Mutagenetix > Incidental Mutations

Incidental Mutation 'R7966:Cfap52'

656421

Institutional Source

Beutler Lab

Gene Symbol

Cfap52

Ensembl Gene

ENSMUSG00000020904

Gene Name

cilia and flagella associated protein 52

Synonyms

4933417B11Rik, Wdr16, 1700019F09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.850) question?

Stock #

R7966 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67924806-67965651 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 67953745 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021287] [ENSMUST00000126766]

Predicted Effect

probably null
Transcript: ENSMUST00000021287

SMART Domains

Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904

Domain	Start	End	E-Value	Type
WD40	53	97	3.71e-1	SMART
WD40	100	141	3.45e-3	SMART
WD40	149	186	1.03e1	SMART
low complexity region	262	273	N/A	INTRINSIC
WD40	280	318	9.86e1	SMART
WD40	321	360	6.6e1	SMART
WD40	363	402	8.56e0	SMART
WD40	405	445	2.27e-3	SMART
WD40	450	489	3.14e-6	SMART
WD40	492	530	9.21e0	SMART
WD40	533	573	6.19e-5	SMART
WD40	576	615	2.15e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000126766

SMART Domains

Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904

Domain	Start	End	E-Value	Type
WD40	53	97	3.71e-1	SMART
WD40	100	141	3.45e-3	SMART
WD40	149	186	1.03e1	SMART
Blast:WD40	190	233	4e-12	BLAST
low complexity region	262	273	N/A	INTRINSIC
WD40	280	318	9.86e1	SMART
Blast:WD40	321	342	1e-6	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	T	6: 40,926,088	Y117N	probably benign	Het
2700049A03Rik	A	T	12: 71,173,129	I817L	probably benign	Het
Adcy8	A	T	15: 64,702,090	W1055R	probably damaging	Het
Anks4b	A	G	7: 120,182,700	E318G	probably benign	Het
Arid3a	A	G	10: 79,932,055	T229A	probably benign	Het
Cckar	T	C	5: 53,701,238	K247E	possibly damaging	Het
Ckap4	A	G	10: 84,527,585	V538A	probably damaging	Het
Cped1	T	C	6: 22,059,954		probably null	Het
Ctsf	T	G	19: 4,856,539	F165V	probably damaging	Het
Cyp4v3	G	T	8: 45,332,917	A21E	probably benign	Het
Cytip	T	C	2: 58,147,932	E140G	probably damaging	Het
D130043K22Rik	A	C	13: 24,893,423	Q1013P	probably damaging	Het
Dpp6	A	G	5: 27,723,372	M763V	probably benign	Het
Eps15	T	A	4: 109,321,143	Y193N	probably damaging	Het
Ghrhr	T	C	6: 55,379,098	W59R	probably damaging	Het
Hdac4	A	G	1: 91,933,680	V1056A	possibly damaging	Het
Ipcef1	T	C	10: 6,900,668	T312A	probably damaging	Het
Itpr3	T	C	17: 27,112,028		probably null	Het
Kif6	A	G	17: 49,686,425	I182V	probably damaging	Het
Lcn3	A	G	2: 25,766,377	K90E	probably damaging	Het
Lig3	T	C	11: 82,790,516	S446P	probably damaging	Het
Ncln	G	A	10: 81,490,269	Q283*	probably null	Het
Nlrp4c	A	G	7: 6,066,323	T408A	probably damaging	Het
Oas1h	T	C	5: 120,871,899	F346L	probably damaging	Het
Olfr1368	A	T	13: 21,142,186	Y290*	probably null	Het
Olfr547	T	C	7: 102,535,416	I223T	probably damaging	Het
Olfr591	A	T	7: 103,172,855	F261I	probably damaging	Het
Olfr922	A	G	9: 38,816,240	I246V	probably benign	Het
Olig2	AGCCGCCGCCGCCGCCGCAGCCGCCGCCGCCGC	AGCCGCCGCCGCCGCAGCCGCCGCCGCCGC	16: 91,227,074		probably benign	Het
Pdcd1	A	T	1: 94,041,461	V44E	probably damaging	Het
Prdm13	A	T	4: 21,679,932	I186N	unknown	Het
Prpf4b	A	G	13: 34,901,445	D958G	probably damaging	Het
Prune2	A	G	19: 17,178,859	N2792S	probably damaging	Het
Robo1	T	A	16: 72,983,872	I830N	possibly damaging	Het
Scaper	A	G	9: 55,762,327	V355A	probably damaging	Het
Scn3b	C	T	9: 40,282,550	A191V	probably benign	Het
Slc13a3	G	C	2: 165,430,235	S296C	probably benign	Het
Slc6a16	T	A	7: 45,268,053	I445N	possibly damaging	Het
Snrnp35	A	G	5: 124,490,502	Y126C	possibly damaging	Het
Spock2	A	G	10: 60,121,732	H98R	possibly damaging	Het
Sptssb	A	T	3: 69,820,953	Y50*	probably null	Het
Syne1	A	G	10: 5,116,965		probably null	Het
Tcf21	T	C	10: 22,819,807	T33A	probably benign	Het
Tecta	A	G	9: 42,394,962	F57L	probably damaging	Het
Tgs1	C	A	4: 3,586,215	P364H	probably benign	Het
Tmem242	A	G	17: 5,411,436	I119T	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Vmn2r3	T	A	3: 64,278,814	N150I	probably damaging	Het
Vmn2r69	A	G	7: 85,411,554	I274T	possibly damaging	Het
Vwf	T	A	6: 125,639,341	L1206*	probably null	Het
Zfp157	T	A	5: 138,447,571	W63R	probably benign	Het
Zfp455	T	C	13: 67,199,238	Y10H	probably benign	Het
Zfp654	T	C	16: 64,784,876	T447A	probably damaging	Het
Zhx2	T	C	15: 57,821,667	I144T	probably damaging	Het

Other mutations in Cfap52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01758:Cfap52	APN	11	67953580	missense	possibly damaging	0.67
IGL02034:Cfap52	APN	11	67946292	splice site	probably null
IGL02530:Cfap52	APN	11	67954181	splice site	probably benign
IGL02558:Cfap52	APN	11	67954138	missense	probably benign	0.31
IGL02873:Cfap52	APN	11	67931782	missense	probably damaging	1.00
IGL02887:Cfap52	APN	11	67953515	missense	probably damaging	1.00
IGL02956:Cfap52	APN	11	67954075	missense	probably benign
IGL03068:Cfap52	APN	11	67935856	missense	probably benign	0.11
IGL03216:Cfap52	APN	11	67954106	missense	possibly damaging	0.81
IGL03287:Cfap52	APN	11	67935976	unclassified	probably benign
IGL03370:Cfap52	APN	11	67939055	missense	probably damaging	0.98
chewbacca	UTSW	11	67925125	missense	possibly damaging	0.95
R0103:Cfap52	UTSW	11	67925125	missense	possibly damaging	0.95
R0103:Cfap52	UTSW	11	67925125	missense	possibly damaging	0.95
R0244:Cfap52	UTSW	11	67926382	missense	possibly damaging	0.90
R0306:Cfap52	UTSW	11	67954070	missense	probably benign
R0364:Cfap52	UTSW	11	67953610	missense	possibly damaging	0.80
R0440:Cfap52	UTSW	11	67954088	missense	probably benign
R0565:Cfap52	UTSW	11	67949599	missense	probably benign	0.00
R1068:Cfap52	UTSW	11	67939004	missense	probably benign	0.10
R1082:Cfap52	UTSW	11	67925172	missense	probably damaging	0.99
R1509:Cfap52	UTSW	11	67938993	missense	probably benign	0.00
R1894:Cfap52	UTSW	11	67953619	critical splice acceptor site	probably null
R2994:Cfap52	UTSW	11	67939791	missense	probably benign
R3954:Cfap52	UTSW	11	67930865	missense	probably benign
R4611:Cfap52	UTSW	11	67926421	missense	probably damaging	0.99
R4922:Cfap52	UTSW	11	67931722	critical splice donor site	probably null
R5624:Cfap52	UTSW	11	67927358	missense	possibly damaging	0.92
R5762:Cfap52	UTSW	11	67954121	missense	possibly damaging	0.71
R5970:Cfap52	UTSW	11	67930744	missense	probably damaging	1.00
R6037:Cfap52	UTSW	11	67946300	missense	probably benign	0.00
R6037:Cfap52	UTSW	11	67946300	missense	probably benign	0.00
R6260:Cfap52	UTSW	11	67938954	missense	possibly damaging	0.85
R7401:Cfap52	UTSW	11	67949633	missense	probably benign	0.02
R7580:Cfap52	UTSW	11	67946320	missense	probably damaging	1.00
R7831:Cfap52	UTSW	11	67935956	missense	possibly damaging	0.89
R8303:Cfap52	UTSW	11	67939795	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCAAGGCTTCGATTTTGCC -3'
(R):5'- TACTTAGAGGTGCCTCCCTG -3'

Sequencing Primer
(F):5'- TGCCCTTGTGAAGTGACAGC -3'
(R):5'- GGAAGAGTTCCCTGACTTCG -3'

Posted On

2020-11-11