Mutagenetix > Incidental Mutation

Incidental Mutation 'R6838:Cfap65'

537928

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

044946-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

R6838 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74932021 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 46 (D46G)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

probably benign
Transcript: ENSMUST00000094844
AA Change: D46G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: D46G

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: 99.5%
20x: 98.7%

Validation Efficiency

97% (64/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	C	G	1: 173,463,980 (GRCm38)	T317R	probably damaging	Het
Aqp9	T	A	9: 71,112,216 (GRCm38)	M321L	probably benign	Het
Avil	G	A	10: 127,013,562 (GRCm38)	D576N	probably benign	Het
Bbs1	C	T	19: 4,903,852 (GRCm38)	M94I	possibly damaging	Het
Bms1	A	G	6: 118,416,494 (GRCm38)	V139A	probably benign	Het
Bscl2	A	T	19: 8,841,381 (GRCm38)	M57L	probably damaging	Het
C2cd5	A	G	6: 143,029,638 (GRCm38)	I794T	possibly damaging	Het
Cacna1s	C	T	1: 136,084,437 (GRCm38)	T539I	possibly damaging	Het
Cand1	T	C	10: 119,210,030 (GRCm38)	K990R	probably benign	Het
Capn7	A	G	14: 31,354,173 (GRCm38)	I311V	possibly damaging	Het
Cd180	A	G	13: 102,702,731 (GRCm38)	N41D	probably benign	Het
Cdin1	T	C	2: 115,776,990 (GRCm38)	F275L	possibly damaging	Het
Celsr1	G	A	15: 85,939,194 (GRCm38)	T1671I	probably benign	Het
Cep135	A	T	5: 76,632,215 (GRCm38)	Q798L	probably damaging	Het
Cracd	A	T	5: 76,858,209 (GRCm38)	T806S	unknown	Het
Ddx46	G	T	13: 55,639,935 (GRCm38)		probably null	Het
Dnah7b	T	C	1: 46,191,788 (GRCm38)	L1402P	probably damaging	Het
Dnah8	A	G	17: 30,710,551 (GRCm38)	E1402G	probably damaging	Het
Dock9	A	G	14: 121,546,596 (GRCm38)	Y1989H	possibly damaging	Het
Ereg	A	G	5: 91,088,464 (GRCm38)	D50G	probably benign	Het
Evi5	G	T	5: 107,842,161 (GRCm38)	T64K	possibly damaging	Het
Frem3	A	C	8: 80,612,031 (GRCm38)	T318P	probably damaging	Het
Gpx1	A	G	9: 108,339,940 (GRCm38)	D81G	possibly damaging	Het
Gramd1a	T	C	7: 31,134,504 (GRCm38)	I499V	probably benign	Het
H4c12	A	T	13: 21,750,205 (GRCm38)	F101I	probably damaging	Het
Herc2	T	A	7: 56,108,778 (GRCm38)	D804E	probably damaging	Het
Hk1	T	C	10: 62,271,658 (GRCm38)	E846G	probably damaging	Het
Iars2	G	A	1: 185,329,145 (GRCm38)	A48V	probably damaging	Het
Invs	C	T	4: 48,283,278 (GRCm38)	T10M	possibly damaging	Het
Ism2	A	T	12: 87,280,201 (GRCm38)	D321E	probably benign	Het
Itpr1	T	C	6: 108,471,191 (GRCm38)	S231P	possibly damaging	Het
Kif17	A	T	4: 138,278,399 (GRCm38)		probably null	Het
Lvrn	A	G	18: 46,890,880 (GRCm38)	I765V	possibly damaging	Het
Map4k4	T	A	1: 39,976,722 (GRCm38)	C108S	probably damaging	Het
Mapk13	G	T	17: 28,777,561 (GRCm38)		probably null	Het
Mapkapk2	T	A	1: 131,058,003 (GRCm38)	K95*	probably null	Het
Mau2	A	T	8: 70,039,297 (GRCm38)		probably null	Het
Mex3a	A	G	3: 88,536,777 (GRCm38)	T387A	probably benign	Het
Myo5a	T	C	9: 75,153,883 (GRCm38)		probably null	Het
Ncbp3	A	T	11: 73,073,474 (GRCm38)	M417L	possibly damaging	Het
Nod2	A	C	8: 88,670,458 (GRCm38)	E810A	possibly damaging	Het
Nol3	A	T	8: 105,279,575 (GRCm38)	E152V	probably damaging	Het
Obox6	T	C	7: 15,833,739 (GRCm38)	E261G	possibly damaging	Het
Or2h1	A	T	17: 37,093,166 (GRCm38)	L236*	probably null	Het
Or8b12b	A	C	9: 37,773,052 (GRCm38)	Y131S	possibly damaging	Het
P3h2	T	C	16: 26,105,284 (GRCm38)	S134G	possibly damaging	Het
Plxna2	A	T	1: 194,804,914 (GRCm38)	R1592S	possibly damaging	Het
Ppp1r12a	C	T	10: 108,261,276 (GRCm38)	S250L	possibly damaging	Het
Rab38	A	G	7: 88,450,709 (GRCm38)	D144G	possibly damaging	Het
Septin1	T	C	7: 127,216,722 (GRCm38)	M176V	probably benign	Het
Spata22	C	T	11: 73,345,933 (GRCm38)	T355M	probably benign	Het
Tango6	A	G	8: 106,742,074 (GRCm38)	N734S	probably benign	Het
Tbc1d17	C	A	7: 44,844,314 (GRCm38)	R295L	probably damaging	Het
Thsd7a	G	T	6: 12,504,075 (GRCm38)	P360Q	probably damaging	Het
Tmem161b	C	A	13: 84,222,418 (GRCm38)		probably benign	Het
Tnnt1	T	C	7: 4,507,407 (GRCm38)	N239S	possibly damaging	Het
Tpst1	A	T	5: 130,102,438 (GRCm38)	M250L	probably benign	Het
Urb1	T	A	16: 90,782,106 (GRCm38)	D689V	possibly damaging	Het
Usp28	T	A	9: 49,000,430 (GRCm38)		probably null	Het
Vldlr	G	A	19: 27,247,970 (GRCm38)	D816N	probably damaging	Het
Vmn1r257	T	A	7: 22,691,717 (GRCm38)	M201L	probably benign	Het
Wdr1	A	G	5: 38,530,031 (GRCm38)	V219A	probably damaging	Het
Xndc1	T	C	7: 102,073,269 (GRCm38)	V47A	possibly damaging	Het
Zfp366	C	T	13: 99,228,507 (GRCm38)	P59S	possibly damaging	Het
Zfp366	A	G	13: 99,246,177 (GRCm38)	E616G	possibly damaging	Het
Zfp937	T	A	2: 150,239,346 (GRCm38)	I432K	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
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'- GGTACCTGTACTTCATCTTCTGGG -3'
(R):5'- TCCAGCCAGGGGAATTAAAG -3'

Sequencing Primer
(F):5'- ACTTCATCTTCTGGGTTTTCAGG -3'
(R):5'- CCACAGCTAGAAATAGGTTTGTCC -3'

Posted On

2018-10-18