Mutagenetix > Incidental Mutation

Incidental Mutation 'R8409:Cep83'

652590

Institutional Source

Beutler Lab

Gene Symbol

Cep83

Ensembl Gene

ENSMUSG00000020024

Gene Name

centrosomal protein 83

Synonyms

Ccdc41, 5730513H21Rik, 4921537D05Rik, 2600001G24Rik

MMRRC Submission

067766-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8409 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94524476-94626201 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 94573839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 243 (Q243*)

Ref Sequence

ENSEMBL: ENSMUSP00000020212 (fasta)

Gene Model

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

AlphaFold

Q9D5R3

Predicted Effect

probably null
Transcript: ENSMUST00000020212
AA Change: Q243*

SMART Domains

Protein: ENSMUSP00000020212
Gene: ENSMUSG00000020024
AA Change: Q243*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	G	5: 121,639,540 (GRCm39)	N502H	probably benign	Het
Ahnak	C	T	19: 8,993,037 (GRCm39)	P4774S	probably benign	Het
Bptf	A	T	11: 106,953,495 (GRCm39)	S2082R	probably damaging	Het
Ccdc88a	A	G	11: 29,453,544 (GRCm39)	T1636A	probably benign	Het
Dlg5	T	G	14: 24,226,546 (GRCm39)	E452A	probably damaging	Het
Dsg1a	T	A	18: 20,473,208 (GRCm39)	D760E	probably damaging	Het
Elob	G	A	17: 24,043,933 (GRCm39)	R89C	probably benign	Het
En2	T	C	5: 28,371,882 (GRCm39)	S120P	probably benign	Het
Ercc4	G	C	16: 12,948,001 (GRCm39)	R406P	probably benign	Het
Extl2	G	T	3: 115,820,911 (GRCm39)	V253F	probably damaging	Het
Fam217a	T	C	13: 35,100,881 (GRCm39)	E92G	probably benign	Het
Fbxo25	A	T	8: 13,964,999 (GRCm39)	K17*	probably null	Het
Fig4	A	T	10: 41,141,427 (GRCm39)	S277R	probably benign	Het
Gphn	T	C	12: 78,659,784 (GRCm39)	S429P	probably damaging	Het
Grm7	A	G	6: 110,891,297 (GRCm39)	I177V	probably benign	Het
H13	C	T	2: 152,531,813 (GRCm39)	P239L	possibly damaging	Het
Il12rb1	T	A	8: 71,269,187 (GRCm39)	S456T	possibly damaging	Het
Irgq	A	G	7: 24,233,209 (GRCm39)	D350G	probably benign	Het
Isl2	T	C	9: 55,449,784 (GRCm39)	S118P	possibly damaging	Het
Itpka	C	T	2: 119,580,341 (GRCm39)	R329C	probably damaging	Het
Itpripl1	G	T	2: 126,982,686 (GRCm39)	Q479K	probably benign	Het
Kbtbd2	T	C	6: 56,757,341 (GRCm39)	N132D	probably damaging	Het
Klb	T	C	5: 65,536,878 (GRCm39)	V736A	probably damaging	Het
Klhl3	T	C	13: 58,167,242 (GRCm39)	D374G	probably damaging	Het
Mmp14	T	A	14: 54,678,125 (GRCm39)	V582D	probably damaging	Het
Naalad2	A	G	9: 18,242,134 (GRCm39)	V590A	probably damaging	Het
Or2n1d	A	G	17: 38,646,197 (GRCm39)	T50A	probably benign	Het
Or51f1	A	T	7: 102,506,477 (GRCm39)	M4K	probably benign	Het
Or7h8	T	G	9: 20,123,542 (GRCm39)		probably benign	Het
Pianp	T	C	6: 124,976,214 (GRCm39)	S8P	unknown	Het
Ppbp	T	C	5: 90,916,486 (GRCm39)	S9P	probably damaging	Het
Ppp4r3a	A	G	12: 101,008,752 (GRCm39)	I696T	probably benign	Het
Psmd5	A	G	2: 34,760,856 (GRCm39)	S27P	probably damaging	Het
Ralgapa2	T	A	2: 146,086,897 (GRCm39)	R1561S		Het
Rassf8	A	G	6: 145,761,429 (GRCm39)	T252A	probably benign	Het
Rpe65	T	A	3: 159,319,785 (GRCm39)	D218E	probably benign	Het
Sec23ip	G	A	7: 128,365,855 (GRCm39)	V575I	probably damaging	Het
Slc38a3	G	A	9: 107,536,454 (GRCm39)		probably benign	Het
Slco6c1	C	T	1: 97,003,663 (GRCm39)	C495Y	probably damaging	Het
Speer4f2	C	A	5: 17,582,419 (GRCm39)	T214K		Het
Stox1	A	G	10: 62,501,795 (GRCm39)	L255P	probably benign	Het
Sympk	A	G	7: 18,786,363 (GRCm39)	M989V	probably benign	Het
Tia1	T	A	6: 86,402,452 (GRCm39)	Y202N	possibly damaging	Het
Tmem51	TCCCC	TCCC	4: 141,764,996 (GRCm39)		probably null	Het
Usp34	T	C	11: 23,407,811 (GRCm39)	S2593P		Het
Vmn2r85	A	G	10: 130,261,257 (GRCm39)	V360A	probably benign	Het

Other mutations in Cep83

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Cep83	APN	10	94,625,626 (GRCm39)	missense	possibly damaging	0.77
IGL00912:Cep83	APN	10	94,573,728 (GRCm39)	nonsense	probably null
IGL01141:Cep83	APN	10	94,624,619 (GRCm39)	missense	probably benign	0.39
R0358:Cep83	UTSW	10	94,555,593 (GRCm39)	missense	probably benign
R0530:Cep83	UTSW	10	94,555,450 (GRCm39)	splice site	probably benign
R0579:Cep83	UTSW	10	94,584,915 (GRCm39)	missense	possibly damaging	0.58
R1140:Cep83	UTSW	10	94,573,752 (GRCm39)	missense	probably damaging	1.00
R1573:Cep83	UTSW	10	94,624,525 (GRCm39)	missense	probably damaging	1.00
R1756:Cep83	UTSW	10	94,586,129 (GRCm39)	missense	probably damaging	1.00
R3121:Cep83	UTSW	10	94,622,700 (GRCm39)	missense	probably damaging	1.00
R3684:Cep83	UTSW	10	94,622,687 (GRCm39)	missense	probably benign	0.01
R5115:Cep83	UTSW	10	94,604,751 (GRCm39)	missense	probably benign
R5325:Cep83	UTSW	10	94,573,768 (GRCm39)	missense	probably damaging	0.98
R5439:Cep83	UTSW	10	94,625,600 (GRCm39)	missense	probably benign	0.03
R5782:Cep83	UTSW	10	94,584,894 (GRCm39)	missense	probably damaging	1.00
R5891:Cep83	UTSW	10	94,561,537 (GRCm39)	missense	probably benign	0.12
R7229:Cep83	UTSW	10	94,555,527 (GRCm39)	missense	probably damaging	1.00
R7632:Cep83	UTSW	10	94,586,502 (GRCm39)	missense	probably damaging	1.00
R7953:Cep83	UTSW	10	94,573,804 (GRCm39)	missense	probably damaging	0.99
R8043:Cep83	UTSW	10	94,573,804 (GRCm39)	missense	probably damaging	0.99
R8167:Cep83	UTSW	10	94,564,579 (GRCm39)	missense	possibly damaging	0.56
R8171:Cep83	UTSW	10	94,604,797 (GRCm39)	missense	possibly damaging	0.83
R9079:Cep83	UTSW	10	94,564,541 (GRCm39)	missense	possibly damaging	0.62
R9195:Cep83	UTSW	10	94,604,801 (GRCm39)	missense	possibly damaging	0.90
R9522:Cep83	UTSW	10	94,586,184 (GRCm39)	missense	probably damaging	1.00
R9604:Cep83	UTSW	10	94,554,939 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- ACATAACCAGCTGCTTAGTGTTG -3'
(R):5'- ATGTAGAGCACAGCCACTGC -3'

Sequencing Primer
(F):5'- CTTAGTGTTGATCCCACGAGAGAC -3'
(R):5'- ATGTACACTTGGGAGTCCGC -3'

Posted On

2020-10-20