Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03405:Cfap206'

421578

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

Is this an essential gene?

Possibly non essential (E-score: 0.302) question?

Stock #

IGL03405

Quality Score

Status

Chromosome

Chromosomal Location

34688559-34730206 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34716445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 340 (I340T)

Ref Sequence

ENSEMBL: ENSMUSP00000103771 (fasta)

Gene Model

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

AlphaFold

Q6PE87

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029971
AA Change: I340T

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029971
Gene: ENSMUSG00000028294
AA Change: I340T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108136
AA Change: I340T

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103771
Gene: ENSMUSG00000028294
AA Change: I340T

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 120,016,403	V101A	probably benign	Het
Btbd3	G	A	2: 138,279,761	M121I	probably damaging	Het
Caprin1	G	A	2: 103,779,505	R143C	probably damaging	Het
Chmp6	A	G	11: 119,915,447	Y33C	probably damaging	Het
Clstn3	T	C	6: 124,438,368	D679G	possibly damaging	Het
Col24a1	G	A	3: 145,315,157	A430T	possibly damaging	Het
Commd6	A	T	14: 101,637,072	V28E	probably damaging	Het
Eno2	T	A	6: 124,763,885	Y236F	probably benign	Het
Erbb4	T	C	1: 68,330,238	S415G	probably benign	Het
Evpl	A	G	11: 116,227,927	I648T	possibly damaging	Het
Fat1	T	A	8: 45,025,241	D2441E	probably damaging	Het
Fat4	T	C	3: 38,958,450	V2298A	probably benign	Het
Fbxl8	C	A	8: 105,268,120	T88K	probably benign	Het
Ganc	A	G	2: 120,433,766	H400R	probably damaging	Het
Helb	G	A	10: 120,089,796	T892I	probably damaging	Het
Jaml	A	T	9: 45,093,809	K124N	possibly damaging	Het
Llgl2	G	T	11: 115,850,842	E599D	probably benign	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Nr2e1	G	A	10: 42,568,381	A244V	probably damaging	Het
Obscn	T	C	11: 59,000,124	K7194R	unknown	Het
Olfr1031	A	G	2: 85,991,886	Q23R	possibly damaging	Het
Olfr1394	A	G	11: 49,160,886		probably null	Het
Rasgrf2	A	T	13: 91,896,051	I961N	probably damaging	Het
Retreg3	T	C	11: 101,100,969	D46G	probably damaging	Het
Rtp2	A	C	16: 23,927,576	S122A	probably benign	Het
Sbf2	T	A	7: 110,462,932	D146V	probably damaging	Het
Slc39a13	A	G	2: 91,063,103	V324A	probably damaging	Het
Sptan1	A	G	2: 30,025,581	T2013A	probably damaging	Het
Tnni3k	A	G	3: 154,792,767		probably benign	Het
Tnpo1	C	T	13: 98,863,840	E340K	probably damaging	Het
Trpm2	G	A	10: 77,966,072		probably benign	Het
Ttn	A	G	2: 76,708,932	L34570P	possibly damaging	Het
Vmn2r100	T	C	17: 19,531,924	V806A	probably damaging	Het
Wdr70	A	G	15: 8,035,871	S237P	possibly damaging	Het
Wnk1	T	C	6: 119,953,895	N896S	probably benign	Het
Zan	T	A	5: 137,424,597	D2718V	unknown	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
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

2016-08-02