Mutagenetix > Incidental Mutation

Incidental Mutation 'R8943:Cfap53'

681126

Institutional Source

Beutler Lab

Gene Symbol

Cfap53

Ensembl Gene

ENSMUSG00000035394

Gene Name

cilia and flagella associated protein 53

Synonyms

4933415I03Rik, Ccdc11

MMRRC Submission

068782-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.443) question?

Stock #

R8943 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74416171-74493055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74432253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 47 (Y47C)

Ref Sequence

ENSEMBL: ENSMUSP00000110545 (fasta)

Gene Model

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

AlphaFold

Q9D439

Predicted Effect

probably damaging
Transcript: ENSMUST00000114895
AA Change: Y47C

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110545
Gene: ENSMUSG00000035394
AA Change: Y47C

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (50/51)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,275,667 (GRCm39)	S457P	probably damaging	Het
Aak1	A	G	6: 86,964,234 (GRCm39)	N945S	unknown	Het
Actr1a	C	A	19: 46,369,438 (GRCm39)	R192L	possibly damaging	Het
Adgrl2	T	A	3: 148,534,119 (GRCm39)	N1036I	probably damaging	Het
Ak5	A	G	3: 152,361,511 (GRCm39)	V137A	probably damaging	Het
Aldh1a2	T	C	9: 71,169,055 (GRCm39)	V179A	probably damaging	Het
Ap2b1	A	T	11: 83,237,579 (GRCm39)	I548F	probably damaging	Het
Arhgef10l	A	G	4: 140,292,550 (GRCm39)	Y352H	probably damaging	Het
Atad5	C	T	11: 79,986,524 (GRCm39)	T537M	possibly damaging	Het
Atoh7	A	G	10: 62,935,938 (GRCm39)	K2E	possibly damaging	Het
BC061237	A	G	14: 44,741,658 (GRCm39)	I134V	probably benign	Het
Cadm1	T	C	9: 47,701,136 (GRCm39)	I141T	probably damaging	Het
Capn10	T	C	1: 92,871,454 (GRCm39)	S351P	probably damaging	Het
Cct6b	T	C	11: 82,654,959 (GRCm39)		probably benign	Het
Cd19	T	C	7: 126,011,330 (GRCm39)	T284A	probably benign	Het
Cldn18	T	C	9: 99,578,162 (GRCm39)	M194V	probably benign	Het
Dgkb	T	A	12: 38,652,777 (GRCm39)	Y721N	probably damaging	Het
Dmbt1	A	G	7: 130,721,372 (GRCm39)	Q1880R	possibly damaging	Het
Dock2	T	C	11: 34,599,646 (GRCm39)	N311S	possibly damaging	Het
Dpysl5	G	T	5: 30,935,375 (GRCm39)	M159I	probably benign	Het
Eif2b3	G	A	4: 116,901,778 (GRCm39)	G147E	probably damaging	Het
Fam193a	A	G	5: 34,597,796 (GRCm39)	D531G	probably benign	Het
Fndc3b	T	C	3: 27,555,329 (GRCm39)		probably benign	Het
Foxe3	C	A	4: 114,782,523 (GRCm39)	A230S	unknown	Het
Gm5591	A	T	7: 38,219,727 (GRCm39)	V382E	probably benign	Het
Gm7995	A	T	14: 42,132,228 (GRCm39)	N21I	probably damaging	Het
Ipo8	G	A	6: 148,676,547 (GRCm39)	P981S	probably benign	Het
Kcnh8	A	G	17: 53,104,486 (GRCm39)	D161G	probably benign	Het
Krt71	A	G	15: 101,645,180 (GRCm39)	I377T	possibly damaging	Het
Krt75	A	T	15: 101,476,767 (GRCm39)	M374K	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lpcat1	A	G	13: 73,662,029 (GRCm39)	T409A	probably benign	Het
Lrch1	A	T	14: 75,032,808 (GRCm39)	I514K	probably benign	Het
Mc4r	A	C	18: 66,993,110 (GRCm39)	M1R	probably null	Het
Mthfd1l	A	T	10: 3,978,466 (GRCm39)	H442L	probably damaging	Het
Or5d38	T	A	2: 87,954,718 (GRCm39)	I204F	probably damaging	Het
Pdcd1lg2	T	C	19: 29,423,553 (GRCm39)	M199T	probably benign	Het
Pigg	G	A	5: 108,484,066 (GRCm39)	V438M	probably damaging	Het
Pira12	T	C	7: 3,898,365 (GRCm39)	E319G	probably benign	Het
Ppfibp1	T	A	6: 146,920,681 (GRCm39)		probably null	Het
Rbm15	T	A	3: 107,239,372 (GRCm39)	Y342F	possibly damaging	Het
Rhbdl1	A	T	17: 26,054,116 (GRCm39)	V278E	probably damaging	Het
Ryr3	T	C	2: 112,465,669 (GRCm39)	N4781S	probably damaging	Het
Scn7a	A	T	2: 66,525,206 (GRCm39)		silent	Het
Sfswap	A	G	5: 129,581,168 (GRCm39)	R114G	probably damaging	Het
Sohlh2	C	A	3: 55,104,282 (GRCm39)	A258D	possibly damaging	Het
Sstr4	T	A	2: 148,237,782 (GRCm39)	V131D	possibly damaging	Het
Tenm2	T	C	11: 36,834,861 (GRCm39)	T45A	probably damaging	Het
Tmem131l	A	T	3: 83,831,479 (GRCm39)	F818I	probably damaging	Het
Trappc6b	A	G	12: 59,097,149 (GRCm39)	F58L	probably damaging	Het
Vmn1r229	A	T	17: 21,035,418 (GRCm39)	H221L	possibly damaging	Het
Vmn1r33	T	A	6: 66,588,783 (GRCm39)	Y257F	probably damaging	Het
Wdfy3	T	C	5: 101,993,231 (GRCm39)		probably benign	Het
Zfp446	C	T	7: 12,713,564 (GRCm39)	Q177*	probably null	Het
Zup1	A	G	10: 33,795,301 (GRCm39)	*552Q	probably null	Het

Other mutations in Cfap53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Cfap53	APN	18	74,438,611 (GRCm39)	nonsense	probably null
IGL00667:Cfap53	APN	18	74,433,263 (GRCm39)	missense	probably damaging	1.00
IGL00917:Cfap53	APN	18	74,432,367 (GRCm39)	missense	probably benign	0.08
R0009:Cfap53	UTSW	18	74,432,247 (GRCm39)	missense	probably benign	0.00
R0009:Cfap53	UTSW	18	74,432,247 (GRCm39)	missense	probably benign	0.00
R0035:Cfap53	UTSW	18	74,433,278 (GRCm39)	missense	probably damaging	1.00
R0035:Cfap53	UTSW	18	74,433,278 (GRCm39)	missense	probably damaging	1.00
R0048:Cfap53	UTSW	18	74,432,244 (GRCm39)	missense	probably benign	0.09
R0601:Cfap53	UTSW	18	74,433,221 (GRCm39)	missense	possibly damaging	0.94
R0939:Cfap53	UTSW	18	74,438,801 (GRCm39)	missense	probably null	0.72
R1166:Cfap53	UTSW	18	74,433,251 (GRCm39)	missense	possibly damaging	0.68
R1588:Cfap53	UTSW	18	74,440,444 (GRCm39)	missense	probably benign
R2105:Cfap53	UTSW	18	74,416,294 (GRCm39)	missense	possibly damaging	0.73
R2186:Cfap53	UTSW	18	74,462,576 (GRCm39)	splice site	probably null
R3723:Cfap53	UTSW	18	74,492,640 (GRCm39)	missense	probably benign	0.13
R3724:Cfap53	UTSW	18	74,492,640 (GRCm39)	missense	probably benign	0.13
R3904:Cfap53	UTSW	18	74,440,445 (GRCm39)	missense	probably damaging	0.99
R5156:Cfap53	UTSW	18	74,492,838 (GRCm39)	utr 3 prime	probably benign
R5262:Cfap53	UTSW	18	74,462,530 (GRCm39)	missense	probably benign	0.39
R5928:Cfap53	UTSW	18	74,492,811 (GRCm39)	missense	possibly damaging	0.90
R6405:Cfap53	UTSW	18	74,492,677 (GRCm39)	missense	probably damaging	1.00
R6653:Cfap53	UTSW	18	74,433,280 (GRCm39)	missense	probably damaging	0.97
R6675:Cfap53	UTSW	18	74,440,447 (GRCm39)	critical splice donor site	probably null
R7011:Cfap53	UTSW	18	74,462,564 (GRCm39)	missense	probably benign	0.13
R7397:Cfap53	UTSW	18	74,416,294 (GRCm39)	missense	possibly damaging	0.73
R9132:Cfap53	UTSW	18	74,416,272 (GRCm39)	missense	probably damaging	0.98
R9159:Cfap53	UTSW	18	74,416,272 (GRCm39)	missense	probably damaging	0.98
R9389:Cfap53	UTSW	18	74,432,414 (GRCm39)	critical splice donor site	probably null
R9548:Cfap53	UTSW	18	74,438,040 (GRCm39)	missense	possibly damaging	0.59
R9679:Cfap53	UTSW	18	74,492,656 (GRCm39)	missense	possibly damaging	0.89
R9792:Cfap53	UTSW	18	74,438,741 (GRCm39)	missense	probably benign	0.44
R9793:Cfap53	UTSW	18	74,438,741 (GRCm39)	missense	probably benign	0.44
R9795:Cfap53	UTSW	18	74,438,741 (GRCm39)	missense	probably benign	0.44
Z1177:Cfap53	UTSW	18	74,438,623 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGATCTTTTGGTGGACTCCAAC -3'
(R):5'- GTATGTGAGCCTTACTTATTGCGTC -3'

Sequencing Primer
(F):5'- TGGTGGACTCCAACACATATATATG -3'
(R):5'- CTCTCTTCAGTATTGATGACAAAGCC -3'

Posted On

2021-08-31