Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02422:Cep20'

292737

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 #

IGL02422

Quality Score

Status

Chromosome

Chromosomal Location

14117108-14135269 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 14118070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 150 (D150A)

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: D150A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023357
Gene: ENSMUSG00000022677
AA Change: D150A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120707

SMART Domains

Protein: ENSMUSP00000113348
Gene: ENSMUSG00000022677

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019M22Rik	T	C	12: 96,013,821 (GRCm39)		noncoding transcript	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Aak1	A	T	6: 86,959,598 (GRCm39)	T846S	unknown	Het
Adgrl1	A	G	8: 84,664,115 (GRCm39)	D1149G	probably damaging	Het
AI661453	C	T	17: 47,778,017 (GRCm39)		probably benign	Het
Ap4b1	T	C	3: 103,720,170 (GRCm39)	V139A	possibly damaging	Het
Arhgef16	G	A	4: 154,371,522 (GRCm39)	R224*	probably null	Het
Ash1l	T	A	3: 88,976,386 (GRCm39)		probably null	Het
Atm	A	T	9: 53,412,092 (GRCm39)	V988D	probably damaging	Het
C3	T	C	17: 57,533,823 (GRCm39)	E47G	probably damaging	Het
Cdkn2aip	G	A	8: 48,164,534 (GRCm39)	S393L	probably damaging	Het
Cyp2c68	A	C	19: 39,722,896 (GRCm39)	N217K	probably damaging	Het
Dapp1	A	T	3: 137,667,260 (GRCm39)	S101T	probably benign	Het
Ddx25	T	C	9: 35,462,660 (GRCm39)	I242V	probably null	Het
Dpy19l4	T	C	4: 11,265,803 (GRCm39)	N715S	possibly damaging	Het
Dync1h1	A	G	12: 110,606,644 (GRCm39)	E2511G	possibly damaging	Het
Gm9839	T	A	1: 32,558,943 (GRCm39)		probably benign	Het
Grn	A	G	11: 102,327,084 (GRCm39)		probably benign	Het
Haus5	T	C	7: 30,359,571 (GRCm39)	T196A	possibly damaging	Het
Ik	A	G	18: 36,886,313 (GRCm39)		probably null	Het
Inpp5d	T	G	1: 87,635,854 (GRCm39)	F473C	probably damaging	Het
Kif19a	C	A	11: 114,680,187 (GRCm39)	S841R	probably damaging	Het
Lipn	G	A	19: 34,046,063 (GRCm39)	C12Y	probably benign	Het
Ltbp4	G	T	7: 27,019,097 (GRCm39)	P1074Q	probably damaging	Het
Mfap2	T	C	4: 140,741,535 (GRCm39)	S65P	probably benign	Het
Mtbp	T	C	15: 55,426,439 (GRCm39)	F127S	possibly damaging	Het
Or8k37	A	G	2: 86,469,560 (GRCm39)	F164S	probably damaging	Het
Pappa2	T	C	1: 158,764,503 (GRCm39)	D336G	probably damaging	Het
Plekhh2	A	G	17: 84,871,237 (GRCm39)		probably benign	Het
Plekhm3	A	T	1: 64,961,025 (GRCm39)	C410*	probably null	Het
Ppm1f	T	A	16: 16,735,580 (GRCm39)	H265Q	probably damaging	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Rasal3	T	C	17: 32,617,947 (GRCm39)	T207A	probably benign	Het
Rnf17	T	A	14: 56,719,592 (GRCm39)	N947K	probably damaging	Het
Rpl3l	C	A	17: 24,952,962 (GRCm39)	Y307*	probably null	Het
Sema4d	A	G	13: 51,857,124 (GRCm39)	S703P	probably benign	Het
Slc12a7	T	C	13: 73,954,280 (GRCm39)	M857T	probably benign	Het
Slc34a3	T	C	2: 25,122,275 (GRCm39)	D110G	probably benign	Het
Spata32	A	T	11: 103,099,706 (GRCm39)	N266K	probably benign	Het
Spata9	A	G	13: 76,141,193 (GRCm39)	I147V	probably benign	Het
Supt16	T	C	14: 52,417,000 (GRCm39)	Y326C	possibly damaging	Het
Tpx2	T	C	2: 152,715,064 (GRCm39)	I95T	probably benign	Het
Usp17ld	T	A	7: 102,899,967 (GRCm39)	M322L	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het

Other mutations in Cep20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01532:Cep20	APN	16	14,122,375 (GRCm39)	missense	probably benign	0.00
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

2015-04-16