Mutagenetix > Incidental Mutation

Incidental Mutation 'R9127:Cfap65'

726308

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

068926-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.677) question?

Stock #

R9127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74941230-74974758 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 74958510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

probably benign
Transcript: ENSMUST00000094844

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (82/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,242,080 (GRCm39)	D1314E	probably benign	Het
Abcb1a	A	T	5: 8,724,707 (GRCm39)	R47W	probably benign	Het
Abcc6	T	C	7: 45,629,184 (GRCm39)	N1354S	probably damaging	Het
Abracl	T	C	10: 17,887,444 (GRCm39)	Y61C	probably damaging	Het
Adamtsl1	A	G	4: 86,208,027 (GRCm39)	T633A	probably benign	Het
Agap3	G	A	5: 24,681,439 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,400,904 (GRCm39)	M647K	probably damaging	Het
Akap7	G	T	10: 25,155,676 (GRCm39)	S72R	unknown	Het
Arhgef12	A	G	9: 42,885,870 (GRCm39)	L1251S	possibly damaging	Het
Astn2	A	T	4: 66,322,164 (GRCm39)	V145E	unknown	Het
Atxn2l	A	T	7: 126,097,393 (GRCm39)	S304R	probably damaging	Het
Cd226	A	T	18: 89,287,155 (GRCm39)	I318F	probably damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cfap96	T	G	8: 46,415,403 (GRCm39)	D201A	probably benign	Het
Chtf8	A	G	8: 107,613,640 (GRCm39)	V18A	probably benign	Het
Cit	G	T	5: 116,074,896 (GRCm39)	E683*	probably null	Het
Ckmt2	T	C	13: 92,007,337 (GRCm39)	R286G	probably damaging	Het
Clec4a2	T	A	6: 123,116,218 (GRCm39)	W128R	probably damaging	Het
Clec4n	T	G	6: 123,212,447 (GRCm39)	S88A	probably damaging	Het
Cndp2	G	A	18: 84,699,121 (GRCm39)	A48V	probably benign	Het
Csmd1	T	C	8: 16,273,286 (GRCm39)	T849A	probably benign	Het
Cts3	A	T	13: 61,715,235 (GRCm39)	Y199*	probably null	Het
Dag1	A	T	9: 108,085,734 (GRCm39)	L469*	probably null	Het
Dclre1c	T	C	2: 3,439,125 (GRCm39)	V225A		Het
Dedd	A	G	1: 171,166,409 (GRCm39)	D115G	probably damaging	Het
Efcab3	T	A	11: 104,741,407 (GRCm39)	V2166D	probably benign	Het
Eif2ak3	T	A	6: 70,860,704 (GRCm39)	W427R	probably damaging	Het
Fbln2	T	A	6: 91,210,473 (GRCm39)	V139D	probably damaging	Het
Fbn1	A	T	2: 125,223,985 (GRCm39)	M588K	possibly damaging	Het
Gm17019	A	T	5: 15,081,113 (GRCm39)	Y109*	probably null	Het
Gm32742	T	A	9: 51,056,015 (GRCm39)	N1255Y	probably damaging	Het
Gm5431	T	A	11: 48,779,600 (GRCm39)	K441*	probably null	Het
Golga2	A	G	2: 32,196,079 (GRCm39)	D898G		Het
Gramd4	G	A	15: 85,975,525 (GRCm39)	R39H	probably benign	Het
Gucy1a2	A	G	9: 3,634,553 (GRCm39)	N199S	probably damaging	Het
Heyl	G	A	4: 123,139,885 (GRCm39)	R148H	probably damaging	Het
Ifi208	A	T	1: 173,523,400 (GRCm39)	M557L	probably benign	Het
Igf2r	A	G	17: 12,958,238 (GRCm39)	V145A	probably damaging	Het
Ighv1-4	A	T	12: 114,450,879 (GRCm39)	Y76*	probably null	Het
Ikzf4	T	C	10: 128,468,487 (GRCm39)	D664G	unknown	Het
Il1a	T	A	2: 129,146,715 (GRCm39)	Y126F	possibly damaging	Het
Lmf2	C	A	15: 89,239,771 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,808,827 (GRCm39)	S166P	probably damaging	Het
Mgat5	A	C	1: 127,294,197 (GRCm39)	T180P	probably benign	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mov10	G	T	3: 104,711,659 (GRCm39)	Y209*	probably null	Het
Nol8	T	C	13: 49,815,475 (GRCm39)	Y528H	probably benign	Het
Numa1	T	A	7: 101,641,869 (GRCm39)	S106T	possibly damaging	Het
Or1e1d-ps1	A	T	11: 73,819,167 (GRCm39)	E39V	probably damaging	Het
Or4c124	G	A	2: 89,156,474 (GRCm39)	Q17*	probably null	Het
Or5b107	A	G	19: 13,142,396 (GRCm39)	N6S	probably damaging	Het
Or7g27	A	G	9: 19,250,026 (GRCm39)	H90R	probably benign	Het
Pcdhb14	A	G	18: 37,582,091 (GRCm39)	N399S	probably damaging	Het
Plcl2	T	A	17: 50,918,032 (GRCm39)	S944T	probably benign	Het
Pml	A	T	9: 58,127,660 (GRCm39)	I695N	probably benign	Het
Ppard	G	T	17: 28,505,349 (GRCm39)	R12L	unknown	Het
Ppip5k1	C	T	2: 121,158,125 (GRCm39)		probably null	Het
Ppp1r3g	T	C	13: 36,152,621 (GRCm39)	S14P	probably benign	Het
Pramel55	A	G	5: 95,951,623 (GRCm39)	Y470C	probably damaging	Het
Prrc2b	C	A	2: 32,103,764 (GRCm39)	R1081S	probably damaging	Het
Rasgrp2	A	T	19: 6,454,438 (GRCm39)	E160D	possibly damaging	Het
Rb1cc1	G	A	1: 6,333,073 (GRCm39)	V1331I	probably damaging	Het
Rnd3	A	T	2: 51,022,413 (GRCm39)	S210T	probably benign	Het
Scaf11	T	C	15: 96,312,764 (GRCm39)	T1426A	probably benign	Het
Sin3b	C	T	8: 73,460,034 (GRCm39)	T207I	possibly damaging	Het
Slc26a7	A	T	4: 14,593,873 (GRCm39)	Y81N	probably damaging	Het
Slc28a3	C	T	13: 58,724,581 (GRCm39)	M224I	probably benign	Het
Slc30a1	T	C	1: 191,639,342 (GRCm39)	I75T	probably damaging	Het
Slc6a21	T	A	7: 44,929,674 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,945,243 (GRCm39)	L206Q	probably damaging	Het
Spata31d1e	A	G	13: 59,890,828 (GRCm39)	S331P	probably benign	Het
Sptbn1	A	G	11: 30,104,356 (GRCm39)	V116A	probably damaging	Het
Syngap1	G	A	17: 27,181,095 (GRCm39)	D1008N	probably damaging	Het
Syt11	T	C	3: 88,669,643 (GRCm39)	D83G	probably benign	Het
Syt14	G	A	1: 192,584,131 (GRCm39)	T428I	probably damaging	Het
Taf15	T	A	11: 83,395,085 (GRCm39)	Y338*	probably null	Het
Tfap4	A	T	16: 4,365,183 (GRCm39)	M253K	possibly damaging	Het
Tnr	T	C	1: 159,713,680 (GRCm39)	S703P	possibly damaging	Het
Trrap	G	A	5: 144,767,830 (GRCm39)	D2577N	probably benign	Het
Uqcc6	A	T	10: 82,458,588 (GRCm39)	M21K	probably benign	Het
Wdr20	C	T	12: 110,759,597 (GRCm39)	S161L	possibly damaging	Het
Zfp503	C	A	14: 22,037,418 (GRCm39)	V62L	probably benign	Het

Other mutations in Cfap65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Cfap65	APN	1	74,958,342 (GRCm39)	critical splice donor site	probably null
IGL01526:Cfap65	APN	1	74,950,237 (GRCm39)	missense	probably damaging	1.00
IGL01716:Cfap65	APN	1	74,966,353 (GRCm39)	missense	probably benign
IGL01780:Cfap65	APN	1	74,967,507 (GRCm39)	nonsense	probably null
IGL01993:Cfap65	APN	1	74,959,702 (GRCm39)	missense	probably damaging	1.00
IGL02164:Cfap65	APN	1	74,967,304 (GRCm39)	missense	possibly damaging	0.87
IGL02350:Cfap65	APN	1	74,967,507 (GRCm39)	nonsense	probably null
IGL02357:Cfap65	APN	1	74,967,507 (GRCm39)	nonsense	probably null
IGL02576:Cfap65	APN	1	74,942,617 (GRCm39)	missense	probably damaging	1.00
IGL02756:Cfap65	APN	1	74,944,239 (GRCm39)	missense	probably benign	0.00
IGL02792:Cfap65	APN	1	74,966,337 (GRCm39)	missense	probably damaging	1.00
IGL02874:Cfap65	APN	1	74,950,267 (GRCm39)	nonsense	probably null
IGL03101:Cfap65	APN	1	74,967,592 (GRCm39)	missense	possibly damaging	0.61
IGL03348:Cfap65	APN	1	74,966,778 (GRCm39)	missense	probably damaging	1.00
IGL03396:Cfap65	APN	1	74,943,801 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Cfap65	UTSW	1	74,967,501 (GRCm39)	missense	probably benign	0.05
R0077:Cfap65	UTSW	1	74,971,077 (GRCm39)	missense	probably damaging	1.00
R0227:Cfap65	UTSW	1	74,971,117 (GRCm39)	nonsense	probably null
R0281:Cfap65	UTSW	1	74,966,230 (GRCm39)	missense	probably damaging	1.00
R0312:Cfap65	UTSW	1	74,943,226 (GRCm39)	missense	probably damaging	1.00
R0331:Cfap65	UTSW	1	74,968,461 (GRCm39)	missense	probably damaging	1.00
R0331:Cfap65	UTSW	1	74,968,460 (GRCm39)	missense	probably damaging	1.00
R0347:Cfap65	UTSW	1	74,965,603 (GRCm39)	missense	probably damaging	1.00
R0359:Cfap65	UTSW	1	74,959,760 (GRCm39)	missense	probably benign	0.00
R0361:Cfap65	UTSW	1	74,964,599 (GRCm39)	missense	probably damaging	1.00
R0465:Cfap65	UTSW	1	74,956,043 (GRCm39)	missense	possibly damaging	0.92
R0549:Cfap65	UTSW	1	74,957,603 (GRCm39)	missense	probably benign	0.01
R0646:Cfap65	UTSW	1	74,941,328 (GRCm39)	missense	probably benign	0.09
R0734:Cfap65	UTSW	1	74,958,046 (GRCm39)	missense	probably damaging	1.00
R0763:Cfap65	UTSW	1	74,943,841 (GRCm39)	missense	probably damaging	0.99
R0990:Cfap65	UTSW	1	74,960,678 (GRCm39)	missense	possibly damaging	0.60
R1079:Cfap65	UTSW	1	74,944,872 (GRCm39)	missense	probably damaging	0.99
R1079:Cfap65	UTSW	1	74,941,606 (GRCm39)	missense	probably damaging	0.98
R1083:Cfap65	UTSW	1	74,957,663 (GRCm39)	splice site	probably benign
R1159:Cfap65	UTSW	1	74,968,499 (GRCm39)	missense	probably damaging	1.00
R1282:Cfap65	UTSW	1	74,964,263 (GRCm39)	missense	probably benign	0.03
R1644:Cfap65	UTSW	1	74,956,334 (GRCm39)	missense	probably damaging	1.00
R1796:Cfap65	UTSW	1	74,958,107 (GRCm39)	missense	probably damaging	1.00
R1950:Cfap65	UTSW	1	74,946,819 (GRCm39)	missense	probably damaging	1.00
R2079:Cfap65	UTSW	1	74,956,358 (GRCm39)	missense	probably benign	0.30
R2132:Cfap65	UTSW	1	74,946,850 (GRCm39)	missense	probably damaging	1.00
R2136:Cfap65	UTSW	1	74,956,432 (GRCm39)	frame shift	probably null
R2219:Cfap65	UTSW	1	74,943,184 (GRCm39)	missense	probably damaging	1.00
R2220:Cfap65	UTSW	1	74,943,184 (GRCm39)	missense	probably damaging	1.00
R2291:Cfap65	UTSW	1	74,965,634 (GRCm39)	missense	probably damaging	1.00
R2417:Cfap65	UTSW	1	74,966,345 (GRCm39)	small insertion	probably benign
R3114:Cfap65	UTSW	1	74,966,291 (GRCm39)	missense	probably damaging	1.00
R4202:Cfap65	UTSW	1	74,959,701 (GRCm39)	missense	probably damaging	1.00
R4214:Cfap65	UTSW	1	74,966,840 (GRCm39)	missense	possibly damaging	0.93
R4254:Cfap65	UTSW	1	74,942,517 (GRCm39)	missense	probably benign	0.17
R4547:Cfap65	UTSW	1	74,946,771 (GRCm39)	missense	probably damaging	1.00
R4548:Cfap65	UTSW	1	74,946,771 (GRCm39)	missense	probably damaging	1.00
R4588:Cfap65	UTSW	1	74,943,215 (GRCm39)	missense	possibly damaging	0.92
R4657:Cfap65	UTSW	1	74,964,513 (GRCm39)	intron	probably benign
R4701:Cfap65	UTSW	1	74,958,067 (GRCm39)	missense	probably damaging	0.96
R4755:Cfap65	UTSW	1	74,967,520 (GRCm39)	missense	probably damaging	1.00
R4820:Cfap65	UTSW	1	74,966,791 (GRCm39)	missense	probably benign	0.06
R4831:Cfap65	UTSW	1	74,956,454 (GRCm39)	missense	possibly damaging	0.93
R4866:Cfap65	UTSW	1	74,964,716 (GRCm39)	missense	probably damaging	1.00
R4869:Cfap65	UTSW	1	74,958,420 (GRCm39)	missense	probably benign	0.00
R4881:Cfap65	UTSW	1	74,946,772 (GRCm39)	missense	probably damaging	1.00
R4884:Cfap65	UTSW	1	74,942,283 (GRCm39)	missense	possibly damaging	0.47
R4950:Cfap65	UTSW	1	74,945,495 (GRCm39)	nonsense	probably null
R5074:Cfap65	UTSW	1	74,962,137 (GRCm39)	missense	probably benign	0.04
R5083:Cfap65	UTSW	1	74,945,600 (GRCm39)	missense	probably damaging	1.00
R5164:Cfap65	UTSW	1	74,965,675 (GRCm39)	missense	probably damaging	1.00
R5268:Cfap65	UTSW	1	74,964,061 (GRCm39)	missense	probably benign	0.07
R5333:Cfap65	UTSW	1	74,942,334 (GRCm39)	missense	probably benign	0.03
R5417:Cfap65	UTSW	1	74,964,259 (GRCm39)	missense	probably damaging	1.00
R5582:Cfap65	UTSW	1	74,946,677 (GRCm39)	intron	probably benign
R5669:Cfap65	UTSW	1	74,964,127 (GRCm39)	missense	probably damaging	0.99
R6010:Cfap65	UTSW	1	74,962,190 (GRCm39)	missense	probably damaging	1.00
R6084:Cfap65	UTSW	1	74,959,564 (GRCm39)	missense	probably damaging	1.00
R6112:Cfap65	UTSW	1	74,942,298 (GRCm39)	missense	probably benign	0.14
R6425:Cfap65	UTSW	1	74,966,868 (GRCm39)	missense	probably benign	0.00
R6677:Cfap65	UTSW	1	74,943,844 (GRCm39)	missense	probably damaging	1.00
R6693:Cfap65	UTSW	1	74,956,445 (GRCm39)	missense	probably benign	0.00
R6838:Cfap65	UTSW	1	74,971,180 (GRCm39)	missense	probably benign	0.06
R6861:Cfap65	UTSW	1	74,964,274 (GRCm39)	missense	probably damaging	1.00
R6958:Cfap65	UTSW	1	74,971,058 (GRCm39)	missense	possibly damaging	0.58
R7134:Cfap65	UTSW	1	74,965,792 (GRCm39)	missense	probably benign	0.01
R7320:Cfap65	UTSW	1	74,965,763 (GRCm39)	missense	probably damaging	0.99
R7340:Cfap65	UTSW	1	74,960,742 (GRCm39)	missense	probably benign	0.07
R7426:Cfap65	UTSW	1	74,959,585 (GRCm39)	missense	possibly damaging	0.92
R7529:Cfap65	UTSW	1	74,965,769 (GRCm39)	missense	probably damaging	1.00
R7634:Cfap65	UTSW	1	74,941,593 (GRCm39)	missense	probably damaging	1.00
R7654:Cfap65	UTSW	1	74,972,303 (GRCm39)	missense	probably benign	0.44
R7704:Cfap65	UTSW	1	74,967,527 (GRCm39)	missense	probably benign	0.19
R7727:Cfap65	UTSW	1	74,965,784 (GRCm39)	missense	probably benign	0.00
R7895:Cfap65	UTSW	1	74,972,321 (GRCm39)	missense	probably benign	0.05
R8215:Cfap65	UTSW	1	74,949,902 (GRCm39)	missense	probably damaging	1.00
R8344:Cfap65	UTSW	1	74,967,203 (GRCm39)	missense	probably benign	0.01
R8345:Cfap65	UTSW	1	74,967,203 (GRCm39)	missense	probably benign	0.01
R8413:Cfap65	UTSW	1	74,956,328 (GRCm39)	nonsense	probably null
R8431:Cfap65	UTSW	1	74,967,203 (GRCm39)	missense	probably benign	0.01
R8432:Cfap65	UTSW	1	74,967,203 (GRCm39)	missense	probably benign	0.01
R8528:Cfap65	UTSW	1	74,945,096 (GRCm39)	missense	possibly damaging	0.88
R8809:Cfap65	UTSW	1	74,942,382 (GRCm39)	missense	probably benign	0.43
R8996:Cfap65	UTSW	1	74,941,347 (GRCm39)	missense	probably benign	0.11
R9020:Cfap65	UTSW	1	74,959,552 (GRCm39)	missense	probably damaging	1.00
R9043:Cfap65	UTSW	1	74,943,847 (GRCm39)	missense	possibly damaging	0.88
R9187:Cfap65	UTSW	1	74,956,517 (GRCm39)	missense	probably benign	0.00
R9210:Cfap65	UTSW	1	74,959,567 (GRCm39)	missense	probably benign
R9212:Cfap65	UTSW	1	74,959,567 (GRCm39)	missense	probably benign
R9273:Cfap65	UTSW	1	74,960,769 (GRCm39)	missense	probably benign	0.00
R9454:Cfap65	UTSW	1	74,944,210 (GRCm39)	missense	probably damaging	1.00
R9514:Cfap65	UTSW	1	74,945,468 (GRCm39)	critical splice donor site	probably null
R9595:Cfap65	UTSW	1	74,946,537 (GRCm39)	missense	probably damaging	1.00
R9721:Cfap65	UTSW	1	74,958,501 (GRCm39)	missense	probably benign	0.16
R9742:Cfap65	UTSW	1	74,943,840 (GRCm39)	missense	probably benign	0.08
RF009:Cfap65	UTSW	1	74,944,806 (GRCm39)	missense	probably damaging	1.00
Z1176:Cfap65	UTSW	1	74,949,906 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACAGAGAGGCATCCAGTAAC -3'
(R):5'- AGTTCACTTTTCTGAGGCTCCAG -3'

Sequencing Primer
(F):5'- GAGGCATCCAGTAACACCCATG -3'
(R):5'- GAGGCTCCAGTTTCCATCATAATGAG -3'

Posted On

2022-09-30