:Cep95	UTSW	11	106,681,554 (GRCm39)	unclassified	probably benign
R2495:Cep95	UTSW	11	106,700,108 (GRCm39)	missense	possibly damaging	0.73
R3157:Cep95	UTSW	11	106,700,013 (GRCm39)	splice site	probably benign
R3158:Cep95	UTSW	11	106,700,013 (GRCm39)	splice site	probably benign
R3712:Cep95	UTSW	11	106,702,112 (GRCm39)	nonsense	probably null
R3881:Cep95	UTSW	11	106,697,118 (GRCm39)	missense	probably damaging	0.98
R4739:Cep95	UTSW	11	106,706,560 (GRCm39)	missense	probably benign	0.34
R4908:Cep95	UTSW	11	106,702,172 (GRCm39)	missense	probably damaging	1.00
R4989:Cep95	UTSW	11	106,707,480 (GRCm39)	splice site	probably null
R5913:Cep95	UTSW	11	106,709,335 (GRCm39)	unclassified	probably benign
R5925:Cep95	UTSW	11	106,703,227 (GRCm39)	missense	probably benign	0.00
R6291:Cep95	UTSW	11	106,706,422 (GRCm39)	missense	probably damaging	1.00
R6540:Cep95	UTSW	11	106,692,328 (GRCm39)	missense	probably damaging	0.97
R6924:Cep95	UTSW	11	106,702,023 (GRCm39)	missense	probably damaging	0.99
R6985:Cep95	UTSW	11	106,709,529 (GRCm39)	missense	probably damaging	0.99
R7156:Cep95	UTSW	11	106,700,050 (GRCm39)	missense	possibly damaging	0.84
R7940:Cep95	UTSW	11	106,686,974 (GRCm39)	missense	probably benign
R8348:Cep95	UTSW	11	106,704,593 (GRCm39)	missense	possibly damaging	0.81
R8509:Cep95	UTSW	11	106,695,876 (GRCm39)	missense	probably benign	0.08
R8849:Cep95	UTSW	11	106,707,630 (GRCm39)	missense
R9284:Cep95	UTSW	11	106,704,624 (GRCm39)	missense	probably benign
R9532:Cep95	UTSW	11	106,687,042 (GRCm39)	missense	probably damaging	0.98
R9673:Cep95	UTSW	11	106,703,322 (GRCm39)	missense	probably benign	0.05
X0028:Cep95	UTSW	11	106,703,236 (GRCm39)	nonsense	probably null

Posted On

2013-04-17