Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02164:Cfap65'

282614

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

IGL02164

Quality Score

Status

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74928145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 215 (T215K)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094844
AA Change: T215K

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

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: T215K

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

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024P04Rik	T	C	13: 98,984,207	K104E	probably damaging	Het
4930578C19Rik	T	A	X: 18,418,953	R421*	probably null	Het
5730480H06Rik	T	A	5: 48,380,182	V187E	probably benign	Het
Abcc12	T	A	8: 86,527,404	D917V	probably damaging	Het
Abhd15	A	T	11: 77,516,014	E272D	probably benign	Het
Adat3	T	A	10: 80,606,627	S100T	probably benign	Het
Adgrg6	T	C	10: 14,523,555		probably benign	Het
Alpl	C	T	4: 137,753,979	V121M	probably damaging	Het
Ano1	A	T	7: 144,637,181	Y388N	possibly damaging	Het
Arrdc4	C	T	7: 68,739,537		probably benign	Het
Asxl2	A	G	12: 3,502,079	M1274V	probably benign	Het
BC048403	A	G	10: 121,750,770	Y194C	probably damaging	Het
Bmt2	G	T	6: 13,628,879	N268K	possibly damaging	Het
Bpifb2	C	A	2: 153,883,562	L176M	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cd14	T	C	18: 36,725,785	R206G	possibly damaging	Het
Chd9	T	C	8: 90,933,221	S270P	possibly damaging	Het
Cidea	C	T	18: 67,366,511	S156L	probably damaging	Het
Col5a3	A	G	9: 20,792,643		probably null	Het
Cspg5	T	C	9: 110,251,036	V424A	probably damaging	Het
Ctc1	A	G	11: 69,026,096	H272R	probably damaging	Het
D5Ertd579e	A	T	5: 36,614,959	S697R	probably damaging	Het
Dennd3	T	C	15: 73,544,448	S516P	probably benign	Het
Dlgap4	G	A	2: 156,711,139	R509H	probably damaging	Het
Dus3l	T	C	17: 56,767,943		probably benign	Het
Dync1h1	G	T	12: 110,662,559	W4183C	probably damaging	Het
Eif2s3x	A	T	X: 94,205,072	M152K	possibly damaging	Het
Epb41l1	C	T	2: 156,494,949		probably benign	Het
Ephx2	A	G	14: 66,103,720		probably benign	Het
Fabp12	T	A	3: 10,246,015	Y129F	probably damaging	Het
Fat3	A	G	9: 16,031,424		probably benign	Het
Fat4	T	C	3: 38,996,205		probably null	Het
Gnb1	T	A	4: 155,557,174		probably null	Het
Gpr107	C	A	2: 31,178,286	Y253*	probably null	Het
Grb10	C	T	11: 11,943,962	E320K	probably damaging	Het
Gucy2g	G	T	19: 55,238,023	H154N	probably benign	Het
Hemk1	T	A	9: 107,331,536	H154L	probably benign	Het
Hk2	A	T	6: 82,743,939		probably null	Het
Htr5a	A	G	5: 27,842,465	N6S	probably damaging	Het
Htra3	T	C	5: 35,653,066	D424G	probably benign	Het
Ift52	A	G	2: 163,025,464		probably null	Het
Igdcc4	A	G	9: 65,124,782		probably benign	Het
Itpr1	A	G	6: 108,389,483	K124E	probably benign	Het
Kcnc2	T	A	10: 112,455,685	N259K	possibly damaging	Het
Lmod2	A	T	6: 24,603,910	I295F	possibly damaging	Het
Lrp1	T	C	10: 127,563,667	E2324G	probably benign	Het
Lss	T	C	10: 76,536,260	S150P	probably damaging	Het
Macf1	T	C	4: 123,480,272	N1515S	probably benign	Het
Mapk11	T	C	15: 89,145,448		probably null	Het
Mc3r	T	A	2: 172,249,394	F179I	probably damaging	Het
Mtmr9	T	A	14: 63,530,288	N291Y	probably damaging	Het
Myo1h	T	C	5: 114,334,096	F396L	probably damaging	Het
Nek2	A	G	1: 191,827,304	K307R	probably benign	Het
Olfr102	C	A	17: 37,313,687	M232I	probably benign	Het
Osmr	G	A	15: 6,842,048	T296I	probably damaging	Het
Pcdhb11	T	G	18: 37,423,359	S581A	probably benign	Het
Pfkp	C	T	13: 6,597,915	V542M	probably damaging	Het
Pmpca	C	T	2: 26,395,569	S519L	probably benign	Het
Ptgds	A	T	2: 25,469,112	Y44N	probably damaging	Het
Raly	T	A	2: 154,859,929	Y116*	probably null	Het
Rock2	A	G	12: 16,965,529	D809G	probably damaging	Het
Sgsm2	T	G	11: 74,865,416	N369T	possibly damaging	Het
Slc6a15	A	G	10: 103,418,222	D673G	probably benign	Het
Spire2	A	T	8: 123,332,964	D67V	probably damaging	Het
St7l	T	C	3: 104,922,281		probably null	Het
Stau2	A	G	1: 16,345,828	L469P	probably damaging	Het
Tefm	A	G	11: 80,140,089	L107S	probably damaging	Het
Ticam1	A	T	17: 56,270,019	V692D	unknown	Het
Tipin	T	A	9: 64,294,349	D143E	probably damaging	Het
Tmem132c	C	A	5: 127,536,377	T448K	probably damaging	Het
Trav8-1	A	T	14: 53,469,756	M1L	unknown	Het
Ttn	C	A	2: 76,738,797	V27251F	probably damaging	Het
Uvrag	A	T	7: 99,004,689	C31*	probably null	Het
Zap70	T	C	1: 36,771,186	Y126H	probably damaging	Het
Zfp644	A	G	5: 106,638,099	V194A	probably benign	Het
Zfp663	C	T	2: 165,359,048	W22*	probably null	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
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
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
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

Posted On

2015-04-16