Mutagenetix > Incidental Mutations

Incidental Mutation 'R7580:Cfap52'

586700

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 #

R7580 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67924806-67965651 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67946320 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 205 (K205I)

Ref Sequence

ENSEMBL: ENSMUSP00000021287 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021287
AA Change: K205I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: K205I

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: K205I

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904
AA Change: K205I

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (54/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 60,845,226	Y213F	probably damaging	Het
Adamdec1	A	G	14: 68,565,531	S462P	probably benign	Het
Adamtsl1	T	A	4: 86,054,064	C3S	possibly damaging	Het
Bag1	C	T	4: 40,947,836	E123K	probably benign	Het
Brip1	A	G	11: 86,157,601	L305P	probably damaging	Het
Cage1	T	A	13: 38,022,724	I382F	possibly damaging	Het
Cmtr2	T	A	8: 110,221,677	N206K	probably damaging	Het
Defb34	G	A	8: 19,126,410	C39Y	possibly damaging	Het
Dennd3	T	C	15: 73,556,447	S881P	possibly damaging	Het
Dglucy	C	T	12: 100,850,164	A325V	probably benign	Het
Dnah8	A	G	17: 30,775,103	E3398G	probably damaging	Het
Dsc2	A	T	18: 20,050,073	I96K	probably damaging	Het
Endov	C	T	11: 119,499,866		probably benign	Het
Fam208a	A	G	14: 27,466,286	I896M	probably benign	Het
Fam208b	G	A	13: 3,574,752	P1733S	probably damaging	Het
Fer1l6	A	T	15: 58,558,396	Q224L	probably benign	Het
Fmo2	T	C	1: 162,877,044	N431S	possibly damaging	Het
Gata3	A	C	2: 9,863,132	V337G	probably damaging	Het
Gm15448	A	T	7: 3,824,612	F182Y	unknown	Het
Gtse1	G	A	15: 85,862,231	V83M	probably damaging	Het
Hgd	C	A	16: 37,618,879	P224H	possibly damaging	Het
Kcnh6	T	C	11: 106,017,548	V330A	probably damaging	Het
Kiz	C	G	2: 146,956,249	I631M	probably damaging	Het
Klhl18	T	C	9: 110,436,050	D366G	probably benign	Het
Lrmda	C	T	14: 22,019,857		probably benign	Het
Mc1r	G	T	8: 123,408,167	A220S	probably damaging	Het
Megf6	T	A	4: 154,270,744	C1505*	probably null	Het
Mmp20	C	T	9: 7,654,143	R355*	probably null	Het
Mmp28	T	A	11: 83,444,832	Q280L	probably damaging	Het
Mppe1	C	T	18: 67,237,417	A70T	probably damaging	Het
Mtif3	T	G	5: 146,958,947	D110A	possibly damaging	Het
Mtss1l	G	A	8: 110,737,636	R361H	possibly damaging	Het
Mvp	T	C	7: 126,992,311	D542G	probably damaging	Het
Nlrp5	T	C	7: 23,433,749	C940R	probably damaging	Het
Nmur2	C	T	11: 56,026,982	V394I	probably benign	Het
Nwd2	A	G	5: 63,808,281	H1736R	probably benign	Het
Olfr135	T	C	17: 38,209,043	I266T	probably benign	Het
Purg	A	G	8: 33,416,633	Y317C	possibly damaging	Het
Ralgapa1	T	A	12: 55,718,228	M880L	probably benign	Het
Rap1gap	T	C	4: 137,719,982	F413L	possibly damaging	Het
Sart3	A	T	5: 113,754,379		probably null	Het
Scaf4	G	A	16: 90,229,852	Q1026*	probably null	Het
Slc26a1	A	G	5: 108,671,869	L504P	probably damaging	Het
Slc35d1	C	A	4: 103,208,133	V184L		Het
Slc5a11	C	T	7: 123,265,198	A339V	probably damaging	Het
Stab2	A	T	10: 86,869,164	M1780K	probably benign	Het
Tas1r2	G	A	4: 139,659,745	D172N	probably benign	Het
Thoc1	A	T	18: 9,986,343	K358N	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,582,989		probably benign	Het
Ttll8	A	C	15: 88,933,929	L181R	probably damaging	Het
Ubl4b	G	A	3: 107,554,468	Q159*	probably null	Het
Xrn1	A	G	9: 96,011,679	H967R	not run	Het
Zeb2	T	C	2: 44,994,532	D1049G	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
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'- ATGGGACCTCTTAGCGCTTG -3'
(R):5'- CTGTCAGCTTCTCCTTCAAGAG -3'

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

Posted On

2019-10-24