Mutagenetix > Incidental Mutations

Incidental Mutation 'R5156:Cfap53'

396753

Institutional Source

Beutler Lab

Gene Symbol

Cfap53

Ensembl Gene

ENSMUSG00000035394

Gene Name

cilia and flagella associated protein 53

Synonyms

4933415I03Rik, Ccdc11

MMRRC Submission

042738-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R5156 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74283090-74359986 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to A at 74359767 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134908 (fasta)

Gene Model

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

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000177407

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,593,424		probably null	Het
4921513D11Rik	G	T	17: 79,628,209		probably benign	Het
Apeh	C	T	9: 108,094,287	A29T	probably damaging	Het
Arap2	A	T	5: 62,669,181	Y1013*	probably null	Het
Arhgef4	A	G	1: 34,723,274	E537G	unknown	Het
Asf1b	T	C	8: 83,955,911	F28S	probably damaging	Het
Cd46	T	A	1: 195,085,385	I123L	possibly damaging	Het
Cdca7	A	T	2: 72,479,026	T48S	probably damaging	Het
Clca3a2	T	A	3: 144,805,838	T599S	probably benign	Het
Csf1	T	A	3: 107,748,936	T148S	probably benign	Het
Dmbt1	T	C	7: 131,097,670		probably null	Het
Dmpk	A	G	7: 19,084,125	D44G	probably damaging	Het
Dnajb12	T	A	10: 59,892,960	N223K	probably damaging	Het
Dync1h1	T	A	12: 110,628,830	M1392K	probably benign	Het
Edrf1	C	T	7: 133,660,179	A867V	probably damaging	Het
Efemp2	T	A	19: 5,477,678	C94S	possibly damaging	Het
Epha8	C	T	4: 136,938,726	S373N	probably benign	Het
Foxk1	A	G	5: 142,448,833	D284G	possibly damaging	Het
Fzd10	C	A	5: 128,601,302	R29S	possibly damaging	Het
Gm13991	T	C	2: 116,528,184		noncoding transcript	Het
Gm6818	A	T	7: 38,402,047		noncoding transcript	Het
Hydin	T	A	8: 110,609,701	C5037S	probably benign	Het
Ikzf1	T	A	11: 11,769,448	M492K	probably damaging	Het
Krt20	G	T	11: 99,430,053	S394R	possibly damaging	Het
Lrrc71	T	A	3: 87,745,787	R107S	probably benign	Het
Mia2	A	G	12: 59,172,537	T436A	possibly damaging	Het
Muc19	T	A	15: 91,900,420		noncoding transcript	Het
Neu4	T	C	1: 94,024,455	V182A	probably damaging	Het
Notch2	T	G	3: 98,124,310	F1167V	possibly damaging	Het
Nrap	A	G	19: 56,371,845	M189T	possibly damaging	Het
Nt5m	A	T	11: 59,874,661	I172F	probably damaging	Het
Olfr1138	G	A	2: 87,737,775	P183L	possibly damaging	Het
Olfr1474	G	T	19: 13,471,673	K234N	probably damaging	Het
Olfr228	A	T	2: 86,483,018	C241*	probably null	Het
Plekha5	C	T	6: 140,426,528	T68M	probably damaging	Het
Ppef2	A	G	5: 92,244,602		probably null	Het
Ppp1r37	T	C	7: 19,561,975		probably benign	Het
Rfx4	T	C	10: 84,868,354	Y238H	probably damaging	Het
Sec13	G	A	6: 113,730,876	A161V	probably benign	Het
Serhl	G	A	15: 83,102,694		probably benign	Het
Slco4a1	T	C	2: 180,472,779	V588A	probably benign	Het
Slitrk3	T	C	3: 73,049,259	T727A	probably benign	Het
Sp100	T	A	1: 85,673,683	D241E	probably damaging	Het
Spata2	G	T	2: 167,483,574	H442N	probably damaging	Het
Speg	T	C	1: 75,428,087	V2588A	probably damaging	Het
Tnfsf12	A	G	11: 69,687,329	S141P	probably damaging	Het
Trank1	A	G	9: 111,390,694	I2166M	probably damaging	Het
Trim10	T	A	17: 36,877,056	V388E	probably damaging	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Vmn2r10	A	G	5: 108,995,600	V828A	probably benign	Het
Vmn2r75	T	A	7: 86,164,228	L455F	possibly damaging	Het
Vwa8	T	A	14: 78,984,226	S541T	probably benign	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
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
Z1177:Cfap53	UTSW	18	74305552	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGATGCAGATTGCCCACCAG -3'
(R):5'- GCAACCCTCTGTTACCAGAAGC -3'

Sequencing Primer
(F):5'- GATTGCCCACCAGCAGCAG -3'
(R):5'- GAACAAATTCATTTGAAGGAAG -3'

Posted On

2016-06-21