Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01415:Cfap69'

278460

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 #

IGL01415

Quality Score

Status

Chromosome

Chromosomal Location

5629284-5714232 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5696979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 106 (P106S)

Ref Sequence

ENSEMBL: ENSMUSP00000122569 (fasta)

Gene Model

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

AlphaFold

Q8BH53

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054865
AA Change: P106S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: P106S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061008
AA Change: P106S

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: P106S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000132510
AA Change: P106S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122569
Gene: ENSMUSG00000040473
AA Change: P106S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135252
AA Change: P106S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: P106S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148193

Predicted Effect

probably damaging
Transcript: ENSMUST00000196165
AA Change: P106S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: P106S

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd44	T	C	1: 54,792,087 (GRCm39)	H316R	probably damaging	Het
Arfgef2	G	A	2: 166,709,275 (GRCm39)	M1117I	probably damaging	Het
Cdc42bpg	A	G	19: 6,360,881 (GRCm39)	D213G	probably damaging	Het
Chkb	A	T	15: 89,312,987 (GRCm39)	L30H	probably damaging	Het
Cit	A	G	5: 116,079,962 (GRCm39)	K758E	possibly damaging	Het
Clstn3	G	A	6: 124,415,781 (GRCm39)	Q634*	probably null	Het
Efcab15	T	C	11: 103,091,754 (GRCm39)	Q42R	probably damaging	Het
Esrra	C	A	19: 6,890,100 (GRCm39)	W98C	probably damaging	Het
Ganab	A	G	19: 8,892,058 (GRCm39)		probably benign	Het
Gcnt3	G	T	9: 69,941,739 (GRCm39)	H276Q	probably benign	Het
Gm16506	A	G	14: 43,961,630 (GRCm39)	Y206H	probably benign	Het
Gvin3	C	T	7: 106,202,258 (GRCm39)		noncoding transcript	Het
Hkdc1	T	A	10: 62,229,638 (GRCm39)	N680Y	probably damaging	Het
Ighe	A	C	12: 113,235,011 (GRCm39)	L383R	unknown	Het
Lgals9	T	G	11: 78,863,977 (GRCm39)	D56A	probably damaging	Het
Marveld3	G	A	8: 110,688,705 (GRCm39)	T12I	possibly damaging	Het
Nab2	A	T	10: 127,500,972 (GRCm39)	L40Q	probably damaging	Het
Naip6	T	C	13: 100,439,798 (GRCm39)	E323G	probably benign	Het
Nubpl	T	A	12: 52,317,853 (GRCm39)	V182E	possibly damaging	Het
Or2ag15	A	G	7: 106,340,706 (GRCm39)	V145A	probably benign	Het
Or4c11	T	A	2: 88,695,864 (GRCm39)	M305K	probably benign	Het
Or6b3	A	G	1: 92,438,974 (GRCm39)	Y259H	probably damaging	Het
Peg3	A	G	7: 6,714,652 (GRCm39)	I190T	probably damaging	Het
Plcl1	G	A	1: 55,735,555 (GRCm39)	V299M	possibly damaging	Het
Ppp4r1	G	A	17: 66,120,522 (GRCm39)	E219K	probably damaging	Het
Sh3d19	G	A	3: 86,005,492 (GRCm39)	A280T	probably benign	Het
Srebf2	A	G	15: 82,061,663 (GRCm39)	I370V	probably benign	Het
Tfb2m	A	G	1: 179,359,695 (GRCm39)		probably benign	Het
Ttll7	T	G	3: 146,615,354 (GRCm39)	S273A	possibly damaging	Het
Unc79	A	G	12: 103,074,944 (GRCm39)	N1401D	probably damaging	Het
Vmn2r115	T	A	17: 23,578,755 (GRCm39)	S743T	probably damaging	Het
Zfand4	G	A	6: 116,291,830 (GRCm39)	R588Q	probably benign	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
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
IGL03212:Cfap69	APN	5	5,707,849 (GRCm39)	critical splice acceptor site	probably null
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

2015-04-16