Mutagenetix > Incidental Mutation

Incidental Mutation 'R0465:Cfap65'

41547

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

038665-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

R0465 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74916884 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1093 (R1093C)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094844
AA Change: R1093C

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: R1093C

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	A	G	2: 148,783,425 (GRCm38)	N93S	probably benign	Het
Adgre4	T	A	17: 55,785,137 (GRCm38)		probably benign	Het
Ankrd13a	T	A	5: 114,804,234 (GRCm38)	I526N	probably damaging	Het
Aox1	G	A	1: 58,062,207 (GRCm38)	V446I	probably damaging	Het
Arid1b	G	A	17: 4,996,260 (GRCm38)	G441D	possibly damaging	Het
BC027072	A	G	17: 71,750,160 (GRCm38)	C841R	probably benign	Het
Bdkrb2	A	T	12: 105,591,859 (GRCm38)	N120Y	possibly damaging	Het
Bud31	G	A	5: 145,146,586 (GRCm38)	V80I	probably damaging	Het
Camkmt	T	A	17: 85,431,522 (GRCm38)	F225L	probably damaging	Het
Carf	T	C	1: 60,131,983 (GRCm38)	M200T	probably damaging	Het
Carmil3	T	C	14: 55,499,861 (GRCm38)	L767P	probably damaging	Het
Cdk14	T	A	5: 5,093,019 (GRCm38)	R237S	probably damaging	Het
Cdx2	C	A	5: 147,306,473 (GRCm38)	K170N	possibly damaging	Het
Cnot8	T	A	11: 58,114,060 (GRCm38)	V195E	probably damaging	Het
Copa	T	C	1: 172,118,305 (GRCm38)	F936S	probably damaging	Het
Dnaic1	T	A	4: 41,629,988 (GRCm38)		probably null	Het
Dsel	T	C	1: 111,862,262 (GRCm38)	N181S	probably benign	Het
Enpp7	A	G	11: 118,988,781 (GRCm38)	N87S	probably damaging	Het
Fads1	C	T	19: 10,183,065 (GRCm38)	P5L	probably benign	Het
G3bp1	T	C	11: 55,498,626 (GRCm38)	F383L	probably damaging	Het
Gm12695	T	C	4: 96,785,075 (GRCm38)	Y29C	probably damaging	Het
Gm5592	T	A	7: 41,156,057 (GRCm38)		probably benign	Het
Gmnc	T	G	16: 26,962,952 (GRCm38)	N109T	probably damaging	Het
Gstcd	A	G	3: 132,983,144 (GRCm38)	I615T	probably benign	Het
Hal	A	C	10: 93,516,284 (GRCm38)	K646Q	probably benign	Het
Hbs1l	A	G	10: 21,352,041 (GRCm38)	I472V	probably null	Het
Ift27	A	T	15: 78,173,758 (GRCm38)		probably benign	Het
Iqub	A	T	6: 24,503,784 (GRCm38)	I163N	probably damaging	Het
Isg20l2	T	A	3: 87,931,680 (GRCm38)	V66E	probably benign	Het
Itgb4	T	C	11: 115,979,756 (GRCm38)	M137T	probably damaging	Het
Lca5	T	A	9: 83,395,867 (GRCm38)	K475*	probably null	Het
Lyve1	A	G	7: 110,852,827 (GRCm38)		probably null	Het
Map3k19	T	C	1: 127,838,527 (GRCm38)	D220G	probably damaging	Het
Mdn1	T	A	4: 32,699,204 (GRCm38)		probably benign	Het
Mmp15	T	C	8: 95,367,998 (GRCm38)	W167R	probably damaging	Het
Ms4a13	A	G	19: 11,172,593 (GRCm38)	C135R	probably benign	Het
Myh1	A	G	11: 67,210,417 (GRCm38)	H673R	possibly damaging	Het
Myrf	G	C	19: 10,218,162 (GRCm38)	T428S	probably benign	Het
Oas2	A	G	5: 120,735,055 (GRCm38)	I645T	probably damaging	Het
Olfr605	A	T	7: 103,442,835 (GRCm38)	F96Y	possibly damaging	Het
Pard3b	T	G	1: 62,211,718 (GRCm38)		probably benign	Het
Patj	T	A	4: 98,535,507 (GRCm38)		probably null	Het
Pkd1l3	G	A	8: 109,623,663 (GRCm38)	S380N	probably benign	Het
Pkd1l3	C	G	8: 109,623,649 (GRCm38)	D375E	possibly damaging	Het
Rab34	C	A	11: 78,190,511 (GRCm38)	C67*	probably null	Het
Rimbp3	T	C	16: 17,211,780 (GRCm38)	S1023P	possibly damaging	Het
Rnf148	T	C	6: 23,654,685 (GRCm38)	N104S	probably benign	Het
Rpa1	T	C	11: 75,313,095 (GRCm38)	T288A	probably damaging	Het
Scn9a	A	G	2: 66,526,996 (GRCm38)	L976P	probably damaging	Het
Serpina12	T	A	12: 104,037,845 (GRCm38)	D176V	probably benign	Het
Sik1	C	T	17: 31,855,022 (GRCm38)	V10I	possibly damaging	Het
Sntb1	C	A	15: 55,749,276 (GRCm38)	R302L	probably benign	Het
Stambp	A	G	6: 83,570,339 (GRCm38)	I56T	probably benign	Het
Tac2	A	G	10: 127,729,170 (GRCm38)		probably benign	Het
Tecta	A	T	9: 42,359,418 (GRCm38)	I1198K	possibly damaging	Het
Tfip11	C	T	5: 112,333,264 (GRCm38)	R369C	probably benign	Het
Tnpo1	A	G	13: 98,884,634 (GRCm38)	I79T	probably damaging	Het
Ttll5	A	T	12: 85,933,326 (GRCm38)	N895Y	probably benign	Het
Ube2u	T	A	4: 100,532,096 (GRCm38)		probably benign	Het
Ubxn4	G	A	1: 128,262,904 (GRCm38)	E256K	probably benign	Het
Vmn2r1	T	C	3: 64,081,759 (GRCm38)	S40P	possibly damaging	Het
Vmn2r100	G	A	17: 19,531,530 (GRCm38)	V612I	probably damaging	Het
Vmn2r59	G	T	7: 42,046,908 (GRCm38)	H137N	probably benign	Het
Vsig10l	T	C	7: 43,467,442 (GRCm38)	V467A	probably damaging	Het
Vwde	A	G	6: 13,215,806 (GRCm38)		probably benign	Het
Xrra1	T	A	7: 99,879,371 (GRCm38)	D139E	probably benign	Het
Zc3h15	T	C	2: 83,663,815 (GRCm38)		probably benign	Het
Zfhx4	C	T	3: 5,245,656 (GRCm38)		probably benign	Het
Zscan18	A	G	7: 12,775,486 (GRCm38)		probably benign	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
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	74,902,447 (GRCm38)	missense	probably damaging	0.98
R1079:Cfap65	UTSW	1	74,905,713 (GRCm38)	missense	probably damaging	0.99
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
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'- GTTTCCCAGGAAGACCCAGGAAATG -3'
(R):5'- ACACCCTCAATAGTTACTTGGCACG -3'

Sequencing Primer
(F):5'- AAATGGCTCTTCCCTGGGAC -3'
(R):5'- TTTCCCAAGAAGCTGAGTCG -3'

Posted On

2013-05-23