Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01154:Cfap206'

278227

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?

Possibly non essential (E-score: 0.307) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

34688559-34730206 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34721562 bp (GRCm38)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,281,094	F767V	probably benign	Het
A2m	C	A	6: 121,673,542	S1203*	probably null	Het
Abcc3	T	C	11: 94,359,232		probably benign	Het
Adamts13	T	C	2: 27,006,194	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,520,373	D51G	probably damaging	Het
Apc2	A	G	10: 80,313,069	E1319G	possibly damaging	Het
Arap3	A	T	18: 37,996,734	S125T	probably benign	Het
Atp2b1	T	A	10: 98,996,888	V417E	probably damaging	Het
Bpifa1	T	A	2: 154,144,000	D78E	probably benign	Het
Catsperb	C	A	12: 101,625,681	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,723,961	T138K	probably damaging	Het
Cenpf	T	A	1: 189,680,333	E244D	probably benign	Het
Cep135	A	T	5: 76,606,796		probably benign	Het
Col15a1	A	C	4: 47,208,450	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnah5	A	T	15: 28,458,656	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,690,060		probably null	Het
Flt1	A	G	5: 147,576,156	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074	M469V	probably benign	Het
Fxr2	T	C	11: 69,641,433		probably benign	Het
Gm10801	A	T	2: 98,663,983	Y135F	probably benign	Het
Grm4	A	T	17: 27,434,737	C699*	probably null	Het
Hcn4	A	G	9: 58,859,079	T677A	unknown	Het
Igkv9-123	G	T	6: 67,954,534		probably benign	Het
Irf4	T	A	13: 30,757,421	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,590,679		probably benign	Het
Kmt2c	A	G	5: 25,284,399	V1134A	probably damaging	Het
Limch1	G	T	5: 66,745,958	E17*	probably null	Het
Nap1l1	T	A	10: 111,486,675	N72K	probably damaging	Het
Olfr1265	T	C	2: 90,037,468	L183P	probably damaging	Het
Olfr574	T	C	7: 102,948,839	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,541,233	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,343,179	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,882,211	A197V	probably benign	Het
Psg25	C	T	7: 18,524,699	D351N	probably benign	Het
Sbno1	A	T	5: 124,410,249	I87N	probably damaging	Het
Stfa2l1	C	T	16: 36,159,937		probably benign	Het
Sugp2	T	A	8: 70,242,699	D107E	probably damaging	Het
Syne1	G	T	10: 5,360,848	F576L	probably damaging	Het
Syne3	A	G	12: 104,958,069	F357S	probably benign	Het
Tenm2	A	G	11: 36,041,544	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473	K117*	probably null	Het
Tram1	C	T	1: 13,579,449		probably null	Het
Trank1	T	A	9: 111,386,400	D1799E	probably benign	Het
Ttc14	A	T	3: 33,803,099	Y198F	probably benign	Het
Ube3b	A	G	5: 114,406,252	N570S	probably null	Het
Ube4b	A	G	4: 149,365,470	F412S	probably benign	Het
Vac14	T	C	8: 110,653,607		probably benign	Het
Vmn2r65	T	C	7: 84,943,521	T493A	probably benign	Het
Zfp408	T	C	2: 91,648,006		probably benign	Het
Zfp580	C	T	7: 5,053,268	T209I	possibly damaging	Het

Other mutations in Cfap206

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00797:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL00798:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL00826:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL00919:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01062:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01064:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01069:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01070:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01086:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01087:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01090:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01098:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01111:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01133:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01135:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01147:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01152:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01153:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01155:Cfap206	APN	4	34721562	missense	probably damaging	1.00
IGL01289:Cfap206	APN	4	34716469	missense	probably null	0.98
IGL01845:Cfap206	APN	4	34719610	missense	possibly damaging	0.57
IGL02115:Cfap206	APN	4	34722623	missense	possibly damaging	0.54
IGL03241:Cfap206	APN	4	34711553	missense	probably damaging	1.00
IGL03405:Cfap206	APN	4	34716445	missense	possibly damaging	0.82
ANU05:Cfap206	UTSW	4	34721562	missense	probably damaging	1.00
BB001:Cfap206	UTSW	4	34728833	missense	probably benign	0.10
BB011:Cfap206	UTSW	4	34728833	missense	probably benign	0.10
R0012:Cfap206	UTSW	4	34714519	missense	possibly damaging	0.76
R0689:Cfap206	UTSW	4	34722668	missense	probably benign	0.23
R0730:Cfap206	UTSW	4	34711391	missense	probably benign
R1567:Cfap206	UTSW	4	34716490	missense	probably benign	0.01
R1694:Cfap206	UTSW	4	34719058	missense	probably damaging	1.00
R1706:Cfap206	UTSW	4	34688875	missense	probably damaging	1.00
R1837:Cfap206	UTSW	4	34728813	missense	probably damaging	1.00
R1909:Cfap206	UTSW	4	34722714	missense	probably benign
R2098:Cfap206	UTSW	4	34719053	nonsense	probably null
R2568:Cfap206	UTSW	4	34711566	nonsense	probably null
R3125:Cfap206	UTSW	4	34716310	missense	possibly damaging	0.48
R3784:Cfap206	UTSW	4	34716445	missense	probably damaging	0.99
R5249:Cfap206	UTSW	4	34714502	missense	probably benign
R5483:Cfap206	UTSW	4	34711404	missense	probably benign	0.39
R5569:Cfap206	UTSW	4	34724892	missense	probably damaging	1.00
R6247:Cfap206	UTSW	4	34692530	missense	probably benign
R6555:Cfap206	UTSW	4	34719049	missense	probably damaging	1.00
R6791:Cfap206	UTSW	4	34711414	missense	possibly damaging	0.76
R6865:Cfap206	UTSW	4	34714448	missense	possibly damaging	0.57
R7164:Cfap206	UTSW	4	34719656	missense	probably benign
R7814:Cfap206	UTSW	4	34716347	missense	probably benign	0.01
R7924:Cfap206	UTSW	4	34728833	missense	probably benign	0.10
R8092:Cfap206	UTSW	4	34728897	missense	possibly damaging	0.62
R8240:Cfap206	UTSW	4	34728902	start codon destroyed	probably null	1.00
R8323:Cfap206	UTSW	4	34719647	missense	probably benign	0.00
R8969:Cfap206	UTSW	4	34692522	missense	probably benign	0.00
R9144:Cfap206	UTSW	4	34722667	missense	possibly damaging	0.81
R9336:Cfap206	UTSW	4	34716494	missense	probably benign
Z1176:Cfap206	UTSW	4	34719661	missense	possibly damaging	0.87

Posted On

2015-04-16