Mutagenetix > Incidental Mutations

Incidental Mutation 'R4581:Dnaaf5'

343668

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf5

Ensembl Gene

ENSMUSG00000025857

Gene Name

dynein, axonemal assembly factor 5

Synonyms

Heatr2

MMRRC Submission

041802-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R4581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139150223-139186510 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139184685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 502 (D502E)

Ref Sequence

ENSEMBL: ENSMUSP00000142924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026975] [ENSMUST00000196441]

AlphaFold

B9EJR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026975
AA Change: D797E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026975
Gene: ENSMUSG00000025857
AA Change: D797E

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
low complexity region	43	59	N/A	INTRINSIC
low complexity region	73	83	N/A	INTRINSIC
low complexity region	91	153	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
Pfam:Vac14_Fab1_bd	673	770	2.4e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000196441
AA Change: D502E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142924
Gene: ENSMUSG00000025857
AA Change: D502E

Domain	Start	End	E-Value	Type
Pfam:Vac14_Fab1_bd	378	475	4.1e-5	PFAM
Pfam:HEAT	447	477	1.7e-3	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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 is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,171,798	P20T	possibly damaging	Het
3425401B19Rik	G	T	14: 32,661,871	S712R	possibly damaging	Het
4933427I04Rik	A	G	4: 123,860,353	D20G	possibly damaging	Het
Abca7	A	G	10: 80,006,568	D1112G	probably benign	Het
Actc1	G	T	2: 114,049,608	H175N	possibly damaging	Het
Adgrd1	C	T	5: 129,202,531	A863V	possibly damaging	Het
Ankrd17	T	C	5: 90,283,120	D935G	possibly damaging	Het
Ankrd7	T	A	6: 18,868,021	N95K	probably damaging	Het
Arhgef4	G	A	1: 34,732,124	E1171K	possibly damaging	Het
Ascc3	T	C	10: 50,711,025	I991T	probably damaging	Het
Cacna1s	T	A	1: 136,070,970		probably null	Het
Camk1d	A	T	2: 5,354,704	V177E	probably benign	Het
Cdh18	T	A	15: 23,226,783	I110N	probably damaging	Het
Cenpe	A	G	3: 135,247,000	K1484E	probably benign	Het
Cep68	A	G	11: 20,239,333	S560P	probably benign	Het
Cog3	G	T	14: 75,732,951	T352K	probably benign	Het
Cox6a2	A	G	7: 128,205,980	S44P	possibly damaging	Het
Csmd2	T	C	4: 128,369,088	V689A	probably benign	Het
Ddx60	A	T	8: 62,023,261	M1548L	possibly damaging	Het
Dennd5b	G	T	6: 149,016,984		silent	Het
Dlgap2	T	C	8: 14,846,679	Y1052H	probably damaging	Het
Efhb	C	A	17: 53,426,275	A523S	probably damaging	Het
Epha8	C	T	4: 136,933,464	V648M	probably damaging	Het
Fanca	C	T	8: 123,274,338		probably null	Het
Fbxw7	G	A	3: 84,967,545	E205K	probably benign	Het
Fer1l6	C	T	15: 58,640,226	T1514I	probably damaging	Het
Gm12886	T	C	4: 121,416,683	E112G	probably damaging	Het
Gm7535	T	C	17: 17,911,083		probably benign	Het
Irf2bp2	T	A	8: 126,591,255	Q524L	probably damaging	Het
Itih4	A	G	14: 30,900,968	D864G	probably benign	Het
Kdm4c	T	G	4: 74,357,339		probably null	Het
Ltn1	A	T	16: 87,402,024		probably null	Het
Mafa	G	T	15: 75,747,736	P63T	unknown	Het
Mars2	T	A	1: 55,237,862	L208H	probably damaging	Het
Myom2	A	G	8: 15,106,459	I769V	probably benign	Het
Nyap1	A	G	5: 137,736,022	S250P	probably damaging	Het
Olfr1082	A	T	2: 86,594,228	M200K	probably benign	Het
Osmr	C	T	15: 6,842,894	V240I	probably benign	Het
Pcdhga3	A	G	18: 37,676,881	T796A	probably benign	Het
Pclo	T	C	5: 14,675,505	V1459A	unknown	Het
Phactr3	A	C	2: 178,283,172	H300P	probably damaging	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plcd4	T	A	1: 74,548,224	W48R	probably damaging	Het
Prdm16	A	G	4: 154,323,353	S1140P	probably damaging	Het
Rarg	A	C	15: 102,252,551	S18A	possibly damaging	Het
Rfx4	T	A	10: 84,844,300	S114T	possibly damaging	Het
Sec14l4	G	A	11: 4,043,375		probably null	Het
Six1	T	G	12: 73,045,934	T165P	probably benign	Het
Skint4	T	C	4: 112,087,042	L17P	probably damaging	Het
Slc25a23	T	A	17: 57,052,740	Y337F	probably damaging	Het
Slc9a3	A	G	13: 74,164,165	Y627C	probably damaging	Het
Smu1	A	C	4: 40,737,401		probably null	Het
Spryd3	A	G	15: 102,130,364	S141P	probably damaging	Het
Src	A	T	2: 157,463,038	N175I	probably damaging	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,558,310		probably benign	Het
Stc2	A	G	11: 31,365,326		probably null	Het
Taf6l	T	C	19: 8,778,208	D261G	probably damaging	Het
Tal1	T	G	4: 115,064,722	V167G	probably damaging	Het
Tfec	G	A	6: 16,834,125	T261I	probably damaging	Het
Tgfb1	G	T	7: 25,697,230	S273I	possibly damaging	Het
Tmem8b	T	A	4: 43,685,760	V636E	probably damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Trappc11	A	T	8: 47,493,345	M1084K	probably damaging	Het
Trem3	A	C	17: 48,249,611	T37P	possibly damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Urb1	T	C	16: 90,788,146	D529G	probably benign	Het
Vmn2r8	T	A	5: 108,801,704	T426S	probably benign	Het
Yipf4	T	C	17: 74,499,094	Y243H	probably benign	Het
Zfp574	T	A	7: 25,081,313	C587S	probably damaging	Het
Zfp93	C	A	7: 24,275,668	H359Q	probably damaging	Het
Znfx1	T	C	2: 167,050,316	E660G	probably damaging	Het

Other mutations in Dnaaf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Dnaaf5	APN	5	139177946	missense	probably benign	0.19
IGL00730:Dnaaf5	APN	5	139151668	critical splice donor site	probably null
IGL01468:Dnaaf5	APN	5	139151480	splice site	probably null
IGL02106:Dnaaf5	APN	5	139151513	missense	probably damaging	1.00
IGL02273:Dnaaf5	APN	5	139177916	nonsense	probably null
IGL02514:Dnaaf5	APN	5	139174117	splice site	probably benign
IGL02572:Dnaaf5	APN	5	139184629	missense	probably benign	0.00
IGL02699:Dnaaf5	APN	5	139153350	splice site	probably benign
PIT4142001:Dnaaf5	UTSW	5	139185518	missense	possibly damaging	0.91
PIT4283001:Dnaaf5	UTSW	5	139166162	missense	probably benign	0.26
R0458:Dnaaf5	UTSW	5	139161878	missense	possibly damaging	0.47
R2060:Dnaaf5	UTSW	5	139178003	missense	probably damaging	1.00
R2162:Dnaaf5	UTSW	5	139181565	missense	possibly damaging	0.46
R3833:Dnaaf5	UTSW	5	139181565	missense	possibly damaging	0.46
R3944:Dnaaf5	UTSW	5	139152924	start gained	probably benign
R4438:Dnaaf5	UTSW	5	139163392	missense	probably damaging	1.00
R4534:Dnaaf5	UTSW	5	139151527	nonsense	probably null
R4576:Dnaaf5	UTSW	5	139185639	missense	probably damaging	0.98
R4715:Dnaaf5	UTSW	5	139178000	missense	probably damaging	0.99
R4791:Dnaaf5	UTSW	5	139184650	missense	possibly damaging	0.56
R4868:Dnaaf5	UTSW	5	139170186	missense	probably benign	0.01
R5011:Dnaaf5	UTSW	5	139163257	missense	probably damaging	1.00
R5074:Dnaaf5	UTSW	5	139174207	missense	probably damaging	1.00
R5137:Dnaaf5	UTSW	5	139181460	missense	probably damaging	1.00
R5215:Dnaaf5	UTSW	5	139161877	missense	probably benign	0.00
R5309:Dnaaf5	UTSW	5	139152862	missense	probably damaging	0.99
R5312:Dnaaf5	UTSW	5	139152862	missense	probably damaging	0.99
R6632:Dnaaf5	UTSW	5	139170333	missense	probably benign	0.04
R6863:Dnaaf5	UTSW	5	139151596	missense	probably damaging	0.96
R7292:Dnaaf5	UTSW	5	139150317	missense	unknown
R7439:Dnaaf5	UTSW	5	139166113	missense	probably damaging	1.00
R7571:Dnaaf5	UTSW	5	139170208	missense	possibly damaging	0.73
R7679:Dnaaf5	UTSW	5	139150637	missense	unknown
R7706:Dnaaf5	UTSW	5	139152841	missense	probably damaging	1.00
R7867:Dnaaf5	UTSW	5	139161810	missense	probably damaging	1.00
R8191:Dnaaf5	UTSW	5	139181495	missense	probably benign	0.06
R8354:Dnaaf5	UTSW	5	139161859	frame shift	probably null
R8355:Dnaaf5	UTSW	5	139161859	frame shift	probably null
R8990:Dnaaf5	UTSW	5	139170196	missense	probably damaging	1.00
R9178:Dnaaf5	UTSW	5	139152897	missense	probably damaging	1.00
X0020:Dnaaf5	UTSW	5	139163320	missense	probably damaging	0.99
Z1177:Dnaaf5	UTSW	5	139177975	missense	probably damaging	1.00
Z1177:Dnaaf5	UTSW	5	139185542	missense	probably benign	0.04
Z1177:Dnaaf5	UTSW	5	139185585	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCCCCACAGAGCTCTTGAAG -3'
(R):5'- CCTGCATCATGCTAAGCTGTTTG -3'

Sequencing Primer
(F):5'- AAGCGCCTAGATGATGTCTC -3'
(R):5'- AGATCGAGGGTATCCAATGTCCTC -3'

Posted On

2015-09-24