Mutagenetix > Incidental Mutations

Incidental Mutation 'R8399:Dnaaf3'

647762

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf3

Ensembl Gene

ENSMUSG00000055809

Gene Name

dynein, axonemal assembly factor 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.449) question?

Stock #

R8399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4522933-4532453 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 4523937 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094897] [ENSMUST00000098859] [ENSMUST00000140424] [ENSMUST00000154913] [ENSMUST00000209148]

Predicted Effect

probably null
Transcript: ENSMUST00000094897

SMART Domains

Protein: ENSMUSP00000092498
Gene: ENSMUSG00000055809

Domain	Start	End	E-Value	Type
Pfam:DUF4470	16	122	1.3e-27	PFAM
Pfam:DUF4471	154	436	5.3e-104	PFAM
internal_repeat_1	467	512	1.63e-5	PROSPERO
internal_repeat_1	525	568	1.63e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000098859

SMART Domains

Protein: ENSMUSP00000096458
Gene: ENSMUSG00000035458

Domain	Start	End	E-Value	Type
Pfam:Troponin-I_N	1	32	1e-10	PFAM
Pfam:Troponin	47	178	3.6e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140424

SMART Domains

Protein: ENSMUSP00000115015
Gene: ENSMUSG00000035458

Domain	Start	End	E-Value	Type
Pfam:Troponin-I_N	1	32	1.1e-14	PFAM
Pfam:Troponin	47	125	3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154913

SMART Domains

Protein: ENSMUSP00000122916
Gene: ENSMUSG00000035458

Domain	Start	End	E-Value	Type
Pfam:Troponin-I_N	1	32	9e-15	PFAM
Pfam:Troponin	47	112	1.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209148

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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 required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and complex congenital heart disease associated with heterotaxy, abdominal organ situs anomalies and immotile respiratory cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,489,170	V3384D	possibly damaging	Het
Apba3	C	A	10: 81,268,998	T35N	probably benign	Het
Bcl6	T	C	16: 23,972,948	M219V	probably benign	Het
Bco2	T	A	9: 50,541,118	T217S	probably benign	Het
C1s1	C	T	6: 124,535,293	V277I	probably benign	Het
Ccdc162	T	A	10: 41,539,521	R2149W	probably damaging	Het
Cers6	T	C	2: 68,861,771	F46L	probably benign	Het
Chpf	T	C	1: 75,476,220	I359V	probably benign	Het
Chrnb4	A	C	9: 55,043,823	L52R	probably benign	Het
Cox6a1	T	C	5: 115,345,899	T95A	probably damaging	Het
Def8	T	A	8: 123,455,499	Y197*	probably null	Het
Dmbt1	C	G	7: 131,082,587	D778E	unknown	Het
Dnm1l	T	A	16: 16,321,672	H484L	probably damaging	Het
Eml1	G	A	12: 108,538,131	S783N	possibly damaging	Het
Frmd4a	T	C	2: 4,572,433	S367P	probably damaging	Het
Hck	A	C	2: 153,138,317	K355N	probably damaging	Het
Hexim2	G	T	11: 103,138,503	R127L	probably damaging	Het
Hivep2	T	C	10: 14,132,434	L1592P	possibly damaging	Het
Htr1d	G	A	4: 136,443,375	G305E	probably damaging	Het
Ifi207	G	A	1: 173,730,278	S298L	unknown	Het
Ighv1-11	A	G	12: 114,612,427	V56A	possibly damaging	Het
Ighv7-1	G	A	12: 113,896,912	T12I	unknown	Het
Kctd14	T	C	7: 97,457,604	L22P	probably damaging	Het
Klra17	T	C	6: 129,874,937		probably benign	Het
Kndc1	C	T	7: 139,913,518	R467W	probably damaging	Het
Maf	T	A	8: 115,706,512	I118F	unknown	Het
Mppe1	T	C	18: 67,225,875	T341A	probably benign	Het
Mtmr2	T	A	9: 13,792,067	V186E	probably benign	Het
Nedd9	G	T	13: 41,318,474	Y176*	probably null	Het
Olfr1145	A	C	2: 87,810,224	M135L	probably damaging	Het
Olfr1238	T	C	2: 89,406,684	T132A	probably benign	Het
Omd	A	G	13: 49,589,869	I132V	possibly damaging	Het
Pcnx4	T	A	12: 72,574,211	M935K	probably benign	Het
Pecr	G	A	1: 72,267,465	T219I	probably benign	Het
Pkd1l3	C	T	8: 109,623,888	P455L	possibly damaging	Het
Plcg2	T	C	8: 117,596,362	Y719H	probably damaging	Het
Plk4	C	T	3: 40,808,830	R479*	probably null	Het
Pms1	T	A	1: 53,267,932		probably null	Het
Raph1	C	T	1: 60,489,318	S928N	unknown	Het
Rtp4	G	T	16: 23,520,414		probably benign	Het
Skor1	C	T	9: 63,145,158	V510I	possibly damaging	Het
Smg1	T	C	7: 118,190,571	T699A	unknown	Het
Tcp11l1	T	C	2: 104,685,375	D381G	probably benign	Het
Tnik	T	A	3: 28,494,010	M56K	unknown	Het
Trappc9	G	A	15: 73,052,282	R204C	probably damaging	Het
Trmt10b	A	T	4: 45,305,870	M184L	possibly damaging	Het
Vmn1r224	T	A	17: 20,419,749	I196N	probably damaging	Het
Vmn1r49	A	T	6: 90,072,707	C104*	probably null	Het
Vmn2r35	A	C	7: 7,816,898	S124R	probably benign	Het
Wdr62	T	C	7: 30,258,061	E547G	probably damaging	Het
Zfp68	A	T	5: 138,607,820	D80E	probably benign	Het

Other mutations in Dnaaf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02197:Dnaaf3	APN	7	4527497	missense	probably damaging	1.00
IGL02319:Dnaaf3	APN	7	4523947	missense	probably damaging	1.00
IGL02805:Dnaaf3	APN	7	4523705	missense	possibly damaging	0.64
R1818:Dnaaf3	UTSW	7	4523569	splice site	probably null
R1818:Dnaaf3	UTSW	7	4523570	missense	probably benign	0.35
R2063:Dnaaf3	UTSW	7	4523799	missense	possibly damaging	0.87
R2064:Dnaaf3	UTSW	7	4523799	missense	possibly damaging	0.87
R2066:Dnaaf3	UTSW	7	4523799	missense	possibly damaging	0.87
R2068:Dnaaf3	UTSW	7	4523799	missense	possibly damaging	0.87
R2132:Dnaaf3	UTSW	7	4523801	missense	probably benign	0.00
R2363:Dnaaf3	UTSW	7	4532277	critical splice acceptor site	probably null
R4710:Dnaaf3	UTSW	7	4526494	missense	probably damaging	1.00
R4803:Dnaaf3	UTSW	7	4526904	missense	probably benign	0.14
R4939:Dnaaf3	UTSW	7	4527145	missense	probably damaging	1.00
R5487:Dnaaf3	UTSW	7	4523865	splice site	probably null
R5846:Dnaaf3	UTSW	7	4523687	missense	possibly damaging	0.73
R6084:Dnaaf3	UTSW	7	4524213	missense	probably benign	0.00
R6218:Dnaaf3	UTSW	7	4523672	missense	probably benign	0.23
R6576:Dnaaf3	UTSW	7	4523380	missense	probably benign	0.41
R6916:Dnaaf3	UTSW	7	4527533	missense	probably damaging	1.00
R7219:Dnaaf3	UTSW	7	4528077	missense	probably damaging	1.00
Z1088:Dnaaf3	UTSW	7	4523795	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCTCGCAAAAGTCTCCGAG -3'
(R):5'- AAGAGACCTAGGATTGGGCC -3'

Sequencing Primer
(F):5'- CGCAAAAGTCTCCGAGGGTTTG -3'
(R):5'- GCCCCAGTTTATTCGTTGTCAGAAG -3'

Posted On

2020-09-02