Mutagenetix > Incidental Mutation

Incidental Mutation 'R7953:Cep83'

649674

Institutional Source

Beutler Lab

Gene Symbol

Cep83

Ensembl Gene

ENSMUSG00000020024

Gene Name

centrosomal protein 83

Synonyms

Ccdc41, 5730513H21Rik, 4921537D05Rik, 2600001G24Rik

MMRRC Submission

045997-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7953 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94524476-94626201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 94573804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 231 (N231T)

Ref Sequence

ENSEMBL: ENSMUSP00000020212 (fasta)

Gene Model

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

AlphaFold

Q9D5R3

Predicted Effect

probably damaging
Transcript: ENSMUST00000020212
AA Change: N231T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020212
Gene: ENSMUSG00000020024
AA Change: N231T

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (46/46)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	G	4: 62,450,896 (GRCm39)	R120G	probably null	Het
Abcb9	T	C	5: 124,211,665 (GRCm39)	Y628C	probably damaging	Het
Adrm1b	A	T	3: 92,336,637 (GRCm39)	Y22N	probably benign	Het
Alpk2	C	T	18: 65,482,901 (GRCm39)	C369Y	probably damaging	Het
Caskin1	T	G	17: 24,723,195 (GRCm39)	L661R	probably damaging	Het
Cfap44	G	A	16: 44,234,054 (GRCm39)	G338D	probably benign	Het
Chrna7	T	G	7: 62,753,541 (GRCm39)	K326T	possibly damaging	Het
Col4a4	A	G	1: 82,431,689 (GRCm39)	S1532P	unknown	Het
Cplx4	A	T	18: 66,090,190 (GRCm39)		probably null	Het
Csf1r	G	C	18: 61,257,947 (GRCm39)	G639R	probably damaging	Het
Dnajc27	T	C	12: 4,147,270 (GRCm39)	L151P	possibly damaging	Het
Epha5	A	G	5: 84,381,513 (GRCm39)	V446A	probably benign	Het
Esam	T	C	9: 37,448,317 (GRCm39)	V252A	probably damaging	Het
Flnc	C	A	6: 29,447,828 (GRCm39)	D1210E	probably damaging	Het
Fmn1	G	A	2: 113,426,689 (GRCm39)	M1233I	probably benign	Het
Fstl4	T	C	11: 52,891,050 (GRCm39)	S63P	probably benign	Het
Gas2l2	A	G	11: 83,314,070 (GRCm39)	V414A	possibly damaging	Het
Glra1	G	A	11: 55,424,688 (GRCm39)	P174L	probably damaging	Het
Gm16485	A	T	9: 8,972,196 (GRCm39)	N21Y	unknown	Het
Golga7	A	T	8: 23,746,731 (GRCm39)	C24S	possibly damaging	Het
Ints8	T	C	4: 11,227,128 (GRCm39)	T582A	probably benign	Het
Irx2	A	T	13: 72,777,343 (GRCm39)	T55S	probably benign	Het
Lce1j	A	T	3: 92,696,390 (GRCm39)	C129*	probably null	Het
Mettl25b	T	C	3: 87,834,955 (GRCm39)	N115S	possibly damaging	Het
Mocs1	G	A	17: 49,761,799 (GRCm39)	G631E	possibly damaging	Het
Mpi	A	T	9: 57,457,881 (GRCm39)	L107Q	probably damaging	Het
Msrb2	A	G	2: 19,399,166 (GRCm39)	*176W	probably null	Het
Myh13	T	A	11: 67,231,206 (GRCm39)	L401Q	probably damaging	Het
Npffr2	G	A	5: 89,730,513 (GRCm39)	V148I	probably benign	Het
Oas1a	T	C	5: 121,035,080 (GRCm39)	E360G	probably benign	Het
Or4k15c	A	T	14: 50,321,367 (GRCm39)	I257N	possibly damaging	Het
Or5b96	A	C	19: 12,867,095 (GRCm39)	V282G	probably damaging	Het
Or9g20	A	T	2: 85,630,239 (GRCm39)	I125N	probably damaging	Het
Pcdha2	A	G	18: 37,072,579 (GRCm39)	D70G	probably benign	Het
Phf11b	T	C	14: 59,568,722 (GRCm39)	S64G	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plpp2	A	C	10: 79,366,374 (GRCm39)	L146R	possibly damaging	Het
Poc5	T	A	13: 96,539,408 (GRCm39)	N316K	probably benign	Het
Rad51ap2	A	T	12: 11,512,593 (GRCm39)	R947*	probably null	Het
Ralgapb	A	G	2: 158,307,803 (GRCm39)	H1037R	probably benign	Het
Rpl21	T	C	5: 146,772,702 (GRCm39)	V141A	probably benign	Het
Rufy3	C	A	5: 88,790,851 (GRCm39)	D517E	probably benign	Het
Scn7a	A	G	2: 66,587,670 (GRCm39)	V11A	possibly damaging	Het
Sipa1l1	A	C	12: 82,496,700 (GRCm39)	Q1744P	probably damaging	Het
Smc2	T	C	4: 52,470,911 (GRCm39)		probably null	Het
Sorcs3	T	A	19: 48,752,734 (GRCm39)	L843Q	possibly damaging	Het
Strc	A	T	2: 121,207,844 (GRCm39)	F509Y	probably damaging	Het
Tas2r117	A	C	6: 132,780,281 (GRCm39)	T140P	probably damaging	Het
Tnxb	T	A	17: 34,928,509 (GRCm39)	I2641N	possibly damaging	Het
Tnxb	C	A	17: 34,929,077 (GRCm39)	P2707T	probably benign	Het
Vmn1r4	T	A	6: 56,933,515 (GRCm39)	N6K	probably benign	Het
Vmn1r91	T	A	7: 19,835,218 (GRCm39)	S46T	possibly damaging	Het
Zfp750	T	C	11: 121,402,706 (GRCm39)	T681A	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
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'- TTGCACGACTGGAGAAGGAC -3'
(R):5'- CACTGCTGATCAATCAAAACCTTTC -3'

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

Posted On

2020-09-15