Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02576:Cfap65'

299217

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap65

Ensembl Gene

ENSMUSG00000047021

Gene Name

cilia and flagella associated protein 65

Synonyms

Ccdc108, B230363K08Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.720) question?

Stock #

IGL02576

Quality Score

Status

Chromosome

Chromosomal Location

74941230-74974758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74942617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1646 (S1646P)

Ref Sequence

ENSEMBL: ENSMUSP00000092440 (fasta)

Gene Model

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

AlphaFold

Q3V0B4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083682

Predicted Effect

probably damaging
Transcript: ENSMUST00000094844
AA Change: S1646P

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

SMART Domains

Protein: ENSMUSP00000092440
Gene: ENSMUSG00000047021
AA Change: S1646P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160540

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,032,678 (GRCm39)	I232M	probably benign	Het
Ace	G	A	11: 105,864,937 (GRCm39)	V537M	probably damaging	Het
Alg1	A	G	16: 5,062,393 (GRCm39)	E425G	possibly damaging	Het
Cacng3	G	A	7: 122,271,133 (GRCm39)	S46N	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cimap2	T	C	4: 106,448,825 (GRCm39)	D411G	possibly damaging	Het
Col20a1	C	T	2: 180,655,198 (GRCm39)	Q1152*	probably null	Het
D130043K22Rik	A	C	13: 25,040,853 (GRCm39)	T92P	possibly damaging	Het
Drc3	T	C	11: 60,261,377 (GRCm39)	M176T	probably benign	Het
Esyt3	T	C	9: 99,197,278 (GRCm39)	R851G	probably benign	Het
Fbxo43	A	G	15: 36,152,321 (GRCm39)	V496A	probably benign	Het
Fut4	T	A	9: 14,662,701 (GRCm39)	M198L	probably damaging	Het
Galt	C	T	4: 41,755,953 (GRCm39)		probably benign	Het
Glipr1l1	A	G	10: 111,896,224 (GRCm39)	K4E	possibly damaging	Het
Gm9945	A	G	11: 53,371,178 (GRCm39)		probably benign	Het
Hspa12a	A	C	19: 58,787,842 (GRCm39)	I660R	possibly damaging	Het
Htr3b	T	C	9: 48,856,804 (GRCm39)	I225V	possibly damaging	Het
Igf2r	T	C	17: 12,967,650 (GRCm39)	D23G	possibly damaging	Het
Igsf5	A	G	16: 96,187,781 (GRCm39)	I158V	probably benign	Het
Itgae	A	G	11: 73,009,331 (GRCm39)	Y505C	possibly damaging	Het
Kif16b	A	G	2: 142,704,465 (GRCm39)		probably benign	Het
Kif26b	T	C	1: 178,743,912 (GRCm39)	V1336A	probably benign	Het
Kmt2d	A	G	15: 98,762,001 (GRCm39)	S450P	unknown	Het
Lhfpl2	G	A	13: 94,310,734 (GRCm39)	M1I	probably null	Het
Lig4	A	G	8: 10,021,116 (GRCm39)	I888T	probably damaging	Het
Msh4	G	A	3: 153,573,383 (GRCm39)	T563M	probably damaging	Het
Muc5ac	C	T	7: 141,370,781 (GRCm39)	A3238V	probably benign	Het
Myo15b	A	G	11: 115,780,879 (GRCm39)	S1246G	probably null	Het
Or5h25	T	C	16: 58,930,134 (GRCm39)	I280V	probably benign	Het
Pecam1	G	A	11: 106,562,600 (GRCm39)	T599M	probably damaging	Het
Phf3	G	A	1: 30,869,117 (GRCm39)	P644S	probably benign	Het
Pkd1l1	A	C	11: 8,794,560 (GRCm39)	F2317C	possibly damaging	Het
Prdm4	A	G	10: 85,736,801 (GRCm39)	M613T	possibly damaging	Het
Prim2	A	T	1: 33,523,798 (GRCm39)	I371N	probably damaging	Het
Ptprs	T	C	17: 56,721,958 (GRCm39)	D1316G	probably damaging	Het
Rnf19b	C	T	4: 128,967,315 (GRCm39)	R285*	probably null	Het
Secisbp2	A	G	13: 51,824,894 (GRCm39)	N381D	possibly damaging	Het
Slc28a2	T	C	2: 122,288,652 (GRCm39)	I586T	probably damaging	Het
Spef1	T	C	2: 131,016,562 (GRCm39)	H11R	possibly damaging	Het
Taar4	T	C	10: 23,836,909 (GRCm39)	L173S	probably damaging	Het
Tas2r123	T	C	6: 132,824,703 (GRCm39)	F200S	possibly damaging	Het
Tex16	T	A	X: 111,028,653 (GRCm39)	L384Q	probably benign	Het
Tox2	A	G	2: 163,118,100 (GRCm39)	Q168R	probably damaging	Het
Trim5	T	A	7: 103,927,624 (GRCm39)	E172V	probably damaging	Het
Txndc11	G	A	16: 10,892,881 (GRCm39)		probably benign	Het
Vmn1r232	T	A	17: 21,134,175 (GRCm39)	I142F	probably benign	Het
Zdhhc25	A	T	15: 88,485,472 (GRCm39)	H269L	probably benign	Het
Znrf4	T	C	17: 56,819,199 (GRCm39)	D36G	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
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	74,941,606 (GRCm39)	missense	probably damaging	0.98
R1079:Cfap65	UTSW	1	74,944,872 (GRCm39)	missense	probably damaging	0.99
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
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

Posted On

2015-04-16