Mutagenetix > Incidental Mutation

Incidental Mutation 'R7654:Cfap65'

591037

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

045702-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

R7654 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74933144 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 19 (C19S)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

probably benign
Transcript: ENSMUST00000094844
AA Change: C19S

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: C19S

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

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,826,593	V1140M	possibly damaging	Het
Adamtsl3	A	C	7: 82,574,494	E1161A	probably benign	Het
Adcy5	T	C	16: 35,270,947	S587P	probably damaging	Het
Aebp2	T	A	6: 140,653,748		probably null	Het
Alb	G	C	5: 90,467,355	R242P	probably damaging	Het
Ankhd1	T	C	18: 36,594,101	V423A	probably damaging	Het
Arid1b	T	A	17: 5,291,085	M888K	possibly damaging	Het
Asl	C	A	5: 130,018,390	R122S	probably damaging	Het
B3gntl1	T	A	11: 121,651,613	D109V	probably damaging	Het
Cat	G	A	2: 103,460,364	P402S	probably damaging	Het
Ccdc141	A	T	2: 77,042,478	Y787N	probably benign	Het
Ccdc78	T	C	17: 25,790,111	Y405H	probably damaging	Het
Ces1f	T	G	8: 93,271,934	K145Q	probably benign	Het
CN725425	T	A	15: 91,239,435	I118N	probably benign	Het
Ctc1	C	T	11: 69,026,215	P312S	probably damaging	Het
Ctsa	C	T	2: 164,838,933	T442I	probably benign	Het
Cyp2b9	A	G	7: 26,186,942	T131A	possibly damaging	Het
D630045J12Rik	A	G	6: 38,177,701	M1181T	probably damaging	Het
Dagla	C	G	19: 10,248,206	G865R	probably benign	Het
Dst	A	T	1: 34,228,978	K3153M	probably damaging	Het
Dst	A	C	1: 34,228,977	K3153Q	probably damaging	Het
Dync2h1	A	T	9: 7,122,664	H2097Q	probably damaging	Het
Etnppl	A	G	3: 130,629,511	I286M	probably benign	Het
Flvcr1	A	T	1: 191,011,605	M418K	possibly damaging	Het
Fuca1	T	C	4: 135,929,921	S215P	probably damaging	Het
Gabrg1	T	C	5: 70,778,161	K222E	probably benign	Het
Gdpd5	G	A	7: 99,424,189	R26H	probably damaging	Het
Gnptab	T	A	10: 88,445,819	S1229R	possibly damaging	Het
Gpt	A	G	15: 76,698,330	E256G	probably benign	Het
Hif3a	C	T	7: 17,049,096	V261I	probably damaging	Het
Hmcn2	A	G	2: 31,346,569	T375A	probably benign	Het
Hspa4	C	A	11: 53,300,124	V15F	probably damaging	Het
Il18	A	G	9: 50,579,401	N112S	possibly damaging	Het
Inpp4a	A	G	1: 37,374,098		probably null	Het
Knop1	A	G	7: 118,845,809	S525P	unknown	Het
Leo1	A	T	9: 75,455,679	Y461F	possibly damaging	Het
Med1	C	T	11: 98,169,363	V247I	possibly damaging	Het
Mpnd	T	G	17: 56,010,489	H159Q	probably benign	Het
Msl1	A	G	11: 98,796,111	E94G	possibly damaging	Het
Mthfd2l	A	T	5: 90,946,806	I45F	probably damaging	Het
Neurl1b	T	A	17: 26,438,697	L203Q	probably benign	Het
Olfr1024	G	T	2: 85,904,319	T245N	possibly damaging	Het
Otoa	T	G	7: 121,147,700	L896R	probably damaging	Het
Pcdhac2	T	A	18: 37,145,023	V352E	probably damaging	Het
Pcsk5	T	A	19: 17,456,804	K1400I	possibly damaging	Het
Pcx	T	A	19: 4,515,669		probably null	Het
Pds5a	A	G	5: 65,618,981	V90A	probably damaging	Het
Pgam2	T	C	11: 5,803,351	K113R	probably null	Het
Phkb	G	T	8: 85,940,887	R266L	possibly damaging	Het
Phtf2	A	G	5: 20,782,461	S346P	probably damaging	Het
Pkd1l3	G	A	8: 109,638,417	A1144T	probably damaging	Het
Plbd1	T	C	6: 136,651,866	Y68C	possibly damaging	Het
Polk	T	C	13: 96,496,813	T241A	probably benign	Het
Ppfibp2	T	A	7: 107,738,611	D635E	probably damaging	Het
Ppip5k1	G	A	2: 121,348,559	R229W	probably damaging	Het
Ptpn20	A	G	14: 33,638,324	D386G	probably benign	Het
Rab22a	T	C	2: 173,688,175	Y49H	probably benign	Het
Rab3gap1	A	G	1: 127,909,915	D238G	probably damaging	Het
Rbp3	T	C	14: 33,955,840	S582P	probably benign	Het
Rcbtb2	T	C	14: 73,174,501	V410A	probably benign	Het
Sh3rf2	A	G	18: 42,104,108	E232G	probably damaging	Het
Shroom1	T	A	11: 53,466,908	V762E	probably benign	Het
Speer4f2	A	T	5: 17,374,415	M71L		Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,317,519		probably benign	Het
Tgfb1	A	T	7: 25,687,695		probably benign	Het
Tnik	C	T	3: 28,604,185	R540C	probably damaging	Het
Tti1	A	T	2: 158,008,554	I255N	probably benign	Het
Ttn	T	C	2: 76,897,146	S5739G	unknown	Het
Umad1	G	A	6: 8,426,995	V57M	probably damaging	Het
Usp30	T	A	5: 114,102,445	I49N	probably damaging	Het
Usp7	G	A	16: 8,702,043	T398I	probably benign	Het
Vmn2r65	A	G	7: 84,941,053	Y552H	probably damaging	Het
Zfp616	A	G	11: 74,083,187	N185S	possibly damaging	Het
Zfp804b	T	A	5: 6,769,458	T1202S	probably damaging	Het
Zfyve28	A	T	5: 34,243,195	V53D	probably damaging	Het

Other mutations in Cfap65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Cfap65	APN	1	74,919,183 (GRCm38)	critical splice donor site	probably null
IGL01526:Cfap65	APN	1	74,911,078 (GRCm38)	missense	probably damaging	1.00
IGL01716:Cfap65	APN	1	74,927,194 (GRCm38)	missense	probably benign
IGL01780:Cfap65	APN	1	74,928,348 (GRCm38)	nonsense	probably null
IGL01993:Cfap65	APN	1	74,920,543 (GRCm38)	missense	probably damaging	1.00
IGL02164:Cfap65	APN	1	74,928,145 (GRCm38)	missense	possibly damaging	0.87
IGL02350:Cfap65	APN	1	74,928,348 (GRCm38)	nonsense	probably null
IGL02357:Cfap65	APN	1	74,928,348 (GRCm38)	nonsense	probably null
IGL02576:Cfap65	APN	1	74,903,458 (GRCm38)	missense	probably damaging	1.00
IGL02756:Cfap65	APN	1	74,905,080 (GRCm38)	missense	probably benign	0.00
IGL02792:Cfap65	APN	1	74,927,178 (GRCm38)	missense	probably damaging	1.00
IGL02874:Cfap65	APN	1	74,911,108 (GRCm38)	nonsense	probably null
IGL03101:Cfap65	APN	1	74,928,433 (GRCm38)	missense	possibly damaging	0.61
IGL03348:Cfap65	APN	1	74,927,619 (GRCm38)	missense	probably damaging	1.00
IGL03396:Cfap65	APN	1	74,904,642 (GRCm38)	missense	probably damaging	1.00
PIT4131001:Cfap65	UTSW	1	74,928,342 (GRCm38)	missense	probably benign	0.05
R0077:Cfap65	UTSW	1	74,931,918 (GRCm38)	missense	probably damaging	1.00
R0227:Cfap65	UTSW	1	74,931,958 (GRCm38)	nonsense	probably null
R0281:Cfap65	UTSW	1	74,927,071 (GRCm38)	missense	probably damaging	1.00
R0312:Cfap65	UTSW	1	74,904,067 (GRCm38)	missense	probably damaging	1.00
R0331:Cfap65	UTSW	1	74,929,302 (GRCm38)	missense	probably damaging	1.00
R0331:Cfap65	UTSW	1	74,929,301 (GRCm38)	missense	probably damaging	1.00
R0347:Cfap65	UTSW	1	74,926,444 (GRCm38)	missense	probably damaging	1.00
R0359:Cfap65	UTSW	1	74,920,601 (GRCm38)	missense	probably benign	0.00
R0361:Cfap65	UTSW	1	74,925,440 (GRCm38)	missense	probably damaging	1.00
R0465:Cfap65	UTSW	1	74,916,884 (GRCm38)	missense	possibly damaging	0.92
R0549:Cfap65	UTSW	1	74,918,444 (GRCm38)	missense	probably benign	0.01
R0646:Cfap65	UTSW	1	74,902,169 (GRCm38)	missense	probably benign	0.09
R0734:Cfap65	UTSW	1	74,918,887 (GRCm38)	missense	probably damaging	1.00
R0763:Cfap65	UTSW	1	74,904,682 (GRCm38)	missense	probably damaging	0.99
R0990:Cfap65	UTSW	1	74,921,519 (GRCm38)	missense	possibly damaging	0.60
R1079:Cfap65	UTSW	1	74,905,713 (GRCm38)	missense	probably damaging	0.99
R1079:Cfap65	UTSW	1	74,902,447 (GRCm38)	missense	probably damaging	0.98
R1083:Cfap65	UTSW	1	74,918,504 (GRCm38)	splice site	probably benign
R1159:Cfap65	UTSW	1	74,929,340 (GRCm38)	missense	probably damaging	1.00
R1282:Cfap65	UTSW	1	74,925,104 (GRCm38)	missense	probably benign	0.03
R1644:Cfap65	UTSW	1	74,917,175 (GRCm38)	missense	probably damaging	1.00
R1796:Cfap65	UTSW	1	74,918,948 (GRCm38)	missense	probably damaging	1.00
R1950:Cfap65	UTSW	1	74,907,660 (GRCm38)	missense	probably damaging	1.00
R2079:Cfap65	UTSW	1	74,917,199 (GRCm38)	missense	probably benign	0.30
R2132:Cfap65	UTSW	1	74,907,691 (GRCm38)	missense	probably damaging	1.00
R2136:Cfap65	UTSW	1	74,917,273 (GRCm38)	frame shift	probably null
R2219:Cfap65	UTSW	1	74,904,025 (GRCm38)	missense	probably damaging	1.00
R2220:Cfap65	UTSW	1	74,904,025 (GRCm38)	missense	probably damaging	1.00
R2291:Cfap65	UTSW	1	74,926,475 (GRCm38)	missense	probably damaging	1.00
R2417:Cfap65	UTSW	1	74,927,186 (GRCm38)	small insertion	probably benign
R3114:Cfap65	UTSW	1	74,927,132 (GRCm38)	missense	probably damaging	1.00
R4202:Cfap65	UTSW	1	74,920,542 (GRCm38)	missense	probably damaging	1.00
R4214:Cfap65	UTSW	1	74,927,681 (GRCm38)	missense	possibly damaging	0.93
R4254:Cfap65	UTSW	1	74,903,358 (GRCm38)	missense	probably benign	0.17
R4547:Cfap65	UTSW	1	74,907,612 (GRCm38)	missense	probably damaging	1.00
R4548:Cfap65	UTSW	1	74,907,612 (GRCm38)	missense	probably damaging	1.00
R4588:Cfap65	UTSW	1	74,904,056 (GRCm38)	missense	possibly damaging	0.92
R4657:Cfap65	UTSW	1	74,925,354 (GRCm38)	intron	probably benign
R4701:Cfap65	UTSW	1	74,918,908 (GRCm38)	missense	probably damaging	0.96
R4755:Cfap65	UTSW	1	74,928,361 (GRCm38)	missense	probably damaging	1.00
R4820:Cfap65	UTSW	1	74,927,632 (GRCm38)	missense	probably benign	0.06
R4831:Cfap65	UTSW	1	74,917,295 (GRCm38)	missense	possibly damaging	0.93
R4866:Cfap65	UTSW	1	74,925,557 (GRCm38)	missense	probably damaging	1.00
R4869:Cfap65	UTSW	1	74,919,261 (GRCm38)	missense	probably benign	0.00
R4881:Cfap65	UTSW	1	74,907,613 (GRCm38)	missense	probably damaging	1.00
R4884:Cfap65	UTSW	1	74,903,124 (GRCm38)	missense	possibly damaging	0.47
R4950:Cfap65	UTSW	1	74,906,336 (GRCm38)	nonsense	probably null
R5074:Cfap65	UTSW	1	74,922,978 (GRCm38)	missense	probably benign	0.04
R5083:Cfap65	UTSW	1	74,906,441 (GRCm38)	missense	probably damaging	1.00
R5164:Cfap65	UTSW	1	74,926,516 (GRCm38)	missense	probably damaging	1.00
R5268:Cfap65	UTSW	1	74,924,902 (GRCm38)	missense	probably benign	0.07
R5333:Cfap65	UTSW	1	74,903,175 (GRCm38)	missense	probably benign	0.03
R5417:Cfap65	UTSW	1	74,925,100 (GRCm38)	missense	probably damaging	1.00
R5582:Cfap65	UTSW	1	74,907,518 (GRCm38)	intron	probably benign
R5669:Cfap65	UTSW	1	74,924,968 (GRCm38)	missense	probably damaging	0.99
R6010:Cfap65	UTSW	1	74,923,031 (GRCm38)	missense	probably damaging	1.00
R6084:Cfap65	UTSW	1	74,920,405 (GRCm38)	missense	probably damaging	1.00
R6112:Cfap65	UTSW	1	74,903,139 (GRCm38)	missense	probably benign	0.14
R6425:Cfap65	UTSW	1	74,927,709 (GRCm38)	missense	probably benign	0.00
R6677:Cfap65	UTSW	1	74,904,685 (GRCm38)	missense	probably damaging	1.00
R6693:Cfap65	UTSW	1	74,917,286 (GRCm38)	missense	probably benign	0.00
R6838:Cfap65	UTSW	1	74,932,021 (GRCm38)	missense	probably benign	0.06
R6861:Cfap65	UTSW	1	74,925,115 (GRCm38)	missense	probably damaging	1.00
R6958:Cfap65	UTSW	1	74,931,899 (GRCm38)	missense	possibly damaging	0.58
R7134:Cfap65	UTSW	1	74,926,633 (GRCm38)	missense	probably benign	0.01
R7320:Cfap65	UTSW	1	74,926,604 (GRCm38)	missense	probably damaging	0.99
R7340:Cfap65	UTSW	1	74,921,583 (GRCm38)	missense	probably benign	0.07
R7426:Cfap65	UTSW	1	74,920,426 (GRCm38)	missense	possibly damaging	0.92
R7529:Cfap65	UTSW	1	74,926,610 (GRCm38)	missense	probably damaging	1.00
R7634:Cfap65	UTSW	1	74,902,434 (GRCm38)	missense	probably damaging	1.00
R7704:Cfap65	UTSW	1	74,928,368 (GRCm38)	missense	probably benign	0.19
R7727:Cfap65	UTSW	1	74,926,625 (GRCm38)	missense	probably benign	0.00
R7895:Cfap65	UTSW	1	74,933,162 (GRCm38)	missense	probably benign	0.05
R8215:Cfap65	UTSW	1	74,910,743 (GRCm38)	missense	probably damaging	1.00
R8344:Cfap65	UTSW	1	74,928,044 (GRCm38)	missense	probably benign	0.01
R8345:Cfap65	UTSW	1	74,928,044 (GRCm38)	missense	probably benign	0.01
R8413:Cfap65	UTSW	1	74,917,169 (GRCm38)	nonsense	probably null
R8431:Cfap65	UTSW	1	74,928,044 (GRCm38)	missense	probably benign	0.01
R8432:Cfap65	UTSW	1	74,928,044 (GRCm38)	missense	probably benign	0.01
R8528:Cfap65	UTSW	1	74,905,937 (GRCm38)	missense	possibly damaging	0.88
R8809:Cfap65	UTSW	1	74,903,223 (GRCm38)	missense	probably benign	0.43
R8996:Cfap65	UTSW	1	74,902,188 (GRCm38)	missense	probably benign	0.11
R9020:Cfap65	UTSW	1	74,920,393 (GRCm38)	missense	probably damaging	1.00
R9043:Cfap65	UTSW	1	74,904,688 (GRCm38)	missense	possibly damaging	0.88
R9127:Cfap65	UTSW	1	74,919,351 (GRCm38)	splice site	probably benign
R9187:Cfap65	UTSW	1	74,917,358 (GRCm38)	missense	probably benign	0.00
R9210:Cfap65	UTSW	1	74,920,408 (GRCm38)	missense	probably benign
R9212:Cfap65	UTSW	1	74,920,408 (GRCm38)	missense	probably benign
R9273:Cfap65	UTSW	1	74,921,610 (GRCm38)	missense	probably benign	0.00
R9454:Cfap65	UTSW	1	74,905,051 (GRCm38)	missense	probably damaging	1.00
R9514:Cfap65	UTSW	1	74,906,309 (GRCm38)	critical splice donor site	probably null
R9595:Cfap65	UTSW	1	74,907,378 (GRCm38)	missense	probably damaging	1.00
R9721:Cfap65	UTSW	1	74,919,342 (GRCm38)	missense	probably benign	0.16
R9742:Cfap65	UTSW	1	74,904,681 (GRCm38)	missense	probably benign	0.08
RF009:Cfap65	UTSW	1	74,905,647 (GRCm38)	missense	probably damaging	1.00
Z1176:Cfap65	UTSW	1	74,910,747 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTGTATATGGGAAAGTCTGTCCC -3'
(R):5'- GCGCCACCTCATAGCAATAG -3'

Sequencing Primer
(F):5'- CCCAGACGTTCACCCTATTGTACTG -3'
(R):5'- TAGCACTTGTCAAAACAGAGAGC -3'

Posted On

2019-11-12