Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00658:Cfap69'

8505

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 #

IGL00658

Quality Score

Status

Chromosome

Chromosomal Location

5629284-5714232 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5675857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 252 (D252E)

Ref Sequence

ENSEMBL: ENSMUSP00000143393 (fasta)

Gene Model

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

AlphaFold

Q8BH53

Predicted Effect

probably damaging
Transcript: ENSMUST00000054865
AA Change: D252E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: D252E

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 damaging
Transcript: ENSMUST00000061008
AA Change: D252E

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

SMART Domains

Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: D252E

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 damaging
Transcript: ENSMUST00000135252
AA Change: D252E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: D252E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150140

Predicted Effect

probably damaging
Transcript: ENSMUST00000196165
AA Change: D252E

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

SMART Domains

Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: D252E

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: ENSMUST00000199314

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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	A	8: 44,021,940 (GRCm39)	M517L	probably benign	Het
Alms1	A	G	6: 85,605,943 (GRCm39)	E2531G	probably damaging	Het
Apob	A	T	12: 8,059,471 (GRCm39)	H2618L	probably benign	Het
Gm904	G	T	13: 50,798,758 (GRCm39)	A76S	possibly damaging	Het
Kansl1	G	A	11: 104,248,352 (GRCm39)	T534I	probably benign	Het
Ripor1	C	T	8: 106,344,749 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,116,382 (GRCm39)	Q1439R	probably damaging	Het
Serpina3i	T	A	12: 104,231,429 (GRCm39)	V22D	possibly damaging	Het
Slc22a2	A	T	17: 12,834,202 (GRCm39)	D490V	probably benign	Het
Tlcd5	T	C	9: 43,024,786 (GRCm39)	I57V	probably benign	Het
Ttn	G	A	2: 76,727,616 (GRCm39)		probably benign	Het
Vegfc	T	C	8: 54,609,983 (GRCm39)		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
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
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

2012-12-06