Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03241:Cfap206'

414281

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap206

Ensembl Gene

ENSMUSG00000028294

Gene Name

cilia and flagella associated protein 206

Synonyms

1700003M02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

IGL03241

Quality Score

Status

Chromosome

Chromosomal Location

34688559-34730206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34711553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 448 (Y448C)

Ref Sequence

ENSEMBL: ENSMUSP00000103771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029971] [ENSMUST00000108136]

AlphaFold

Q6PE87

Predicted Effect

probably damaging
Transcript: ENSMUST00000029971
AA Change: Y448C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: Y448C

Domain	Start	End	E-Value	Type
Pfam:DUF3508	214	491	6.1e-108	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108136
AA Change: Y448C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: Y448C

Domain	Start	End	E-Value	Type
Pfam:DUF3508	213	493	3.8e-127	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135563

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,236,436 (GRCm39)	E1126V	possibly damaging	Het
Acnat1	A	G	4: 49,447,702 (GRCm39)	V275A	probably benign	Het
Adamts15	G	A	9: 30,815,781 (GRCm39)	P692S	probably damaging	Het
Aqp7	A	T	4: 41,045,270 (GRCm39)		probably benign	Het
Arhgap26	A	T	18: 39,362,970 (GRCm39)	I413F	probably damaging	Het
Cdc25a	T	C	9: 109,713,267 (GRCm39)		probably null	Het
Cdh18	C	T	15: 23,227,019 (GRCm39)	T160I	probably benign	Het
Clec4a4	T	C	6: 122,967,332 (GRCm39)	S3P	probably damaging	Het
Dhx38	A	T	8: 110,289,288 (GRCm39)	H37Q	possibly damaging	Het
F7	A	T	8: 13,078,779 (GRCm39)	E70V	probably damaging	Het
Nbeal1	A	T	1: 60,274,027 (GRCm39)	Q418H	possibly damaging	Het
Nbeal1	G	A	1: 60,274,028 (GRCm39)	E419K	probably benign	Het
Nebl	A	G	2: 17,397,975 (GRCm39)		probably null	Het
Or4k15b	T	A	14: 50,272,525 (GRCm39)	M112L	possibly damaging	Het
Pfkm	T	C	15: 98,021,061 (GRCm39)	V293A	probably benign	Het
Slc36a3	A	G	11: 55,015,934 (GRCm39)	S407P	possibly damaging	Het
Slc5a1	T	C	5: 33,290,749 (GRCm39)	V111A	probably benign	Het
St6galnac5	G	T	3: 152,552,223 (GRCm39)	Q115K	probably benign	Het
Tex56	G	T	13: 35,128,313 (GRCm39)	A177S	probably damaging	Het
Timmdc1	G	A	16: 38,331,071 (GRCm39)		probably benign	Het
Trim34b	T	C	7: 103,983,820 (GRCm39)		probably benign	Het
Trim75	A	T	8: 65,435,358 (GRCm39)	I364N	probably damaging	Het
Vmn1r27	T	A	6: 58,192,126 (GRCm39)	N293Y	probably benign	Het
Vmn2r88	A	G	14: 51,655,830 (GRCm39)	T689A	probably benign	Het
Vmn2r97	T	C	17: 19,148,438 (GRCm39)	V111A	probably benign	Het
Zfp114	C	T	7: 23,880,437 (GRCm39)	T261I	probably benign	Het
Zfp516	A	G	18: 83,005,645 (GRCm39)	T850A	probably benign	Het

Other mutations in Cfap206

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00797:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL00798:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL00826:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL00919:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01062:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01064:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01069:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01070:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01086:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01087:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01090:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01098:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01111:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01133:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01135:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01147:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01152:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01153:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01154:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01155:Cfap206	APN	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
IGL01289:Cfap206	APN	4	34,716,469 (GRCm39)	missense	probably null	0.98
IGL01845:Cfap206	APN	4	34,719,610 (GRCm39)	missense	possibly damaging	0.57
IGL02115:Cfap206	APN	4	34,722,623 (GRCm39)	missense	possibly damaging	0.54
IGL03405:Cfap206	APN	4	34,716,445 (GRCm39)	missense	possibly damaging	0.82
ANU05:Cfap206	UTSW	4	34,721,562 (GRCm39)	missense	probably damaging	1.00
BB001:Cfap206	UTSW	4	34,728,833 (GRCm39)	missense	probably benign	0.10
BB011:Cfap206	UTSW	4	34,728,833 (GRCm39)	missense	probably benign	0.10
R0012:Cfap206	UTSW	4	34,714,519 (GRCm39)	missense	possibly damaging	0.76
R0689:Cfap206	UTSW	4	34,722,668 (GRCm39)	missense	probably benign	0.23
R0730:Cfap206	UTSW	4	34,711,391 (GRCm39)	missense	probably benign
R1567:Cfap206	UTSW	4	34,716,490 (GRCm39)	missense	probably benign	0.01
R1694:Cfap206	UTSW	4	34,719,058 (GRCm39)	missense	probably damaging	1.00
R1706:Cfap206	UTSW	4	34,688,875 (GRCm39)	missense	probably damaging	1.00
R1837:Cfap206	UTSW	4	34,728,813 (GRCm39)	missense	probably damaging	1.00
R1909:Cfap206	UTSW	4	34,722,714 (GRCm39)	missense	probably benign
R2098:Cfap206	UTSW	4	34,719,053 (GRCm39)	nonsense	probably null
R2568:Cfap206	UTSW	4	34,711,566 (GRCm39)	nonsense	probably null
R3125:Cfap206	UTSW	4	34,716,310 (GRCm39)	missense	possibly damaging	0.48
R3784:Cfap206	UTSW	4	34,716,445 (GRCm39)	missense	probably damaging	0.99
R5249:Cfap206	UTSW	4	34,714,502 (GRCm39)	missense	probably benign
R5483:Cfap206	UTSW	4	34,711,404 (GRCm39)	missense	probably benign	0.39
R5569:Cfap206	UTSW	4	34,724,892 (GRCm39)	missense	probably damaging	1.00
R6247:Cfap206	UTSW	4	34,692,530 (GRCm39)	missense	probably benign
R6555:Cfap206	UTSW	4	34,719,049 (GRCm39)	missense	probably damaging	1.00
R6791:Cfap206	UTSW	4	34,711,414 (GRCm39)	missense	possibly damaging	0.76
R6865:Cfap206	UTSW	4	34,714,448 (GRCm39)	missense	possibly damaging	0.57
R7164:Cfap206	UTSW	4	34,719,656 (GRCm39)	missense	probably benign
R7814:Cfap206	UTSW	4	34,716,347 (GRCm39)	missense	probably benign	0.01
R7924:Cfap206	UTSW	4	34,728,833 (GRCm39)	missense	probably benign	0.10
R8092:Cfap206	UTSW	4	34,728,897 (GRCm39)	missense	possibly damaging	0.62
R8240:Cfap206	UTSW	4	34,728,902 (GRCm39)	start codon destroyed	probably null	1.00
R8323:Cfap206	UTSW	4	34,719,647 (GRCm39)	missense	probably benign	0.00
R8969:Cfap206	UTSW	4	34,692,522 (GRCm39)	missense	probably benign	0.00
R9144:Cfap206	UTSW	4	34,722,667 (GRCm39)	missense	possibly damaging	0.81
R9336:Cfap206	UTSW	4	34,716,494 (GRCm39)	missense	probably benign
Z1176:Cfap206	UTSW	4	34,719,661 (GRCm39)	missense	possibly damaging	0.87

Posted On

2016-08-02