Mutagenetix > Incidental Mutation

Incidental Mutation 'R2568:Cfap206'

254615

Institutional Source

Beutler Lab

Gene Symbol

Cfap206

Ensembl Gene

ENSMUSG00000028294

Gene Name

cilia and flagella associated protein 206

Synonyms

1700003M02Rik

MMRRC Submission

040427-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

R2568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34688559-34730206 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 34711566 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 444 (K444*)

Ref Sequence

ENSEMBL: ENSMUSP00000103771 (fasta)

Gene Model

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

AlphaFold

Q6PE87

Predicted Effect

probably null
Transcript: ENSMUST00000029971
AA Change: K444*

SMART Domains

Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: K444*

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

Predicted Effect

probably null
Transcript: ENSMUST00000108136
AA Change: K444*

SMART Domains

Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: K444*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135563

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,201,269	V1010A	possibly damaging	Het
4930563D23Rik	A	G	16: 92,321,319	L27P	probably damaging	Het
A730071L15Rik	A	T	11: 6,200,161		probably benign	Het
Abca13	A	T	11: 9,333,310	N3244I	probably benign	Het
Adgrf5	A	G	17: 43,437,671	T219A	probably damaging	Het
Adgrg5	A	T	8: 94,934,021	N92I	probably damaging	Het
Agt	A	C	8: 124,556,955	V475G	probably damaging	Het
Akap6	A	G	12: 52,887,278	K518E	possibly damaging	Het
Apoh	T	G	11: 108,404,871	D133E	probably benign	Het
Axdnd1	T	A	1: 156,392,749	M234L	possibly damaging	Het
Cacna1d	A	G	14: 30,082,511	I1335T	probably damaging	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Clasp2	A	G	9: 113,878,764	I614M	probably benign	Het
Col6a4	A	T	9: 106,063,076	D1218E	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
D130043K22Rik	C	T	13: 24,883,891	T870M	probably damaging	Het
Dagla	C	A	19: 10,248,152	A883S	probably benign	Het
Dhx30	A	G	9: 110,097,195	V87A	probably damaging	Het
Dtx1	C	A	5: 120,710,184	V44L	possibly damaging	Het
Ecm2	T	A	13: 49,530,129	S528T	possibly damaging	Het
Egfem1	A	T	3: 29,582,931	N172I	probably damaging	Het
Fam102b	T	A	3: 108,978,848	N356I	probably benign	Het
Fam13a	T	G	6: 58,935,609	R686S	probably damaging	Het
Fmo1	T	A	1: 162,836,259	I234L	probably benign	Het
Foxj2	C	T	6: 122,828,372	R68W	probably damaging	Het
Foxo6	A	T	4: 120,268,764	M278K	probably benign	Het
Fsip2	A	G	2: 82,990,431	S5503G	probably benign	Het
Gdf5	C	G	2: 155,942,090	R100G	probably benign	Het
Il1b	A	T	2: 129,367,322	D129E	probably damaging	Het
Klhl29	A	G	12: 5,091,350	S545P	probably damaging	Het
Krt83	G	T	15: 101,487,827	R296S	possibly damaging	Het
Llgl1	T	G	11: 60,708,812	S509R	probably damaging	Het
Lmod1	A	T	1: 135,363,964	K186*	probably null	Het
Lrpprc	C	T	17: 84,726,649	A973T	probably damaging	Het
Marco	T	C	1: 120,494,785	H49R	possibly damaging	Het
Mylk4	T	C	13: 32,722,018	N394S	probably null	Het
Myo5a	A	G	9: 75,123,040	Y147C	probably damaging	Het
Myo5a	T	C	9: 75,151,897	V469A	probably damaging	Het
Myot	A	G	18: 44,337,216	T87A	probably benign	Het
Nav2	A	G	7: 49,597,564	H2154R	probably damaging	Het
Nek10	A	G	14: 14,999,112	E1037G	possibly damaging	Het
Olfr181	A	G	16: 58,925,923	V216A	probably benign	Het
Olfr341	T	C	2: 36,479,974	D52G	probably damaging	Het
Olfr677	A	G	7: 105,056,671	T142A	probably benign	Het
Pitrm1	G	T	13: 6,575,092	V869F	probably benign	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,937,781		probably benign	Het
Prdx1	T	G	4: 116,693,800	I156S	probably benign	Het
Rbks	T	A	5: 31,665,752	T107S	probably damaging	Het
Ryr3	G	A	2: 112,675,874	R3468W	probably damaging	Het
Scn1a	C	T	2: 66,273,469	D1805N	probably damaging	Het
Sirpa	T	C	2: 129,615,648	V214A	probably benign	Het
Slc35c1	T	C	2: 92,458,880	N94D	probably benign	Het
Sorbs2	A	T	8: 45,795,370	K553*	probably null	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Thg1l	A	G	11: 45,951,565	V142A	probably benign	Het
Tiparp	T	A	3: 65,553,130	Y513*	probably null	Het
Tmc6	A	G	11: 117,772,820	V522A	probably benign	Het
Trim39	T	A	17: 36,269,164		probably benign	Het
Trrap	G	A	5: 144,843,369		probably null	Het
Tulp3	C	T	6: 128,327,638	V218I	probably benign	Het
Vmn1r38	T	A	6: 66,776,971	I54F	probably benign	Het
Vmn2r23	T	A	6: 123,742,188	Y833*	probably null	Het
Zfp810	A	T	9: 22,279,238	S125T	probably benign	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
IGL01154: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
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

Predicted Primers

PCR Primer
(F):5'- TCAAGAGAATGCCATGTTTACCTG -3'
(R):5'- TGTGGCTTAATGGGTAAGAAGC -3'

Sequencing Primer
(F):5'- ATGCCATGTTTACCTGAGAATAGGG -3'
(R):5'- ACAGTCCTATAGCCTTTGCATAGGG -3'

Posted On

2014-12-04