Mutagenetix > Incidental Mutation

Incidental Mutation 'R5325:Cep83'

421902

Institutional Source

Beutler Lab

Gene Symbol

Cep83

Ensembl Gene

ENSMUSG00000020024

Gene Name

centrosomal protein 83

Synonyms

Ccdc41, 5730513H21Rik, 4921537D05Rik, 2600001G24Rik

MMRRC Submission

042908-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5325 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94524476-94626201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94573768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 219 (E219G)

Ref Sequence

ENSEMBL: ENSMUSP00000020212 (fasta)

Gene Model

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

AlphaFold

Q9D5R3

Predicted Effect

probably damaging
Transcript: ENSMUST00000020212
AA Change: E219G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020212
Gene: ENSMUSG00000020024
AA Change: E219G

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

Meta Mutation Damage Score

0.2030

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (55/56)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	A	11: 105,896,079 (GRCm39)	M675K	probably benign	Het
Ccdc186	A	T	19: 56,801,613 (GRCm39)	I168N	probably damaging	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Ctsj	T	C	13: 61,151,839 (GRCm39)	T73A	possibly damaging	Het
Ddr2	T	A	1: 169,829,406 (GRCm39)	T283S	probably benign	Het
Ehbp1	T	A	11: 22,045,370 (GRCm39)	D768V	possibly damaging	Het
Evpl	T	C	11: 116,112,191 (GRCm39)	D1833G	probably damaging	Het
Exoc1	A	G	5: 76,685,549 (GRCm39)	N87S	probably benign	Het
Fam98b	A	C	2: 117,101,132 (GRCm39)	I315L	possibly damaging	Het
Fancg	A	G	4: 43,006,564 (GRCm39)	V330A	probably damaging	Het
Fbxo30	G	A	10: 11,166,846 (GRCm39)	V523I	possibly damaging	Het
Fbxw27	A	G	9: 109,599,161 (GRCm39)	C419R	probably damaging	Het
Flt3	C	A	5: 147,312,459 (GRCm39)	V161L	probably benign	Het
Fndc7	G	A	3: 108,790,765 (GRCm39)	T87I	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm6457	A	T	18: 14,703,498 (GRCm39)		noncoding transcript	Het
Gpr63	T	C	4: 25,007,294 (GRCm39)	V6A	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
H2-M10.2	C	A	17: 36,596,471 (GRCm39)	V125L	probably benign	Het
Hrh4	C	T	18: 13,155,054 (GRCm39)	Q198*	probably null	Het
Lrch4	A	G	5: 137,636,168 (GRCm39)	E373G	probably damaging	Het
Mroh9	C	G	1: 162,888,329 (GRCm39)	G249R	probably damaging	Het
Noa1	A	C	5: 77,452,042 (GRCm39)	D547E	probably damaging	Het
Nr2e1	G	A	10: 42,448,780 (GRCm39)	R153W	probably damaging	Het
Nudt9	A	C	5: 104,198,487 (GRCm39)	M1L	possibly damaging	Het
Odf2	T	A	2: 29,802,583 (GRCm39)	D282E	probably benign	Het
Olfr908	A	T	9: 38,427,454 (GRCm39)	N42I	probably damaging	Het
Or13a25	C	A	7: 140,247,705 (GRCm39)	H168Q	probably benign	Het
Or6ae1	T	A	7: 139,742,026 (GRCm39)	Y279F	probably damaging	Het
Osbpl5	C	G	7: 143,245,665 (GRCm39)	A816P	probably damaging	Het
Pan2	T	C	10: 128,153,503 (GRCm39)	I924T	possibly damaging	Het
Ppat	A	G	5: 77,076,269 (GRCm39)		probably benign	Het
Rad50	T	G	11: 53,583,690 (GRCm39)	I364L	probably benign	Het
Rnf7l	A	G	10: 63,257,458 (GRCm39)	S21P	probably benign	Het
Robo2	A	G	16: 73,770,673 (GRCm39)	I484T	possibly damaging	Het
Ryr2	A	T	13: 11,705,249 (GRCm39)	M2839K	probably damaging	Het
Sin3b	A	G	8: 73,477,154 (GRCm39)	D807G	probably damaging	Het
Sirpb1a	G	A	3: 15,476,503 (GRCm39)	T98I	possibly damaging	Het
Smim17	G	A	7: 6,432,321 (GRCm39)	V88M	probably damaging	Het
Spib	T	C	7: 44,177,505 (GRCm39)	T229A	probably damaging	Het
St14	A	T	9: 31,008,274 (GRCm39)		probably null	Het
Syne4	A	T	7: 30,018,401 (GRCm39)	Y381F	probably damaging	Het
Sytl1	T	C	4: 132,988,382 (GRCm39)		probably benign	Het
Tnpo3	A	C	6: 29,602,012 (GRCm39)		probably benign	Het
Trim12a	T	A	7: 103,953,413 (GRCm39)	I233F	probably damaging	Het
Tspan1	T	A	4: 116,021,536 (GRCm39)	N82Y	probably damaging	Het
Vmn1r60	T	A	7: 5,547,201 (GRCm39)	M300L	probably benign	Het
Wdr17	G	A	8: 55,112,716 (GRCm39)	A788V	possibly damaging	Het
Wwtr1	A	T	3: 57,482,658 (GRCm39)	V63E	probably benign	Het
Ylpm1	A	G	12: 85,060,735 (GRCm39)		probably benign	Het
Zfp956	T	C	6: 47,928,012 (GRCm39)		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
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
R8409:Cep83	UTSW	10	94,573,839 (GRCm39)	nonsense	probably null
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'- CCACACCTGAGCTTTCATGTTG -3'
(R):5'- GGCTTGTCAAGAGCACTTTTAAAAC -3'

Sequencing Primer
(F):5'- GACTTGTAAAGCATGTTCATGACTG -3'
(R):5'- AACTTATGCCATACTCCACTGGGATG -3'

Posted On

2016-08-04