Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:Cfap53'

710517

Institutional Source

Beutler Lab

Gene Symbol

Cfap53

Ensembl Gene

ENSMUSG00000035394

Gene Name

cilia and flagella associated protein 53

Synonyms

4933415I03Rik, Ccdc11

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.439) question?

Stock #

R9389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74283090-74359986 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 74299343 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114895] [ENSMUST00000176435] [ENSMUST00000177101]

AlphaFold

Q9D439

Predicted Effect

probably null
Transcript: ENSMUST00000114895

SMART Domains

Protein: ENSMUSP00000110545
Gene: ENSMUSG00000035394

Domain	Start	End	E-Value	Type
low complexity region	131	145	N/A	INTRINSIC
Pfam:TPH	160	495	1.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176435

Predicted Effect

probably benign
Transcript: ENSMUST00000177101

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	T	6: 41,033,145	G85D	probably benign	Het
4931440F15Rik	A	G	11: 29,825,107	S117P	probably damaging	Het
Abcb1b	G	A	5: 8,825,614	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,466,070	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,603,523	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,916,823	E828D	probably damaging	Het
Ces1f	A	T	8: 93,269,972		probably null	Het
Col6a4	T	C	9: 106,000,784	Y1998C	probably damaging	Het
Col9a2	A	G	4: 121,054,751	T675A	probably benign	Het
Dusp6	G	A	10: 99,263,977	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,185,491	M22R	probably benign	Het
Gm19965	A	G	1: 116,821,836	N416D		Het
Gpr162	A	G	6: 124,861,394	Y98H	probably damaging	Het
Igfals	G	A	17: 24,881,626	V564I	probably benign	Het
Il4	C	T	11: 53,614,010	R76H	probably damaging	Het
Itgb1	T	A	8: 128,707,156	N50K	probably benign	Het
Itpr3	A	T	17: 27,095,925	Y682F	possibly damaging	Het
Jak3	C	T	8: 71,684,052	P668S	probably damaging	Het
Malrd1	A	T	2: 15,703,156	N932I	unknown	Het
Mast4	C	A	13: 103,333,930	R88L	probably benign	Het
Mfsd11	T	G	11: 116,873,335	S381A	probably benign	Het
Mrm3	A	G	11: 76,250,030	D288G	probably damaging	Het
Myg1	G	T	15: 102,336,937	V198F	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Npy6r	T	C	18: 44,275,692	I60T	probably damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr1308	G	T	2: 111,960,527	P182H	probably damaging	Het
Olfr1341	A	T	4: 118,710,156	M250L	probably benign	Het
Olfr177	C	T	16: 58,872,613	C179Y	probably damaging	Het
Olfr530	T	C	7: 140,373,017	T198A	probably benign	Het
Olfr811	G	A	10: 129,801,671	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,986,525		probably benign	Het
Oxtr	C	A	6: 112,489,349	R150L	probably damaging	Het
Pappa	A	T	4: 65,180,888	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,908,079	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,302,300	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,779,315	L81Q	probably damaging	Het
Ptprf	C	A	4: 118,236,039	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,223	N322K	probably damaging	Het
Rev3l	T	A	10: 39,822,971	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,003,012	Y96C	probably damaging	Het
Runx1	C	T	16: 92,613,680	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,645,722	Q125P	probably damaging	Het
Spef2	A	T	15: 9,725,221	M150K	probably damaging	Het
Srcap	T	G	7: 127,542,283	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,355,627	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,229,193	D4427G	possibly damaging	Het
Tg	T	A	15: 66,689,324	M1065K	probably benign	Het
Tgm2	T	C	2: 158,117,896	T656A	probably benign	Het
Ttc37	A	G	13: 76,127,039	D403G	probably benign	Het
Ubr4	A	G	4: 139,425,924	K809E		Het
Vmn1r88	T	C	7: 13,178,619	S301P	probably damaging	Het
Wdr27	A	G	17: 14,891,718	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,465,820	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,997,908	I379N	probably damaging	Het

Other mutations in Cfap53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Cfap53	APN	18	74305540	nonsense	probably null
IGL00667:Cfap53	APN	18	74300192	missense	probably damaging	1.00
IGL00917:Cfap53	APN	18	74299296	missense	probably benign	0.08
R0009:Cfap53	UTSW	18	74299176	missense	probably benign	0.00
R0009:Cfap53	UTSW	18	74299176	missense	probably benign	0.00
R0035:Cfap53	UTSW	18	74300207	missense	probably damaging	1.00
R0035:Cfap53	UTSW	18	74300207	missense	probably damaging	1.00
R0048:Cfap53	UTSW	18	74299173	missense	probably benign	0.09
R0601:Cfap53	UTSW	18	74300150	missense	possibly damaging	0.94
R0939:Cfap53	UTSW	18	74305730	missense	probably null	0.72
R1166:Cfap53	UTSW	18	74300180	missense	possibly damaging	0.68
R1588:Cfap53	UTSW	18	74307373	missense	probably benign
R2105:Cfap53	UTSW	18	74283223	missense	possibly damaging	0.73
R2186:Cfap53	UTSW	18	74329505	splice site	probably null
R3723:Cfap53	UTSW	18	74359569	missense	probably benign	0.13
R3724:Cfap53	UTSW	18	74359569	missense	probably benign	0.13
R3904:Cfap53	UTSW	18	74307374	missense	probably damaging	0.99
R5156:Cfap53	UTSW	18	74359767	utr 3 prime	probably benign
R5262:Cfap53	UTSW	18	74329459	missense	probably benign	0.39
R5928:Cfap53	UTSW	18	74359740	missense	possibly damaging	0.90
R6405:Cfap53	UTSW	18	74359606	missense	probably damaging	1.00
R6653:Cfap53	UTSW	18	74300209	missense	probably damaging	0.97
R6675:Cfap53	UTSW	18	74307376	critical splice donor site	probably null
R7011:Cfap53	UTSW	18	74329493	missense	probably benign	0.13
R7397:Cfap53	UTSW	18	74283223	missense	possibly damaging	0.73
R8943:Cfap53	UTSW	18	74299182	missense	probably damaging	0.97
R9132:Cfap53	UTSW	18	74283201	missense	probably damaging	0.98
R9159:Cfap53	UTSW	18	74283201	missense	probably damaging	0.98
R9548:Cfap53	UTSW	18	74304969	missense	possibly damaging	0.59
R9679:Cfap53	UTSW	18	74359585	missense	possibly damaging	0.89
R9792:Cfap53	UTSW	18	74305670	missense	probably benign	0.44
R9793:Cfap53	UTSW	18	74305670	missense	probably benign	0.44
R9795:Cfap53	UTSW	18	74305670	missense	probably benign	0.44
Z1177:Cfap53	UTSW	18	74305552	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTCAGAGAGCCAAGCCTC -3'
(R):5'- GCCATGACCTTTATTTGACTTAGG -3'

Sequencing Primer
(F):5'- TCAGAGAGCTGAGCAACATC -3'
(R):5'- GTGAGCTCATGACATAGGAA -3'

Posted On

2022-04-18