Mutagenetix > Incidental Mutation

Incidental Mutation 'R2079:Cfap65'

229311

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

040084-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.720) question?

Stock #

R2079 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74941230-74974758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74956358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1074 (R1074C)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

probably benign
Transcript: ENSMUST00000094844
AA Change: R1074C

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: R1074C

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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
Adamts6	A	T	13: 104,598,746 (GRCm39)	R862S	probably benign	Het
Aldoa	T	C	7: 126,396,076 (GRCm39)	D164G	probably null	Het
Ankle2	T	C	5: 110,392,371 (GRCm39)	V459A	probably damaging	Het
Atp11a	A	G	8: 12,907,902 (GRCm39)	Y482C	probably damaging	Het
BC035947	A	G	1: 78,488,561 (GRCm39)		probably benign	Het
Ciart	G	T	3: 95,786,350 (GRCm39)	H242N	probably damaging	Het
Cidec	T	A	6: 113,402,615 (GRCm39)	M220L	probably benign	Het
Clca3a1	A	G	3: 144,713,534 (GRCm39)	I699T	possibly damaging	Het
Csf2rb2	T	C	15: 78,172,207 (GRCm39)	D401G	probably benign	Het
Cyp2j6	C	A	4: 96,419,962 (GRCm39)	L256F	possibly damaging	Het
Ddr2	A	T	1: 169,832,345 (GRCm39)	Y148*	probably null	Het
Depdc5	T	A	5: 33,104,018 (GRCm39)	I373N	possibly damaging	Het
Dpp10	A	T	1: 123,360,721 (GRCm39)	M268K	probably damaging	Het
Fam118b	C	A	9: 35,134,960 (GRCm39)	V216F	possibly damaging	Het
Fancd2	T	C	6: 113,532,148 (GRCm39)	V487A	probably damaging	Het
Fhad1	T	A	4: 141,718,513 (GRCm39)	R147*	probably null	Het
Flt3	A	G	5: 147,291,893 (GRCm39)	S544P	probably damaging	Het
Frem3	C	A	8: 81,341,732 (GRCm39)	Q1342K	probably benign	Het
Garin3	T	G	11: 46,295,934 (GRCm39)	V102G	probably benign	Het
Gimap4	T	C	6: 48,667,881 (GRCm39)	M84T	possibly damaging	Het
Gm20481	T	C	17: 35,189,196 (GRCm39)	K569R	probably benign	Het
Gm4871	A	C	5: 144,966,741 (GRCm39)	D247E	possibly damaging	Het
Gm5141	A	T	13: 62,922,424 (GRCm39)	N248K	probably benign	Het
Gulo	A	G	14: 66,227,832 (GRCm39)	Y367H	probably damaging	Het
Hap1	T	C	11: 100,244,572 (GRCm39)	E120G	probably damaging	Het
Heatr3	T	A	8: 88,868,404 (GRCm39)	N51K	probably damaging	Het
Hipk2	T	C	6: 38,795,720 (GRCm39)	D183G	probably damaging	Het
Hnrnpll	T	A	17: 80,342,806 (GRCm39)	T439S	probably benign	Het
Hoxd3	A	C	2: 74,574,610 (GRCm39)	E85D	probably damaging	Het
Ipo8	A	T	6: 148,690,660 (GRCm39)	M694K	probably damaging	Het
Jag2	A	G	12: 112,883,997 (GRCm39)	I194T	probably damaging	Het
Jrkl	A	T	9: 13,244,864 (GRCm39)	F266I	probably damaging	Het
Kcnt1	A	G	2: 25,790,260 (GRCm39)	I436V	possibly damaging	Het
Kdm3b	A	T	18: 34,936,570 (GRCm39)	D284V	probably damaging	Het
Khdrbs2	A	G	1: 32,506,955 (GRCm39)	T200A	probably benign	Het
Kmt2c	T	C	5: 25,557,278 (GRCm39)	D1143G	possibly damaging	Het
Kremen1	G	GGGGT	11: 5,151,794 (GRCm39)		probably null	Het
Lama2	A	C	10: 27,245,049 (GRCm39)	I244S	probably damaging	Het
Lama5	G	A	2: 179,867,301 (GRCm39)	P99S	possibly damaging	Het
Lrrc30	A	T	17: 67,938,875 (GRCm39)	L235Q	possibly damaging	Het
Man2b2	C	T	5: 36,971,716 (GRCm39)	V667M	possibly damaging	Het
Mmp2	T	A	8: 93,576,817 (GRCm39)	N77K	probably damaging	Het
Myo1a	A	G	10: 127,556,482 (GRCm39)	E1009G	probably benign	Het
Ndst1	A	G	18: 60,828,581 (GRCm39)	Y658H	probably damaging	Het
Nlrp10	A	G	7: 108,524,835 (GRCm39)	L215P	possibly damaging	Het
Nrbp1	T	C	5: 31,408,417 (GRCm39)	F526L	probably benign	Het
Or10p21	T	C	10: 128,847,898 (GRCm39)	V248A	probably damaging	Het
Or51t4	T	A	7: 102,598,702 (GRCm39)	F333L	probably benign	Het
Padi2	T	C	4: 140,660,507 (GRCm39)	L329P	probably damaging	Het
Pcdhb20	A	G	18: 37,638,224 (GRCm39)	Q250R	probably benign	Het
Pcdhb3	T	A	18: 37,436,362 (GRCm39)	L776Q	possibly damaging	Het
Pik3cb	A	T	9: 98,942,257 (GRCm39)	M700K	probably benign	Het
Pla2g6	C	T	15: 79,197,194 (GRCm39)	V127M	probably damaging	Het
Rabgef1	T	C	5: 130,219,776 (GRCm39)	S80P	probably damaging	Het
Sema3a	C	T	5: 13,501,098 (GRCm39)	T47I	possibly damaging	Het
Sik2	C	T	9: 50,818,706 (GRCm39)		probably null	Het
Sin3a	T	C	9: 56,996,807 (GRCm39)	V112A	probably benign	Het
Slc26a6	G	A	9: 108,736,257 (GRCm39)	A472T	probably damaging	Het
Syne1	A	G	10: 5,311,502 (GRCm39)	V561A	probably benign	Het
Syt16	C	T	12: 74,285,073 (GRCm39)	T422I	probably damaging	Het
Tlr11	A	T	14: 50,598,437 (GRCm39)	H141L	probably damaging	Het
Tmem252	A	T	19: 24,655,017 (GRCm39)	E131D	probably benign	Het
Trim55	T	G	3: 19,698,830 (GRCm39)	L20V	probably damaging	Het
Uqcrfs1	A	T	13: 30,725,291 (GRCm39)	V83D	probably benign	Het
Utf1	C	T	7: 139,524,808 (GRCm39)	R309*	probably null	Het
Uxs1	T	C	1: 43,804,133 (GRCm39)	T261A	probably damaging	Het
Vmn1r24	T	C	6: 57,932,655 (GRCm39)	I288V	probably benign	Het
Vmn1r80	A	T	7: 11,927,121 (GRCm39)	D77V	probably damaging	Het
Vmn2r74	T	G	7: 85,606,383 (GRCm39)	H321P	probably benign	Het
Zfp638	T	C	6: 83,930,371 (GRCm39)		probably null	Het
Zwilch	T	A	9: 64,060,856 (GRCm39)	Q332L	probably damaging	Het
Zwilch	G	T	9: 64,060,857 (GRCm39)	Q332K	probably damaging	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
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
R9127:Cfap65	UTSW	1	74,958,510 (GRCm39)	splice site	probably benign
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'- AAGAATTTTGAGAGACCCTCCC -3'
(R):5'- AGCTGAGCCACTGTTTGTG -3'

Sequencing Primer
(F):5'- AGCTTCTTGGGAAAGGC -3'
(R):5'- AGGGCTCTGCACCTAACC -3'

Posted On

2014-09-17