Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00912:Cep83'

28317

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep83

Ensembl Gene

ENSMUSG00000020024

Gene Name

centrosomal protein 83

Synonyms

4921537D05Rik, Ccdc41, 5730513H21Rik, 2600001G24Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00912

Quality Score

Status

Chromosome

Chromosomal Location

94688654-94790853 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 94737866 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 206 (R206*)

Ref Sequence

ENSEMBL: ENSMUSP00000020212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020212]

Predicted Effect

probably null
Transcript: ENSMUST00000020212
AA Change: R206*

SMART Domains

Protein: ENSMUSP00000020212
Gene: ENSMUSG00000020024
AA Change: R206*

Domain	Start	End	E-Value	Type
coiled coil region	31	100	N/A	INTRINSIC
coiled coil region	121	602	N/A	INTRINSIC
coiled coil region	656	689	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220052

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,552,307	M957I	probably benign	Het
H3f3b	A	T	11: 116,023,444	I125N	probably damaging	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Jag1	G	A	2: 137,115,573	T73M	probably damaging	Het
Mrps35	T	A	6: 147,055,921	I148N	possibly damaging	Het
Nostrin	G	A	2: 69,182,819		probably benign	Het
Rer1	A	G	4: 155,082,665		probably null	Het
Scaper	A	G	9: 55,685,955	L466S	probably damaging	Het
Tmem87a	T	C	2: 120,403,936	D42G	possibly damaging	Het
Ttn	G	T	2: 76,738,832	T27239K	probably damaging	Het
Ugt3a1	G	A	15: 9,310,612	V327M	probably damaging	Het
Vmn2r100	A	G	17: 19,531,392	T566A	possibly damaging	Het

Other mutations in Cep83

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Cep83	APN	10	94789764	missense	possibly damaging	0.77
IGL01141:Cep83	APN	10	94788757	missense	probably benign	0.39
R0358:Cep83	UTSW	10	94719731	missense	probably benign
R0530:Cep83	UTSW	10	94719588	splice site	probably benign
R0579:Cep83	UTSW	10	94749053	missense	possibly damaging	0.58
R1140:Cep83	UTSW	10	94737890	missense	probably damaging	1.00
R1573:Cep83	UTSW	10	94788663	missense	probably damaging	1.00
R1756:Cep83	UTSW	10	94750267	missense	probably damaging	1.00
R3121:Cep83	UTSW	10	94786838	missense	probably damaging	1.00
R3684:Cep83	UTSW	10	94786825	missense	probably benign	0.01
R5115:Cep83	UTSW	10	94768889	missense	probably benign
R5325:Cep83	UTSW	10	94737906	missense	probably damaging	0.98
R5439:Cep83	UTSW	10	94789738	missense	probably benign	0.03
R5782:Cep83	UTSW	10	94749032	missense	probably damaging	1.00
R5891:Cep83	UTSW	10	94725675	missense	probably benign	0.12
R7229:Cep83	UTSW	10	94719665	missense	probably damaging	1.00
R7632:Cep83	UTSW	10	94750640	missense	probably damaging	1.00
R8043:Cep83	UTSW	10	94737942	missense	probably damaging	0.99

Posted On

2013-04-17