Mutagenetix > Incidental Mutation

Incidental Mutation 'R8344:Cfap65'

645058

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

R8344 (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: 99.7%
20x: 99.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	T	19: 31,911,119 (GRCm38)	Y83F	possibly damaging	Het
Adgre1	C	G	17: 57,408,459 (GRCm38)	Q260E	probably benign	Het
Adgrf4	T	A	17: 42,666,908 (GRCm38)	M515L	probably benign	Het
Adgrl2	A	T	3: 148,859,525 (GRCm38)	C140S	probably damaging	Het
Ago3	T	A	4: 126,376,928 (GRCm38)	K258*	probably null	Het
Ampd1	A	T	3: 103,095,686 (GRCm38)	E573V	possibly damaging	Het
Atxn7l3b	T	A	10: 112,928,662 (GRCm38)	I21F	possibly damaging	Het
Bckdha	C	T	7: 25,631,447 (GRCm38)	R298H	probably damaging	Het
Cacng3	A	C	7: 122,768,346 (GRCm38)	I150L	possibly damaging	Het
Ccdc18	A	T	5: 108,161,503 (GRCm38)	K321N	possibly damaging	Het
Ccl11	A	T	11: 82,061,742 (GRCm38)	K47M	possibly damaging	Het
Cdkn2a	T	C	4: 89,276,750 (GRCm38)	I142M	probably benign	Het
Chrna1	C	A	2: 73,570,609 (GRCm38)	E192D	probably benign	Het
Clasp1	A	G	1: 118,503,899 (GRCm38)	N420D	probably damaging	Het
Clca3a2	T	A	3: 144,805,942 (GRCm38)		probably null	Het
Cntn2	T	C	1: 132,521,774 (GRCm38)	Y643C	probably damaging	Het
Dcun1d1	G	A	3: 35,897,554 (GRCm38)	H204Y	probably benign	Het
Dlg2	A	T	7: 92,438,014 (GRCm38)	Q767L	possibly damaging	Het
Dnah11	A	G	12: 118,085,731 (GRCm38)	S1653P	probably benign	Het
Dvl3	T	A	16: 20,523,763 (GRCm38)		probably null	Het
Egf	T	C	3: 129,754,943 (GRCm38)	T8A	unknown	Het
Eln	G	T	5: 134,728,392 (GRCm38)	T219K	unknown	Het
Evc	T	C	5: 37,314,528 (GRCm38)	D536G	possibly damaging	Het
Fbxo3	A	G	2: 104,051,208 (GRCm38)	E295G	possibly damaging	Het
Gm14548	T	A	7: 3,896,955 (GRCm38)	E216V	possibly damaging	Het
Gp2	C	T	7: 119,442,787 (GRCm38)	C505Y	probably benign	Het
Gpr37	A	G	6: 25,669,531 (GRCm38)	F438S	probably damaging	Het
Gsk3b	T	C	16: 38,191,625 (GRCm38)	S236P	probably benign	Het
Kdm5d	A	G	Y: 942,477 (GRCm38)	T1381A	probably benign	Het
Klhl12	T	C	1: 134,485,722 (GRCm38)	I315T	possibly damaging	Het
Ltb	T	A	17: 35,195,193 (GRCm38)	N102K	probably benign	Het
Macf1	T	C	4: 123,526,856 (GRCm38)	T202A	probably benign	Het
Macf1	C	A	4: 123,384,683 (GRCm38)	D5993Y	probably damaging	Het
Mak	T	A	13: 41,046,203 (GRCm38)	D320V	probably benign	Het
Map2	G	A	1: 66,421,713 (GRCm38)	R1556H	probably damaging	Het
Mgat4d	G	T	8: 83,368,133 (GRCm38)	M266I	probably benign	Het
Mmp24	G	T	2: 155,810,303 (GRCm38)	R310S	possibly damaging	Het
Myh6	A	T	14: 54,953,434 (GRCm38)	L928Q	probably damaging	Het
Npnt	A	G	3: 132,908,456 (GRCm38)	L179P	probably damaging	Het
Olfr1205	A	G	2: 88,831,383 (GRCm38)	I89V	probably benign	Het
Olfr38	A	G	6: 42,762,565 (GRCm38)	N171S	probably benign	Het
Olfr972	T	G	9: 39,873,935 (GRCm38)	F220C	probably benign	Het
Parp4	A	T	14: 56,648,729 (GRCm38)	Y1755F	unknown	Het
Phactr1	A	G	13: 42,709,821 (GRCm38)	E74G	possibly damaging	Het
Plcg1	G	A	2: 160,747,896 (GRCm38)	M113I	probably benign	Het
Plekhh2	T	G	17: 84,571,761 (GRCm38)	S638A	possibly damaging	Het
Ppp2r3a	T	A	9: 101,211,786 (GRCm38)	H446L	probably benign	Het
Prkcg	G	T	7: 3,330,170 (GRCm38)	D644Y	probably damaging	Het
Rbbp8nl	G	T	2: 180,279,713 (GRCm38)	R293S	probably benign	Het
Rbl2	A	T	8: 91,115,759 (GRCm38)	H1057L	possibly damaging	Het
Rpgrip1	A	T	14: 52,150,362 (GRCm38)	H1076L	possibly damaging	Het
Scn11a	A	C	9: 119,781,970 (GRCm38)	D938E	probably benign	Het
Sec24b	T	C	3: 130,005,001 (GRCm38)	D573G	probably damaging	Het
Serpinf1	T	G	11: 75,415,571 (GRCm38)	Q147P	unknown	Het
Skint6	C	T	4: 113,236,445 (GRCm38)	G167D	probably damaging	Het
Slc15a5	A	G	6: 138,079,900 (GRCm38)	F6S	probably damaging	Het
Smc2	T	A	4: 52,449,376 (GRCm38)	I179K	probably benign	Het
Smpdl3a	A	G	10: 57,800,977 (GRCm38)	K57R	possibly damaging	Het
Smpdl3b	T	A	4: 132,746,679 (GRCm38)	H25L	probably damaging	Het
Srpk1	T	C	17: 28,620,424 (GRCm38)	D35G	unknown	Het
Strn	A	G	17: 78,672,647 (GRCm38)	V324A	probably damaging	Het
Sult6b2	T	C	6: 142,790,296 (GRCm38)	K191E	probably benign	Het
Tmem168	A	G	6: 13,583,325 (GRCm38)	I519T	probably benign	Het
Tmem41a	T	C	16: 21,938,034 (GRCm38)	T112A	probably benign	Het
Tmem67	A	G	4: 12,058,576 (GRCm38)	I507T	probably benign	Het
Tns1	T	C	1: 73,985,042 (GRCm38)	E454G	probably damaging	Het
Trim26	C	A	17: 36,857,710 (GRCm38)	D422E	unknown	Het
Triobp	C	A	15: 78,958,275 (GRCm38)	R58S	possibly damaging	Het
Trp53	T	C	11: 69,587,583 (GRCm38)	F106S	probably damaging	Het
Tshz3	C	A	7: 36,771,537 (GRCm38)	Q984K	probably damaging	Het
Ttll3	A	G	6: 113,394,998 (GRCm38)	E73G	probably damaging	Het
Vmn1r194	A	G	13: 22,245,077 (GRCm38)	N288S	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
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
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'- CAAGACCGTGTATCGTGTGTC -3'
(R):5'- ACTCCCTCACTCTTAGGGAC -3'

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

Posted On

2020-09-02