Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00826:Cfap206'

277998

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 #

IGL00826

Quality Score

Status

Chromosome

Chromosomal Location

34688559-34730206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34721562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 162 (S162N)

Ref Sequence

ENSEMBL: ENSMUSP00000116947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029971] [ENSMUST00000108136] [ENSMUST00000137514] [ENSMUST00000162495]

AlphaFold

Q6PE87

Predicted Effect

probably damaging
Transcript: ENSMUST00000029971
AA Change: S162N

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

SMART Domains

Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: S162N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108136
AA Change: S162N

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

SMART Domains

Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: S162N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135563

Predicted Effect

probably damaging
Transcript: ENSMUST00000137514
AA Change: S162N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160209

Predicted Effect

probably benign
Transcript: ENSMUST00000162495

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
Aars1	T	G	8: 111,766,932 (GRCm39)	S105A	probably damaging	Het
Adamtsl1	C	T	4: 86,075,041 (GRCm39)	P136L	probably damaging	Het
Akap13	C	A	7: 75,327,195 (GRCm39)	N376K	probably damaging	Het
Casp2	T	A	6: 42,246,219 (GRCm39)	Y192*	probably null	Het
Cyp2c68	A	G	19: 39,727,949 (GRCm39)	Y68H	possibly damaging	Het
Cyp2j9	A	T	4: 96,474,167 (GRCm39)	I91K	possibly damaging	Het
Diablo	T	C	5: 123,650,751 (GRCm39)	I179M	probably benign	Het
Dnah9	C	T	11: 65,880,768 (GRCm39)	V2610M	probably damaging	Het
Dsc2	C	T	18: 20,168,372 (GRCm39)	A696T	probably damaging	Het
Eaf2	A	T	16: 36,621,038 (GRCm39)	M218K	probably benign	Het
Emc9	G	T	14: 55,822,377 (GRCm39)	L64I	possibly damaging	Het
Epb41l2	T	C	10: 25,317,620 (GRCm39)	S46P	probably benign	Het
Galnt7	A	T	8: 57,993,105 (GRCm39)	Y405*	probably null	Het
Gnl3	A	G	14: 30,734,753 (GRCm39)		probably benign	Het
Map1a	A	G	2: 121,132,757 (GRCm39)	Q1191R	possibly damaging	Het
Map2k2	G	A	10: 80,954,052 (GRCm39)	V173I	probably benign	Het
Nbeal2	A	G	9: 110,455,971 (GRCm39)	V2408A	probably benign	Het
Npepps	T	C	11: 97,126,884 (GRCm39)		probably benign	Het
Osbpl8	A	T	10: 111,108,181 (GRCm39)		probably benign	Het
Phf12	G	T	11: 77,906,332 (GRCm39)	R282L	probably damaging	Het
Phf21a	T	G	2: 92,174,881 (GRCm39)		probably benign	Het
Plin2	T	C	4: 86,582,683 (GRCm39)	N98D	possibly damaging	Het
Prl7a1	A	G	13: 27,824,778 (GRCm39)	V19A	probably damaging	Het
Slfn10-ps	T	C	11: 82,926,085 (GRCm39)		noncoding transcript	Het
Spag11b	T	G	8: 19,191,423 (GRCm39)	V33G	possibly damaging	Het
Trappc13	A	T	13: 104,281,016 (GRCm39)	S349T	probably benign	Het
Trim34a	T	C	7: 103,910,140 (GRCm39)		probably null	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
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
IGL03241:Cfap206	APN	4	34,711,553 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16