Mutagenetix > Incidental Mutation

Incidental Mutation 'R7426:Cfap65'

576031

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.584) question?

Stock #

R7426 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74920426 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 855 (V855A)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094844
AA Change: V855A

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: V855A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (114/118)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	A	7: 120,345,998	N432K	possibly damaging	Het
Adamtsl5	G	A	10: 80,344,859	T123I	probably benign	Het
Aff4	T	C	11: 53,372,875	S241P	probably damaging	Het
Agl	A	G	3: 116,758,755	L510P		Het
Aox2	A	T	1: 58,289,983	K196*	probably null	Het
Arhgef37	A	G	18: 61,504,385	L402P	probably damaging	Het
Arid4b	T	C	13: 14,181,306		probably null	Het
Atp5f1	A	G	3: 105,943,802	V193A	probably benign	Het
Atp8b3	A	G	10: 80,529,629		probably null	Het
Baz2a	G	T	10: 128,116,078	R555L	probably damaging	Het
Casp4	G	T	9: 5,321,345	S32I	possibly damaging	Het
Cd300lb	A	G	11: 114,928,302	V167A	probably damaging	Het
Cdc42bpg	C	T	19: 6,318,398	T1042I	probably damaging	Het
Ceacam20	T	C	7: 19,970,234	F70S	probably damaging	Het
Cep162	C	T	9: 87,192,766	V1388I	probably damaging	Het
Chil3	G	T	3: 106,155,706	D189E	probably benign	Het
Cln3	A	G	7: 126,581,740	I43T	probably benign	Het
Cntnap5a	A	G	1: 116,442,380	Q909R	probably benign	Het
Ctsd	C	A	7: 142,383,541	A77S	probably damaging	Het
Dnah12	T	A	14: 26,724,626	S781T	probably benign	Het
Dnah17	T	A	11: 118,090,717	Q1716L	probably null	Het
Dock3	C	A	9: 106,895,583	M490I	probably benign	Het
Erg	T	C	16: 95,459,156		probably null	Het
Fam206a	A	G	4: 56,804,230	I82V	probably null	Het
Farp2	A	T	1: 93,621,228	M1019L	possibly damaging	Het
Fcgbp	A	G	7: 28,086,524	K462R	probably benign	Het
Fn1	A	T	1: 71,649,225	N173K	probably damaging	Het
Fsip2	A	T	2: 82,980,097	L2253F	probably damaging	Het
Gabrd	C	T	4: 155,385,513	R413H	possibly damaging	Het
Galnt5	A	T	2: 58,017,139	D538V	probably damaging	Het
Gje1	T	A	10: 14,716,479	L186F	probably damaging	Het
Gm16686	A	T	4: 88,755,326	C89S	unknown	Het
Gna15	G	T	10: 81,502,997	A336E	probably benign	Het
Golga4	C	T	9: 118,559,495	S1895L	probably benign	Het
Gon4l	A	T	3: 88,907,522	M1933L	probably benign	Het
Gpr183	T	C	14: 121,954,744	S122G	possibly damaging	Het
Gtf2h4	G	A	17: 35,669,358	T348I	probably damaging	Het
Hace1	T	C	10: 45,605,540	Y120H	probably damaging	Het
Hivep2	C	T	10: 14,131,317	H1220Y	possibly damaging	Het
Hmx2	T	C	7: 131,554,503	F66S	probably benign	Het
Hoxd12	A	T	2: 74,675,225	S47C	possibly damaging	Het
Hp	C	A	8: 109,575,200		probably null	Het
Idh3a	T	A	9: 54,601,208	D355E	probably benign	Het
Itga2b	A	T	11: 102,456,294	M921K	probably benign	Het
Jcad	A	G	18: 4,675,529	D1097G	probably benign	Het
Kdm5b	A	T	1: 134,595,833	T249S	probably benign	Het
Klhl11	G	T	11: 100,464,352	H214Q	probably benign	Het
L3hypdh	A	T	12: 72,084,931	Y76N	probably damaging	Het
Lama4	G	T	10: 39,045,755	R424L	possibly damaging	Het
Lepr	A	G	4: 101,745,656	I214V	probably benign	Het
Lipc	G	T	9: 70,802,168	N432K	probably benign	Het
Lipm	C	T	19: 34,116,198	A216V	possibly damaging	Het
Lrrc23	A	G	6: 124,779,125	S2P	unknown	Het
Lyst	T	A	13: 13,637,524	D840E	probably benign	Het
Mmp23	T	A	4: 155,651,584	T204S	probably damaging	Het
Mms19	T	C	19: 41,948,278	T785A	probably benign	Het
Mov10	A	T	3: 104,800,052		probably null	Het
Mtf2	A	G	5: 108,100,970	T383A	probably benign	Het
Myo5c	G	A	9: 75,251,527		probably null	Het
Nfxl1	A	T	5: 72,524,174	C671*	probably null	Het
Npepps	A	G	11: 97,213,156	V813A	probably benign	Het
Nrn1	C	A	13: 36,726,851	W69L	probably damaging	Het
Olfr231	A	C	1: 174,117,187	F276L	probably benign	Het
Olfr543	A	T	7: 102,477,676	Y65N	probably damaging	Het
Olfr656	C	T	7: 104,617,852	H58Y	probably damaging	Het
Olfr663	T	A	7: 104,703,589	D7E	probably benign	Het
Olfr694	T	A	7: 106,689,210	I174F	possibly damaging	Het
Olfr771	A	G	10: 129,160,751	Y78H	possibly damaging	Het
Olfr799	T	C	10: 129,647,158	I10T	probably damaging	Het
Oprd1	A	C	4: 132,114,067	D193E	probably benign	Het
Pcdhac1	G	T	18: 37,092,497	V788L	probably benign	Het
Pcdhb11	G	A	18: 37,423,260	V548M	probably damaging	Het
Pde4c	A	T	8: 70,748,972	E517V	possibly damaging	Het
Pdzd7	T	C	19: 45,033,647	R521G	possibly damaging	Het
Pik3c2a	T	A	7: 116,372,854	K780N	probably damaging	Het
Plb1	T	G	5: 32,321,247		probably null	Het
Plcb4	T	A	2: 136,000,219	L1041Q	probably benign	Het
Pnpla6	G	A	8: 3,516,540		probably null	Het
Ppat	A	T	5: 76,915,979	N441K	probably damaging	Het
Ppp1r1b	G	A	11: 98,355,479	A132T	probably damaging	Het
Prl2c2	A	C	13: 12,997,480		probably null	Het
Prr14	T	C	7: 127,475,286	I330T	probably benign	Het
Pycr1	T	C	11: 120,642,923	D36G	probably benign	Het
Rabep2	T	A	7: 126,438,719	I221N	probably damaging	Het
Rad23b	A	G	4: 55,370,469	D165G	probably benign	Het
Reln	G	A	5: 21,971,953	T1905I	probably damaging	Het
Ripor2	T	C	13: 24,694,205	V321A	probably benign	Het
Rnf43	A	G	11: 87,731,852	D466G	probably benign	Het
Rpl6	A	T	5: 121,205,592	R63W	possibly damaging	Het
S100a14	A	G	3: 90,528,204	T102A	probably benign	Het
Samd11	C	A	4: 156,249,400	V195L	probably benign	Het
Scaper	G	A	9: 55,762,277	Q372*	probably null	Het
Sec14l5	G	T	16: 5,180,875	C593F	probably damaging	Het
Sema6d	T	C	2: 124,654,158	Y41H	probably damaging	Het
Serac1	G	A	17: 6,069,314	R114W	probably damaging	Het
Slc12a4	T	C	8: 105,950,836	E388G	probably benign	Het
Smarcd3	T	C	5: 24,595,812	T164A	probably benign	Het
Smtn	C	A	11: 3,530,249	R324L	probably benign	Het
Spata31d1c	C	T	13: 65,035,361	P239L	probably benign	Het
Srcap	T	C	7: 127,538,517	V1013A	possibly damaging	Het
Sv2b	T	C	7: 75,124,064	N553S	probably damaging	Het
Tex35	T	A	1: 157,105,086	N52I	probably damaging	Het
Ticrr	T	C	7: 79,693,986	S1200P	probably benign	Het
Tmem19	A	G	10: 115,347,699	L125P	probably damaging	Het
Trio	A	G	15: 27,856,107	V666A	probably benign	Het
Ttn	T	C	2: 76,917,283	D4474G	probably benign	Het
Usp43	A	T	11: 67,893,016	S368T	possibly damaging	Het
Vmn2r72	T	A	7: 85,751,140	M234L	probably benign	Het
Wdr93	T	A	7: 79,777,307		probably null	Het
Wrap73	T	A	4: 154,156,127	W359R	probably damaging	Het
Ywhah	A	G	5: 33,026,641	I63V	probably benign	Het
Zbtb7b	G	T	3: 89,381,059	P151T	probably damaging	Het
Zfp318	A	G	17: 46,400,069	N906S	probably damaging	Het
Zfp423	C	A	8: 87,780,713	C1001F	probably damaging	Het
Zmym1	A	G	4: 127,049,398	I399T	possibly damaging	Het
Zmynd15	G	A	11: 70,462,188	G296D	probably benign	Het
Znfx1	T	A	2: 167,048,555	I670F	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
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
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'- GTTTGACTAAAGCCCACTTGCAG -3'
(R):5'- CAAGAGGTCATGGCATTGTCC -3'

Sequencing Primer
(F):5'- TAAAGCCCACTTGCAGGCTAGG -3'
(R):5'- TCCTCTGGCTCAGGAAGTG -3'

Posted On

2019-10-07