Mutagenetix > Incidental Mutation

Incidental Mutation 'R5669:Cfap65'

442485

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

043312-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

R5669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74924968 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 607 (Y607C)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

probably damaging
Transcript: ENSMUST00000094844
AA Change: Y607C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: Y607C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139950

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546 (GRCm38)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547 (GRCm38)	E685V	possibly damaging	Het
Akap9	T	A	5: 4,050,540 (GRCm38)	L2734*	probably null	Het
Aldh1a1	T	C	19: 20,610,920 (GRCm38)	I25T	probably damaging	Het
Astl	G	T	2: 127,347,279 (GRCm38)	R175L	probably damaging	Het
BC035947	A	T	1: 78,497,913 (GRCm38)	C661S	probably damaging	Het
Cd160	C	T	3: 96,808,898 (GRCm38)		probably benign	Het
Cdc42bpb	C	T	12: 111,302,013 (GRCm38)		probably null	Het
Cdip1	T	A	16: 4,768,815 (GRCm38)	I149F	probably damaging	Het
Col6a5	A	G	9: 105,925,998 (GRCm38)	I1256T	unknown	Het
Copb1	A	G	7: 114,237,585 (GRCm38)	V336A	probably damaging	Het
Ddx42	A	T	11: 106,241,819 (GRCm38)	D556V	probably damaging	Het
Dlk1	T	C	12: 109,460,038 (GRCm38)	V279A	probably benign	Het
Fbll1	T	C	11: 35,797,584 (GRCm38)	N284S	probably benign	Het
Fbxw21	A	T	9: 109,145,510 (GRCm38)	I314N	probably benign	Het
Foxa3	T	C	7: 19,014,251 (GRCm38)	T317A	probably benign	Het
Gm14139	A	G	2: 150,192,178 (GRCm38)	I140V	probably benign	Het
Gpr37	A	T	6: 25,669,352 (GRCm38)	C498S	probably benign	Het
Hapln3	G	T	7: 79,117,496 (GRCm38)		probably null	Het
Igkv4-54	A	G	6: 69,631,848 (GRCm38)	V29A	possibly damaging	Het
Itgb8	T	A	12: 119,190,628 (GRCm38)	I225F	probably damaging	Het
Kcnk3	A	G	5: 30,622,349 (GRCm38)	T248A	probably damaging	Het
Kcnv1	T	C	15: 45,114,252 (GRCm38)	Q130R	possibly damaging	Het
Lrp1b	T	C	2: 41,111,038 (GRCm38)	H2058R	probably damaging	Het
Macf1	T	A	4: 123,476,225 (GRCm38)	E1581V	probably damaging	Het
Mga	A	G	2: 119,903,426 (GRCm38)	N252D	probably damaging	Het
Nadsyn1	C	T	7: 143,807,431 (GRCm38)	G335S	probably damaging	Het
Olfr1115	T	C	2: 87,252,441 (GRCm38)	V168A	probably benign	Het
Olfr58	T	C	9: 19,783,757 (GRCm38)	F208S	probably benign	Het
Pak7	G	A	2: 136,116,284 (GRCm38)	P295S	probably damaging	Het
Pcsk1	T	A	13: 75,130,102 (GRCm38)	S595T	probably benign	Het
Pepd	T	C	7: 35,040,674 (GRCm38)	V324A	probably benign	Het
Pml	C	T	9: 58,247,063 (GRCm38)	D176N	probably benign	Het
Popdc3	T	A	10: 45,316,433 (GRCm38)	I163N	probably damaging	Het
Ppp1r13l	A	C	7: 19,373,022 (GRCm38)	T481P	probably benign	Het
Pramef12	T	C	4: 144,395,843 (GRCm38)	I44V	probably benign	Het
Prlh	A	G	1: 90,953,120 (GRCm38)	T5A	probably benign	Het
Prom1	A	G	5: 44,012,943 (GRCm38)	F638S	possibly damaging	Het
Prpf8	T	A	11: 75,504,738 (GRCm38)	L1897H	probably damaging	Het
Ret	T	C	6: 118,184,243 (GRCm38)	T91A	probably benign	Het
Retsat	A	G	6: 72,606,010 (GRCm38)	S176G	probably benign	Het
Rnd2	C	T	11: 101,468,999 (GRCm38)	L57F	probably damaging	Het
Rnf213	T	C	11: 119,458,785 (GRCm38)	L3823P	possibly damaging	Het
Rnf31	C	T	14: 55,596,704 (GRCm38)	A653V	probably damaging	Het
Rps6kl1	T	C	12: 85,147,867 (GRCm38)	D90G	probably damaging	Het
Scarb1	A	G	5: 125,300,387 (GRCm38)	Y194H	probably damaging	Het
Scube2	C	T	7: 109,825,439 (GRCm38)	A556T	probably benign	Het
Serpinb1a	A	G	13: 32,845,316 (GRCm38)	L243P	probably damaging	Het
Slc39a4	A	C	15: 76,614,163 (GRCm38)	L358R	probably damaging	Het
Slitrk5	A	G	14: 111,681,623 (GRCm38)	D893G	probably damaging	Het
Srgap1	C	A	10: 121,804,850 (GRCm38)	V681L	probably benign	Het
Tmprss6	A	T	15: 78,454,956 (GRCm38)	M262K	possibly damaging	Het
Ttf2	T	A	3: 100,951,117 (GRCm38)	K719*	probably null	Het
Vmn1r62	T	A	7: 5,675,737 (GRCm38)	L139*	probably null	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
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'- GTTTCAGTCTGTATGCACACACC -3'
(R):5'- CAGTCTCTCCCTATGCAGGAAC -3'

Sequencing Primer
(F):5'- GTCTGTATGCACACACCTTATAAACG -3'
(R):5'- AACTGGAGGACCTGCCAGAC -3'

Posted On

2016-11-09