Mutagenetix > Incidental Mutation

Incidental Mutation 'R9454:Cfap65'

714436

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: 0.621) question?

Stock #

R9454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74905051 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1504 (Y1504N)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

probably damaging
Transcript: ENSMUST00000094844
AA Change: Y1504N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: Y1504N

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: 99.9%
10x: 99.7%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	T	18: 61,818,996	H431Q	possibly damaging	Het
Adam25	A	T	8: 40,754,449	I251F	probably damaging	Het
Ankrd31	A	T	13: 96,780,334	T119S	probably damaging	Het
Ankrd31	T	C	13: 96,780,338	V120A	possibly damaging	Het
Anks6	T	C	4: 47,016,789	E809G	possibly damaging	Het
Arhgap21	A	T	2: 20,865,342	S928T	probably damaging	Het
Arhgef10l	G	T	4: 140,580,925	S39*	probably null	Het
Aspm	G	A	1: 139,480,994	E2540K	probably benign	Het
Atp10a	T	C	7: 58,658,591	I46T	probably benign	Het
Atp13a5	C	A	16: 29,314,520	V483L	possibly damaging	Het
BC028528	T	C	3: 95,889,770	D29G	possibly damaging	Het
Ccdc187	T	A	2: 26,276,102	T772S	possibly damaging	Het
Ccnh	G	A	13: 85,202,402	A199T	probably benign	Het
Ckap2	C	A	8: 22,175,883	E383*	probably null	Het
Clec4n	T	C	6: 123,235,573	V116A	possibly damaging	Het
Cmc2	G	T	8: 116,889,811	D58E	unknown	Het
Cntn6	A	G	6: 104,804,347	K465E	possibly damaging	Het
Col6a6	G	A	9: 105,783,860	A350V	probably damaging	Het
Cps1	A	G	1: 67,180,152	I884V	probably damaging	Het
E2f7	C	T	10: 110,784,681	A853V	probably benign	Het
E330034G19Rik	A	T	14: 24,296,792	Q114L	unknown	Het
Egfr	G	T	11: 16,887,155	G632V	probably damaging	Het
Fam98b	T	C	2: 117,249,769	M1T	probably null	Het
Fcgr2b	T	A	1: 170,961,088	I317F	probably damaging	Het
Galntl6	T	C	8: 57,958,401	D265G	probably damaging	Het
Gm35911	C	T	5: 99,923,093	P76S	probably damaging	Het
Gm4922	A	G	10: 18,784,581	L131P	probably damaging	Het
H1fnt	T	C	15: 98,256,942	I109V	probably benign	Het
H2-Q1	A	T	17: 35,321,373	I145F	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Ica1	A	T	6: 8,667,288	S293T	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Magi2	G	T	5: 20,466,178	V507F	probably damaging	Het
Malrd1	T	C	2: 15,752,849	I978T	unknown	Het
Malrd1	G	A	2: 15,797,726	W1083*	probably null	Het
Mgarp	T	C	3: 51,396,481	T10A	probably damaging	Het
Mtnr1a	A	G	8: 45,085,575	I17V		Het
Muc5ac	C	T	7: 141,808,694	T1914I	unknown	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Nav3	T	C	10: 110,000,003	T73A	probably benign	Het
Olfr1053	A	T	2: 86,314,834	Y151N	probably damaging	Het
Olfr1270	A	C	2: 90,149,476	C177G	probably damaging	Het
Pclo	T	A	5: 14,712,438	S357T	probably benign	Het
Pkdrej	T	A	15: 85,818,219	N1172I	probably benign	Het
Psmb9	G	A	17: 34,183,104	R173C	probably benign	Het
Ralgapb	T	A	2: 158,473,152	H1146Q	probably benign	Het
Raph1	T	A	1: 60,489,594	Q836L	unknown	Het
Rcc1	A	G	4: 132,334,763	S280P	probably damaging	Het
Recql	T	C	6: 142,374,891	M144V	possibly damaging	Het
Rela	T	C	19: 5,645,340	I298T	probably damaging	Het
Rfc1	T	A	5: 65,274,431	I792F		Het
Rnf31	A	G	14: 55,596,152	E539G		Het
Rrp9	T	C	9: 106,483,641	S274P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,923		probably benign	Het
Scmh1	A	G	4: 120,515,079	I360V	probably benign	Het
Sh3yl1	T	C	12: 30,940,421		probably null	Het
Shisa9	T	C	16: 11,984,659	S27P	probably benign	Het
Slc17a4	A	G	13: 23,901,927	V359A	probably benign	Het
Slfn5	C	A	11: 82,960,059	A394E	probably benign	Het
Sun3	A	G	11: 9,038,281	F14L	probably benign	Het
Surf1	A	T	2: 26,914,796	D148E	possibly damaging	Het
Syne2	A	G	12: 76,020,501	K4325E	probably damaging	Het
Syne2	A	T	12: 76,095,070	K1388*	probably null	Het
Tacr1	A	G	6: 82,554,872	M250V	probably damaging	Het
Tenm2	T	C	11: 36,221,459	T420A	probably benign	Het
Tm7sf3	C	A	6: 146,618,543	A282S	probably benign	Het
Tmf1	T	C	6: 97,178,905	E40G	probably benign	Het
Tnfrsf12a	A	G	17: 23,676,517		probably null	Het
Ttc30a2	T	A	2: 75,976,468	I567F	probably benign	Het
Unc80	C	A	1: 66,695,590	H3325Q	possibly damaging	Het
Zfp142	A	G	1: 74,569,857	L1593S	probably damaging	Het
Zfp869	T	A	8: 69,706,591	Y444F	probably benign	Het
Zscan10	G	A	17: 23,607,645		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
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
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
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'- ATCCCATTGTCAGTGGGTCC -3'
(R):5'- TCACTTGGCTGAGCAGGTTTTC -3'

Sequencing Primer
(F):5'- CCCCGGCCCAGCTCTTTAG -3'
(R):5'- CCAAGTGGCCCTTACCTAGG -3'

Posted On

2022-06-15