Mutagenetix > Incidental Mutation

Incidental Mutation 'R6260:Cfap52'

506638

Institutional Source

Beutler Lab

Gene Symbol

Cfap52

Ensembl Gene

ENSMUSG00000020904

Gene Name

cilia and flagella associated protein 52

Synonyms

Wdr16, 4933417B11Rik, 1700019F09Rik

MMRRC Submission

044377-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.794) question?

Stock #

R6260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67815632-67856477 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67829780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 330 (C330S)

Ref Sequence

ENSEMBL: ENSMUSP00000021287 (fasta)

Gene Model

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

AlphaFold

Q5F201

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021287
AA Change: C330S

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: C330S

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

possibly damaging
Transcript: ENSMUST00000126766
AA Change: C330S

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904
AA Change: C330S

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

Meta Mutation Damage Score

0.3629

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,844,821 (GRCm39)	N1514K	probably damaging	Het
Abcb4	G	T	5: 8,984,219 (GRCm39)	G650*	probably null	Het
Acsbg1	T	A	9: 54,535,751 (GRCm39)		probably null	Het
Alms1	A	T	6: 85,605,717 (GRCm39)	K2456*	probably null	Het
Alppl2	A	T	1: 87,016,184 (GRCm39)	M225K	probably damaging	Het
Ank2	C	T	3: 126,737,206 (GRCm39)	V2806I	probably benign	Het
Atxn10	A	T	15: 85,346,612 (GRCm39)	I457F	probably benign	Het
Cad	G	T	5: 31,224,144 (GRCm39)	M800I	probably null	Het
Carmil3	T	A	14: 55,737,889 (GRCm39)	L815Q	probably damaging	Het
Ccz1	A	G	5: 143,940,859 (GRCm39)		probably null	Het
Cdc73	G	A	1: 143,567,211 (GRCm39)	T104I	probably benign	Het
Clec16a	C	T	16: 10,512,712 (GRCm39)		probably benign	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Crocc2	A	G	1: 93,141,360 (GRCm39)	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,676,281 (GRCm39)	V86A	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddhd2	A	G	8: 26,242,144 (GRCm39)	F244L	probably benign	Het
Ddn	A	G	15: 98,703,735 (GRCm39)	V519A	possibly damaging	Het
Dip2b	G	T	15: 100,060,583 (GRCm39)	V253L	probably benign	Het
Dnah17	C	A	11: 118,017,148 (GRCm39)	W197C	probably damaging	Het
Dnah17	A	T	11: 118,017,150 (GRCm39)	W197R	probably damaging	Het
Dnah17	C	T	11: 118,017,149 (GRCm39)	W197*	probably null	Het
Ercc6	T	A	14: 32,279,813 (GRCm39)	D609E	probably benign	Het
Erg	C	A	16: 95,181,100 (GRCm39)	R147L	probably damaging	Het
Fbxo41	A	T	6: 85,455,537 (GRCm39)	L549H	probably damaging	Het
Foxd4	A	G	19: 24,876,968 (GRCm39)	S411P	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Galntl6	T	A	8: 58,337,515 (GRCm39)	D135V	probably damaging	Het
Gm1043	G	C	5: 37,331,816 (GRCm39)	G832A	probably benign	Het
Gm21103	C	T	14: 17,484,841 (GRCm39)	E68K	probably damaging	Het
Gpam	A	G	19: 55,071,838 (GRCm39)	V301A	probably benign	Het
H2-M10.1	T	A	17: 36,634,994 (GRCm39)	I304F	unknown	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jak3	C	A	8: 72,131,954 (GRCm39)	Q177K	probably benign	Het
Kcnu1	G	A	8: 26,341,919 (GRCm39)	R88H	probably damaging	Het
Kng1	A	T	16: 22,877,371 (GRCm39)	I60F	possibly damaging	Het
Krt77	A	T	15: 101,772,807 (GRCm39)	Y257*	probably null	Het
Lcor	G	T	19: 41,570,810 (GRCm39)	S1I	possibly damaging	Het
Lcor	A	T	19: 41,570,809 (GRCm39)	S1C	probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Map4k5	C	A	12: 69,878,336 (GRCm39)	R355L	probably benign	Het
Mefv	C	T	16: 3,530,898 (GRCm39)	R498H	probably benign	Het
Mical3	A	T	6: 120,985,991 (GRCm39)	L150Q	probably damaging	Het
Mtcl1	T	A	17: 66,650,536 (GRCm39)	Q1340L	probably damaging	Het
Nfic	A	T	10: 81,256,351 (GRCm39)	C126*	probably null	Het
Nisch	T	A	14: 30,899,085 (GRCm39)		probably benign	Het
Nt5dc3	A	G	10: 86,647,395 (GRCm39)	Y130C	probably damaging	Het
Or2ag1b	A	T	7: 106,288,079 (GRCm39)	N286K	probably damaging	Het
Or4f15	C	T	2: 111,814,396 (GRCm39)	V8I	probably benign	Het
Or6c65	C	A	10: 129,603,389 (GRCm39)	T8K	probably benign	Het
Pcdhb12	T	C	18: 37,569,892 (GRCm39)	V346A	probably benign	Het
Pla2g4a	A	G	1: 149,733,238 (GRCm39)	S504P	probably benign	Het
Plin2	G	T	4: 86,575,526 (GRCm39)	A341D	probably damaging	Het
Plxnb2	A	T	15: 89,049,494 (GRCm39)	I575N	probably benign	Het
Pnma8b	T	G	7: 16,680,158 (GRCm39)	W381G	probably benign	Het
Psma8	A	G	18: 14,854,324 (GRCm39)	D68G	probably damaging	Het
Rcor3	G	A	1: 191,808,559 (GRCm39)	H207Y	probably benign	Het
Rwdd2b	C	A	16: 87,231,356 (GRCm39)	G266V	probably damaging	Het
Ryr3	A	G	2: 112,490,449 (GRCm39)	F3795S	probably damaging	Het
Slc28a2b	A	T	2: 122,353,963 (GRCm39)	I530F	probably damaging	Het
Sord	T	A	2: 122,089,613 (GRCm39)		probably null	Het
Spdl1	T	A	11: 34,710,713 (GRCm39)	N345I	probably damaging	Het
St8sia2	T	A	7: 73,626,441 (GRCm39)	R42S	possibly damaging	Het
Syt9	G	T	7: 107,035,717 (GRCm39)	V245F	possibly damaging	Het
Tbpl2	T	A	2: 23,984,898 (GRCm39)	N82I	possibly damaging	Het
Tcerg1	T	A	18: 42,686,530 (GRCm39)	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,595,655 (GRCm39)	T492A	probably benign	Het
Timm13	A	C	10: 80,736,135 (GRCm39)		probably benign	Het
Trdmt1	T	A	2: 13,524,870 (GRCm39)	Q195L	probably benign	Het
Ttc27	T	A	17: 75,165,086 (GRCm39)	V764D	probably damaging	Het
Ttc39d	C	A	17: 80,524,076 (GRCm39)	S245*	probably null	Het
Ttc41	A	G	10: 86,567,023 (GRCm39)	E563G	probably benign	Het
Ttc41	A	T	10: 86,569,571 (GRCm39)	T650S	probably benign	Het
U2surp	A	C	9: 95,358,210 (GRCm39)	L723R	probably damaging	Het
Ubqln3	G	A	7: 103,791,524 (GRCm39)	Q189*	probably null	Het
Vezf1	A	G	11: 87,972,326 (GRCm39)	N229S	probably damaging	Het
Vmn2r79	T	A	7: 86,686,365 (GRCm39)	M582K	probably benign	Het
Zfp518a	A	G	19: 40,902,567 (GRCm39)	D832G	probably benign	Het
Zfyve28	T	C	5: 34,356,216 (GRCm39)	N762D	probably damaging	Het

Other mutations in Cfap52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01758:Cfap52	APN	11	67,844,406 (GRCm39)	missense	possibly damaging	0.67
IGL02034:Cfap52	APN	11	67,837,118 (GRCm39)	splice site	probably null
IGL02530:Cfap52	APN	11	67,845,007 (GRCm39)	splice site	probably benign
IGL02558:Cfap52	APN	11	67,844,964 (GRCm39)	missense	probably benign	0.31
IGL02873:Cfap52	APN	11	67,822,608 (GRCm39)	missense	probably damaging	1.00
IGL02887:Cfap52	APN	11	67,844,341 (GRCm39)	missense	probably damaging	1.00
IGL02956:Cfap52	APN	11	67,844,901 (GRCm39)	missense	probably benign
IGL03068:Cfap52	APN	11	67,826,682 (GRCm39)	missense	probably benign	0.11
IGL03216:Cfap52	APN	11	67,844,932 (GRCm39)	missense	possibly damaging	0.81
IGL03287:Cfap52	APN	11	67,826,802 (GRCm39)	unclassified	probably benign
IGL03370:Cfap52	APN	11	67,829,881 (GRCm39)	missense	probably damaging	0.98
chewbacca	UTSW	11	67,815,951 (GRCm39)	missense	possibly damaging	0.95
R0103:Cfap52	UTSW	11	67,815,951 (GRCm39)	missense	possibly damaging	0.95
R0103:Cfap52	UTSW	11	67,815,951 (GRCm39)	missense	possibly damaging	0.95
R0244:Cfap52	UTSW	11	67,817,208 (GRCm39)	missense	possibly damaging	0.90
R0306:Cfap52	UTSW	11	67,844,896 (GRCm39)	missense	probably benign
R0364:Cfap52	UTSW	11	67,844,436 (GRCm39)	missense	possibly damaging	0.80
R0440:Cfap52	UTSW	11	67,844,914 (GRCm39)	missense	probably benign
R0565:Cfap52	UTSW	11	67,840,425 (GRCm39)	missense	probably benign	0.00
R1068:Cfap52	UTSW	11	67,829,830 (GRCm39)	missense	probably benign	0.10
R1082:Cfap52	UTSW	11	67,815,998 (GRCm39)	missense	probably damaging	0.99
R1509:Cfap52	UTSW	11	67,829,819 (GRCm39)	missense	probably benign	0.00
R1894:Cfap52	UTSW	11	67,844,445 (GRCm39)	critical splice acceptor site	probably null
R2994:Cfap52	UTSW	11	67,830,617 (GRCm39)	missense	probably benign
R3954:Cfap52	UTSW	11	67,821,691 (GRCm39)	missense	probably benign
R4611:Cfap52	UTSW	11	67,817,247 (GRCm39)	missense	probably damaging	0.99
R4922:Cfap52	UTSW	11	67,822,548 (GRCm39)	critical splice donor site	probably null
R5624:Cfap52	UTSW	11	67,818,184 (GRCm39)	missense	possibly damaging	0.92
R5762:Cfap52	UTSW	11	67,844,947 (GRCm39)	missense	possibly damaging	0.71
R5970:Cfap52	UTSW	11	67,821,570 (GRCm39)	missense	probably damaging	1.00
R6037:Cfap52	UTSW	11	67,837,126 (GRCm39)	missense	probably benign	0.00
R6037:Cfap52	UTSW	11	67,837,126 (GRCm39)	missense	probably benign	0.00
R7401:Cfap52	UTSW	11	67,840,459 (GRCm39)	missense	probably benign	0.02
R7580:Cfap52	UTSW	11	67,837,146 (GRCm39)	missense	probably damaging	1.00
R7831:Cfap52	UTSW	11	67,826,782 (GRCm39)	missense	possibly damaging	0.89
R7966:Cfap52	UTSW	11	67,844,571 (GRCm39)	splice site	probably null
R8303:Cfap52	UTSW	11	67,830,621 (GRCm39)	missense	probably benign	0.00
R8998:Cfap52	UTSW	11	67,818,137 (GRCm39)	missense	probably damaging	1.00
R8999:Cfap52	UTSW	11	67,818,137 (GRCm39)	missense	probably damaging	1.00
R9074:Cfap52	UTSW	11	67,822,656 (GRCm39)	missense	probably benign	0.32
R9169:Cfap52	UTSW	11	67,844,860 (GRCm39)	missense	possibly damaging	0.67
R9394:Cfap52	UTSW	11	67,815,921 (GRCm39)	makesense	probably null
R9645:Cfap52	UTSW	11	67,837,179 (GRCm39)	missense	possibly damaging	0.68
R9683:Cfap52	UTSW	11	67,822,639 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAACGTGTGTCACTCTTGCC -3'
(R):5'- TGGTTGAATGACTCTGCTTCAC -3'

Sequencing Primer
(F):5'- TGGCGACTCAAAATAGTCTGC -3'
(R):5'- ACTTTTGTGCATTACCCCCGAAG -3'

Posted On

2018-03-15