Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Cfap52'

574181

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

Essential gene?

Possibly essential (E-score: 0.671) question?

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67924806-67965651 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67949633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 157 (N157K)

Ref Sequence

ENSEMBL: ENSMUSP00000021287 (fasta)

Gene Model

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

AlphaFold

Q5F201

Predicted Effect

probably benign
Transcript: ENSMUST00000021287
AA Change: N157K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: N157K

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: N157K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904
AA Change: N157K

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: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,404	L152Q	probably benign	Het
Abcg3	A	T	5: 104,966,774	N292K	probably damaging	Het
Adamts3	T	A	5: 89,707,450		probably null	Het
Adgrg7	T	C	16: 56,742,418	N519D	probably benign	Het
Adsl	A	G	15: 80,962,782	H263R	probably damaging	Het
Ak9	A	T	10: 41,423,004	D1567V	unknown	Het
Bscl2	T	C	19: 8,846,550	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,679,294	T873S	probably benign	Het
Cacna1c	T	C	6: 119,052,708		probably null	Het
Cast	G	T	13: 74,808,458	A18E	unknown	Het
Ccdc114	A	C	7: 45,942,765	Q323P	probably damaging	Het
Cd207	A	C	6: 83,677,848		probably benign	Het
Cd79b	A	G	11: 106,312,852	S130P	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chaf1b	G	T	16: 93,884,380		probably benign	Het
Cntn1	A	G	15: 92,317,989	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,461	V362I	probably benign	Het
Crem	A	G	18: 3,295,329	S80P	probably damaging	Het
Csnk1g3	C	T	18: 53,930,318	T267I	probably damaging	Het
Cyth1	A	T	11: 118,182,251	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,712,278	G594S	probably benign	Het
Enpp1	C	T	10: 24,645,282	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,465,635	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,917,559	V426L	probably benign	Het
Fes	A	G	7: 80,378,776		probably null	Het
Gm16486	T	C	8: 70,717,272	I1337T	probably benign	Het
Gmeb1	C	A	4: 132,225,774	L560F	probably damaging	Het
Hace1	T	C	10: 45,670,626	L452P	probably damaging	Het
Hecw2	T	A	1: 53,904,343	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il1r2	T	A	1: 40,123,210	C338S	probably damaging	Het
Kcnb1	T	C	2: 167,188,284	S114G	probably damaging	Het
Lce1c	A	T	3: 92,680,316	T17S	unknown	Het
Lhfpl4	C	A	6: 113,176,666	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,302,230	E988G	possibly damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Neurod1	T	A	2: 79,454,946	D31V	probably benign	Het
Neurod4	A	G	10: 130,271,058	C116R	probably damaging	Het
Nisch	A	G	14: 31,206,580	V28A	probably benign	Het
Olfr1174-ps	T	G	2: 88,311,428	M123L	probably benign	Het
Olfr1245	A	G	2: 89,575,105	V207A	probably benign	Het
Pabpc4l	A	T	3: 46,446,252	I319N	probably damaging	Het
Pabpc4l	T	A	3: 46,446,589	R207W	probably damaging	Het
Pcm1	G	A	8: 41,309,531	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452		probably benign	Het
Plxnc1	C	T	10: 94,871,005	A557T	probably benign	Het
Prkdc	T	A	16: 15,648,738	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,156,947	V259A	probably benign	Het
Psmd3	A	T	11: 98,685,640	T123S	probably benign	Het
Ptgr2	G	T	12: 84,292,329		probably benign	Het
Ptprr	A	G	10: 116,048,236	H66R	probably benign	Het
Rftn2	A	G	1: 55,194,242		probably null	Het
Rsph14	T	A	10: 75,029,796	E70V	possibly damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spag9	A	T	11: 94,097,689	T862S	probably benign	Het
Ssbp2	T	A	13: 91,690,883	D291E	probably benign	Het
Supt5	T	C	7: 28,323,772	K329E	probably damaging	Het
Syne2	G	T	12: 75,967,381	K3115N	probably damaging	Het
Tars	A	T	15: 11,392,009	L239*	probably null	Het
Tbxa2r	T	C	10: 81,332,791	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743	D265E	probably damaging	Het
Tril	T	C	6: 53,818,281	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,834,187	R204G	probably null	Het
Twnk	A	G	19: 45,011,780	D645G	probably benign	Het
Umodl1	A	T	17: 30,998,148	D1118V	probably damaging	Het
Unc119	T	C	11: 78,347,245	I83T	probably benign	Het
Unc80	T	C	1: 66,646,415	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,933,434	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,571,086	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,509,832	L123S	probably damaging	Het
Zfpm2	A	G	15: 41,102,990	E957G	possibly 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
R7580:Cfap52	UTSW	11	67946320	missense	probably damaging	1.00
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
R8998:Cfap52	UTSW	11	67927311	missense	probably damaging	1.00
R8999:Cfap52	UTSW	11	67927311	missense	probably damaging	1.00
R9074:Cfap52	UTSW	11	67931830	missense	probably benign	0.32
R9169:Cfap52	UTSW	11	67954034	missense	possibly damaging	0.67
R9394:Cfap52	UTSW	11	67925095	makesense	probably null
R9645:Cfap52	UTSW	11	67946353	missense	possibly damaging	0.68
R9683:Cfap52	UTSW	11	67931813	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGCTCAAGACATATTCCTCCC -3'
(R):5'- TGTGTTCGCTCACTAGTAACATTTC -3'

Sequencing Primer
(F):5'- GCTCAAGACATATTCCTCCCTCTCC -3'
(R):5'- GGGCATCAGATCCCTTTACAGATG -3'

Posted On

2019-09-13