Mutagenetix > Incidental Mutations

Incidental Mutation 'R6870:Cfap69'

536134

Institutional Source

Beutler Lab

Gene Symbol

Cfap69

Ensembl Gene

ENSMUSG00000040473

Gene Name

cilia and flagella associated protein 69

Synonyms

A330021E22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6870 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5579278-5664239 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5621958 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 317 (T317A)

Ref Sequence

ENSEMBL: ENSMUSP00000143393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054865] [ENSMUST00000061008] [ENSMUST00000132510] [ENSMUST00000135252] [ENSMUST00000148347] [ENSMUST00000196165]

Predicted Effect

probably benign
Transcript: ENSMUST00000054865
AA Change: T317A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000053206
Gene: ENSMUSG00000040473
AA Change: T317A

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 benign
Transcript: ENSMUST00000061008
AA Change: T317A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000051741
Gene: ENSMUSG00000040473
AA Change: T317A

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 benign
Transcript: ENSMUST00000135252
AA Change: T317A

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117518
Gene: ENSMUSG00000040473
AA Change: T317A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148347

SMART Domains

Protein: ENSMUSP00000119944
Gene: ENSMUSG00000040473

Domain	Start	End	E-Value	Type
low complexity region	383	396	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196165
AA Change: T317A

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143393
Gene: ENSMUSG00000040473
AA Change: T317A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

72% (39/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,136,408	Y62C	probably benign	Het
A1bg	T	C	15: 60,919,715	T291A	probably damaging	Het
Abcb11	A	G	2: 69,285,298	I574T	possibly damaging	Het
Abcb5	T	A	12: 118,965,265	Y17F	possibly damaging	Het
Arfgef3	A	T	10: 18,646,730	L516*	probably null	Het
Arhgap21	A	G	2: 20,880,510	S619P	probably damaging	Het
Atp2c1	A	G	9: 105,470,062	V65A	probably benign	Het
Calm3	T	A	7: 16,919,643	Q9L	probably benign	Het
Cd300c2	C	T	11: 115,000,677	D124N	probably damaging	Het
Celsr3	A	G	9: 108,829,191	T958A	probably benign	Het
Cluh	T	A	11: 74,665,384	I887K	probably damaging	Het
Dag1	A	T	9: 108,209,258	V228E	probably damaging	Het
Dhtkd1	T	C	2: 5,919,437		probably null	Het
Dnah1	T	A	14: 31,271,061	K2959*	probably null	Het
Dnttip2	T	A	3: 122,275,808	V224E	probably damaging	Het
Drosha	C	T	15: 12,907,393	P1071L	probably benign	Het
E030025P04Rik	T	A	11: 109,140,167	H84L	unknown	Het
Elac2	A	T	11: 64,999,763	S698C	probably null	Het
Elf2	A	T	3: 51,294,165	*88R	probably null	Het
Fastkd1	T	A	2: 69,708,614	I143L	probably benign	Het
Fbxw10	C	T	11: 62,855,367	R366C	probably damaging	Het
Frg2f1	T	C	4: 119,531,132	M57V	probably benign	Het
Gbp4	T	C	5: 105,125,578	S129G	probably damaging	Het
Gnat2	A	C	3: 108,095,631		probably benign	Het
Golgb1	C	A	16: 36,918,203	F2301L	probably damaging	Het
Il18bp	T	C	7: 102,017,311	T2A	possibly damaging	Het
Kpna2	T	C	11: 106,992,694		probably null	Het
Lrrfip2	A	T	9: 111,216,119		probably benign	Het
Map4k1	T	G	7: 29,001,671		probably null	Het
Mcm3ap	T	C	10: 76,470,215	V54A	probably benign	Het
Nup133	A	G	8: 123,899,507	I1112T	probably benign	Het
Olfr906	A	C	9: 38,488,086	D19A	probably benign	Het
Pcdhac1	T	A	18: 37,092,087	V651D	probably damaging	Het
Pde10a	A	G	17: 8,967,524	T571A	possibly damaging	Het
Phc3	A	G	3: 30,936,761	S403P	probably damaging	Het
Prl7b1	T	C	13: 27,604,533	E113G	probably damaging	Het
Psmd2	T	G	16: 20,661,843	M744R	probably benign	Het
Qrich2	T	C	11: 116,455,330	D1556G	probably damaging	Het
Sept1	C	T	7: 127,217,704	V46M	probably benign	Het
Shank2	C	A	7: 144,052,460	Q127K	probably damaging	Het
Siah1a	A	G	8: 86,725,025	V277A	possibly damaging	Het
Slc4a7	T	A	14: 14,733,846	D85E	probably damaging	Het
Slc5a12	A	T	2: 110,641,810	I526F	probably damaging	Het
Svil	T	C	18: 5,063,231	V834A	possibly damaging	Het
Sycp1	T	A	3: 102,935,603	S17C	probably damaging	Het
Tmem2	T	C	19: 21,832,123	S956P	possibly damaging	Het
Tssk6	G	A	8: 69,903,023	R239Q	probably benign	Het
Txnrd1	A	G	10: 82,873,208	D80G	probably benign	Het
Tyk2	A	G	9: 21,124,954	F79S	probably damaging	Het
Tyrp1	T	C	4: 80,850,777	S503P	probably benign	Het
Upf1	A	T	8: 70,341,561	C232S	probably benign	Het
Zeb2	G	A	2: 44,988,910	T1080I	probably damaging	Het

Other mutations in Cfap69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Cfap69	APN	5	5584682	missense	probably damaging	1.00
IGL00234:Cfap69	APN	5	5617295	missense	probably benign	0.03
IGL00658:Cfap69	APN	5	5625857	missense	probably damaging	1.00
IGL00901:Cfap69	APN	5	5619162	splice site	probably benign
IGL01410:Cfap69	APN	5	5646979	missense	probably damaging	1.00
IGL01415:Cfap69	APN	5	5646979	missense	probably damaging	1.00
IGL01839:Cfap69	APN	5	5626027	nonsense	probably null
IGL01993:Cfap69	APN	5	5581284	missense	probably damaging	0.99
IGL02821:Cfap69	APN	5	5664017	missense	probably benign	0.01
IGL03212:Cfap69	APN	5	5657849	critical splice acceptor site	probably null
IGL03339:Cfap69	APN	5	5586436	splice site	probably benign
IGL03052:Cfap69	UTSW	5	5589206	missense	probably damaging	0.97
R0049:Cfap69	UTSW	5	5613734	missense	probably benign	0.45
R0049:Cfap69	UTSW	5	5613734	missense	probably benign	0.45
R0387:Cfap69	UTSW	5	5589303	missense	probably damaging	0.98
R0433:Cfap69	UTSW	5	5649853	missense	probably damaging	0.99
R0690:Cfap69	UTSW	5	5663951	missense	probably damaging	0.99
R0702:Cfap69	UTSW	5	5644465	missense	probably benign	0.27
R0718:Cfap69	UTSW	5	5621924	missense	probably damaging	1.00
R1525:Cfap69	UTSW	5	5640230	splice site	probably null
R1670:Cfap69	UTSW	5	5586409	missense	probably benign	0.27
R1677:Cfap69	UTSW	5	5582457	missense	probably damaging	1.00
R1857:Cfap69	UTSW	5	5582518	missense	possibly damaging	0.92
R1916:Cfap69	UTSW	5	5663970	missense	probably damaging	0.99
R1937:Cfap69	UTSW	5	5593818	missense	probably damaging	1.00
R2029:Cfap69	UTSW	5	5604306	missense	probably damaging	1.00
R2106:Cfap69	UTSW	5	5595979	missense	probably benign	0.05
R2177:Cfap69	UTSW	5	5625803	missense	probably damaging	1.00
R2261:Cfap69	UTSW	5	5596018	missense	probably damaging	0.99
R2939:Cfap69	UTSW	5	5644432	missense	probably damaging	0.99
R3706:Cfap69	UTSW	5	5613843	nonsense	probably null
R3876:Cfap69	UTSW	5	5584645	splice site	probably benign
R3893:Cfap69	UTSW	5	5581245	missense	probably damaging	1.00
R4033:Cfap69	UTSW	5	5604389	missense	possibly damaging	0.87
R4760:Cfap69	UTSW	5	5646939	missense	probably damaging	1.00
R4787:Cfap69	UTSW	5	5646934	critical splice donor site	probably null
R4932:Cfap69	UTSW	5	5625820	missense	probably damaging	1.00
R5215:Cfap69	UTSW	5	5589133	missense	possibly damaging	0.82
R5258:Cfap69	UTSW	5	5604271	splice site	probably null
R5596:Cfap69	UTSW	5	5626020	missense	probably damaging	1.00
R5673:Cfap69	UTSW	5	5596027	missense	possibly damaging	0.66
R5752:Cfap69	UTSW	5	5589204	missense	probably damaging	1.00
R5933:Cfap69	UTSW	5	5640183	missense	probably damaging	1.00
R6148:Cfap69	UTSW	5	5663996	missense	probably benign	0.03
R6511:Cfap69	UTSW	5	5617220	missense	probably damaging	0.98
R6550:Cfap69	UTSW	5	5581220	missense	probably benign	0.03
R7455:Cfap69	UTSW	5	5625873	missense	possibly damaging	0.92
R7544:Cfap69	UTSW	5	5595936	missense	not run
R7547:Cfap69	UTSW	5	5604290	missense	possibly damaging	0.88
R7787:Cfap69	UTSW	5	5589260	missense	probably damaging	1.00
R8049:Cfap69	UTSW	5	5619085	intron	probably benign
R8110:Cfap69	UTSW	5	5582515	missense	possibly damaging	0.79
R8128:Cfap69	UTSW	5	5596034	missense	probably benign
R8306:Cfap69	UTSW	5	5604287	missense	probably benign	0.01
X0010:Cfap69	UTSW	5	5644503	splice site	probably null
Z1177:Cfap69	UTSW	5	5586384	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGGCAGGATAGAGGTGACTACT -3'
(R):5'- TCAGCCTTCAGAGATTCAGAGATTT -3'

Sequencing Primer
(F):5'- CAGGATAGAGGTGACTACTGAGAC -3'
(R):5'- GCTGAGTTGCCATAAACATGCTC -3'

Posted On

2018-10-18