Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02887:Cfap52'

363840

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap52

Ensembl Gene

ENSMUSG00000020904

Gene Name

cilia and flagella associated protein 52

Synonyms

Wdr16, 4933417B11Rik, 1700019F09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.772) question?

Stock #

IGL02887

Quality Score

Status

Chromosome

Chromosomal Location

67815632-67856477 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67844341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 125 (Y125H)

Ref Sequence

ENSEMBL: ENSMUSP00000021287 (fasta)

Gene Model

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

AlphaFold

Q5F201

Predicted Effect

probably damaging
Transcript: ENSMUST00000021287
AA Change: Y125H

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

SMART Domains

Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: Y125H

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 damaging
Transcript: ENSMUST00000126766
AA Change: Y125H

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904
AA Change: Y125H

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

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,166,168 (GRCm39)	Y69H	probably damaging	Het
Afap1l2	A	T	19: 56,908,995 (GRCm39)	S310R	probably damaging	Het
Aldh7a1	A	G	18: 56,675,288 (GRCm39)		probably benign	Het
Anxa8	T	A	14: 33,818,481 (GRCm39)		probably null	Het
Ap1ar	T	C	3: 127,602,192 (GRCm39)	E282G	probably damaging	Het
Arl6ip6	T	G	2: 53,092,939 (GRCm39)	S155A	probably benign	Het
Armc9	T	C	1: 86,092,557 (GRCm39)	F107S	probably damaging	Het
Ash1l	C	A	3: 88,891,488 (GRCm39)	D1122E	probably benign	Het
Atp2b4	T	A	1: 133,656,512 (GRCm39)	I713F	probably damaging	Het
BC005624	A	C	2: 30,863,317 (GRCm39)		probably benign	Het
Calcrl	T	C	2: 84,169,586 (GRCm39)	D365G	probably benign	Het
Ccdc110	A	G	8: 46,396,221 (GRCm39)	N704S	probably benign	Het
Ccr10	G	T	11: 101,065,492 (GRCm39)	L13I	probably benign	Het
Cnr2	C	A	4: 135,644,936 (GRCm39)	T338K	possibly damaging	Het
Cntn2	T	A	1: 132,444,308 (GRCm39)	D935V	probably damaging	Het
Cog7	T	C	7: 121,543,067 (GRCm39)	K448R	possibly damaging	Het
Csnk1g2	G	A	10: 80,474,369 (GRCm39)	D197N	probably damaging	Het
Cyp2e1	T	A	7: 140,343,824 (GRCm39)	S21T	probably damaging	Het
Dcaf11	T	C	14: 55,801,592 (GRCm39)	F187L	probably damaging	Het
Dmd	T	A	X: 82,922,110 (GRCm39)	F1460Y	probably benign	Het
Dnah11	G	A	12: 117,874,775 (GRCm39)	A4030V	probably damaging	Het
Dnah7a	A	G	1: 53,561,519 (GRCm39)	V2046A	possibly damaging	Het
Dnajc6	T	C	4: 101,496,497 (GRCm39)	I820T	probably damaging	Het
Dsel	T	C	1: 111,788,462 (GRCm39)	D691G	possibly damaging	Het
Fbp1	T	A	13: 63,016,894 (GRCm39)	M203L	probably benign	Het
Fndc1	T	C	17: 7,992,470 (GRCm39)	T409A	unknown	Het
Golgb1	T	G	16: 36,746,211 (GRCm39)	L2930R	probably damaging	Het
Htr2a	A	G	14: 74,882,583 (GRCm39)	T190A	probably benign	Het
Klra4	C	T	6: 130,021,033 (GRCm39)	C254Y	probably damaging	Het
Large1	A	T	8: 73,858,667 (GRCm39)	V67E	probably benign	Het
Lins1	T	C	7: 66,363,931 (GRCm39)	S609P	probably damaging	Het
Magi3	T	C	3: 104,002,473 (GRCm39)	E156G	probably damaging	Het
Mdh1b	A	G	1: 63,754,523 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,748,037 (GRCm39)	D276G	probably benign	Het
Myh9	T	A	15: 77,680,220 (GRCm39)	K185*	probably null	Het
Myof	T	C	19: 37,909,227 (GRCm39)		probably null	Het
Naip2	T	G	13: 100,298,020 (GRCm39)	Y672S	possibly damaging	Het
Nbeal1	A	G	1: 60,326,603 (GRCm39)		probably benign	Het
Nbeal2	T	A	9: 110,457,344 (GRCm39)	H2273L	probably damaging	Het
Neb	T	C	2: 52,090,733 (GRCm39)	K1346E	possibly damaging	Het
Nfatc2	T	C	2: 168,346,370 (GRCm39)	D908G	probably damaging	Het
Nlgn2	T	C	11: 69,718,080 (GRCm39)	N375S	probably benign	Het
Nova1	G	T	12: 46,767,505 (GRCm39)	Q139K	unknown	Het
Opa3	A	T	7: 18,962,507 (GRCm39)	Q47L	probably damaging	Het
Or10g7	T	A	9: 39,905,109 (GRCm39)	M1K	probably null	Het
Or2t47	A	G	11: 58,442,987 (GRCm39)	L26P	probably damaging	Het
Or6c205	T	A	10: 129,086,794 (GRCm39)	Y130*	probably null	Het
Pacs1	A	T	19: 5,185,138 (GRCm39)		probably benign	Het
Pappa2	T	A	1: 158,609,829 (GRCm39)	H1544L	probably damaging	Het
Pax8	A	G	2: 24,334,627 (GRCm39)	S48P	probably damaging	Het
Pdilt	T	C	7: 119,097,272 (GRCm39)	N70S	possibly damaging	Het
Poldip3	T	C	15: 83,013,469 (GRCm39)		probably benign	Het
Ppp6r1	T	A	7: 4,645,211 (GRCm39)	I80F	probably damaging	Het
Pycr2	T	A	1: 180,732,304 (GRCm39)		probably null	Het
Rapgef2	C	T	3: 78,976,187 (GRCm39)		probably benign	Het
Rbm44	T	A	1: 91,080,902 (GRCm39)	D363E	probably damaging	Het
Rnf213	A	T	11: 119,318,336 (GRCm39)	I1046F	probably damaging	Het
Ryr2	A	G	13: 11,606,155 (GRCm39)	S4476P	probably damaging	Het
Scara5	G	A	14: 66,000,278 (GRCm39)	D483N	unknown	Het
Scmh1	T	A	4: 120,325,586 (GRCm39)	F101Y	probably damaging	Het
Sgo2a	T	A	1: 58,055,511 (GRCm39)	V565E	probably damaging	Het
Simc1	T	C	13: 54,673,071 (GRCm39)	M473T	probably benign	Het
Skint6	T	A	4: 113,095,381 (GRCm39)	R93*	probably null	Het
Skint7	T	C	4: 111,839,375 (GRCm39)	V223A	possibly damaging	Het
Slc25a2	T	C	18: 37,770,939 (GRCm39)	I197V	probably benign	Het
Slit2	A	G	5: 48,374,816 (GRCm39)	T361A	probably benign	Het
Sugp1	G	A	8: 70,522,776 (GRCm39)	G492D	probably damaging	Het
Svep1	C	T	4: 58,145,301 (GRCm39)	G388D	probably damaging	Het
Tbpl2	G	T	2: 23,983,888 (GRCm39)	A183E	probably damaging	Het
Tcerg1l	G	T	7: 137,831,619 (GRCm39)	P453T	probably damaging	Het
Tdpoz2	T	C	3: 93,559,046 (GRCm39)	T309A	probably benign	Het
Thbs4	T	A	13: 92,927,306 (GRCm39)	Y61F	probably benign	Het
Tmem117	C	A	15: 94,992,656 (GRCm39)	P439T	probably damaging	Het
Tmem151a	A	G	19: 5,132,993 (GRCm39)	V71A	probably benign	Het
Tmem268	G	T	4: 63,486,691 (GRCm39)		probably benign	Het
Tmem43	T	A	6: 91,454,356 (GRCm39)	Y48N	possibly damaging	Het
Tmigd1	T	C	11: 76,804,812 (GRCm39)	V217A	probably benign	Het
Tmprss11g	A	T	5: 86,645,188 (GRCm39)		probably benign	Het
Tsn	T	C	1: 118,237,551 (GRCm39)	I38V	probably benign	Het
Ttc41	A	T	10: 86,569,518 (GRCm39)	Y632F	probably damaging	Het
Vmn2r117	C	T	17: 23,694,552 (GRCm39)		probably benign	Het
Vmn2r12	A	T	5: 109,238,351 (GRCm39)	I463N	probably benign	Het
Wdsub1	T	A	2: 59,683,176 (GRCm39)	N466I	probably damaging	Het
Zdhhc21	A	T	4: 82,762,427 (GRCm39)	I56N	probably benign	Het
Zfand4	A	G	6: 116,250,617 (GRCm39)	T16A	possibly damaging	Het
Zmym4	T	C	4: 126,842,268 (GRCm39)	E15G	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
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
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

Posted On

2015-12-18