Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02805:Dnaaf3'

360388

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnaaf3

Ensembl Gene

ENSMUSG00000055809

Gene Name

dynein, axonemal assembly factor 3

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

IGL02805

Quality Score

Status

Chromosome

Chromosomal Location

4522933-4532453 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4523705 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 458 (G458R)

Ref Sequence

ENSEMBL: ENSMUSP00000092498 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094897
AA Change: G458R

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092498
Gene: ENSMUSG00000055809
AA Change: G458R

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

noncoding transcript
Transcript: ENSMUST00000123390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126873

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132621

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

noncoding transcript
Transcript: ENSMUST00000150166

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

noncoding transcript
Transcript: ENSMUST00000205662

Predicted Effect

probably benign
Transcript: ENSMUST00000209148

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 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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,223,133		probably benign	Het
Ankdd1b	A	G	13: 96,444,302	S163P	probably benign	Het
Ap5z1	G	A	5: 142,470,283		probably benign	Het
Asb14	A	G	14: 26,901,187	N172S	possibly damaging	Het
Avil	G	A	10: 127,007,617	V139I	possibly damaging	Het
C130073F10Rik	A	T	4: 101,890,974	M1K	probably null	Het
Ccdc189	T	C	7: 127,586,394	D121G	possibly damaging	Het
Ccdc33	T	A	9: 58,098,591	I37F	probably benign	Het
Ccdc9	T	C	7: 16,275,274	M550V	probably benign	Het
Cgn	T	A	3: 94,774,377	L469F	probably damaging	Het
Dscaml1	T	A	9: 45,447,897	N151K	probably damaging	Het
Dsel	A	G	1: 111,862,316	V163A	probably damaging	Het
Dusp27	T	C	1: 166,099,061	E994G	probably damaging	Het
Epg5	A	G	18: 78,030,191		probably benign	Het
Fanca	A	T	8: 123,289,494	I670N	probably damaging	Het
Fsip2	T	C	2: 82,993,495	V6524A	probably benign	Het
Gm10985	T	C	3: 53,845,093		probably null	Het
Gm1818	C	T	12: 48,555,735		noncoding transcript	Het
Hars2	C	T	18: 36,787,577	R158*	probably null	Het
Htr5b	A	G	1: 121,527,888	V101A	probably damaging	Het
Ipp	A	G	4: 116,529,688	I356V	possibly damaging	Het
Itga8	T	A	2: 12,189,480	N703I	possibly damaging	Het
Olfr147	T	A	9: 38,403,836		probably benign	Het
Ppp6r3	T	C	19: 3,492,428	N406D	probably benign	Het
Rbbp6	G	A	7: 123,001,188		probably benign	Het
Rgs7	T	C	1: 175,149,696	Y114C	probably damaging	Het
Ripor1	A	G	8: 105,617,571	T446A	probably damaging	Het
Rnf213	A	G	11: 119,435,066	D1562G	probably damaging	Het
Scaf11	A	T	15: 96,420,182	D500E	possibly damaging	Het
Spock1	A	G	13: 57,907,577	I4T	possibly damaging	Het
Srebf2	C	A	15: 82,169,844	N35K	probably benign	Het
Srgap3	G	T	6: 112,727,263	H922N	probably damaging	Het
Stk32c	A	C	7: 139,121,846	H112Q	probably damaging	Het
Thumpd3	A	G	6: 113,066,797	D391G	probably damaging	Het
Vmn2r38	T	A	7: 9,075,547	H612L	probably damaging	Het
Vsig10l	T	G	7: 43,465,242	I289S	probably damaging	Het
Wwox	G	A	8: 114,712,013	G273E	probably damaging	Het
Zscan4d	T	G	7: 11,164,970		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
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
R8399:Dnaaf3	UTSW	7	4523937	critical splice donor site	probably null
R8678:Dnaaf3	UTSW	7	4530815	missense	probably damaging	1.00
Z1088:Dnaaf3	UTSW	7	4523795	missense	probably damaging	0.99

Posted On

2015-12-18