Mutagenetix > Incidental Mutation

Incidental Mutation 'R6653:Cfap53'

526537

Institutional Source

Beutler Lab

Gene Symbol

Cfap53

Ensembl Gene

ENSMUSG00000035394

Gene Name

cilia and flagella associated protein 53

Synonyms

4933415I03Rik, Ccdc11

MMRRC Submission

044774-MU

Accession Numbers

Essential gene?

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

Stock #

R6653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74416171-74493055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74433280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 122 (T122A)

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: T122A

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

SMART Domains

Protein: ENSMUSP00000110545
Gene: ENSMUSG00000035394
AA Change: T122A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122178

Predicted Effect

probably benign
Transcript: ENSMUST00000176435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176766

Predicted Effect

probably benign
Transcript: ENSMUST00000177101

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,945,229 (GRCm39)	L435R	probably benign	Het
Abcc2	T	A	19: 43,800,941 (GRCm39)	H627Q	probably benign	Het
Ankhd1	A	T	18: 36,733,836 (GRCm39)		probably null	Het
Ankrd50	T	A	3: 38,511,510 (GRCm39)	I286F	probably damaging	Het
Asb15	A	G	6: 24,562,632 (GRCm39)	N198S	probably benign	Het
B4galnt2	T	A	11: 95,782,747 (GRCm39)	M22L	probably benign	Het
Bcdin3d	T	C	15: 99,368,696 (GRCm39)	T168A	probably damaging	Het
Bmp1	A	T	14: 70,728,058 (GRCm39)	W624R	probably damaging	Het
Cdh4	C	T	2: 179,422,221 (GRCm39)	A115V	probably benign	Het
Chsy1	A	G	7: 65,759,941 (GRCm39)	K95E	probably benign	Het
Csde1	C	A	3: 102,960,184 (GRCm39)	P604T	probably damaging	Het
Cts7	A	T	13: 61,502,817 (GRCm39)	L237Q	probably damaging	Het
Cutal	C	T	2: 34,775,933 (GRCm39)	T88I	probably benign	Het
Dlg4	G	T	11: 69,914,779 (GRCm39)		probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Eif2b4	C	T	5: 31,349,551 (GRCm39)	E53K	possibly damaging	Het
Erp44	T	C	4: 48,205,130 (GRCm39)	I288V	probably null	Het
Fcamr	A	G	1: 130,740,939 (GRCm39)	T453A	possibly damaging	Het
Glb1l3	T	C	9: 26,770,884 (GRCm39)	T61A	probably benign	Het
Gpr26	T	C	7: 131,585,830 (GRCm39)	S267P	probably benign	Het
Heatr6	A	T	11: 83,650,191 (GRCm39)	T216S	probably benign	Het
Hephl1	C	T	9: 14,993,260 (GRCm39)	V525I	probably damaging	Het
Jak2	T	A	19: 29,266,110 (GRCm39)	I517N	probably benign	Het
Kbtbd4	T	A	2: 90,740,113 (GRCm39)	Y499*	probably null	Het
Kif1a	A	T	1: 93,005,420 (GRCm39)	I118N	probably damaging	Het
Klhdc7b	A	G	15: 89,271,292 (GRCm39)	S725G	probably benign	Het
Mfsd13a	T	C	19: 46,356,305 (GRCm39)	F137L	probably damaging	Het
Myo7a	T	A	7: 97,703,710 (GRCm39)	Y1977F	probably damaging	Het
Naip2	T	G	13: 100,298,352 (GRCm39)	K561N	probably benign	Het
Naip2	C	T	13: 100,288,644 (GRCm39)	V1194I	probably benign	Het
Nkx2-4	G	T	2: 146,925,860 (GRCm39)	A334E	possibly damaging	Het
Nlrp9c	T	A	7: 26,070,747 (GRCm39)	N945Y	probably damaging	Het
Or2z2	A	T	11: 58,346,394 (GRCm39)	I127N	probably damaging	Het
Or4e5	C	T	14: 52,728,250 (GRCm39)	R57Q	probably benign	Het
Or8g20	A	G	9: 39,396,048 (GRCm39)	V164A	probably benign	Het
Pcdha7	A	G	18: 37,107,539 (GRCm39)	Q188R	probably benign	Het
Phf3	A	T	1: 30,844,104 (GRCm39)	S1618R	possibly damaging	Het
Phip	C	A	9: 82,782,794 (GRCm39)	E884*	probably null	Het
Plxnc1	C	A	10: 94,779,738 (GRCm39)	V235L	probably damaging	Het
Qser1	A	G	2: 104,610,605 (GRCm39)	V1226A	possibly damaging	Het
Ros1	G	T	10: 52,018,299 (GRCm39)	S786R	probably damaging	Het
Rps6ka5	A	G	12: 100,517,795 (GRCm39)	S769P	probably damaging	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Specc1	T	G	11: 62,037,244 (GRCm39)	S813A	probably damaging	Het
Spry1	T	C	3: 37,696,871 (GRCm39)	I38T	probably damaging	Het
Tagap	T	C	17: 8,152,546 (GRCm39)	V577A	probably benign	Het
Tmem44	T	C	16: 30,356,369 (GRCm39)	D110G	probably damaging	Het
Ubn2	A	G	6: 38,411,397 (GRCm39)	E97G	possibly damaging	Het
Ubr4	C	A	4: 139,200,935 (GRCm39)	H4706Q	possibly damaging	Het
Usp25	T	A	16: 76,856,176 (GRCm39)	N256K	probably benign	Het
Vmn2r112	T	A	17: 22,820,160 (GRCm39)	L11Q	probably null	Het
Wnt2b	C	A	3: 104,860,502 (GRCm39)	R135L	probably damaging	Het
Zfp60	T	C	7: 27,448,151 (GRCm39)	F273S	probably benign	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
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
R8943:Cfap53	UTSW	18	74,432,253 (GRCm39)	missense	probably damaging	0.97
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'- TAGTGAGCGGCCTTTCATTTC -3'
(R):5'- CTAACCAAGGCTGTTTTGTTGTTC -3'

Sequencing Primer
(F):5'- GTGAGCGGCCTTTCATTTCTTAAAAC -3'
(R):5'- CTCTCCGTCATATTCTACATCACAAG -3'

Posted On

2018-07-23