Mutagenetix > Incidental Mutation

Incidental Mutation 'R9792:Cfap53'

734721

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: 0.443) question?

Stock #

R9792 (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 74438741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 306 (D306G)

Ref Sequence

ENSEMBL: ENSMUSP00000110545 (fasta)

Gene Model

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

AlphaFold

Q9D439

Predicted Effect

probably benign
Transcript: ENSMUST00000114895
AA Change: D306G

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110545
Gene: ENSMUSG00000035394
AA Change: D306G

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.0%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	T	C	13: 97,166,719 (GRCm39)	D99G	unknown	Het
Add2	A	T	6: 86,078,135 (GRCm39)		probably null	Het
Afap1l1	T	C	18: 61,874,822 (GRCm39)	D453G	possibly damaging	Het
Agrn	A	G	4: 156,261,129 (GRCm39)	V656A	probably benign	Het
Alpk3	T	C	7: 80,750,881 (GRCm39)		probably null	Het
Ano1	A	T	7: 144,175,434 (GRCm39)	W495R	probably damaging	Het
Apc	T	A	18: 34,447,628 (GRCm39)	L1508Q	probably damaging	Het
Bbs12	C	T	3: 37,374,224 (GRCm39)	T224I	possibly damaging	Het
Cald1	A	T	6: 34,723,071 (GRCm39)	M52L		Het
Calhm6	T	C	10: 34,002,544 (GRCm39)	I180V	probably damaging	Het
Ccdc9b	T	C	2: 118,587,784 (GRCm39)	S517G	unknown	Het
Cdk11b	T	A	4: 155,732,378 (GRCm39)	H510Q	unknown	Het
Cdk12	T	A	11: 98,102,051 (GRCm39)	D636E	unknown	Het
Cnnm1	T	C	19: 43,482,252 (GRCm39)		probably null	Het
Cnrip1	G	A	11: 17,004,812 (GRCm39)	A121T	probably benign	Het
Cntnap5c	A	T	17: 58,409,192 (GRCm39)	T477S	probably benign	Het
Cyp2c54	G	C	19: 40,034,525 (GRCm39)	P382A	probably damaging	Het
Cyp4a30b	A	G	4: 115,316,167 (GRCm39)	T298A	probably benign	Het
Dmkn	A	T	7: 30,464,845 (GRCm39)	N273Y	unknown	Het
Dsp	A	G	13: 38,379,494 (GRCm39)	T2080A	possibly damaging	Het
Ermard	T	C	17: 15,281,441 (GRCm39)	L617P	probably damaging	Het
Grik3	A	G	4: 125,526,315 (GRCm39)	T183A	probably damaging	Het
Gstt1	T	C	10: 75,634,391 (GRCm39)		probably benign	Het
Hao1	T	A	2: 134,372,552 (GRCm39)	Y152F	possibly damaging	Het
Hdac7	T	C	15: 97,698,671 (GRCm39)	T629A	possibly damaging	Het
Hmcn1	G	A	1: 150,608,689 (GRCm39)	P1498S	possibly damaging	Het
Iqcf3	T	A	9: 106,434,714 (GRCm39)	K41N	probably benign	Het
Lrriq3	T	C	3: 154,893,313 (GRCm39)	M338T	probably benign	Het
Ltbp2	A	T	12: 84,876,128 (GRCm39)	I493N	probably damaging	Het
Map1a	T	C	2: 121,121,304 (GRCm39)		probably null	Het
Mzf1	T	C	7: 12,786,131 (GRCm39)	T267A	probably benign	Het
N4bp2l2	A	G	5: 150,584,897 (GRCm39)	I19T	probably benign	Het
Ncoa2	G	T	1: 13,260,355 (GRCm39)	Q107K	possibly damaging	Het
Nin	A	T	12: 70,094,009 (GRCm39)	I605N		Het
Nr1h4	T	G	10: 89,314,651 (GRCm39)	T286P	probably benign	Het
Nsd2	A	G	5: 34,003,489 (GRCm39)	D213G	possibly damaging	Het
Nuggc	T	C	14: 65,847,345 (GRCm39)	S131P	probably damaging	Het
Or4a78	T	C	2: 89,497,811 (GRCm39)	I140V	probably benign	Het
Or4f14c	T	C	2: 111,941,330 (GRCm39)	H89R	probably benign	Het
Or52m1	G	A	7: 102,289,788 (GRCm39)	V112I	probably benign	Het
Or5b113	A	T	19: 13,342,514 (GRCm39)	H174L	probably damaging	Het
Or8h9	T	A	2: 86,789,119 (GRCm39)	I228F	probably damaging	Het
Otud7a	C	T	7: 63,378,845 (GRCm39)	R232W	probably damaging	Het
Pacsin3	C	A	2: 91,094,160 (GRCm39)	A363D	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Pcnx2	A	G	8: 126,534,820 (GRCm39)	F1270L	probably damaging	Het
Pds5a	T	C	5: 65,795,989 (GRCm39)	M634V	probably benign	Het
Pkd1	A	G	17: 24,800,172 (GRCm39)	T2978A	probably benign	Het
Pkhd1l1	T	C	15: 44,406,983 (GRCm39)	S2407P	probably benign	Het
Polr2i	T	C	7: 29,932,190 (GRCm39)	Y44H	probably damaging	Het
Ppip5k2	A	T	1: 97,671,822 (GRCm39)	Y489*	probably null	Het
Ppp3r1	C	A	11: 17,132,117 (GRCm39)	A5E	probably benign	Het
Pramel60	C	A	5: 95,339,810 (GRCm39)	H110N	probably damaging	Het
Rasgrp1	T	C	2: 117,118,429 (GRCm39)	D520G	probably benign	Het
Rex2	A	C	4: 147,142,039 (GRCm39)	N176H	probably damaging	Het
Rsl1d1	T	C	16: 11,017,300 (GRCm39)	N194S	possibly damaging	Het
Sidt2	A	G	9: 45,850,563 (GRCm39)	Y851H	probably damaging	Het
Slc5a8	T	C	10: 88,757,591 (GRCm39)	I527T	possibly damaging	Het
Slc6a7	C	A	18: 61,138,866 (GRCm39)	R214L	probably benign	Het
Stx7	T	C	10: 24,057,475 (GRCm39)	L167P	probably damaging	Het
Tas2r120	A	T	6: 132,634,528 (GRCm39)	K203N	possibly damaging	Het
Tbc1d22a	T	C	15: 86,119,839 (GRCm39)	L81P	probably damaging	Het
Tert	A	G	13: 73,792,442 (GRCm39)	E903G	probably benign	Het
Tpm4	A	G	8: 72,905,663 (GRCm39)	I248V	probably benign	Het
Trim42	A	G	9: 97,245,429 (GRCm39)	I457T	probably damaging	Het
Ttc23l	T	A	15: 10,537,731 (GRCm39)	I180F	probably benign	Het
Usp9y	T	C	Y: 1,364,679 (GRCm39)	M1045V	probably benign	Het
Vim	A	G	2: 13,579,598 (GRCm39)	D119G	probably benign	Het
Vmn1r82	A	T	7: 12,039,083 (GRCm39)	M119L	probably benign	Het
Vmn2r118	T	C	17: 55,899,496 (GRCm39)	T803A	probably damaging	Het
Vwa3a	C	A	7: 120,383,307 (GRCm39)	A636D	probably damaging	Het
Zbtb7a	G	A	10: 80,980,378 (GRCm39)	A191T	probably benign	Het
Zfp819	A	G	7: 43,261,519 (GRCm39)	H62R	possibly damaging	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
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
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'- AAAACGTGGTCTTACTTTGCTCAAC -3'
(R):5'- TCGTCTAGACACTGAGCTCG -3'

Sequencing Primer
(F):5'- GCTCAACCATGCTGATTTGTC -3'
(R):5'- TCGGCTCCTTGCACAATGAAAC -3'

Posted On

2022-11-14