Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4131001:Cfap65'

523155

Institutional Source

Beutler Lab

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: 0.621) question?

Stock #

PIT4131001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74928342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 192 (N192K)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

probably benign
Transcript: ENSMUST00000094844
AA Change: N192K

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: N192K

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: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

92% (126/137)

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: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	C	T	2: 173,719,806		probably benign	Het
A530032D15Rik	G	A	1: 85,099,620	A75V	probably benign	Het
Alpk2	G	A	18: 65,306,379	H648Y	possibly damaging	Het
Ambp	A	G	4: 63,144,265	Y246H	probably damaging	Het
Amz1	T	C	5: 140,749,333		probably null	Het
Anks6	G	A	4: 47,027,109	T703I	probably damaging	Het
Armc2	A	G	10: 41,947,887		probably benign	Het
Atp7b	T	A	8: 21,994,656	I1347F	probably damaging	Het
Atp8a1	C	T	5: 67,622,602	W1149*	probably null	Het
Auh	A	G	13: 52,841,010	I173T	probably damaging	Het
AW822073	A	G	10: 58,223,454	C493R	probably benign	Het
AW822073	G	A	10: 58,224,314		probably benign	Het
AW822073	C	T	10: 58,224,882	E17K	possibly damaging	Het
Axin2	T	C	11: 108,924,003	L239P	possibly damaging	Het
Bbs1	A	T	19: 4,899,259	F257L	possibly damaging	Het
C130026I21Rik	A	C	1: 85,245,674		probably benign	Het
Cacna2d2	C	T	9: 107,524,668	P774L	probably damaging	Het
Card6	A	G	15: 5,108,306	L22P	probably damaging	Het
Ccdc171	C	T	4: 83,661,709			Het
Cdc14a	T	A	3: 116,328,661	N219I	possibly damaging	Het
Col14a1	T	C	15: 55,448,876		probably benign	Het
Col5a1	A	G	2: 28,024,653	T94A	probably benign	Het
Col6a5	T	C	9: 105,881,914	N2031S	probably damaging	Het
Col7a1	T	C	9: 108,965,921		probably benign	Het
Ctgf	T	C	10: 24,596,090	V70A	probably damaging	Het
Cyld	T	C	8: 88,746,915	S739P	probably damaging	Het
Dbr1	A	G	9: 99,584,019		probably null	Het
Dip2b	T	C	15: 100,202,352	L1267P	probably damaging	Het
Dolk	A	G	2: 30,285,574	M153T	probably benign	Het
Duxf3	A	C	10: 58,231,676	S27A	probably benign	Het
Eef1d	C	T	15: 75,903,732	R26H	probably benign	Homo
Efcab5	C	T	11: 77,137,691			Het
Epc1	T	C	18: 6,449,246	D467G	probably damaging	Het
Fancm	T	G	12: 65,105,422	M884R	probably benign	Het
Fbxo24	G	T	5: 137,621,902	H15N	probably damaging	Het
Frem1	A	G	4: 83,005,808	F305L	probably damaging	Het
Fstl5	A	G	3: 76,659,699	D550G	probably damaging	Het
Gcnt3	T	G	9: 70,034,044	K414T	possibly damaging	Het
Gm10471	A	T	5: 26,086,487	F107Y	probably benign	Het
Gm10471	C	G	5: 26,089,095	W28C	probably damaging	Het
Gm10718	A	T	9: 3,024,417	T134S	probably benign	Het
Gm10722	A	G,C	9: 3,001,414		probably benign	Het
Gm10800	A	C	2: 98,666,548	F220C	probably benign	Het
Gm10800	T	C	2: 98,666,818	R152G	probably benign	Homo
Gm10800	C	A	2: 98,666,905	V123F	probably benign	Homo
Gm10801	A	G	2: 98,662,303	R23G	probably benign	Homo
Gm11168	C	T	9: 3,004,605	P49S	probably benign	Het
Gm21677	T	C	Y: 3,297,411	H235R	probably benign	Het
Gm21693	C	T	Y: 3,328,944	A241T	possibly damaging	Het
Gm21738	G	A	14: 19,417,330	S66L	probably benign	Het
Gm4064	T	A	Y: 2,787,132	N228Y	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG	T	1: 88,266,278		probably benign	Het
Hmgcr	A	G	13: 96,659,054	Y336H	probably damaging	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Homo
Hoxa13	G	C	6: 52,260,648		probably benign	Homo
Igf2bp3	A	C	6: 49,117,150		probably null	Het
Kcnb2	A	T	1: 15,312,976	K175N	possibly damaging	Het
Kdr	T	C	5: 75,941,971		probably benign	Het
Kif5c	A	G	2: 49,694,032	K160E	probably damaging	Het
Kif7	A	T	7: 79,711,069	V186E	probably damaging	Het
Krt16	T	A	11: 100,248,749	T48S	unknown	Het
Liph	T	C	16: 21,995,369	M1V	probably null	Het
Mctp2	A	G	7: 72,090,257	F795S	probably damaging	Het
Muc4	C	G	16: 32,755,676		probably benign	Homo
Muc4	T	A	16: 32,755,684		probably benign	Homo
Muc4	T	A	16: 32,755,699		probably benign	Homo
Myo15	G	T	11: 60,483,127	A1267S	probably damaging	Het
Myo15	T	C	11: 60,495,454	Y1802H	probably damaging	Het
Myo7b	G	A	18: 31,961,206	T1963I	probably benign	Het
Nadk2	TG	T	15: 9,100,143		probably null	Homo
Naip5	T	C	13: 100,219,739	R1123G	probably benign	Het
Naip5	T	C	13: 100,219,760	N1116D	probably benign	Het
Nap1l1	A	G	10: 111,486,722	D61G	probably null	Het
Napsa	A	T	7: 44,581,451	T81S	probably damaging	Het
Ngp	T	C	9: 110,422,269		probably benign	Het
Nktr	T	A	9: 121,741,621	V143E	probably damaging	Het
Obscn	A	G	11: 59,067,064		probably null	Het
Olfr1115	G	A	2: 87,252,629	A231T	probably benign	Het
Olfr1305	G	A	2: 111,873,304	L184F	probably benign	Het
Olfr266	T	C	3: 106,821,966	I198V	probably benign	Het
Olfr414	A	G	1: 174,430,824	Y132C	probably damaging	Het
Olfr597	C	T	7: 103,320,869	R153*	probably null	Het
Olfr653	G	A	7: 104,580,030	R128Q	probably damaging	Het
Paip2b	A	G	6: 83,808,841	Y136H	probably damaging	Het
Pde2a	G	T	7: 101,511,154	R845L	probably damaging	Het
Pgap2	A	G	7: 102,237,198	Y197C	possibly damaging	Het
Phf11b	A	G	14: 59,323,162		probably benign	Het
Pitpnm2	A	T	5: 124,131,115	D481E	probably benign	Het
Pxk	A	T	14: 8,152,130	H482L	probably benign	Het
Rad50	A	G	11: 53,694,899		probably null	Het
Rnf220	A	G	4: 117,277,369		probably null	Het
Selenbp1	C	T	3: 94,937,296	T88M	probably damaging	Het
Sft2d1	T	C	17: 8,391,031	I104T	possibly damaging	Het
Sik1	A	G	17: 31,851,331	S135P	probably damaging	Het
Slc16a3	T	C	11: 120,955,346	F34L	probably damaging	Het
Slc6a20b	T	C	9: 123,612,126	N85S	probably benign	Homo
Snrnp27	T	C	6: 86,682,911	R34G	unknown	Het
Sos2	T	C	12: 69,618,077	H393R	probably benign	Het
Sp110	C	T	1: 85,586,250	R262Q	probably benign	Het
Sp110	T	C	1: 85,586,254	R261G	probably benign	Het
Sp140	T	A	1: 85,601,172	Y5N	probably benign	Het
Sp140	G	C	1: 85,610,882	K113N	probably benign	Het
Sp140	A	G	1: 85,643,221	S461G	probably benign	Het
Ssrp1	G	A	2: 85,038,416	V40M	probably damaging	Het
Tada2a	T	C	11: 84,079,737	E202G	probably damaging	Het
Tcf20	C	A	15: 82,851,584	A1889S	probably damaging	Het
Tdrd12	A	T	7: 35,481,103	Y828*	probably null	Het
Tex45	T	A	8: 3,476,062	S72T	possibly damaging	Het
Tlr2	T	A	3: 83,838,449	D109V	probably benign	Het
Tomm40	G	A	7: 19,703,091	T17M	probably damaging	Het
Tsga10ip	T	C	19: 5,390,133	T135A	possibly damaging	Het
Tspan8	G	A	10: 115,817,610	V4M	probably damaging	Het
Ttc28	A	T	5: 110,892,853	T36S	probably benign	Het
Ugt1a6b	TTCA	T	1: 88,216,158		probably benign	Het
Ugt1a6b	G	A	1: 88,216,254	A199T	probably damaging	Het
Ugt1a6b	G	A	1: 88,218,390	R519Q	probably damaging	Het
Unc45a	A	G	7: 80,326,361	M790T	possibly damaging	Het
Vav3	T	C	3: 109,664,435		probably null	Het
Vcpkmt	G	A	12: 69,582,778	S70L	probably benign	Het
Vmn1r3	C	T	4: 3,184,691	M205I	probably damaging	Het
Vmn1r3	C	T	4: 3,184,774	V178I	probably benign	Het
Vmn2r66	T	C	7: 84,995,093	Q703R	probably damaging	Het
Vmn2r98	G	T	17: 19,080,961	V742F	probably benign	Het
Wfdc8	A	G	2: 164,597,776	S229P	possibly damaging	Het
Xpo4	A	T	14: 57,584,611	C1083S	probably null	Het
Zbtb38	T	C	9: 96,686,316	D905G	probably damaging	Het
Zbtb8b	A	G	4: 129,427,515	*518Q	probably null	Het
Zfp600	TC	T	4: 146,195,232		probably null	Het
Zfp992	C	T	4: 146,466,112	P97S	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
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

Predicted Primers

PCR Primer
(F):5'- ACTTCCCAGGTGAAGAAGGTG -3'
(R):5'- AAGTGGAATGTCCTGACTCTTACC -3'

Sequencing Primer
(F):5'- TGAAGAAGGTGGGCAGGTCC -3'
(R):5'- GGAATGTCCTGACTCTTACCTGAAC -3'

Posted On

2018-06-12