Mutagenetix > Incidental Mutation

Incidental Mutation 'R0364:Cfap52'

30242

Institutional Source

Beutler Lab

Gene Symbol

Cfap52

Ensembl Gene

ENSMUSG00000020904

Gene Name

cilia and flagella associated protein 52

Synonyms

Wdr16, 4933417B11Rik, 1700019F09Rik

MMRRC Submission

038570-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.794) question?

Stock #

R0364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67815632-67856477 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67844436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 93 (I93S)

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: I93S

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: I93S

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: I93S

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904
AA Change: I93S

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

Meta Mutation Damage Score

0.3713

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (86/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,310,553 (GRCm39)		probably benign	Het
Ano7	A	G	1: 93,316,380 (GRCm39)	D221G	probably benign	Het
Arhgef12	A	T	9: 42,929,697 (GRCm39)	N199K	probably damaging	Het
Arpc2	A	G	1: 74,276,046 (GRCm39)	N26S	probably null	Het
Camta2	G	A	11: 70,574,136 (GRCm39)	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,627,282 (GRCm39)	N665I	probably damaging	Het
Ccdc178	C	T	18: 22,048,119 (GRCm39)	R757H	probably damaging	Het
Cmklr1	A	T	5: 113,752,578 (GRCm39)	L141H	probably damaging	Het
Crybb3	T	A	5: 113,223,819 (GRCm39)	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,504,155 (GRCm39)	P97S	probably benign	Het
Cubn	T	C	2: 13,315,318 (GRCm39)		probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,253 (GRCm39)		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,290,117 (GRCm39)	N223K	probably benign	Het
Dennd2a	T	C	6: 39,485,233 (GRCm39)	T349A	probably benign	Het
Dnah12	A	G	14: 26,445,628 (GRCm39)	T730A	probably benign	Het
Dock5	G	A	14: 68,060,129 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,221,097 (GRCm39)		probably benign	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,748,663 (GRCm39)	K503*	probably null	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Eng	T	C	2: 32,569,149 (GRCm39)	S559P	probably benign	Het
Epc2	T	A	2: 49,427,145 (GRCm39)	V563E	possibly damaging	Het
Fbxw17	T	C	13: 50,586,477 (GRCm39)	S40P	possibly damaging	Het
Flt4	A	T	11: 49,527,818 (GRCm39)	M924L	probably benign	Het
Fyb1	A	G	15: 6,610,272 (GRCm39)	K282E	probably damaging	Het
Gabpa	T	A	16: 84,654,275 (GRCm39)	N317K	possibly damaging	Het
Gli3	G	T	13: 15,899,349 (GRCm39)	G912V	probably benign	Het
Gm10295	C	A	7: 71,000,361 (GRCm39)	C73F	unknown	Het
Gm10382	G	T	5: 125,466,728 (GRCm39)		probably benign	Het
Gp1ba	T	C	11: 70,531,284 (GRCm39)		probably benign	Het
Gpr146	G	A	5: 139,364,933 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,723,594 (GRCm39)	Y628C	probably damaging	Het
Hexa	A	G	9: 59,471,218 (GRCm39)	N491D	probably benign	Het
Hexd	T	A	11: 121,102,969 (GRCm39)	H62Q	probably benign	Het
Hpx	G	T	7: 105,245,471 (GRCm39)	Q101K	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	A	T	8: 82,723,943 (GRCm39)	T492S	probably benign	Het
Iqgap2	A	C	13: 95,867,783 (GRCm39)		probably benign	Het
Islr2	T	C	9: 58,107,027 (GRCm39)	T78A	possibly damaging	Het
Itga9	A	G	9: 118,670,210 (GRCm39)	T177A	probably benign	Het
Itpkc	A	C	7: 26,927,174 (GRCm39)	S247A	possibly damaging	Het
Kirrel1	T	C	3: 86,997,106 (GRCm39)	Y287C	probably damaging	Het
Kiz	T	G	2: 146,784,076 (GRCm39)	S536R	probably benign	Het
Klhl9	T	G	4: 88,638,527 (GRCm39)	K571N	probably benign	Het
Kprp	A	T	3: 92,731,642 (GRCm39)	Y469*	probably null	Het
Ksr1	A	T	11: 78,919,851 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,391,466 (GRCm39)	V1320I	possibly damaging	Het
Ltf	A	T	9: 110,854,235 (GRCm39)	N350I	probably benign	Het
Msl3l2	G	A	10: 55,991,947 (GRCm39)	R224Q	possibly damaging	Het
Myh6	A	T	14: 55,185,804 (GRCm39)	Y1490*	probably null	Het
Necap1	A	G	6: 122,857,728 (GRCm39)		probably benign	Het
Nf1	A	T	11: 79,332,783 (GRCm39)	K810*	probably null	Het
Nkx6-3	A	G	8: 23,647,722 (GRCm39)	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,004,830 (GRCm39)		probably benign	Het
Obscn	G	A	11: 59,019,107 (GRCm39)	A969V	probably benign	Het
Or11a4	T	C	17: 37,536,934 (GRCm39)	L306P	possibly damaging	Het
Or7g32	G	A	9: 19,389,268 (GRCm39)	Q90*	probably null	Het
Or8b40	A	G	9: 38,027,325 (GRCm39)	T78A	probably benign	Het
Or8k33	A	T	2: 86,384,123 (GRCm39)	L115Q	probably damaging	Het
Pcdhb17	C	A	18: 37,618,888 (GRCm39)	A226E	possibly damaging	Het
Phldb1	A	T	9: 44,610,632 (GRCm39)		probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pon2	G	A	6: 5,266,156 (GRCm39)	Q288*	probably null	Het
Prr14	G	A	7: 127,073,751 (GRCm39)	R205H	probably benign	Het
Ptpn13	C	A	5: 103,681,214 (GRCm39)	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,735,992 (GRCm39)	V62D	probably damaging	Het
Rab37	G	T	11: 115,047,790 (GRCm39)	C44F	probably damaging	Het
Rbm44	T	C	1: 91,080,069 (GRCm39)	S52P	probably benign	Het
Rusf1	C	T	7: 127,889,786 (GRCm39)	R1H	probably damaging	Het
Scn5a	T	C	9: 119,351,665 (GRCm39)	D772G	probably damaging	Het
Slc7a5	A	G	8: 122,611,754 (GRCm39)	F425L	probably benign	Het
Slk	T	A	19: 47,608,628 (GRCm39)	L527*	probably null	Het
Stpg4	T	A	17: 87,697,142 (GRCm39)		probably null	Het
Taar6	C	A	10: 23,861,046 (GRCm39)	V167L	probably benign	Het
Tas2r123	T	A	6: 132,824,644 (GRCm39)	S180R	probably benign	Het
Tmc2	C	T	2: 130,044,023 (GRCm39)	R86W	probably benign	Het
Tmem200c	T	A	17: 69,147,543 (GRCm39)	V42E	probably damaging	Het
Trhde	T	C	10: 114,338,887 (GRCm39)		probably benign	Het
Tshz1	A	T	18: 84,034,249 (GRCm39)	I53N	probably benign	Het
Tshz3	A	G	7: 36,469,958 (GRCm39)	E649G	probably benign	Het
Ttll7	C	A	3: 146,650,936 (GRCm39)	R719S	possibly damaging	Het
Utp4	T	C	8: 107,625,169 (GRCm39)		probably benign	Het
Vmn1r35	A	G	6: 66,655,827 (GRCm39)	I281T	probably damaging	Het
Vps39	T	G	2: 120,176,119 (GRCm39)	K76T	probably damaging	Het
Whamm	A	G	7: 81,243,799 (GRCm39)	T674A	probably benign	Het
Zbtb16	A	G	9: 48,654,876 (GRCm39)		probably benign	Het
Zfp623	T	C	15: 75,820,510 (GRCm39)	S489P	probably benign	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
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
R6260:Cfap52	UTSW	11	67,829,780 (GRCm39)	missense	possibly damaging	0.85
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

Posted On

2013-04-24