Mutagenetix > Incidental Mutation

Incidental Mutation 'R9721:Cfap65'

730763

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

R9721 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74902071-74935599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74919342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 869 (T869A)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

probably benign
Transcript: ENSMUST00000094844
AA Change: T869A

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: T869A

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,419,283 (GRCm38)	Y120N	probably benign	Het
2410089E03Rik	A	G	15: 8,225,409 (GRCm38)	T27A	unknown	Het
4931428F04Rik	A	T	8: 105,283,188 (GRCm38)	D376E	probably benign	Het
AI314180	A	T	4: 58,850,938 (GRCm38)	S412T	probably benign	Het
Alox8	T	A	11: 69,197,085 (GRCm38)	H131L	probably benign	Het
Atp13a1	A	G	8: 69,799,437 (GRCm38)	E588G	probably damaging	Het
AU040320	G	A	4: 126,839,648 (GRCm38)	V654M	probably damaging	Het
Bicra	A	G	7: 15,979,176 (GRCm38)	L982P	probably damaging	Het
Cdh11	A	T	8: 102,679,625 (GRCm38)	V72E	probably damaging	Het
Ddx19a	A	G	8: 110,978,475 (GRCm38)	F338S	probably damaging	Het
Dhrs7c	T	A	11: 67,815,078 (GRCm38)	V219E	probably damaging	Het
Dhx33	A	G	11: 71,001,598 (GRCm38)	V115A	probably damaging	Het
Dst	A	G	1: 34,192,785 (GRCm38)	D3153G	probably benign	Het
Eif5b	T	C	1: 38,037,659 (GRCm38)		probably null	Het
Ep300	A	G	15: 81,608,315 (GRCm38)	N284S	unknown	Het
Fam83a	A	G	15: 57,986,117 (GRCm38)	N19S	probably benign	Het
Fgd5	A	T	6: 91,988,297 (GRCm38)	T504S	probably benign	Het
Flt4	G	A	11: 49,644,433 (GRCm38)		probably null	Het
Ggta1	G	T	2: 35,413,406 (GRCm38)	D91E	probably benign	Het
Gls	A	G	1: 52,212,268 (GRCm38)	V310A	probably damaging	Het
Gm13178	A	T	4: 144,703,372 (GRCm38)	V349D	possibly damaging	Het
Gm5414	A	T	15: 101,628,147 (GRCm38)	C14*	probably null	Het
Gm906	T	C	13: 50,246,652 (GRCm38)	Y546C	possibly damaging	Het
Gm9887	C	G	12: 69,371,855 (GRCm38)	A202P	unknown	Het
Ifi214	T	C	1: 173,527,913 (GRCm38)	T110A	possibly damaging	Het
Il4i1	A	G	7: 44,839,689 (GRCm38)	R293G	probably benign	Het
Itpr1	A	T	6: 108,406,102 (GRCm38)	T1464S	probably damaging	Het
Kif18a	T	C	2: 109,293,055 (GRCm38)	S225P	probably damaging	Het
Kif21a	A	T	15: 90,971,127 (GRCm38)	I678N	probably damaging	Het
Klf11	T	A	12: 24,660,241 (GRCm38)	D429E	probably damaging	Het
Kntc1	A	G	5: 123,801,885 (GRCm38)	T1581A	probably benign	Het
Lama2	T	C	10: 27,467,342 (GRCm38)	N45D	possibly damaging	Het
Lrrk1	T	C	7: 66,274,875 (GRCm38)	I1319V	probably damaging	Het
Ltbr	G	A	6: 125,307,385 (GRCm38)	R365W	probably damaging	Het
Malrd1	C	T	2: 15,696,827 (GRCm38)	T751I	unknown	Het
Mgat5b	T	C	11: 116,966,769 (GRCm38)	L363P	probably damaging	Het
Mphosph9	A	T	5: 124,298,675 (GRCm38)	S535R	possibly damaging	Het
Nckap5	C	T	1: 126,027,280 (GRCm38)	D512N	probably damaging	Het
Ngef	T	A	1: 87,479,135 (GRCm38)	D637V	probably damaging	Het
Nup93	T	C	8: 94,303,685 (GRCm38)	Y391H	probably damaging	Het
Olfr1215	T	C	2: 89,001,716 (GRCm38)	T191A		Het
Olfr1406	C	A	1: 173,184,348 (GRCm38)	V29F	probably benign	Het
Olfr1469	A	T	19: 13,410,970 (GRCm38)	T134S	probably benign	Het
Pcdhb4	C	A	18: 37,309,852 (GRCm38)	D738E	possibly damaging	Het
Pfpl	G	C	19: 12,428,933 (GRCm38)	E183Q	probably damaging	Het
Phactr3	G	A	2: 178,256,250 (GRCm38)	E86K	probably damaging	Het
Psd	C	T	19: 46,323,189 (GRCm38)	D351N	probably benign	Het
Pzp	A	G	6: 128,495,191 (GRCm38)		probably null	Het
Rerg	T	A	6: 137,056,417 (GRCm38)	K106*	probably null	Het
Samd9l	T	C	6: 3,375,854 (GRCm38)	E469G	possibly damaging	Het
Smok2b	C	A	17: 13,234,978 (GRCm38)	Y8*	probably null	Het
Spn	A	G	7: 127,136,265 (GRCm38)	S357P	probably benign	Het
Tek	T	G	4: 94,804,302 (GRCm38)	W216G	possibly damaging	Het
Trpm3	A	T	19: 22,889,398 (GRCm38)	H531L	probably benign	Het
Trpm6	A	G	19: 18,829,972 (GRCm38)	M1027V	probably benign	Het
Tsc2	G	A	17: 24,599,642 (GRCm38)	R1408*	probably null	Het
Unc13b	A	G	4: 43,101,869 (GRCm38)	N155D	probably benign	Het
Vmn1r52	G	A	6: 90,179,026 (GRCm38)	C104Y	probably damaging	Het
Xylt1	A	T	7: 117,549,020 (GRCm38)	E273V	probably damaging	Het
Zc3h4	C	A	7: 16,434,845 (GRCm38)	Q1035K	unknown	Het
Zcchc11	T	A	4: 108,555,581 (GRCm38)	M1493K	probably benign	Het
Zfp14	A	T	7: 30,039,184 (GRCm38)	S125R	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
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
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'- CAACAGGGCTTCTACTCACAG -3'
(R):5'- CTGAGGCTCCAGTTTCCATC -3'

Sequencing Primer
(F):5'- TCACAGAGAGGCATCCAGTAAC -3'
(R):5'- GAGGCTCCAGTTTCCATCATAATGAG -3'

Posted On

2022-10-06