Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02956:Cep15'

365115

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep15

Ensembl Gene

ENSMUSG00000033111

Gene Name

centrosomal protein 15

Synonyms

3830406C13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02956

Quality Score

Status

Chromosome

Chromosomal Location

10166532-10185590 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12287326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 29 (N29S)

Ref Sequence

ENSEMBL: ENSMUSP00000153330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112669] [ENSMUST00000163392] [ENSMUST00000223631] [ENSMUST00000223702] [ENSMUST00000223762] [ENSMUST00000223927] [ENSMUST00000224389] [ENSMUST00000225294] [ENSMUST00000225640] [ENSMUST00000225773] [ENSMUST00000225871]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000112669
AA Change: N37S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000108288
Gene: ENSMUSG00000033111
AA Change: N37S

Domain	Start	End	E-Value	Type
Pfam:DUF4570	1	89	5.5e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163392
AA Change: N37S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126960
Gene: ENSMUSG00000033111
AA Change: N37S

Domain	Start	End	E-Value	Type
Pfam:DUF4570	1	110	1.1e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223631
AA Change: N37S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223697

Predicted Effect

probably benign
Transcript: ENSMUST00000223702
AA Change: N29S

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000223762
AA Change: N37S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000223927
AA Change: N37S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000224389
AA Change: N37S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000225294
AA Change: N37S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000225640
AA Change: N37S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224824

Predicted Effect

probably benign
Transcript: ENSMUST00000225773
AA Change: N37S

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225971

Predicted Effect

probably benign
Transcript: ENSMUST00000225871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225739

Predicted Effect

probably benign
Transcript: ENSMUST00000225847

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	C	T	2: 26,873,049 (GRCm39)	A339V	probably benign	Het
Adck2	T	C	6: 39,553,436 (GRCm39)	V349A	probably benign	Het
Akna	G	T	4: 63,304,516 (GRCm39)	T546K	probably benign	Het
Albfm1	A	G	5: 90,727,497 (GRCm39)	I372V	possibly damaging	Het
Ankrd29	T	C	18: 12,393,993 (GRCm39)	K274E	probably damaging	Het
Apc2	A	T	10: 80,142,209 (GRCm39)	N376I	probably damaging	Het
Cadps	A	G	14: 12,418,047 (GRCm38)		probably benign	Het
Cbl	T	C	9: 44,080,331 (GRCm39)	T243A	probably damaging	Het
Cfap52	T	C	11: 67,844,901 (GRCm39)	E56G	probably benign	Het
Chd5	C	A	4: 152,464,413 (GRCm39)	P1561Q	probably benign	Het
Dscam	A	G	16: 96,602,472 (GRCm39)	S657P	probably damaging	Het
Ece1	T	C	4: 137,690,149 (GRCm39)	F732L	probably damaging	Het
Eno2	T	C	6: 124,740,082 (GRCm39)	D199G	probably damaging	Het
Enpp3	A	G	10: 24,650,841 (GRCm39)		probably benign	Het
Fbxl15	G	T	19: 46,317,690 (GRCm39)	C124F	probably damaging	Het
Fermt3	T	C	19: 6,979,712 (GRCm39)	S474G	probably benign	Het
Fkbp6	T	C	5: 135,368,350 (GRCm39)	E252G	probably damaging	Het
Gm6625	A	T	8: 89,873,667 (GRCm39)		noncoding transcript	Het
Gnl1	T	C	17: 36,298,504 (GRCm39)	I416T	probably benign	Het
Gp1bb	C	A	16: 18,439,675 (GRCm39)	A140S	probably benign	Het
Grin2c	A	G	11: 115,148,785 (GRCm39)	V271A	possibly damaging	Het
Heatr1	T	A	13: 12,430,940 (GRCm39)	S1012T	possibly damaging	Het
Ighv5-6	T	A	12: 113,589,523 (GRCm39)		probably benign	Het
Itga10	A	G	3: 96,562,429 (GRCm39)	E737G	possibly damaging	Het
Lmod2	A	C	6: 24,603,631 (GRCm39)	N202T	probably damaging	Het
Lrp1	C	T	10: 127,380,428 (GRCm39)	V3908I	probably benign	Het
Lrrtm4	T	C	6: 79,998,633 (GRCm39)	V15A	probably benign	Het
Mup4	A	T	4: 59,959,263 (GRCm39)	D77E	probably benign	Het
Myh7b	A	T	2: 155,474,823 (GRCm39)	E1787V	probably damaging	Het
Myh7b	T	A	2: 155,467,874 (GRCm39)	M804K	possibly damaging	Het
Nup133	T	C	8: 124,675,822 (GRCm39)	S32G	probably benign	Het
Or13c7d	T	A	4: 43,770,399 (GRCm39)	N204I	probably benign	Het
Or52h1	T	C	7: 103,829,334 (GRCm39)	I94V	probably damaging	Het
Or7d10	T	C	9: 19,832,348 (GRCm39)	V281A	possibly damaging	Het
Or8b8	A	G	9: 37,809,404 (GRCm39)	K235E	probably damaging	Het
Polr2m	T	C	9: 71,390,911 (GRCm39)	D97G	possibly damaging	Het
Pou2f3	A	G	9: 43,054,100 (GRCm39)		probably benign	Het
Rex1bd	C	A	8: 70,958,552 (GRCm39)	V72F	possibly damaging	Het
Rgp1	A	G	4: 43,581,505 (GRCm39)	T261A	possibly damaging	Het
Satb2	A	G	1: 56,987,334 (GRCm39)	F84L	probably damaging	Het
Sec14l1	G	A	11: 117,043,973 (GRCm39)	D494N	probably benign	Het
Spn	G	A	7: 126,736,432 (GRCm39)	T25M	probably damaging	Het
Trp73	G	A	4: 154,148,920 (GRCm39)		probably benign	Het
Tsc22d2	A	G	3: 58,324,967 (GRCm39)	T620A	unknown	Het
Zfp276	T	C	8: 123,981,483 (GRCm39)	L10P	probably damaging	Het
Zfp93	T	A	7: 23,974,400 (GRCm39)	N128K	probably benign	Het

Other mutations in Cep15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01693:Cep15	APN	14	12,287,380 (GRCm38)	missense	probably damaging	1.00
R0335:Cep15	UTSW	14	12,301,266 (GRCm38)	missense	possibly damaging	0.91
R0747:Cep15	UTSW	14	12,287,287 (GRCm38)	missense	probably benign	0.25
R8910:Cep15	UTSW	14	12,285,444 (GRCm38)	missense	probably benign	0.00

Posted On

2015-12-18