Mutagenetix > Incidental Mutation

Incidental Mutation 'R5483:Cfap206'

434427

Institutional Source

Beutler Lab

Gene Symbol

Cfap206

Ensembl Gene

ENSMUSG00000028294

Gene Name

cilia and flagella associated protein 206

Synonyms

1700003M02Rik

MMRRC Submission

043044-MU

Accession Numbers

Essential gene?

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

Stock #

R5483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34688559-34730206 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34711404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 498 (Q498K)

Ref Sequence

ENSEMBL: ENSMUSP00000103771 (fasta)

Gene Model

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

AlphaFold

Q6PE87

Predicted Effect

probably benign
Transcript: ENSMUST00000029971
AA Change: Q498K

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: Q498K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108136
AA Change: Q498K

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: Q498K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135563

Coding Region Coverage

1x: 99.0%
3x: 97.5%
10x: 94.8%
20x: 89.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dnmt3a	A	G	12: 3,949,615 (GRCm39)	Y524C	probably damaging	Het
Dnttip2	A	T	3: 122,070,446 (GRCm39)	T554S	probably damaging	Het
Emc1	A	G	4: 139,102,687 (GRCm39)	T949A	probably damaging	Het
Enkur	A	T	2: 21,199,109 (GRCm39)	F142I	probably benign	Het
Fbxo24	C	T	5: 137,617,002 (GRCm39)	A362T	probably damaging	Het
Heatr1	A	G	13: 12,413,795 (GRCm39)	H124R	probably damaging	Het
Hira	T	A	16: 18,788,290 (GRCm39)	I1011N	possibly damaging	Het
Ipo5	T	A	14: 121,157,450 (GRCm39)	I96N	probably benign	Het
Kctd16	A	G	18: 40,663,929 (GRCm39)	I353V	probably benign	Het
Klf11	T	A	12: 24,705,410 (GRCm39)	L288*	probably null	Het
Kmt2a	A	T	9: 44,735,921 (GRCm39)		probably benign	Het
Lmbrd1	T	C	1: 24,783,989 (GRCm39)	Y373H	probably damaging	Het
Mlh1	G	A	9: 111,060,126 (GRCm39)	A584V	possibly damaging	Het
Ociad1	T	C	5: 73,452,314 (GRCm39)	F35S	probably damaging	Het
Or11l3	T	A	11: 58,516,783 (GRCm39)	I30F	possibly damaging	Het
Or6c208	T	C	10: 129,223,526 (GRCm39)	I8T	probably benign	Het
Or8u3-ps	C	T	2: 85,952,962 (GRCm39)	Q232*	probably null	Het
Pkd1l1	C	T	11: 8,851,141 (GRCm39)		probably null	Het
Pole	T	A	5: 110,442,434 (GRCm39)	D287E	probably damaging	Het
Polh	G	T	17: 46,483,671 (GRCm39)	S531R	probably benign	Het
Prss29	A	G	17: 25,541,177 (GRCm39)	K207R	probably benign	Het
Rasgrp3	T	G	17: 75,832,013 (GRCm39)	S611R	probably damaging	Het
Rffl	G	T	11: 82,703,549 (GRCm39)		probably null	Het
Scrib	A	G	15: 75,939,508 (GRCm39)		probably null	Het
Serpinb3a	T	A	1: 106,974,899 (GRCm39)	K211N	probably benign	Het
Slc22a3	C	T	17: 12,683,354 (GRCm39)	A170T	probably damaging	Het
Socs5	T	G	17: 87,442,402 (GRCm39)	F447L	probably damaging	Het
Srrm2	T	A	17: 24,040,246 (GRCm39)	S2393T	probably damaging	Het
Usp7	T	A	16: 8,516,404 (GRCm39)	Y585F	probably benign	Het
Vps39	A	T	2: 120,153,564 (GRCm39)	I670N	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCTTCGACGTACCAAGTG -3'
(R):5'- CTTAATTTTCACAGGAAATCCAGCC -3'

Sequencing Primer
(F):5'- GTGACCTTTTGACTCAAAGAGCC -3'
(R):5'- TTTCACAGGAAATCCAGCCATTGG -3'

Posted On

2016-10-06