Mutagenetix > Incidental Mutation

Incidental Mutation 'R9020:Cfap65'

686640

Institutional Source

Beutler Lab

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

MMRRC Submission

068850-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.677) question?

Stock #

R9020 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74941230-74974758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74959552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 866 (E866G)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

probably damaging
Transcript: ENSMUST00000094844
AA Change: E866G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: E866G

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

Meta Mutation Damage Score

0.3343

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (58/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,605,615 (GRCm39)	S586P	probably damaging	Het
Adora3	T	A	3: 105,815,141 (GRCm39)	I297N	probably damaging	Het
Adrb3	A	T	8: 27,717,947 (GRCm39)	F167L	probably damaging	Het
Apob	A	G	12: 8,063,999 (GRCm39)	Y3955C	probably damaging	Het
Atp2a1	T	C	7: 126,046,135 (GRCm39)	D963G	probably benign	Het
Btbd10	T	C	7: 112,951,057 (GRCm39)	N11S	possibly damaging	Het
Casr	A	G	16: 36,315,611 (GRCm39)	S820P	probably damaging	Het
Ccdc82	C	T	9: 13,281,915 (GRCm39)	R447C	probably damaging	Het
Cfap44	T	A	16: 44,257,522 (GRCm39)	V1019E	probably damaging	Het
Chd4	T	A	6: 125,084,469 (GRCm39)	D713E	probably damaging	Het
Ctdsp1	T	C	1: 74,434,676 (GRCm39)	F240S	possibly damaging	Het
Cyp26b1	C	T	6: 84,552,056 (GRCm39)	V361I	probably benign	Het
Dmbt1	T	A	7: 130,712,787 (GRCm39)	I1597N	possibly damaging	Het
Dnajc25	C	A	4: 59,003,470 (GRCm39)	Y80*	probably null	Het
Fbxo17	A	T	7: 28,436,782 (GRCm39)	N246Y	possibly damaging	Het
Filip1l	A	G	16: 57,391,058 (GRCm39)	T549A	probably benign	Het
Gm9758	A	C	5: 14,964,739 (GRCm39)	N35K		Het
Gtf2i	T	C	5: 134,275,415 (GRCm39)	T707A	probably benign	Het
Ifnk	T	C	4: 35,152,573 (GRCm39)	V167A	probably damaging	Het
Iqch	T	C	9: 63,432,526 (GRCm39)	M290V	probably benign	Het
Irx1	A	T	13: 72,111,548 (GRCm39)	Y20*	probably null	Het
Jade2	T	A	11: 51,708,454 (GRCm39)	Q572L	probably benign	Het
Kcne4	T	A	1: 78,795,425 (GRCm39)	H24Q	probably benign	Het
Kcnq5	T	C	1: 21,539,463 (GRCm39)		probably benign	Het
Kcnt2	T	A	1: 140,512,049 (GRCm39)	V1068E	probably benign	Het
Klk1b27	T	A	7: 43,705,118 (GRCm39)	V95D	probably damaging	Het
Lins1	A	G	7: 66,357,961 (GRCm39)	D32G	probably damaging	Het
Mavs	A	G	2: 131,088,594 (GRCm39)	E466G	possibly damaging	Het
Mipep	T	A	14: 61,068,677 (GRCm39)	L483*	probably null	Het
Muc16	G	GAATGGCTTTCTT	9: 18,550,015 (GRCm39)		probably benign	Het
Myo1a	C	A	10: 127,549,992 (GRCm39)	Q491K	probably benign	Het
Nle1	C	G	11: 82,797,275 (GRCm39)	E146Q	probably benign	Het
Nphp3	T	C	9: 103,909,150 (GRCm39)	Y787H	probably benign	Het
Pcdh15	A	G	10: 74,481,443 (GRCm39)	S263G	probably benign	Het
Pcdhb8	T	G	18: 37,489,837 (GRCm39)	I505S	probably damaging	Het
Phtf1	C	G	3: 103,898,694 (GRCm39)	S339*	probably null	Het
Pip5k1b	T	A	19: 24,327,585 (GRCm39)	I424F	probably benign	Het
Plxna4	T	A	6: 32,211,497 (GRCm39)	T681S	possibly damaging	Het
Prdm1	A	G	10: 44,316,036 (GRCm39)	L700P	probably damaging	Het
Prtg	C	T	9: 72,799,277 (GRCm39)	T769I	probably damaging	Het
Rasgrf2	A	G	13: 92,165,146 (GRCm39)	V340A	possibly damaging	Het
Ros1	T	A	10: 52,031,023 (GRCm39)	E548D	probably benign	Het
Rsph10b	G	A	5: 143,922,283 (GRCm39)	R823Q	probably benign	Het
Scgb1b3	A	G	7: 31,075,276 (GRCm39)	E42G	probably damaging	Het
Scyl2	T	C	10: 89,488,858 (GRCm39)	N486D	probably damaging	Het
Sdr9c7	T	A	10: 127,745,659 (GRCm39)	I257N	possibly damaging	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Slc15a5	T	A	6: 138,032,704 (GRCm39)	I217F	probably benign	Het
Steap2	T	C	5: 5,723,480 (GRCm39)	S467G	probably benign	Het
Sycp1	T	C	3: 102,783,653 (GRCm39)	K607R	probably benign	Het
Tek	C	G	4: 94,708,339 (GRCm39)	P350R	probably benign	Het
Tet3	T	C	6: 83,381,418 (GRCm39)	D250G	probably damaging	Het
Trip11	A	G	12: 101,850,770 (GRCm39)	V1098A	possibly damaging	Het
Tsc2	G	T	17: 24,845,691 (GRCm39)	T209K	probably damaging	Het
Ttc6	A	G	12: 57,752,366 (GRCm39)	Y1424C	probably damaging	Het
Uchl3	A	T	14: 101,903,986 (GRCm39)	K74N	probably damaging	Het
Usp10	T	G	8: 120,667,904 (GRCm39)	S68R	probably benign	Het
Wwp1	T	C	4: 19,650,282 (GRCm39)	I295V	probably benign	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
R2079:Cfap65	UTSW	1	74,956,358 (GRCm39)	missense	probably benign	0.30
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
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'- AGCCTCAATTTCCTGTAAGTTGTG -3'
(R):5'- CTCAGGAAGTGAGCATGCAG -3'

Sequencing Primer
(F):5'- CAATTTCCTGTAAGTTGTGGGTAAG -3'
(R):5'- TGGATCTGAAGCTGGACACC -3'

Posted On

2021-11-19