Mutagenetix > Incidental Mutation

Incidental Mutation 'R0359:Cfap65'

29969

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

038565-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.524) question?

Stock #

R0359 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74920601 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 797 (M797L)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

probably benign
Transcript: ENSMUST00000094844
AA Change: M797L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: M797L

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

Meta Mutation Damage Score

0.0781

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 145,045,371	Y255*	probably null	Het
2310003L06Rik	A	T	5: 87,964,596		probably benign	Het
Abcb5	A	G	12: 118,940,332	S213P	probably damaging	Het
Agpat1	A	G	17: 34,610,577	I42V	probably benign	Het
Apoh	A	T	11: 108,397,373	I106F	probably damaging	Het
BB014433	G	T	8: 15,042,540	C104*	probably null	Het
Bsn	C	T	9: 108,111,846	G2236S	possibly damaging	Het
Casp9	A	G	4: 141,793,910	E19G	probably damaging	Het
Ces1g	T	C	8: 93,328,535		probably benign	Het
Col14a1	A	G	15: 55,407,868		probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Col27a1	G	T	4: 63,314,727		probably null	Het
Col6a4	T	A	9: 105,997,146	H2214L	probably benign	Het
Ctu2	T	G	8: 122,478,193	S72R	probably damaging	Het
Cyp24a1	T	A	2: 170,491,699	M245L	possibly damaging	Het
Dgkb	T	A	12: 38,216,031	V503E	probably benign	Het
Diaph3	T	C	14: 86,969,502	R501G	probably benign	Het
Dip2b	A	G	15: 100,211,993	D1453G	probably damaging	Het
Dnah2	G	A	11: 69,529,531	T119M	probably benign	Het
F5	T	G	1: 164,179,449	V274G	probably damaging	Het
Farp1	A	T	14: 121,255,396		probably benign	Het
Foxf1	T	C	8: 121,085,003	V202A	possibly damaging	Het
Fras1	G	A	5: 96,762,590	V3293I	probably damaging	Het
Fuk	T	C	8: 110,893,259		probably null	Het
Furin	C	T	7: 80,391,284	G602D	probably damaging	Het
Gclm	T	C	3: 122,255,620		probably benign	Het
Gemin4	G	A	11: 76,212,162	T591M	probably benign	Het
Glrx3	T	C	7: 137,453,485	S119P	possibly damaging	Het
Gm16485	G	T	9: 8,972,436		probably benign	Het
Helq	T	C	5: 100,790,200	N460S	probably benign	Het
Hs6st1	G	A	1: 36,069,185		probably null	Het
Kpna2	A	G	11: 106,991,322	L226S	probably damaging	Het
Myom3	G	A	4: 135,778,143	V448M	probably damaging	Het
Nalcn	A	G	14: 123,299,168	S1224P	probably damaging	Het
Olfr1354	A	G	10: 78,917,343	T168A	probably benign	Het
Olfr504	C	T	7: 108,565,514	D94N	probably benign	Het
Olfr666	A	T	7: 104,893,314	F105I	probably damaging	Het
Plag1	C	T	4: 3,904,546	C215Y	probably damaging	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Pot1a	G	A	6: 25,771,680		probably benign	Het
Ppfia1	T	C	7: 144,485,192	D494G	probably damaging	Het
Ppp1r1a	T	A	15: 103,533,488	D51V	probably damaging	Het
Ptprz1	T	A	6: 22,973,176		probably benign	Het
Rad51ap1	A	T	6: 126,934,741	V61D	probably damaging	Het
Reln	G	A	5: 22,048,800	L605F	probably damaging	Het
Riok3	T	C	18: 12,148,949	I325T	probably damaging	Het
Sclt1	A	T	3: 41,661,570		probably null	Het
Slc25a39	A	G	11: 102,406,569	V24A	possibly damaging	Het
Slc9a3	T	G	13: 74,157,607	S248A	probably damaging	Het
Slco6d1	T	A	1: 98,466,697	C369S	probably benign	Het
Spen	T	C	4: 141,516,870	S285G	unknown	Het
Stxbp5l	A	G	16: 37,216,078		probably benign	Het
Thsd7a	G	A	6: 12,352,031	P1055L	probably damaging	Het
Tmed3	C	T	9: 89,699,789	S207N	possibly damaging	Het
Trerf1	G	T	17: 47,341,136		noncoding transcript	Het
Triml1	A	T	8: 43,130,505	V353E	probably damaging	Het
Ttn	G	A	2: 76,719,057	R31759C	probably damaging	Het
Ugt2b37	T	C	5: 87,250,584	Q331R	probably benign	Het
Urb1	A	G	16: 90,791,160	I420T	probably damaging	Het
Vmn1r68	A	T	7: 10,527,274	L299Q	probably damaging	Het
Vmn1r81	T	A	7: 12,259,950	T244S	probably damaging	Het
Vps13a	A	G	19: 16,641,577	F2875S	probably damaging	Het
Wscd1	A	G	11: 71,766,866	M166V	probably damaging	Het
Zfp296	T	C	7: 19,579,939	Y240H	possibly damaging	Het
Zfp462	A	G	4: 55,013,689	H737R	probably damaging	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
R0361:Cfap65	UTSW	1	74925440	missense	probably damaging	1.00
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
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'- CTAGAGATTGCTCAGGCAGGTGTG -3'
(R):5'- TTCAGTCTGGAAGACAGCTTTGGC -3'

Sequencing Primer
(F):5'- CACTCACGAGGTTCTCGTTAGG -3'
(R):5'- ACAGCTTTGGCTGTCTCC -3'

Posted On

2013-04-24