Mutagenetix > Incidental Mutation

Incidental Mutation 'R3121:Cep83'

263234

Institutional Source

Beutler Lab

Gene Symbol

Cep83

Ensembl Gene

ENSMUSG00000020024

Gene Name

centrosomal protein 83

Synonyms

Ccdc41, 5730513H21Rik, 4921537D05Rik, 2600001G24Rik

MMRRC Submission

040594-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3121 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94524476-94626201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94622700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 592 (V592A)

Ref Sequence

ENSEMBL: ENSMUSP00000020212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020212] [ENSMUST00000099337]

AlphaFold

Q9D5R3

Predicted Effect

probably damaging
Transcript: ENSMUST00000020212
AA Change: V592A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020212
Gene: ENSMUSG00000020024
AA Change: V592A

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

probably benign
Transcript: ENSMUST00000099337

SMART Domains

Protein: ENSMUSP00000096939
Gene: ENSMUSG00000074785

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:Sema	87	431	5.5e-10	PFAM
PSI	454	507	5.28e-12	SMART
PSI	590	634	1.07e-3	SMART
Pfam:TIG	665	752	3.7e-9	PFAM
IPT	755	847	5.14e-7	SMART
IPT	849	954	1.8e-2	SMART
low complexity region	978	997	N/A	INTRINSIC
Pfam:Plexin_cytopl	1018	1541	1.4e-199	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218201

Meta Mutation Damage Score

0.1497

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (52/52)

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
Abcg5	A	T	17: 84,966,091 (GRCm39)	M423K	probably benign	Het
Adamtsl1	T	A	4: 86,255,246 (GRCm39)	W780R	probably damaging	Het
Ago3	A	G	4: 126,311,165 (GRCm39)	I16T	probably benign	Het
Amph	T	A	13: 19,297,316 (GRCm39)	L354*	probably null	Het
Ankk1	G	A	9: 49,338,267 (GRCm39)	L9F	probably benign	Het
Brdt	A	G	5: 107,525,011 (GRCm39)	T851A	probably damaging	Het
Bzw2	A	C	12: 36,170,788 (GRCm39)		probably null	Het
Capn7	A	T	14: 31,081,167 (GRCm39)	I395F	probably damaging	Het
Ccdc146	T	C	5: 21,499,591 (GRCm39)	R864G	possibly damaging	Het
Ccdc50	G	T	16: 27,228,139 (GRCm39)	R102L	possibly damaging	Het
Cgn	G	A	3: 94,685,792 (GRCm39)		probably benign	Het
Cidec	C	A	6: 113,405,086 (GRCm39)	V195L	probably benign	Het
Cntln	A	G	4: 84,923,289 (GRCm39)		probably benign	Het
Cntrob	A	T	11: 69,213,526 (GRCm39)	L88*	probably null	Het
Dnah17	C	T	11: 117,931,912 (GRCm39)	V3687M	probably damaging	Het
Dst	T	C	1: 34,328,729 (GRCm39)	I4599T	probably damaging	Het
Dtl	A	T	1: 191,285,175 (GRCm39)	Y320*	probably null	Het
Fam98b	A	G	2: 117,098,408 (GRCm39)	T293A	probably damaging	Het
Farp1	G	A	14: 121,460,138 (GRCm39)		probably benign	Het
Fat2	G	T	11: 55,202,622 (GRCm39)	P151T	probably damaging	Het
Fbxl17	A	T	17: 63,778,419 (GRCm39)	M497K	probably damaging	Het
Foxn4	T	C	5: 114,396,776 (GRCm39)	T236A	probably damaging	Het
Gm525	C	T	11: 88,979,374 (GRCm39)		probably benign	Het
Golga4	C	A	9: 118,386,448 (GRCm39)	T1190K	possibly damaging	Het
H2-T23	T	A	17: 36,341,855 (GRCm39)	M248L	probably benign	Het
Homez	T	C	14: 55,094,778 (GRCm39)	E310G	probably benign	Het
Hydin	A	G	8: 111,233,138 (GRCm39)	I1746V	probably benign	Het
Igkv1-35	T	A	6: 69,988,641 (GRCm39)	H6L	probably benign	Het
Kcnt2	T	C	1: 140,356,622 (GRCm39)	S354P	probably damaging	Het
Khdc4	A	G	3: 88,596,599 (GRCm39)	T127A	probably damaging	Het
Klra4	G	T	6: 130,040,141 (GRCm39)	Q44K	probably benign	Het
L3mbtl3	A	G	10: 26,220,119 (GRCm39)		probably benign	Het
Lamb1	C	T	12: 31,337,528 (GRCm39)	R372C	probably damaging	Het
Magea14	A	T	X: 51,057,968 (GRCm39)	Y239*	probably null	Het
Map3k9	A	G	12: 81,790,698 (GRCm39)	I285T	probably damaging	Het
Or4a47	T	A	2: 89,665,858 (GRCm39)	I144L	probably benign	Het
Or6c6	A	G	10: 129,186,552 (GRCm39)	N40S	possibly damaging	Het
Pcdhb16	A	T	18: 37,611,271 (GRCm39)	Q77L	possibly damaging	Het
Pramel20	T	A	4: 143,297,583 (GRCm39)	M1K	probably null	Het
Proser3	A	G	7: 30,239,796 (GRCm39)	V436A	probably benign	Het
Relch	A	G	1: 105,653,524 (GRCm39)	N834S	probably benign	Het
Resf1	T	A	6: 149,230,741 (GRCm39)	C1262*	probably null	Het
Sec24b	C	T	3: 129,795,953 (GRCm39)		probably null	Het
Slc2a2	A	G	3: 28,775,898 (GRCm39)	Q336R	probably benign	Het
Sowahb	T	C	5: 93,191,261 (GRCm39)	D486G	possibly damaging	Het
Spidr	T	C	16: 15,958,724 (GRCm39)	K13E	probably damaging	Het
Tiam2	T	A	17: 3,489,977 (GRCm39)	M786K	probably benign	Het
Tktl2	T	A	8: 66,964,808 (GRCm39)	V122E	probably damaging	Het
Wapl	A	G	14: 34,451,172 (GRCm39)	I729M	possibly damaging	Het
Zbbx	T	C	3: 74,989,153 (GRCm39)	T317A	possibly damaging	Het
Zfp976	A	G	7: 42,262,938 (GRCm39)	C300R	probably damaging	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
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
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'- AGTGCCTTAAGTATCCACCATC -3'
(R):5'- TACAGTGAGCTCAGAAACAAAGTGC -3'

Sequencing Primer
(F):5'- GGAAATTATGTATCAGCGTAC -3'
(R):5'- GCTTTTCCAAAGGACCAGTG -3'

Posted On

2015-02-05