Mutagenetix > Incidental Mutation

Incidental Mutation 'R6010:Cfap65'

479680

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

044187-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

R6010 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74923031 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 677 (C677Y)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

probably damaging
Transcript: ENSMUST00000094844
AA Change: C677Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: C677Y

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

Meta Mutation Damage Score

0.2784

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	G	4: 56,743,870 (GRCm38)	I132M	possibly damaging	Het
Agap2	A	T	10: 127,090,910 (GRCm38)	I939F	probably damaging	Het
Ahctf1	A	G	1: 179,795,813 (GRCm38)	V80A	possibly damaging	Het
Atxn3	T	C	12: 101,948,026 (GRCm38)	D67G	probably damaging	Het
Avl9	G	A	6: 56,753,390 (GRCm38)	V573M	possibly damaging	Het
Baz1b	G	A	5: 135,217,451 (GRCm38)	E585K	possibly damaging	Het
Brms1l	T	C	12: 55,868,200 (GRCm38)	F298S	possibly damaging	Het
Camk2d	G	A	3: 126,797,714 (GRCm38)	V278I	possibly damaging	Het
Car10	A	G	11: 93,599,323 (GRCm38)	I297V	possibly damaging	Het
Cfap74	T	A	4: 155,454,038 (GRCm38)	D872E	possibly damaging	Het
Cgrrf1	A	C	14: 46,853,701 (GRCm38)	Q227H	probably damaging	Het
Chil4	A	G	3: 106,214,395 (GRCm38)	I46T	probably damaging	Het
Chpf2	A	T	5: 24,591,919 (GRCm38)	H621L	probably damaging	Het
Cluap1	C	T	16: 3,937,573 (GRCm38)	R351W	possibly damaging	Het
Cnot6	A	T	11: 49,683,239 (GRCm38)	Y201*	probably null	Het
Col15a1	T	C	4: 47,245,630 (GRCm38)	V127A	probably benign	Het
Col6a3	C	T	1: 90,773,497 (GRCm38)	V2566I	unknown	Het
Cope	T	A	8: 70,308,512 (GRCm38)	M88K	probably damaging	Het
Cops4	A	G	5: 100,543,910 (GRCm38)	I358M	possibly damaging	Het
Coro7	T	C	16: 4,669,956 (GRCm38)	E130G	possibly damaging	Het
Csrp3	A	G	7: 48,835,465 (GRCm38)		probably null	Het
Cyp4f39	T	C	17: 32,482,186 (GRCm38)	F217L	probably damaging	Het
Dmac1	A	G	4: 75,278,236 (GRCm38)	S6P	unknown	Het
Drd4	A	T	7: 141,294,796 (GRCm38)	I367F	probably damaging	Het
Efcc1	T	A	6: 87,753,729 (GRCm38)		probably null	Het
Emid1	A	T	11: 5,135,389 (GRCm38)	M119K	possibly damaging	Het
Fbn2	C	T	18: 58,069,524 (GRCm38)	D1237N	probably benign	Het
Fbxl18	C	A	5: 142,872,398 (GRCm38)	R761L	probably damaging	Het
Gbp10	A	C	5: 105,224,339 (GRCm38)	L185R	probably damaging	Het
Gm7247	C	T	14: 51,364,348 (GRCm38)	S26F	probably benign	Het
Gucd1	G	T	10: 75,420,766 (GRCm38)		probably benign	Het
Helb	G	A	10: 120,105,883 (GRCm38)	T300M	probably damaging	Het
Ifna11	A	T	4: 88,820,041 (GRCm38)	H28L	probably benign	Het
Kalrn	T	A	16: 34,010,580 (GRCm38)	N723I	probably benign	Het
Kcnb2	C	T	1: 15,710,566 (GRCm38)	S554F	possibly damaging	Het
Med1	A	C	11: 98,158,362 (GRCm38)	V536G	probably damaging	Het
Nanog	A	C	6: 122,713,296 (GRCm38)	N195T	probably benign	Het
Neu1	C	T	17: 34,932,055 (GRCm38)	S94F	probably damaging	Het
Nop58	T	A	1: 59,700,912 (GRCm38)	S154R	probably damaging	Het
Npl	A	T	1: 153,512,568 (GRCm38)	L239*	probably null	Het
Nrg1	G	A	8: 31,818,572 (GRCm38)	T483M	probably damaging	Het
Nup98	G	T	7: 102,180,429 (GRCm38)	F391L	probably damaging	Het
Or4c122	A	T	2: 89,248,743 (GRCm38)	I305K	probably benign	Het
Or5ar1	T	C	2: 85,841,561 (GRCm38)	I77V	probably benign	Het
Or5d47	A	T	2: 87,974,542 (GRCm38)	V41E	probably damaging	Het
Or5g26	T	C	2: 85,664,030 (GRCm38)	I135V	probably benign	Het
Pacsin2	A	G	15: 83,381,819 (GRCm38)	V59A	possibly damaging	Het
Pcsk9	C	T	4: 106,454,272 (GRCm38)	R254H	possibly damaging	Het
Pierce2	A	T	9: 72,980,206 (GRCm38)		probably null	Het
Psme2	C	A	14: 55,587,523 (GRCm38)		probably null	Het
Ptprc	T	A	1: 138,101,056 (GRCm38)	H468L	probably benign	Het
Rbp3	T	A	14: 33,954,647 (GRCm38)	I184N	probably damaging	Het
Serpinb1c	A	G	13: 32,882,059 (GRCm38)	L301P	probably damaging	Het
Smim6	G	T	11: 115,913,393 (GRCm38)	G2V	probably damaging	Het
Snrpb2	A	G	2: 143,070,895 (GRCm38)	D146G	possibly damaging	Het
Svep1	T	A	4: 58,115,832 (GRCm38)	S954C	possibly damaging	Het
Telo2	G	T	17: 25,104,878 (GRCm38)	T568N	possibly damaging	Het
Tpp2	T	C	1: 43,951,213 (GRCm38)		probably null	Het
Upf1	A	G	8: 70,337,025 (GRCm38)	V720A	probably damaging	Het
Vmn1r81	T	C	7: 12,260,422 (GRCm38)	I86M	possibly damaging	Het
Vps8	T	A	16: 21,545,205 (GRCm38)		probably benign	Het
Wdr70	T	C	15: 7,887,419 (GRCm38)		probably null	Het
Zfp385c	A	T	11: 100,657,537 (GRCm38)	S30T	probably benign	Het
Zfp607a	T	A	7: 27,877,829 (GRCm38)	L108*	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
R5669:Cfap65	UTSW	1	74,924,968 (GRCm38)	missense	probably damaging	0.99
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'- ATGGGGATGTATTACTGAGGCC -3'
(R):5'- GCAGAAGGGATTTTGTACGTC -3'

Sequencing Primer
(F):5'- TGTATTACTGAGGCCATTAGAAAGAG -3'
(R):5'- TTGTACGTCCGTCCTAGGCAG -3'

Posted On

2017-06-26