Mutagenetix > Incidental Mutation

Incidental Mutation 'R0361:Cfap65'

30074

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

038567-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.524) question?

Stock #

R0361 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74925440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 518 (L518Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094844]

AlphaFold

Q3V0B4

Predicted Effect

probably damaging
Transcript: ENSMUST00000094844
AA Change: L518Q

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

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: L518Q

Domain	Start	End	E-Value	Type
transmembrane domain	111	133	N/A	INTRINSIC
low complexity region	212	223	N/A	INTRINSIC
internal_repeat_1	745	890	9.31e-5	PROSPERO
internal_repeat_1	1167	1322	9.31e-5	PROSPERO
low complexity region	1350	1361	N/A	INTRINSIC
low complexity region	1574	1592	N/A	INTRINSIC
coiled coil region	1687	1724	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139950

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

100% (1/1)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	G	3: 124,413,634	T303P	possibly damaging	Het
1700010I14Rik	G	T	17: 8,992,546	V176L	probably benign	Het
1700034J05Rik	T	C	6: 146,952,371	T262A	possibly damaging	Het
Adgrl3	A	T	5: 81,760,697	I1165F	probably damaging	Het
Ankhd1	T	C	18: 36,647,214	I1773T	probably damaging	Het
Api5	A	T	2: 94,423,497	L287*	probably null	Het
Apol10b	A	T	15: 77,585,386	M197K	possibly damaging	Het
Bcl2	G	A	1: 106,712,694	R63W	probably damaging	Het
Cacna1h	A	G	17: 25,389,422	M731T	probably damaging	Het
Cav1	C	A	6: 17,339,353	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,734,007	I1118F	probably damaging	Het
Cdk7	A	T	13: 100,711,554	Y153*	probably null	Het
Cemip	A	G	7: 83,964,010	I660T	probably benign	Het
Cngb3	A	G	4: 19,366,467	H176R	probably benign	Het
Cux1	T	A	5: 136,279,497	I1263F	probably damaging	Het
Dnajc13	A	G	9: 104,167,059	M1867T	probably benign	Het
Dock2	A	G	11: 34,438,327	L202P	probably damaging	Het
Dyrk3	A	G	1: 131,130,032	S100P	probably benign	Het
Efr3b	A	T	12: 3,977,923	S376T	probably benign	Het
Eps8l2	A	C	7: 141,356,199	N222T	probably benign	Het
Ermp1	A	T	19: 29,631,406	Y158N	probably damaging	Het
Fam13a	A	G	6: 58,987,174	V91A	probably benign	Het
Fat3	A	G	9: 15,998,403	V2101A	possibly damaging	Het
Fsip2	T	C	2: 82,975,505	S723P	possibly damaging	Het
Garem1	G	T	18: 21,299,744	C9*	probably null	Het
Gdpd5	A	G	7: 99,458,790	I530V	possibly damaging	Het
Gm15217	T	A	14: 46,380,384		probably benign	Het
Gm4922	T	C	10: 18,783,541	T478A	probably benign	Het
Gm5483	T	C	16: 36,184,278	S7P	probably damaging	Het
H2-M5	A	G	17: 36,987,436	I329T	possibly damaging	Het
Ing4	G	A	6: 125,047,894	C200Y	probably damaging	Het
Kcnip1	A	T	11: 33,843,177	M5K	probably benign	Het
Kdsr	T	C	1: 106,747,787	E102G	probably damaging	Het
Krt15	C	T	11: 100,133,181	V346M	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lrrc55	A	T	2: 85,196,245	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,212,932	I439T	probably benign	Het
Map2k6	T	C	11: 110,499,509	F290L	probably damaging	Het
Mb21d1	T	A	9: 78,433,252	K399N	probably damaging	Het
Me1	T	A	9: 86,651,002	I136F	probably damaging	Het
Mfap2	A	G	4: 141,014,983	D98G	probably damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mst1	T	C	9: 108,084,897	F696L	probably damaging	Het
Mta1	A	G	12: 113,133,341		probably null	Het
Myh15	A	T	16: 49,114,005	N645I	probably benign	Het
Myo7b	T	A	18: 32,014,209	I94F	probably damaging	Het
Nefh	A	T	11: 4,940,799	S607T	probably benign	Het
Noa1	G	A	5: 77,297,173	Q600*	probably null	Het
Nr2f2	A	G	7: 70,358,062	V71A	possibly damaging	Het
Oas2	A	T	5: 120,738,401	F492L	probably damaging	Het
Olfm3	T	A	3: 115,120,973	D211E	probably damaging	Het
Olfr1390	A	T	11: 49,340,814	Y94F	probably benign	Het
Osmr	A	G	15: 6,841,951		probably null	Het
Plagl2	A	T	2: 153,231,603	D459E	probably benign	Het
Plch2	T	C	4: 155,006,711	D148G	possibly damaging	Het
Plxnc1	C	A	10: 94,865,007	C605F	probably damaging	Het
Ppm1m	T	C	9: 106,198,126	E108G	probably damaging	Het
Prr14l	A	C	5: 32,793,641	L1936R	probably damaging	Het
Ralgapa1	A	G	12: 55,676,569	I1771T	possibly damaging	Het
Rhobtb2	T	C	14: 69,795,908	T538A	probably benign	Het
Rictor	A	G	15: 6,784,107	N1025D	possibly damaging	Het
Sec23a	T	G	12: 58,991,018	D324A	probably damaging	Het
Srgap1	A	T	10: 122,047,192	M1K	probably null	Het
Syne2	T	A	12: 75,918,610	F801I	probably benign	Het
Synrg	T	A	11: 84,024,337		probably null	Het
Tas2r137	T	G	6: 40,491,298	F21V	probably benign	Het
Tmem260	A	T	14: 48,452,047	T108S	possibly damaging	Het
Trim2	T	C	3: 84,190,776	Y406C	probably damaging	Het
Ttn	T	C	2: 76,843,402		probably benign	Het
Vmn1r53	A	T	6: 90,224,082	S87T	possibly damaging	Het
Vmn2r115	T	A	17: 23,345,222	Y123N	probably benign	Het
Vmn2r28	T	A	7: 5,493,716	I46F	probably benign	Het
Zan	T	C	5: 137,396,766	T4381A	unknown	Het
Zfp457	A	G	13: 67,292,646	F622L	probably damaging	Het
Zfp994	A	T	17: 22,200,110	N619K	probably benign	Het
Zfy1	T	C	Y: 726,121	H548R	possibly damaging	Het
Zmym4	A	T	4: 126,911,145	S441T	probably benign	Het

Other mutations in Cfap65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Cfap65	APN	1	74919183	critical splice donor site	probably null
IGL01526:Cfap65	APN	1	74911078	missense	probably damaging	1.00
IGL01716:Cfap65	APN	1	74927194	missense	probably benign
IGL01780:Cfap65	APN	1	74928348	nonsense	probably null
IGL01993:Cfap65	APN	1	74920543	missense	probably damaging	1.00
IGL02164:Cfap65	APN	1	74928145	missense	possibly damaging	0.87
IGL02350:Cfap65	APN	1	74928348	nonsense	probably null
IGL02357:Cfap65	APN	1	74928348	nonsense	probably null
IGL02576:Cfap65	APN	1	74903458	missense	probably damaging	1.00
IGL02756:Cfap65	APN	1	74905080	missense	probably benign	0.00
IGL02792:Cfap65	APN	1	74927178	missense	probably damaging	1.00
IGL02874:Cfap65	APN	1	74911108	nonsense	probably null
IGL03101:Cfap65	APN	1	74928433	missense	possibly damaging	0.61
IGL03348:Cfap65	APN	1	74927619	missense	probably damaging	1.00
IGL03396:Cfap65	APN	1	74904642	missense	probably damaging	1.00
PIT4131001:Cfap65	UTSW	1	74928342	missense	probably benign	0.05
R0077:Cfap65	UTSW	1	74931918	missense	probably damaging	1.00
R0227:Cfap65	UTSW	1	74931958	nonsense	probably null
R0281:Cfap65	UTSW	1	74927071	missense	probably damaging	1.00
R0312:Cfap65	UTSW	1	74904067	missense	probably damaging	1.00
R0331:Cfap65	UTSW	1	74929301	missense	probably damaging	1.00
R0331:Cfap65	UTSW	1	74929302	missense	probably damaging	1.00
R0347:Cfap65	UTSW	1	74926444	missense	probably damaging	1.00
R0359:Cfap65	UTSW	1	74920601	missense	probably benign	0.00
R0465:Cfap65	UTSW	1	74916884	missense	possibly damaging	0.92
R0549:Cfap65	UTSW	1	74918444	missense	probably benign	0.01
R0646:Cfap65	UTSW	1	74902169	missense	probably benign	0.09
R0734:Cfap65	UTSW	1	74918887	missense	probably damaging	1.00
R0763:Cfap65	UTSW	1	74904682	missense	probably damaging	0.99
R0990:Cfap65	UTSW	1	74921519	missense	possibly damaging	0.60
R1079:Cfap65	UTSW	1	74902447	missense	probably damaging	0.98
R1079:Cfap65	UTSW	1	74905713	missense	probably damaging	0.99
R1083:Cfap65	UTSW	1	74918504	splice site	probably benign
R1159:Cfap65	UTSW	1	74929340	missense	probably damaging	1.00
R1282:Cfap65	UTSW	1	74925104	missense	probably benign	0.03
R1644:Cfap65	UTSW	1	74917175	missense	probably damaging	1.00
R1796:Cfap65	UTSW	1	74918948	missense	probably damaging	1.00
R1950:Cfap65	UTSW	1	74907660	missense	probably damaging	1.00
R2079:Cfap65	UTSW	1	74917199	missense	probably benign	0.30
R2132:Cfap65	UTSW	1	74907691	missense	probably damaging	1.00
R2136:Cfap65	UTSW	1	74917273	frame shift	probably null
R2219:Cfap65	UTSW	1	74904025	missense	probably damaging	1.00
R2220:Cfap65	UTSW	1	74904025	missense	probably damaging	1.00
R2291:Cfap65	UTSW	1	74926475	missense	probably damaging	1.00
R2417:Cfap65	UTSW	1	74927186	small insertion	probably benign
R3114:Cfap65	UTSW	1	74927132	missense	probably damaging	1.00
R4202:Cfap65	UTSW	1	74920542	missense	probably damaging	1.00
R4214:Cfap65	UTSW	1	74927681	missense	possibly damaging	0.93
R4254:Cfap65	UTSW	1	74903358	missense	probably benign	0.17
R4547:Cfap65	UTSW	1	74907612	missense	probably damaging	1.00
R4548:Cfap65	UTSW	1	74907612	missense	probably damaging	1.00
R4588:Cfap65	UTSW	1	74904056	missense	possibly damaging	0.92
R4657:Cfap65	UTSW	1	74925354	intron	probably benign
R4701:Cfap65	UTSW	1	74918908	missense	probably damaging	0.96
R4755:Cfap65	UTSW	1	74928361	missense	probably damaging	1.00
R4820:Cfap65	UTSW	1	74927632	missense	probably benign	0.06
R4831:Cfap65	UTSW	1	74917295	missense	possibly damaging	0.93
R4866:Cfap65	UTSW	1	74925557	missense	probably damaging	1.00
R4869:Cfap65	UTSW	1	74919261	missense	probably benign	0.00
R4881:Cfap65	UTSW	1	74907613	missense	probably damaging	1.00
R4884:Cfap65	UTSW	1	74903124	missense	possibly damaging	0.47
R4950:Cfap65	UTSW	1	74906336	nonsense	probably null
R5074:Cfap65	UTSW	1	74922978	missense	probably benign	0.04
R5083:Cfap65	UTSW	1	74906441	missense	probably damaging	1.00
R5164:Cfap65	UTSW	1	74926516	missense	probably damaging	1.00
R5268:Cfap65	UTSW	1	74924902	missense	probably benign	0.07
R5333:Cfap65	UTSW	1	74903175	missense	probably benign	0.03
R5417:Cfap65	UTSW	1	74925100	missense	probably damaging	1.00
R5582:Cfap65	UTSW	1	74907518	intron	probably benign
R5669:Cfap65	UTSW	1	74924968	missense	probably damaging	0.99
R6010:Cfap65	UTSW	1	74923031	missense	probably damaging	1.00
R6084:Cfap65	UTSW	1	74920405	missense	probably damaging	1.00
R6112:Cfap65	UTSW	1	74903139	missense	probably benign	0.14
R6425:Cfap65	UTSW	1	74927709	missense	probably benign	0.00
R6677:Cfap65	UTSW	1	74904685	missense	probably damaging	1.00
R6693:Cfap65	UTSW	1	74917286	missense	probably benign	0.00
R6838:Cfap65	UTSW	1	74932021	missense	probably benign	0.06
R6861:Cfap65	UTSW	1	74925115	missense	probably damaging	1.00
R6958:Cfap65	UTSW	1	74931899	missense	possibly damaging	0.58
R7134:Cfap65	UTSW	1	74926633	missense	probably benign	0.01
R7320:Cfap65	UTSW	1	74926604	missense	probably damaging	0.99
R7340:Cfap65	UTSW	1	74921583	missense	probably benign	0.07
R7426:Cfap65	UTSW	1	74920426	missense	possibly damaging	0.92
R7529:Cfap65	UTSW	1	74926610	missense	probably damaging	1.00
R7634:Cfap65	UTSW	1	74902434	missense	probably damaging	1.00
R7654:Cfap65	UTSW	1	74933144	missense	probably benign	0.44
R7704:Cfap65	UTSW	1	74928368	missense	probably benign	0.19
R7727:Cfap65	UTSW	1	74926625	missense	probably benign	0.00
R7895:Cfap65	UTSW	1	74933162	missense	probably benign	0.05
R8215:Cfap65	UTSW	1	74910743	missense	probably damaging	1.00
R8344:Cfap65	UTSW	1	74928044	missense	probably benign	0.01
R8345:Cfap65	UTSW	1	74928044	missense	probably benign	0.01
R8413:Cfap65	UTSW	1	74917169	nonsense	probably null
R8431:Cfap65	UTSW	1	74928044	missense	probably benign	0.01
R8432:Cfap65	UTSW	1	74928044	missense	probably benign	0.01
R8528:Cfap65	UTSW	1	74905937	missense	possibly damaging	0.88
R8809:Cfap65	UTSW	1	74903223	missense	probably benign	0.43
R8996:Cfap65	UTSW	1	74902188	missense	probably benign	0.11
R9020:Cfap65	UTSW	1	74920393	missense	probably damaging	1.00
R9043:Cfap65	UTSW	1	74904688	missense	possibly damaging	0.88
R9127:Cfap65	UTSW	1	74919351	splice site	probably benign
R9187:Cfap65	UTSW	1	74917358	missense	probably benign	0.00
R9210:Cfap65	UTSW	1	74920408	missense	probably benign
R9212:Cfap65	UTSW	1	74920408	missense	probably benign
R9273:Cfap65	UTSW	1	74921610	missense	probably benign	0.00
R9454:Cfap65	UTSW	1	74905051	missense	probably damaging	1.00
R9514:Cfap65	UTSW	1	74906309	critical splice donor site	probably null
R9595:Cfap65	UTSW	1	74907378	missense	probably damaging	1.00
R9721:Cfap65	UTSW	1	74919342	missense	probably benign	0.16
R9742:Cfap65	UTSW	1	74904681	missense	probably benign	0.08
RF009:Cfap65	UTSW	1	74905647	missense	probably damaging	1.00
Z1176:Cfap65	UTSW	1	74910747	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCTTCAAGTGTTCCATGCGG -3'
(R):5'- AGAGCAAGCAATAGCTGAGCATCC -3'

Sequencing Primer
(F):5'- ATCCCCAGCTACAGTAGTGTAGG -3'
(R):5'- TGAGCATCCTAGCTACAGGTC -3'

Posted On

2013-04-24