Mutagenetix > Incidental Mutation

Incidental Mutation 'R9187:Cfap65'

697411

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: 0.677) question?

Stock #

R9187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74941230-74974758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74956517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1021 (M1021L)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

probably benign
Transcript: ENSMUST00000094844
AA Change: M1021L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: M1021L

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: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

97% (70/72)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,200,961 (GRCm39)		probably null	Het
Abcb1a	T	A	5: 8,765,016 (GRCm39)	C669S	probably benign	Het
Abcc3	A	G	11: 94,255,913 (GRCm39)	L524P	probably damaging	Het
Akap5	A	T	12: 76,376,745 (GRCm39)	K726*	probably null	Het
Aldh16a1	T	C	7: 44,791,441 (GRCm39)	E778G	probably damaging	Het
Ankle2	G	A	5: 110,400,610 (GRCm39)	V649M	possibly damaging	Het
Apon	A	G	10: 128,090,832 (GRCm39)	N170S	probably benign	Het
Baiap2l1	T	C	5: 144,217,764 (GRCm39)	Y274C	probably benign	Het
Bub1	A	T	2: 127,656,856 (GRCm39)	N425K	possibly damaging	Het
Camsap1	A	G	2: 25,820,028 (GRCm39)	C1487R	probably damaging	Het
Cd4	A	C	6: 124,844,651 (GRCm39)	V378G	probably damaging	Het
Cenpa	C	A	5: 30,824,380 (GRCm39)	P3Q	unknown	Het
Cfap44	T	C	16: 44,225,144 (GRCm39)		probably benign	Het
Ddx39a	G	T	8: 84,449,113 (GRCm39)	M300I	probably benign	Het
Dgkh	T	C	14: 78,832,601 (GRCm39)	R819G	probably damaging	Het
Dlc1	A	T	8: 37,405,786 (GRCm39)	M1K	probably null	Het
Dnah9	A	G	11: 65,895,972 (GRCm39)	W2468R	probably benign	Het
Ebag9	A	T	15: 44,503,706 (GRCm39)	K177I	probably damaging	Het
Ehbp1	T	C	11: 22,101,184 (GRCm39)	I249V	probably damaging	Het
Fam171b	T	C	2: 83,710,365 (GRCm39)	V679A	probably damaging	Het
Gabbr2	G	A	4: 46,674,533 (GRCm39)	T818I	probably damaging	Het
Gcn1	T	C	5: 115,752,177 (GRCm39)	S2098P	probably damaging	Het
Glb1	T	C	9: 114,302,991 (GRCm39)	I609T	probably damaging	Het
Gm5916	T	G	9: 36,032,020 (GRCm39)	H88P	probably benign	Het
Gon4l	T	C	3: 88,786,618 (GRCm39)	S586P	probably benign	Het
Gzmg	T	A	14: 56,394,714 (GRCm39)	T185S	probably benign	Het
Hipk3	T	A	2: 104,276,936 (GRCm39)	D381V	probably damaging	Het
Hnrnpul2	C	A	19: 8,808,319 (GRCm39)	N681K	probably benign	Het
Hpdl	C	A	4: 116,678,372 (GRCm39)	G30C	probably damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Krt82	C	A	15: 101,450,260 (GRCm39)	V479L	probably benign	Het
Lama4	G	A	10: 38,924,124 (GRCm39)		probably null	Het
Lamc1	C	A	1: 153,097,434 (GRCm39)	E1537*	probably null	Het
Mab21l3	G	A	3: 101,730,594 (GRCm39)	T215M	probably benign	Het
Magi3	C	A	3: 103,923,073 (GRCm39)	V1215F	possibly damaging	Het
Mical2	T	A	7: 111,902,797 (GRCm39)	C89*	probably null	Het
Mitf	T	A	6: 97,994,835 (GRCm39)	V427D	probably benign	Het
Muc4	T	C	16: 32,589,102 (GRCm39)	V753A		Het
Myo16	G	A	8: 10,492,233 (GRCm39)	R725H	unknown	Het
Ncapg2	T	A	12: 116,402,287 (GRCm39)	D706E	probably damaging	Het
Ndst1	T	C	18: 60,824,268 (GRCm39)	D803G	probably benign	Het
Neb	A	T	2: 52,096,115 (GRCm39)	V5065D	probably damaging	Het
Npm3	G	A	19: 45,737,941 (GRCm39)	R19*	probably null	Het
Ntrk3	A	C	7: 77,896,966 (GRCm39)	N690K	possibly damaging	Het
Or7g32	T	C	9: 19,389,166 (GRCm39)	I127V	probably benign	Het
Or7g35	T	C	9: 19,495,950 (GRCm39)	I39T	probably benign	Het
Or8d4	C	A	9: 40,038,886 (GRCm39)	V124L	possibly damaging	Het
P3h2	G	A	16: 25,924,186 (GRCm39)	A83V	probably benign	Het
Pdia2	A	G	17: 26,415,910 (GRCm39)	S362P	probably damaging	Het
Pmp22	C	T	11: 63,025,268 (GRCm39)	H34Y	probably benign	Het
Pmp22	T	C	11: 63,025,317 (GRCm39)	V50A	probably benign	Het
Ppfia4	T	C	1: 134,255,006 (GRCm39)	D283G	probably damaging	Het
Pramel58	T	C	5: 94,831,755 (GRCm39)	V254A	probably benign	Het
Prss55	T	A	14: 64,314,531 (GRCm39)	Q213L	probably null	Het
Rgsl1	C	T	1: 153,669,613 (GRCm39)	E258K	possibly damaging	Het
Ripor2	T	C	13: 24,897,632 (GRCm39)	F777L	probably benign	Het
Rsf1	GGC	GGCGGCGGCCGC	7: 97,229,140 (GRCm39)		probably benign	Het
Sgce	G	A	6: 4,711,362 (GRCm39)	R173C	probably benign	Het
Sncaip	T	G	18: 53,040,011 (GRCm39)	M735R	probably benign	Het
Snrpd2	T	A	7: 18,886,505 (GRCm39)	I96N	probably damaging	Het
Spryd3	T	G	15: 102,039,110 (GRCm39)	D121A	probably damaging	Het
Srsf3-ps	A	G	11: 98,516,187 (GRCm39)	V62A	possibly damaging	Het
Sspo	T	C	6: 48,472,223 (GRCm39)	C149R	probably damaging	Het
Tbc1d10b	A	T	7: 126,807,105 (GRCm39)	M144K	probably benign	Het
Tbc1d31	T	A	15: 57,779,485 (GRCm39)	I66N	probably damaging	Het
Tssk1	A	G	16: 17,712,457 (GRCm39)	T81A	possibly damaging	Het
Ttc28	A	G	5: 111,249,902 (GRCm39)	Y284C	probably damaging	Het
Ttn	T	C	2: 76,573,755 (GRCm39)	T25713A	probably benign	Het
Vmn2r125	T	C	4: 156,703,554 (GRCm39)	W311R	probably damaging	Het
Vmn2r80	A	T	10: 79,030,438 (GRCm39)	T755S	probably benign	Het
Vmn2r98	T	C	17: 19,301,481 (GRCm39)	C828R	probably damaging	Het
Wwox	T	C	8: 115,438,978 (GRCm39)	F348S	probably damaging	Het
Zeb2	T	A	2: 45,000,040 (GRCm39)	R65W	possibly damaging	Het
Zfp712	T	A	13: 67,188,637 (GRCm39)	H630L	probably damaging	Het
Zfp764	G	T	7: 127,004,608 (GRCm39)	H174Q	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
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
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
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'- TAGCTTACCTGTGCCGAGTG -3'
(R):5'- AAATGCCAGGATCTACGTTAAGAC -3'

Sequencing Primer
(F):5'- AGGTGAGCTCCTTGGCAG -3'
(R):5'- TCTACGTTAAGACAGGACAGTGCC -3'

Posted On

2022-02-07