Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Dnaaf2'

514348

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf2

Ensembl Gene

ENSMUSG00000020973

Gene Name

dynein, axonemal assembly factor 2

Synonyms

2810020C19Rik, kintoun, Ktu, 1110034A24Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6338 (G1)

Quality Score

181.009

Status

Not validated

Chromosome

Chromosomal Location

69189087-69198429 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69198122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 55 (E55G)

Ref Sequence

ENSEMBL: ENSMUSP00000021356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021356] [ENSMUST00000021359] [ENSMUST00000221411] [ENSMUST00000222699]

AlphaFold

Q8BPI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000021356
AA Change: E55G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973
AA Change: E55G

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
Pfam:PIH1	43	352	2e-99	PFAM
low complexity region	360	373	N/A	INTRINSIC
SCOP:d1keka4	398	460	4e-3	SMART
low complexity region	672	693	N/A	INTRINSIC
low complexity region	734	743	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000021359

SMART Domains

Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974

Domain	Start	End	E-Value	Type
Pfam:Dpoe2NT	2	74	1.9e-32	PFAM
Pfam:DNA_pol_E_B	287	489	1.4e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181850

SMART Domains

Protein: ENSMUSP00000137753
Gene: ENSMUSG00000097061

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
low complexity region	46	59	N/A	INTRINSIC
low complexity region	74	87	N/A	INTRINSIC
low complexity region	113	132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221986

Predicted Effect

probably benign
Transcript: ENSMUST00000222699

Predicted Effect

probably benign
Transcript: ENSMUST00000223192

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in the human gene have been associated with primary ciliary dyskinesia. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, reduced body size, situs inversus totalis, hydroencephaly and abnormal brain ependymal and tracheal cilia morphology and motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 98,257,715	Y128C	probably damaging	Het
Adam30	T	G	3: 98,161,541	I102S	probably damaging	Het
Adcy8	A	T	15: 64,920,617	D163E	possibly damaging	Het
Agrn	C	T	4: 156,170,585	E1614K	probably benign	Het
Aldh16a1	A	T	7: 45,141,961	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,845,570	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,833,725	S738G	probably benign	Het
Arid5b	C	A	10: 68,098,561	G504*	probably null	Het
Carmil3	T	C	14: 55,499,849	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,849,154	D186V	probably damaging	Het
Cdh23	T	C	10: 60,413,151	D882G	probably damaging	Het
Cdh4	T	C	2: 179,890,812	V689A	probably damaging	Het
Cntn6	T	A	6: 104,726,139	V174E	probably damaging	Het
Col7a1	C	T	9: 108,956,633	T390M	unknown	Het
Crybg1	T	C	10: 43,992,509	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,932,492	K2725T	possibly damaging	Het
Fam13a	A	G	6: 58,953,499	V476A	probably damaging	Het
Fem1b	A	T	9: 62,797,011	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489	V466I	probably benign	Het
Gm11639	C	T	11: 104,843,208	R2027*	probably null	Het
Gm20671	A	T	5: 32,820,647	D1794E	probably damaging	Het
Gpatch2	G	T	1: 187,225,514	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,816,456	T450A	probably benign	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Krit1	T	G	5: 3,836,857	M702R	probably benign	Het
Krt34	T	C	11: 100,038,490	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,547,316	N376K	possibly damaging	Het
Myo15	A	G	11: 60,478,133	E573G	probably damaging	Het
Olfr1224-ps1	T	A	2: 89,156,371	K268I	probably damaging	Het
Olfr1390	A	G	11: 49,340,867	S112G	probably benign	Het
Olfr366	A	T	2: 37,219,822	D111V	probably damaging	Het
Olfr391-ps	A	T	11: 73,799,319	L146Q	possibly damaging	Het
Olfr661	T	A	7: 104,688,171	V52E	possibly damaging	Het
Olfr736	T	A	14: 50,393,400	F215I	possibly damaging	Het
Phf20	A	T	2: 156,273,686	Q309L	possibly damaging	Het
Plcd1	G	A	9: 119,074,991	R292C	probably damaging	Het
Pold3	A	G	7: 100,088,105	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,739,679		probably null	Het
Ptprcap	A	G	19: 4,156,224	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,341,378	E843G	possibly damaging	Het
Rai14	T	C	15: 10,574,976	D632G	probably damaging	Het
Rnf149	A	T	1: 39,560,742	C268S	probably null	Het
Slc6a13	T	A	6: 121,334,839	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,384,043		probably null	Het
Slf1	T	A	13: 77,084,462		probably null	Het
Stard9	G	A	2: 120,697,485	V1408I	probably benign	Het
Suclg1	T	C	6: 73,264,246	I183T	probably damaging	Het
Syne1	T	C	10: 5,255,475	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,729,376	R121*	probably null	Het
Tdpoz2	C	T	3: 93,652,336	V110I	probably benign	Het
Ubn2	A	G	6: 38,490,714	T788A	probably benign	Het
Unc13c	T	A	9: 73,734,447	I1255F	probably damaging	Het
Usp44	G	T	10: 93,846,513	R275I	probably damaging	Het
Uspl1	A	G	5: 149,215,034	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,299,045	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,758,590	D170E	possibly damaging	Het

Other mutations in Dnaaf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Dnaaf2	APN	12	69196766	missense	probably benign	0.23
IGL01321:Dnaaf2	APN	12	69196602	missense	probably damaging	1.00
IGL01880:Dnaaf2	APN	12	69190037	missense	probably benign	0.17
R0329:Dnaaf2	UTSW	12	69197744	missense	probably damaging	1.00
R0330:Dnaaf2	UTSW	12	69197744	missense	probably damaging	1.00
R1051:Dnaaf2	UTSW	12	69197795	missense	probably damaging	1.00
R1668:Dnaaf2	UTSW	12	69196691	missense	probably benign	0.04
R2011:Dnaaf2	UTSW	12	69196785	missense	probably damaging	1.00
R2179:Dnaaf2	UTSW	12	69198297	unclassified	probably benign
R2243:Dnaaf2	UTSW	12	69196644	missense	possibly damaging	0.83
R2356:Dnaaf2	UTSW	12	69198218	missense	probably benign	0.01
R4120:Dnaaf2	UTSW	12	69198038	missense	possibly damaging	0.85
R5086:Dnaaf2	UTSW	12	69197286	missense	probably damaging	1.00
R5205:Dnaaf2	UTSW	12	69192924	missense	probably damaging	1.00
R5300:Dnaaf2	UTSW	12	69198228	missense	probably damaging	0.99
R5399:Dnaaf2	UTSW	12	69196742	missense	probably damaging	0.97
R5739:Dnaaf2	UTSW	12	69196941	missense	probably benign
R5765:Dnaaf2	UTSW	12	69192853	missense	probably damaging	1.00
R5872:Dnaaf2	UTSW	12	69197348	missense	probably damaging	1.00
R6043:Dnaaf2	UTSW	12	69197348	missense	probably damaging	1.00
R6503:Dnaaf2	UTSW	12	69197511	missense	probably benign	0.42
R6524:Dnaaf2	UTSW	12	69190385	missense	probably benign	0.43
R6895:Dnaaf2	UTSW	12	69197663	missense	probably benign	0.04
R7490:Dnaaf2	UTSW	12	69197606	missense	probably damaging	1.00
R7971:Dnaaf2	UTSW	12	69197345	missense	probably damaging	1.00
R8209:Dnaaf2	UTSW	12	69198092	missense	probably damaging	1.00
R8790:Dnaaf2	UTSW	12	69197294	missense	probably damaging	1.00
R9210:Dnaaf2	UTSW	12	69197828	missense	probably damaging	1.00
R9548:Dnaaf2	UTSW	12	69198002	missense	probably damaging	1.00
Z1176:Dnaaf2	UTSW	12	69197850	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTTGTACTTGATCTTCAGGG -3'
(R):5'- TGATCCTTCACTGGGTCTGG -3'

Sequencing Primer
(F):5'- GGAAGACCACGTCGTAGAC -3'
(R):5'- CTTCACTGGGTCTGGGCATTG -3'

Posted On

2018-04-27