Mutagenetix > Incidental Mutation

Incidental Mutation 'R5312:Dnaaf5'

405642

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf5

Ensembl Gene

ENSMUSG00000025857

Gene Name

dynein, axonemal assembly factor 5

Synonyms

Heatr2

MMRRC Submission

042895-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.869) question?

Stock #

R5312 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

139150223-139186510 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139152862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 266 (V266E)

Ref Sequence

ENSEMBL: ENSMUSP00000026975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026975] [ENSMUST00000155833] [ENSMUST00000196441]

AlphaFold

B9EJR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026975
AA Change: V266E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026975
Gene: ENSMUSG00000025857
AA Change: V266E

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

noncoding transcript
Transcript: ENSMUST00000130180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151512

Predicted Effect

probably benign
Transcript: ENSMUST00000155833

SMART Domains

Protein: ENSMUSP00000122693
Gene: ENSMUSG00000025855

Domain	Start	End	E-Value	Type
RIIa	25	62	3.14e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196441

SMART Domains

Protein: ENSMUSP00000142924
Gene: ENSMUSG00000025857

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

Meta Mutation Damage Score

0.6366

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	C	7: 118,813,576	I629T	probably damaging	Het
Abca15	T	C	7: 120,345,369	V409A	probably damaging	Het
Abtb1	A	G	6: 88,838,258	F297L	probably damaging	Het
Adam22	C	A	5: 8,090,182	G202W	probably damaging	Het
Adgrg3	G	A	8: 95,039,864	V388I	probably benign	Het
Adnp	T	C	2: 168,184,188	T396A	probably benign	Het
Ank2	T	C	3: 126,959,768	Q288R	probably damaging	Het
Bdp1	T	C	13: 100,097,601		probably null	Het
Ccdc173	T	C	2: 69,787,258	T60A	possibly damaging	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Cntnap5c	A	T	17: 58,359,254	E1093V	probably benign	Het
Dmrta1	A	C	4: 89,692,047	N415H	probably damaging	Het
Dot1l	A	G	10: 80,784,637	Q511R	possibly damaging	Het
Ehmt1	A	G	2: 24,884,195	V201A	probably damaging	Het
Fancg	A	G	4: 43,003,019	F613L	probably benign	Het
Fbxo10	A	T	4: 45,042,036	I731N	possibly damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gm5155	T	G	7: 17,909,142	H492Q	probably damaging	Het
Gm6614	A	T	6: 141,972,332	F606Y	probably benign	Het
Ighv1-74	A	G	12: 115,802,881	S39P	probably damaging	Het
Kbtbd11	A	G	8: 15,028,589	D396G	possibly damaging	Het
Klc1	A	G	12: 111,795,621	K575R	possibly damaging	Het
Lman1l	A	T	9: 57,611,077	L343Q	probably damaging	Het
Mki67	A	T	7: 135,700,830	V825E	probably damaging	Het
Mus81	T	C	19: 5,483,494	K489R	possibly damaging	Het
Myog	A	G	1: 134,290,326	K91E	probably damaging	Het
Nfil3	A	T	13: 52,967,620	V416E	probably damaging	Het
Nup160	G	T	2: 90,732,832	E1314*	probably null	Het
Nwd2	C	T	5: 63,806,072	Q1000*	probably null	Het
Olfr1277	T	G	2: 111,270,310	D19A	probably benign	Het
Olfr1284	T	C	2: 111,379,834	V278A	possibly damaging	Het
Olfr790	T	A	10: 129,501,514	V210E	probably damaging	Het
Olfr792	A	C	10: 129,541,265	M243L	probably benign	Het
Ppp4r4	T	A	12: 103,606,888		probably null	Het
Pramef25	A	T	4: 143,949,095	I387N	possibly damaging	Het
Psg27	C	A	7: 18,557,033	R415L	probably benign	Het
Ptprr	T	A	10: 116,188,419	S212T	probably benign	Het
Ramp3	T	C	11: 6,674,888	F61L	probably damaging	Het
Rap1gds1	A	G	3: 138,958,628	L322P	probably damaging	Het
Rnf5	A	G	17: 34,601,588	F175S	probably benign	Het
Sema4a	G	A	3: 88,437,036	S636F	probably damaging	Het
Sfrp2	A	G	3: 83,769,401	D193G	probably damaging	Het
Slc26a5	T	C	5: 21,847,260	S24G	probably damaging	Het
Spg21	A	G	9: 65,468,802	I31V	probably benign	Het
Tmem45a2	T	C	16: 57,039,007	D287G	possibly damaging	Het
Utrn	A	T	10: 12,727,769	D627E	probably damaging	Het
Vmn2r103	A	T	17: 19,793,034	N139I	probably benign	Het
Washc5	A	T	15: 59,345,528		probably null	Het
Zfp667	T	C	7: 6,305,467	I378T	probably benign	Het
Zfp949	A	C	9: 88,567,183	T14P	possibly 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
R4581:Dnaaf5	UTSW	5	139184685	missense	probably damaging	1.00
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
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
R9447:Dnaaf5	UTSW	5	139177988	missense	probably damaging	0.96
R9646:Dnaaf5	UTSW	5	139166077	missense	probably benign	0.00
R9649:Dnaaf5	UTSW	5	139174154	missense	probably benign	0.00
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'- AACACGGTATATTGCCAGGGG -3'
(R):5'- AGCAAAGCTCTTGTTCCAAATC -3'

Sequencing Primer
(F):5'- TATATTGCCAGGGGACAGTGAATCC -3'
(R):5'- AGCTCTTGTTCCAAATCAGGCAG -3'

Posted On

2016-07-22