Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01289:Cfap206'

72868

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 #

IGL01289

Quality Score

Status

Chromosome

Chromosomal Location

34688559-34730206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34716469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 332 (S332I)

Ref Sequence

ENSEMBL: ENSMUSP00000103771 (fasta)

Gene Model

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

AlphaFold

Q6PE87

Predicted Effect

probably null
Transcript: ENSMUST00000029971
AA Change: S332I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: S332I

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

Predicted Effect

probably null
Transcript: ENSMUST00000108136
AA Change: S332I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: S332I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135563

Predicted Effect

probably benign
Transcript: ENSMUST00000137514

Predicted Effect

probably benign
Transcript: ENSMUST00000162495

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	A	7: 130,740,350 (GRCm39)	M289L	probably benign	Het
Actg2	A	T	6: 83,500,157 (GRCm39)	M38K	probably damaging	Het
Atp8a2	G	A	14: 59,928,910 (GRCm39)	A1048V	probably benign	Het
Cables1	T	C	18: 12,077,621 (GRCm39)	V583A	probably damaging	Het
Ccng2	A	G	5: 93,421,276 (GRCm39)	K262R	probably null	Het
Dscam	A	T	16: 96,445,082 (GRCm39)	Y1536*	probably null	Het
Fam136b-ps	T	A	15: 31,277,010 (GRCm39)		probably benign	Het
Fga	A	G	3: 82,938,552 (GRCm39)	Y309C	possibly damaging	Het
Fgd4	A	T	16: 16,302,167 (GRCm39)	N129K	probably damaging	Het
Gbp8	G	A	5: 105,165,735 (GRCm39)	A306V	probably benign	Het
Hecw1	T	C	13: 14,438,719 (GRCm39)	Y888C	probably damaging	Het
Herc6	G	A	6: 57,575,608 (GRCm39)	G210R	probably damaging	Het
Ints7	G	A	1: 191,347,890 (GRCm39)	R754H	probably benign	Het
Itga1	T	C	13: 115,122,762 (GRCm39)	I731M	possibly damaging	Het
Itpr2	T	A	6: 146,014,033 (GRCm39)	K2588*	probably null	Het
Itpr3	T	A	17: 27,318,739 (GRCm39)	M965K	probably damaging	Het
Kif22	A	G	7: 126,632,645 (GRCm39)	V247A	probably damaging	Het
Lrrc17	T	C	5: 21,765,899 (GRCm39)	F127S	probably damaging	Het
Lrriq4	T	A	3: 30,704,542 (GRCm39)	L190Q	probably damaging	Het
Mcee	T	A	7: 64,050,066 (GRCm39)	F66I	probably damaging	Het
Med23	T	C	10: 24,778,019 (GRCm39)	F789S	probably damaging	Het
Nmd3	T	G	3: 69,631,620 (GRCm39)	S25R	possibly damaging	Het
Npy5r	T	A	8: 67,134,518 (GRCm39)	N92Y	possibly damaging	Het
Or4a69	A	G	2: 89,313,191 (GRCm39)	M96T	probably benign	Het
Rnf224	G	T	2: 25,126,259 (GRCm39)	D31E	possibly damaging	Het
Timd2	T	C	11: 46,570,499 (GRCm39)	E192G	probably benign	Het
Ttll13	T	A	7: 79,910,187 (GRCm39)	C777S	probably benign	Het
Tubgcp3	A	G	8: 12,689,625 (GRCm39)	L547P	probably damaging	Het
Usp47	G	T	7: 111,662,565 (GRCm39)	V236F	probably damaging	Het
Xirp2	A	T	2: 67,343,525 (GRCm39)	N1922I	probably damaging	Het
Zdhhc24	G	T	19: 4,928,850 (GRCm39)	W25L	probably damaging	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
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

2013-10-07