Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03212:Cfap69'

413357

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap69

Ensembl Gene

ENSMUSG00000040473

Gene Name

cilia and flagella associated protein 69

Synonyms

A330021E22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03212

Quality Score

Status

Chromosome

Chromosomal Location

5629284-5714232 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to G at 5707849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054865] [ENSMUST00000061008] [ENSMUST00000132510] [ENSMUST00000135252] [ENSMUST00000148193] [ENSMUST00000196165]

AlphaFold

Q8BH53

Predicted Effect

probably null
Transcript: ENSMUST00000054865

SMART Domains

Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	847	860	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000061008

SMART Domains

Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132510

SMART Domains

Protein: ENSMUSP00000122569
Gene: ENSMUSG00000040473

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000135252

SMART Domains

Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000148193

Predicted Effect

probably null
Transcript: ENSMUST00000196165

SMART Domains

Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	676	689	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198121

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit faster response kinetics and stimuli integration to olfactory stimulation and impaired olfaction a buried food pellet test with a background of the same odor. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,242,085 (GRCm39)	S657P	probably benign	Het
Atp2c1	T	A	9: 105,322,466 (GRCm39)	N221I	probably damaging	Het
Atp5pd	G	T	11: 115,306,597 (GRCm39)	H155N	probably damaging	Het
Cd55b	A	T	1: 130,339,179 (GRCm39)	N316K	probably benign	Het
Celsr1	A	T	15: 85,814,878 (GRCm39)	M1861K	probably benign	Het
Col7a1	C	A	9: 108,803,520 (GRCm39)	P2169Q	unknown	Het
Cyp2j5	G	T	4: 96,552,055 (GRCm39)	H65N	probably damaging	Het
Dnah5	T	C	15: 28,290,309 (GRCm39)	V1233A	probably benign	Het
Fn1	A	T	1: 71,680,484 (GRCm39)	L407*	probably null	Het
Fpr-rs3	T	C	17: 20,844,121 (GRCm39)	D340G	probably benign	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Glmp	T	C	3: 88,235,664 (GRCm39)	S317P	probably benign	Het
Gm5581	A	T	6: 131,158,413 (GRCm39)		noncoding transcript	Het
Gm5624	A	T	14: 44,798,167 (GRCm39)	N103K	probably benign	Het
Gprin3	A	G	6: 59,332,013 (GRCm39)	F98S	probably benign	Het
Ighmbp2	A	G	19: 3,329,942 (GRCm39)	V104A	probably damaging	Het
Igkv4-79	A	C	6: 69,020,214 (GRCm39)	S34A	probably benign	Het
Igsf10	G	A	3: 59,235,586 (GRCm39)	P1532S	probably benign	Het
Myt1l	A	G	12: 29,877,819 (GRCm39)	K490R	unknown	Het
Or5d46	T	A	2: 88,170,016 (GRCm39)	Y36N	probably damaging	Het
Pira13	T	A	7: 3,826,132 (GRCm39)	Q287L	probably benign	Het
Plxna1	T	A	6: 89,308,885 (GRCm39)	T1198S	probably damaging	Het
Pramel6	A	G	2: 87,340,769 (GRCm39)	D367G	probably damaging	Het
Rbm28	G	T	6: 29,131,274 (GRCm39)	R10S	probably damaging	Het
Rdh10	T	G	1: 16,178,051 (GRCm39)	C108G	probably benign	Het
Rfx7	C	A	9: 72,526,443 (GRCm39)	T1211K	probably benign	Het
Slc24a5	C	A	2: 124,922,750 (GRCm39)	T141N	probably damaging	Het
Smarca5	T	A	8: 81,438,410 (GRCm39)	N642I	possibly damaging	Het
Smchd1	C	A	17: 71,750,886 (GRCm39)	R344L	probably damaging	Het
Tmx3	T	A	18: 90,556,642 (GRCm39)	I355N	probably damaging	Het
Tram1l1	G	A	3: 124,115,563 (GRCm39)	G241D	possibly damaging	Het
Ubr4	A	G	4: 139,137,074 (GRCm39)	T982A	probably benign	Het
Vmn2r52	T	G	7: 9,893,474 (GRCm39)	H555P	possibly damaging	Het
Zbtb43	A	T	2: 33,344,286 (GRCm39)	M313K	probably benign	Het
Zfp942	A	T	17: 22,148,445 (GRCm39)	Y61*	probably null	Het

Other mutations in Cfap69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Cfap69	APN	5	5,634,682 (GRCm39)	missense	probably damaging	1.00
IGL00234:Cfap69	APN	5	5,667,295 (GRCm39)	missense	probably benign	0.03
IGL00658:Cfap69	APN	5	5,675,857 (GRCm39)	missense	probably damaging	1.00
IGL00901:Cfap69	APN	5	5,669,162 (GRCm39)	splice site	probably benign
IGL01410:Cfap69	APN	5	5,696,979 (GRCm39)	missense	probably damaging	1.00
IGL01415:Cfap69	APN	5	5,696,979 (GRCm39)	missense	probably damaging	1.00
IGL01839:Cfap69	APN	5	5,676,027 (GRCm39)	nonsense	probably null
IGL01993:Cfap69	APN	5	5,631,284 (GRCm39)	missense	probably damaging	0.99
IGL02821:Cfap69	APN	5	5,714,017 (GRCm39)	missense	probably benign	0.01
IGL03339:Cfap69	APN	5	5,636,436 (GRCm39)	splice site	probably benign
IGL03052:Cfap69	UTSW	5	5,639,206 (GRCm39)	missense	probably damaging	0.97
R0049:Cfap69	UTSW	5	5,663,734 (GRCm39)	missense	probably benign	0.45
R0049:Cfap69	UTSW	5	5,663,734 (GRCm39)	missense	probably benign	0.45
R0387:Cfap69	UTSW	5	5,639,303 (GRCm39)	missense	probably damaging	0.98
R0433:Cfap69	UTSW	5	5,699,853 (GRCm39)	missense	probably damaging	0.99
R0690:Cfap69	UTSW	5	5,713,951 (GRCm39)	missense	probably damaging	0.99
R0702:Cfap69	UTSW	5	5,694,465 (GRCm39)	missense	probably benign	0.27
R0718:Cfap69	UTSW	5	5,671,924 (GRCm39)	missense	probably damaging	1.00
R1525:Cfap69	UTSW	5	5,690,230 (GRCm39)	splice site	probably null
R1670:Cfap69	UTSW	5	5,636,409 (GRCm39)	missense	probably benign	0.27
R1677:Cfap69	UTSW	5	5,632,457 (GRCm39)	missense	probably damaging	1.00
R1857:Cfap69	UTSW	5	5,632,518 (GRCm39)	missense	possibly damaging	0.92
R1916:Cfap69	UTSW	5	5,713,970 (GRCm39)	missense	probably damaging	0.99
R1937:Cfap69	UTSW	5	5,643,818 (GRCm39)	missense	probably damaging	1.00
R2029:Cfap69	UTSW	5	5,654,306 (GRCm39)	missense	probably damaging	1.00
R2106:Cfap69	UTSW	5	5,645,979 (GRCm39)	missense	probably benign	0.05
R2177:Cfap69	UTSW	5	5,675,803 (GRCm39)	missense	probably damaging	1.00
R2261:Cfap69	UTSW	5	5,646,018 (GRCm39)	missense	probably damaging	0.99
R2939:Cfap69	UTSW	5	5,694,432 (GRCm39)	missense	probably damaging	0.99
R3706:Cfap69	UTSW	5	5,663,843 (GRCm39)	nonsense	probably null
R3876:Cfap69	UTSW	5	5,634,645 (GRCm39)	splice site	probably benign
R3893:Cfap69	UTSW	5	5,631,245 (GRCm39)	missense	probably damaging	1.00
R4033:Cfap69	UTSW	5	5,654,389 (GRCm39)	missense	possibly damaging	0.87
R4760:Cfap69	UTSW	5	5,696,939 (GRCm39)	missense	probably damaging	1.00
R4787:Cfap69	UTSW	5	5,696,934 (GRCm39)	critical splice donor site	probably null
R4932:Cfap69	UTSW	5	5,675,820 (GRCm39)	missense	probably damaging	1.00
R5215:Cfap69	UTSW	5	5,639,133 (GRCm39)	missense	possibly damaging	0.82
R5258:Cfap69	UTSW	5	5,654,271 (GRCm39)	splice site	probably null
R5596:Cfap69	UTSW	5	5,676,020 (GRCm39)	missense	probably damaging	1.00
R5673:Cfap69	UTSW	5	5,646,027 (GRCm39)	missense	possibly damaging	0.66
R5752:Cfap69	UTSW	5	5,639,204 (GRCm39)	missense	probably damaging	1.00
R5933:Cfap69	UTSW	5	5,690,183 (GRCm39)	missense	probably damaging	1.00
R6148:Cfap69	UTSW	5	5,713,996 (GRCm39)	missense	probably benign	0.03
R6511:Cfap69	UTSW	5	5,667,220 (GRCm39)	missense	probably damaging	0.98
R6550:Cfap69	UTSW	5	5,631,220 (GRCm39)	missense	probably benign	0.03
R6870:Cfap69	UTSW	5	5,671,958 (GRCm39)	missense	probably benign	0.26
R7455:Cfap69	UTSW	5	5,675,873 (GRCm39)	missense	possibly damaging	0.92
R7544:Cfap69	UTSW	5	5,645,936 (GRCm39)	missense	not run
R7547:Cfap69	UTSW	5	5,654,290 (GRCm39)	missense	possibly damaging	0.88
R7787:Cfap69	UTSW	5	5,639,260 (GRCm39)	missense	probably damaging	1.00
R8049:Cfap69	UTSW	5	5,669,085 (GRCm39)	intron	probably benign
R8110:Cfap69	UTSW	5	5,632,515 (GRCm39)	missense	possibly damaging	0.79
R8128:Cfap69	UTSW	5	5,646,034 (GRCm39)	missense	probably benign
R8306:Cfap69	UTSW	5	5,654,287 (GRCm39)	missense	probably benign	0.01
R9028:Cfap69	UTSW	5	5,696,958 (GRCm39)	missense	probably benign	0.02
R9106:Cfap69	UTSW	5	5,690,190 (GRCm39)	missense	possibly damaging	0.92
R9179:Cfap69	UTSW	5	5,676,064 (GRCm39)	missense	probably benign	0.30
R9199:Cfap69	UTSW	5	5,668,952 (GRCm39)	missense	possibly damaging	0.87
R9422:Cfap69	UTSW	5	5,699,851 (GRCm39)	missense	probably benign	0.00
R9585:Cfap69	UTSW	5	5,631,269 (GRCm39)	missense	possibly damaging	0.52
R9617:Cfap69	UTSW	5	5,639,164 (GRCm39)	missense	probably damaging	1.00
R9674:Cfap69	UTSW	5	5,697,021 (GRCm39)	missense	possibly damaging	0.68
R9697:Cfap69	UTSW	5	5,676,041 (GRCm39)	missense	possibly damaging	0.60
X0010:Cfap69	UTSW	5	5,694,503 (GRCm39)	splice site	probably null
Z1177:Cfap69	UTSW	5	5,636,384 (GRCm39)	missense	possibly damaging	0.94

Posted On

2016-08-02