Mutagenetix > Incidental Mutation

Incidental Mutation 'R4611:Cfap52'

344743

Institutional Source

Beutler Lab

Gene Symbol

Cfap52

Ensembl Gene

ENSMUSG00000020904

Gene Name

cilia and flagella associated protein 52

Synonyms

Wdr16, 4933417B11Rik, 1700019F09Rik

MMRRC Submission

041822-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.772) question?

Stock #

R4611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67815632-67856477 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67817247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 549 (N549D)

Ref Sequence

ENSEMBL: ENSMUSP00000021287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021287] [ENSMUST00000021288] [ENSMUST00000108677]

AlphaFold

Q5F201

Predicted Effect

probably damaging
Transcript: ENSMUST00000021287
AA Change: N549D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: N549D

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: ENSMUST00000021288

SMART Domains

Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905

Domain	Start	End	E-Value	Type
low complexity region	8	54	N/A	INTRINSIC
low complexity region	59	87	N/A	INTRINSIC
Pfam:UCH	100	707	2.8e-61	PFAM
Pfam:UCH_1	101	297	1.3e-6	PFAM
Pfam:UCH_1	503	689	5.2e-13	PFAM
low complexity region	717	731	N/A	INTRINSIC
low complexity region	958	972	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000068548

Predicted Effect

probably benign
Transcript: ENSMUST00000108677

SMART Domains

Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905

Domain	Start	End	E-Value	Type
low complexity region	8	54	N/A	INTRINSIC
low complexity region	59	87	N/A	INTRINSIC
Pfam:UCH	100	702	3.5e-54	PFAM
Pfam:UCH_1	101	298	2.7e-7	PFAM
Pfam:UCH_1	503	684	1.2e-9	PFAM
low complexity region	712	726	N/A	INTRINSIC
low complexity region	953	967	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142929

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,885,259 (GRCm39)	R200C	probably benign	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aoc1l1	A	T	6: 48,952,090 (GRCm39)	Q5L	probably benign	Het
Apc	T	C	18: 34,451,618 (GRCm39)	L2804P	probably damaging	Het
Apob	C	A	12: 8,061,331 (GRCm39)	A3271E	probably damaging	Het
Asl	G	T	5: 130,047,157 (GRCm39)	A147E	probably damaging	Het
Atp1a1	A	G	3: 101,494,259 (GRCm39)	V447A	probably benign	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Bcl11b	T	C	12: 107,882,789 (GRCm39)	K509E	probably damaging	Het
Btnl1	T	C	17: 34,598,699 (GRCm39)	I105T	probably damaging	Het
Btnl10	A	G	11: 58,811,183 (GRCm39)	T169A	probably damaging	Het
C8b	T	C	4: 104,647,841 (GRCm39)	I278T	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd8b1	T	C	6: 71,309,459 (GRCm39)	V181A	probably benign	Het
Cdan1	A	T	2: 120,561,201 (GRCm39)	V189D	probably damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cmklr1	C	T	5: 113,752,930 (GRCm39)	V24M	probably benign	Het
Cntnap4	G	T	8: 113,500,371 (GRCm39)		probably null	Het
Col27a1	G	A	4: 63,211,743 (GRCm39)	G91R	probably damaging	Het
Col5a3	A	G	9: 20,726,192 (GRCm39)		probably benign	Het
Dcc	C	T	18: 71,682,069 (GRCm39)		probably null	Het
Deaf1	T	A	7: 140,890,884 (GRCm39)	T433S	possibly damaging	Het
Dnah8	T	A	17: 30,903,211 (GRCm39)	L950H	probably damaging	Het
Dnajc7	A	T	11: 100,481,803 (GRCm39)	Y228*	probably null	Het
Eno1b	T	C	18: 48,180,770 (GRCm39)	V316A	probably damaging	Het
Exoc4	T	C	6: 33,415,340 (GRCm39)	M404T	possibly damaging	Het
Fignl1	A	T	11: 11,751,268 (GRCm39)	C596S	probably benign	Het
Fn1	A	C	1: 71,663,337 (GRCm39)	Y1050*	probably null	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gba2	T	A	4: 43,568,092 (GRCm39)	S732C	probably damaging	Het
Gcnt4	C	A	13: 97,082,990 (GRCm39)	S95R	probably benign	Het
Gpr37	A	G	6: 25,669,623 (GRCm39)	V407A	probably benign	Het
Gria2	A	T	3: 80,599,799 (GRCm39)	M695K	probably damaging	Het
Hoxa9	T	C	6: 52,202,690 (GRCm39)	K132R	probably damaging	Het
Ifi213	T	A	1: 173,417,480 (GRCm39)	T311S	possibly damaging	Het
Itgb2	T	A	10: 77,385,884 (GRCm39)	N282K	probably damaging	Het
Kcnh8	A	T	17: 52,909,864 (GRCm39)	Q11L	probably benign	Het
Klk14	T	C	7: 43,343,781 (GRCm39)	C163R	probably damaging	Het
Klk1b3	T	A	7: 43,850,689 (GRCm39)	W74R	possibly damaging	Het
Krtap13-1	G	T	16: 88,526,142 (GRCm39)	C122F	possibly damaging	Het
Luzp2	T	C	7: 54,713,104 (GRCm39)		probably null	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,570,576 (GRCm39)	V1211E	probably benign	Het
Myb	T	A	10: 21,021,223 (GRCm39)	D402V	probably damaging	Het
Ncor2	G	A	5: 125,107,923 (GRCm39)	T1593I	probably damaging	Het
Ndst3	A	G	3: 123,465,198 (GRCm39)	I258T	probably benign	Het
Npy6r	C	A	18: 44,409,468 (GRCm39)	H296Q	probably damaging	Het
Olfml2b	T	A	1: 170,472,516 (GRCm39)	L9H	probably damaging	Het
Or10a3n	A	G	7: 108,493,324 (GRCm39)	C97R	probably damaging	Het
Or1a1b	A	T	11: 74,097,361 (GRCm39)	V227D	possibly damaging	Het
Or2w2	A	T	13: 21,757,744 (GRCm39)	V294D	probably damaging	Het
Or4k15	C	A	14: 50,364,530 (GRCm39)	N165K	probably benign	Het
Or5b119	C	T	19: 13,457,376 (GRCm39)	C62Y	probably damaging	Het
Or5b94	T	A	19: 12,652,318 (GRCm39)	Y250N	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Parg	G	A	14: 31,996,821 (GRCm39)	R304Q	probably damaging	Het
Pdf	T	G	8: 107,775,167 (GRCm39)	S22R	probably benign	Het
Phlpp2	A	T	8: 110,603,515 (GRCm39)	R60S	possibly damaging	Het
Piwil2	C	T	14: 70,639,646 (GRCm39)	E401K	probably benign	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Polr3a	T	C	14: 24,502,576 (GRCm39)		probably null	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Ptch2	G	A	4: 116,967,575 (GRCm39)	D748N	probably benign	Het
Rai14	A	C	15: 10,592,224 (GRCm39)	Y224D	probably damaging	Het
Rft1	A	G	14: 30,411,747 (GRCm39)	I432V	probably damaging	Het
Rictor	C	T	15: 6,816,625 (GRCm39)	A1299V	possibly damaging	Het
Sall2	A	G	14: 52,551,210 (GRCm39)	C662R	probably damaging	Het
Scn4b	A	G	9: 45,061,737 (GRCm39)	N208D	probably damaging	Het
Sdhb	G	A	4: 140,700,226 (GRCm39)	G109R	probably damaging	Het
Sec16a	A	G	2: 26,331,817 (GRCm39)	V66A	probably benign	Het
Sema4g	A	G	19: 44,990,051 (GRCm39)	Y710C	probably damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Shc4	T	A	2: 125,497,602 (GRCm39)	D369V	probably benign	Het
Siglech	T	C	7: 55,421,441 (GRCm39)	L285P	probably damaging	Het
Skint6	A	G	4: 112,931,273 (GRCm39)	M506T	probably benign	Het
Slco1a6	C	A	6: 142,047,378 (GRCm39)	C404F	probably benign	Het
Slfn14	T	A	11: 83,174,140 (GRCm39)	K284*	probably null	Het
Sox14	A	G	9: 99,757,715 (GRCm39)	I8T	probably damaging	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Tdpoz3	A	T	3: 93,734,330 (GRCm39)	H335L	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tnik	T	C	3: 28,596,249 (GRCm39)		probably null	Het
Tnpo2	T	C	8: 85,780,432 (GRCm39)	S720P	probably benign	Het
Tpst1	A	G	5: 130,130,547 (GRCm39)	K6E	probably damaging	Het
Trank1	T	A	9: 111,191,329 (GRCm39)	I446N	probably damaging	Het
Trmt44	A	T	5: 35,732,351 (GRCm39)	D13E	probably benign	Het
Ubr4	T	A	4: 139,126,890 (GRCm39)	V471E	possibly damaging	Het
Ubtd1	A	G	19: 42,022,030 (GRCm39)	T101A	probably benign	Het
Ugt3a1	A	T	15: 9,306,486 (GRCm39)	K212*	probably null	Het
Zbtb7c	C	T	18: 76,269,918 (GRCm39)	A2V	possibly damaging	Het
Zfp423	C	T	8: 88,414,709 (GRCm39)	G1182D	possibly damaging	Het
Zfp618	G	A	4: 63,051,216 (GRCm39)	V666M	probably damaging	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo
Zscan20	T	C	4: 128,481,899 (GRCm39)	T588A	probably benign	Het
Zscan25	G	A	5: 145,227,926 (GRCm39)	R530H	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
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

PCR Primer
(F):5'- GGACCTTTCCAGCTTTGGTG -3'
(R):5'- GCCATGGCCTATTTATAATTCCAAC -3'

Sequencing Primer
(F):5'- CAGCTTTGGTGGTGGGCC -3'
(R):5'- GGCCTATTTATAATTCCAACTGGTC -3'

Posted On

2015-09-25