Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01532:Cep20'

89803

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep20

Ensembl Gene

ENSMUSG00000022677

Gene Name

centrosomal protein 20

Synonyms

0610037P05Rik, Fopnl

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL01532

Quality Score

Status

Chromosome

Chromosomal Location

14117108-14135269 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14122375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 130 (S130P)

Ref Sequence

ENSEMBL: ENSMUSP00000023357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023357] [ENSMUST00000120707]

AlphaFold

Q9CZS3

Predicted Effect

probably benign
Transcript: ENSMUST00000023357
AA Change: S130P

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

SMART Domains

Protein: ENSMUSP00000023357
Gene: ENSMUSG00000022677
AA Change: S130P

Domain	Start	End	E-Value	Type
LisH	49	81	3.13e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120707
AA Change: V122A

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

SMART Domains

Protein: ENSMUSP00000113348
Gene: ENSMUSG00000022677
AA Change: V122A

Domain	Start	End	E-Value	Type
LisH	49	81	3.13e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230495

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
Adamts17	C	A	7: 66,558,349 (GRCm39)	N264K	probably damaging	Het
Adgrl3	C	T	5: 81,842,416 (GRCm39)	T260I	probably damaging	Het
Ambra1	G	T	2: 91,715,977 (GRCm39)	K769N	probably damaging	Het
Arel1	A	G	12: 84,980,936 (GRCm39)	V357A	possibly damaging	Het
Atp11b	T	A	3: 35,903,651 (GRCm39)	C76*	probably null	Het
AW112010	C	A	19: 11,025,433 (GRCm39)		noncoding transcript	Het
Bfar	A	T	16: 13,505,251 (GRCm39)		probably benign	Het
Ccdc70	T	G	8: 22,463,299 (GRCm39)	L30V	probably damaging	Het
Chrm5	C	T	2: 112,309,577 (GRCm39)	R513Q	probably benign	Het
Crem	G	A	18: 3,276,732 (GRCm39)	T7I	probably benign	Het
Cyp4f39	C	T	17: 32,689,928 (GRCm39)		probably benign	Het
Dlg5	T	C	14: 24,208,660 (GRCm39)	T849A	probably benign	Het
Dock8	G	T	19: 25,146,805 (GRCm39)	G1428V	probably damaging	Het
Eomes	T	C	9: 118,311,317 (GRCm39)	I380T	probably damaging	Het
Fam13a	T	C	6: 58,917,280 (GRCm39)	D532G	probably damaging	Het
Gm10061	G	T	16: 88,948,190 (GRCm39)	*55L	probably null	Het
Gm27438	T	G	2: 87,083,269 (GRCm39)		probably benign	Het
Gpalpp1	T	C	14: 76,339,942 (GRCm39)	K124E	probably benign	Het
Hgs	T	A	11: 120,368,335 (GRCm39)		probably null	Het
Hpn	T	A	7: 30,802,938 (GRCm39)	M121L	possibly damaging	Het
Il1r1	T	C	1: 40,334,088 (GRCm39)		probably null	Het
Jag2	A	T	12: 112,877,983 (GRCm39)	C583S	probably damaging	Het
Katnal2	T	C	18: 77,099,696 (GRCm39)	H146R	probably benign	Het
Ldah	T	C	12: 8,270,596 (GRCm39)		probably benign	Het
Lvrn	T	A	18: 47,033,551 (GRCm39)	Y921N	probably damaging	Het
Muc5b	A	G	7: 141,423,743 (GRCm39)	Y4572C	possibly damaging	Het
Myo16	A	G	8: 10,450,551 (GRCm39)	S518G	probably benign	Het
Ncf1	T	C	5: 134,255,447 (GRCm39)	N148S	probably benign	Het
Nes	T	G	3: 87,885,654 (GRCm39)	D1260E	possibly damaging	Het
Nup210	C	A	6: 91,062,981 (GRCm39)		probably benign	Het
Or52b4i	T	C	7: 102,191,863 (GRCm39)	L240P	probably damaging	Het
Rnf31	C	A	14: 55,840,080 (GRCm39)	Q968K	probably damaging	Het
Ros1	A	G	10: 51,967,034 (GRCm39)		probably benign	Het
Ryk	T	C	9: 102,774,465 (GRCm39)	Y400H	probably benign	Het
Slc4a5	T	A	6: 83,250,022 (GRCm39)		probably null	Het
Sptssb	A	G	3: 69,728,202 (GRCm39)		probably benign	Het
Sstr5	T	C	17: 25,710,305 (GRCm39)	D308G	probably damaging	Het
Taf2	A	G	15: 54,912,882 (GRCm39)	W493R	possibly damaging	Het
Vmn2r28	T	A	7: 5,489,463 (GRCm39)	I459L	probably benign	Het
Vti1b	A	C	12: 79,211,912 (GRCm39)	L1W	probably null	Het
Wdr1	T	C	5: 38,692,530 (GRCm39)	Y125C	probably damaging	Het

Other mutations in Cep20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02422:Cep20	APN	16	14,118,070 (GRCm39)	missense	probably benign	0.06
IGL02953:Cep20	APN	16	14,122,339 (GRCm39)	missense	probably benign	0.09
R1459:Cep20	UTSW	16	14,122,380 (GRCm39)	missense	possibly damaging	0.74
R1486:Cep20	UTSW	16	14,118,004 (GRCm39)	missense	probably benign	0.17
R6399:Cep20	UTSW	16	14,118,009 (GRCm39)	frame shift	probably null
R6609:Cep20	UTSW	16	14,118,009 (GRCm39)	frame shift	probably null
R6610:Cep20	UTSW	16	14,118,009 (GRCm39)	frame shift	probably null
R6612:Cep20	UTSW	16	14,118,009 (GRCm39)	frame shift	probably null
R7382:Cep20	UTSW	16	14,118,009 (GRCm39)	frame shift	probably null
R7383:Cep20	UTSW	16	14,118,009 (GRCm39)	frame shift	probably null
R7487:Cep20	UTSW	16	14,128,968 (GRCm39)	missense	probably benign	0.08
R8204:Cep20	UTSW	16	14,118,070 (GRCm39)	missense	probably benign
R9148:Cep20	UTSW	16	14,135,222 (GRCm39)	unclassified	probably benign

Posted On

2013-12-03