Mutagenetix > Incidental Mutations

Incidental Mutation 'R6037:Cfap52'

486643

Institutional Source

Beutler Lab

Gene Symbol

Cfap52

Ensembl Gene

ENSMUSG00000020904

Gene Name

cilia and flagella associated protein 52

Synonyms

4933417B11Rik, Wdr16, 1700019F09Rik

MMRRC Submission

043258-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.850) question?

Stock #

R6037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67924806-67965651 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67946300 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 212 (G212R)

Ref Sequence

ENSEMBL: ENSMUSP00000116496 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000021287
AA Change: G212R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: G212R

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 benign
Transcript: ENSMUST00000126766
AA Change: G212R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904
AA Change: G212R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142929

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abi2	C	A	1: 60,464,579	P212T	probably damaging	Het
Ano4	A	G	10: 89,317,246	F68S	possibly damaging	Het
Art5	C	A	7: 102,098,384	A63S	probably benign	Het
Asgr1	T	A	11: 70,056,421	S96R	probably benign	Het
Bdp1	A	T	13: 100,027,449	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 136,070,967	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,513,539	K357E	probably damaging	Het
Dcun1d3	A	G	7: 119,857,742	F249S	probably damaging	Het
Ece2	A	G	16: 20,630,362	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,921,760	T425I	probably damaging	Het
Eprs	A	G	1: 185,396,109	E562G	probably damaging	Het
Fbn2	T	C	18: 58,044,223	T2001A	probably benign	Het
Flt4	G	A	11: 49,637,040	R940H	probably damaging	Het
Fry	T	A	5: 150,428,179	M1716K	probably benign	Het
Gm10684	T	A	9: 45,107,741		probably benign	Het
Gm281	T	C	14: 13,864,282	N348S	probably damaging	Het
Hivep1	G	A	13: 42,157,940	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Il23r	C	T	6: 67,478,954	V177M	probably damaging	Het
Klf12	T	C	14: 99,900,214	S299G	probably benign	Het
Lama5	G	A	2: 180,207,013	R265C	probably damaging	Het
Lifr	A	G	15: 7,186,943	T800A	probably damaging	Het
Megf8	T	C	7: 25,364,406	L2729P	probably damaging	Het
Mki67	A	C	7: 135,696,803	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,484,004	K400E	probably damaging	Het
Nomo1	T	A	7: 46,062,999	I656N	possibly damaging	Het
Oas3	T	C	5: 120,769,319	T418A	probably benign	Het
Olfr1034	T	C	2: 86,046,584	M34T	probably benign	Het
Olfr1066	T	A	2: 86,455,789	I161L	probably benign	Het
Olfr147	T	A	9: 38,403,305	C144S	probably benign	Het
Olfr301	C	T	7: 86,413,270	L303F	probably benign	Het
Olfr936	A	G	9: 39,047,107	V104A	probably damaging	Het
Olr1	A	G	6: 129,493,541	L221P	probably damaging	Het
Pih1d1	C	T	7: 45,156,314	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,819,766	S656R	probably damaging	Het
Polr3f	A	G	2: 144,536,023	D171G	probably damaging	Het
Rasal1	T	C	5: 120,649,501	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Sptbn4	T	A	7: 27,364,170	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,612,228	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,417,292	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 64,081,729	Q30K	probably benign	Het
Wipf2	C	T	11: 98,896,179	P345S	probably benign	Het
Zeb2	G	T	2: 44,988,640	S1170*	probably null	Het
Zfp947	A	G	17: 22,147,434	Y38H	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
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
R7966:Cfap52	UTSW	11	67953745	splice site	probably null
R8303:Cfap52	UTSW	11	67939795	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAATGGGACCTCTTAGCGCTTG -3'
(R):5'- CTGTCAGCTTCTCCTTCAAGAG -3'

Sequencing Primer
(F):5'- TGTGCTCCTTCCCAGCTGTG -3'
(R):5'- TCCTTCAAGAGGGGGTGAG -3'

Posted On

2017-08-16