Mutagenetix > Incidental Mutation

Incidental Mutation 'R7340:Cfap65'

569738

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

045430-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

R7340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74921583 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 743 (N743D)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

probably benign
Transcript: ENSMUST00000094844
AA Change: N743D

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: N743D

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: 99.1%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,277,615	T1788A	unknown	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Adam30	A	T	3: 98,162,321	N490I	probably benign	Het
Ankrd55	A	T	13: 112,355,963	I223F	probably damaging	Het
Ano8	T	A	8: 71,483,011	E321V	probably damaging	Het
Apc2	A	G	10: 80,313,482	K1457E	probably benign	Het
Asb15	T	A	6: 24,558,514	V38E	probably benign	Het
Atp4a	T	C	7: 30,716,730	S417P	possibly damaging	Het
AY358078	A	G	14: 51,826,259	N454S	probably damaging	Het
Cables2	A	G	2: 180,261,657	Y245H		Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,321,318		probably benign	Het
Camsap3	G	A	8: 3,587,960		probably null	Het
Ccdc178	A	T	18: 22,017,461	V705E	probably benign	Het
Ccdc47	T	C	11: 106,200,973	Q472R	possibly damaging	Het
Ccdc62	A	G	5: 123,951,220	D307G	probably damaging	Het
Cd3eap	T	C	7: 19,359,148	T36A	probably benign	Het
Cdh23	A	G	10: 60,530,996	I235T	probably benign	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Clec16a	A	G	16: 10,580,963	N329S	probably null	Het
Col25a1	A	G	3: 130,546,357		probably null	Het
Daam1	T	G	12: 71,988,939	D969E	probably benign	Het
Dntt	A	C	19: 41,058,565		probably null	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Dst	T	A	1: 34,190,729	Y2468N	probably benign	Het
Exosc9	A	G	3: 36,561,148	T262A	possibly damaging	Het
Exph5	G	A	9: 53,377,009	A1797T	probably damaging	Het
Fbp2	A	T	13: 62,837,247	Y287N	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Fus	T	A	7: 127,981,951		probably null	Het
Galnt9	T	A	5: 110,614,188	N397K	probably damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gga1	A	G	15: 78,891,451	T369A	probably benign	Het
Gp1ba	T	C	11: 70,640,293	I295T	unknown	Het
Hk2	T	C	6: 82,728,892	E810G	probably benign	Het
Igsf10	A	G	3: 59,325,768	V1848A	probably damaging	Het
Insrr	G	A	3: 87,814,316		probably null	Het
Ip6k3	T	A	17: 27,148,530	M231L	probably benign	Het
Itgb8	T	C	12: 119,192,204	N171S	probably benign	Het
Ldlrad3	T	C	2: 102,066,839		probably null	Het
Ltbp1	T	A	17: 75,327,228	C886*	probably null	Het
Mettl13	T	C	1: 162,538,978	D444G	probably benign	Het
Mgea5	G	A	19: 45,767,456	Q583*	probably null	Het
Mns1	A	G	9: 72,448,743	Y224C	probably damaging	Het
Mri1	C	T	8: 84,256,896	R122Q	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo5c	A	C	9: 75,289,141	K1290Q	probably benign	Het
Nlrp12	T	G	7: 3,233,125	Q842H	possibly damaging	Het
Odf3b	T	A	15: 89,378,407	T116S	probably benign	Het
Olfr1167	T	C	2: 88,149,276	T248A	possibly damaging	Het
Olfr301	T	C	7: 86,412,749	L129P	possibly damaging	Het
Olfr31	A	T	14: 14,328,401	T97S	possibly damaging	Het
Olfr761	T	A	17: 37,952,522	R167S	probably benign	Het
Otoa	A	G	7: 121,130,065	T554A	probably benign	Het
Per1	A	G	11: 69,103,182	D438G	probably damaging	Het
Phactr3	G	A	2: 178,334,061	R533H	probably damaging	Het
Phykpl	T	C	11: 51,599,543	F417S	probably damaging	Het
Pole	A	T	5: 110,334,464	T2057S	probably benign	Het
Polq	A	G	16: 37,060,926	T1151A	probably benign	Het
Rbm26	A	T	14: 105,152,540	V216E	possibly damaging	Het
Ryk	T	C	9: 102,898,538	I449T	probably damaging	Het
Sap25	A	G	5: 137,642,673	T225A	probably benign	Het
Sart3	A	G	5: 113,744,667	M864T	probably benign	Het
Sec31b	T	C	19: 44,528,722	S280G	probably benign	Het
Sema4d	A	T	13: 51,723,562	I78N	probably damaging	Het
Sgip1	G	C	4: 102,921,464	R419S	unknown	Het
Slc13a3	T	C	2: 165,430,290	I278V	probably benign	Het
Slc2a5	A	G	4: 150,139,982	D312G	probably benign	Het
Slc39a2	A	T	14: 51,894,203	Q77L	possibly damaging	Het
Srbd1	A	T	17: 86,136,354	V148E	probably benign	Het
Syngr2	A	G	11: 117,812,496	E46G	probably damaging	Het
Taok1	A	G	11: 77,579,817	V54A	possibly damaging	Het
Tas2r106	T	A	6: 131,678,222	H222L	probably damaging	Het
Tcaf3	A	G	6: 42,589,914	I747T	probably benign	Het
Tmem151b	G	T	17: 45,545,269	P415Q	probably benign	Het
Tmf1	T	C	6: 97,168,100	D659G	possibly damaging	Het
Tnn	G	T	1: 160,146,022	D258E	probably damaging	Het
Traj33	A	G	14: 54,185,405	I16V	unknown	Het
Ttll13	G	T	7: 80,257,024	C480F	probably damaging	Het
Ttn	T	C	2: 76,884,071	N8137S	unknown	Het
Vmn1r85	T	C	7: 13,085,146	N24D	probably damaging	Het
Wdr81	T	C	11: 75,444,699	Q649R	probably null	Het
Zan	T	C	5: 137,383,830	T5152A	unknown	Het
Zc3h6	A	G	2: 128,993,190	D82G	possibly 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
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'- ACAAATTGTGGTGGCCTGAAG -3'
(R):5'- CAGCATCATCCAAACCTGGG -3'

Sequencing Primer
(F):5'- GTAAAGGCCCAGTTCCTCTAC -3'
(R):5'- GTGGGCCCCAAATGTGTATC -3'

Posted On

2019-09-13