Mutagenetix > Incidental Mutation

Incidental Mutation 'R8345:Cfap65'

645131

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

067801-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

R8345 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74928044 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 249 (G249R)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

probably benign
Transcript: ENSMUST00000094844
AA Change: G249R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: G249R

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: 99.6%
20x: 98.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	A	6: 129,325,630 (GRCm38)	N145Y	probably damaging	Het
9530053A07Rik	G	A	7: 28,155,360 (GRCm38)	V1804M	probably damaging	Het
Acsf3	T	C	8: 122,781,545 (GRCm38)	V260A	probably benign	Het
Adgrv1	T	C	13: 81,103,386 (GRCm38)	D6204G	probably damaging	Het
Ago3	T	A	4: 126,376,928 (GRCm38)	K258*	probably null	Het
Aspm	T	G	1: 139,464,273 (GRCm38)	Y787*	probably null	Het
Atp8b5	A	C	4: 43,291,714 (GRCm38)	D29A	probably benign	Het
Bdh2	A	T	3: 135,295,252 (GRCm38)	I128F	probably damaging	Het
Bmper	T	A	9: 23,224,830 (GRCm38)	M69K	probably benign	Het
Ccdc7a	C	T	8: 128,798,764 (GRCm38)	M1415I	probably benign	Het
Ccpg1	G	A	9: 73,005,719 (GRCm38)	R179H	probably damaging	Het
Cdc23	G	A	18: 34,634,097 (GRCm38)	T564I	probably benign	Het
Cemip	T	A	7: 83,942,165 (GRCm38)		probably null	Het
Cpsf1	T	A	15: 76,601,490 (GRCm38)	T435S	probably benign	Het
Dennd5a	T	C	7: 109,905,270 (GRCm38)	T879A	possibly damaging	Het
Diaph3	G	A	14: 86,829,093 (GRCm38)	Q955*	probably null	Het
Disp2	G	A	2: 118,810,803 (GRCm38)	V298M	unknown	Het
Dnah1	C	A	14: 31,264,594 (GRCm38)	D3671Y	probably damaging	Het
Dnmt3a	T	C	12: 3,835,234 (GRCm38)	S13P	unknown	Het
Eci3	G	A	13: 34,948,181 (GRCm38)	T228I	probably damaging	Het
Ecm2	T	C	13: 49,520,800 (GRCm38)	L232P	probably benign	Het
Ednra	G	A	8: 77,689,184 (GRCm38)	R145C	probably damaging	Het
Faap100	G	T	11: 120,377,030 (GRCm38)	H306N	possibly damaging	Het
Fam8a1	T	A	13: 46,673,578 (GRCm38)	I275K	probably damaging	Het
Fat3	C	A	9: 15,999,274 (GRCm38)	V1811L	probably benign	Het
Fbn2	C	T	18: 58,058,431 (GRCm38)	C1540Y	probably damaging	Het
Ffar3	A	G	7: 30,855,364 (GRCm38)	L177P	probably damaging	Het
Fmnl1	A	G	11: 103,186,614 (GRCm38)	T267A	possibly damaging	Het
Fsip1	T	C	2: 118,240,471 (GRCm38)	E246G	probably damaging	Het
Gemin4	A	G	11: 76,210,779 (GRCm38)	L1052P	probably damaging	Het
Gp2	C	T	7: 119,442,787 (GRCm38)	C505Y	probably benign	Het
Grm5	A	T	7: 88,074,538 (GRCm38)	I679F	probably damaging	Het
Hapln1	A	T	13: 89,584,783 (GRCm38)	D21V	probably benign	Het
Jak2	T	C	19: 29,284,870 (GRCm38)	S364P	probably damaging	Het
Kansl3	A	G	1: 36,348,816 (GRCm38)		probably null	Het
Kntc1	T	C	5: 123,786,930 (GRCm38)	L1102S	probably benign	Het
Mbd3l2	A	G	9: 18,444,483 (GRCm38)	I35V	probably benign	Het
Mdfic	G	T	6: 15,799,654 (GRCm38)	C260F	probably damaging	Het
Mroh2b	T	C	15: 4,944,326 (GRCm38)	S1109P	probably benign	Het
Myocd	A	T	11: 65,187,132 (GRCm38)	C612*	probably null	Het
Olfr1053	A	T	2: 86,315,107 (GRCm38)	Y60N	probably damaging	Het
Olfr1189	A	G	2: 88,592,091 (GRCm38)	M96V	probably benign	Het
Olfr1293-ps	T	A	2: 111,527,519 (GRCm38)	C86*	probably null	Het
Olfr142	A	T	2: 90,252,217 (GRCm38)	M257K	possibly damaging	Het
Olfr153	A	T	2: 87,532,347 (GRCm38)	T105S	probably benign	Het
Olfr652	T	A	7: 104,564,224 (GRCm38)	M1K	probably null	Het
Pard3	C	T	8: 127,324,068 (GRCm38)	R204W	probably damaging	Het
Per1	T	A	11: 69,107,556 (GRCm38)	N1031K	possibly damaging	Het
Plekhh3	A	G	11: 101,164,279 (GRCm38)	S583P	unknown	Het
Pramef8	C	T	4: 143,416,868 (GRCm38)	T68I	probably benign	Het
Prex2	T	A	1: 11,199,894 (GRCm38)	C1268S	possibly damaging	Het
Prpf6	T	C	2: 181,650,158 (GRCm38)	I756T	probably benign	Het
Pum2	T	C	12: 8,709,454 (GRCm38)	V98A	probably damaging	Het
Rad50	A	T	11: 53,684,141 (GRCm38)	S652T	probably benign	Het
Rfng	G	T	11: 120,784,075 (GRCm38)	P30T	unknown	Het
Rfx7	T	C	9: 72,617,691 (GRCm38)	I721T	probably benign	Het
Rpf1	G	T	3: 146,507,676 (GRCm38)	T240K	probably benign	Het
Ryr3	T	C	2: 112,652,925 (GRCm38)	N4189S	probably benign	Het
Samd15	G	C	12: 87,201,438 (GRCm38)	R299T	probably benign	Het
Scn3a	A	G	2: 65,498,991 (GRCm38)	M765T	possibly damaging	Het
Scn9a	G	A	2: 66,494,622 (GRCm38)	S1396L	probably damaging	Het
Sec24a	C	T	11: 51,743,778 (GRCm38)	R107Q	probably benign	Het
Sema4b	T	A	7: 80,220,819 (GRCm38)	V505E	probably damaging	Het
Siglec1	T	A	2: 131,078,578 (GRCm38)	T769S	possibly damaging	Het
Sit1	T	C	4: 43,483,168 (GRCm38)	E69G	possibly damaging	Het
Slc12a8	C	A	16: 33,550,951 (GRCm38)	D121E	probably benign	Het
Slc30a10	A	T	1: 185,455,467 (GRCm38)	Q135L	probably benign	Het
Suox	A	G	10: 128,671,331 (GRCm38)	V276A	probably benign	Het
Tbc1d9b	A	G	11: 50,149,832 (GRCm38)	D392G	probably damaging	Het
Tmed5	A	G	5: 108,125,957 (GRCm38)	W139R	probably damaging	Het
Tnks1bp1	C	T	2: 85,062,882 (GRCm38)	T389I	possibly damaging	Het
Vmn1r65	A	T	7: 6,008,257 (GRCm38)	I326K	probably benign	Het
Vmn2r43	A	G	7: 8,253,602 (GRCm38)	S421P	possibly damaging	Het
Vmn2r57	A	T	7: 41,427,544 (GRCm38)	N399K	possibly damaging	Het
Vmn2r90	T	A	17: 17,712,865 (GRCm38)	L229*	probably null	Het
Vwf	A	T	6: 125,679,302 (GRCm38)	D2610V		Het
Zfp646	C	T	7: 127,883,910 (GRCm38)	S1753L	probably benign	Het
Zfy2	C	A	Y: 2,107,096 (GRCm38)	V513F	possibly damaging	Het
Zranb2	A	T	3: 157,546,094 (GRCm38)	I317F	unknown	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
R7654:Cfap65	UTSW	1	74,933,144 (GRCm38)	missense	probably benign	0.44
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
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'- AGACCGTGTATCGTGTGTCC -3'
(R):5'- ACTCCCTCACTCTTAGGGAC -3'

Sequencing Primer
(F):5'- TCTACCACTGGGAGGGATAGTC -3'
(R):5'- TCACTCTTAGGGACCTGCC -3'

Posted On

2020-09-02