Mutagenetix > Incidental Mutation

Incidental Mutation 'R9607:Dnaaf1'

723942

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf1

Ensembl Gene

ENSMUSG00000031831

Gene Name

dynein, axonemal assembly factor 1

Synonyms

Lrrc50, m4Bei, 4930457P18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.815) question?

Stock #

R9607 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120301974-120325193 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120309350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 146 (E146G)

Ref Sequence

ENSEMBL: ENSMUSP00000090790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093100]

AlphaFold

Q9D2H9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093100
AA Change: E146G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090790
Gene: ENSMUSG00000031831
AA Change: E146G

Domain	Start	End	E-Value	Type
Pfam:LRR_9	115	298	5.7e-10	PFAM
low complexity region	322	332	N/A	INTRINSIC
low complexity region	482	501	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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 cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit partial postnatal lethality, domed cranium, enlarged lateral ventricles, abnormal hippocampus morphology, and thin cerebral cortex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,914,068 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,817,250 (GRCm39)	Y927C		Het
Bckdhb	A	G	9: 83,871,344 (GRCm39)	I208V	probably benign	Het
Cacna1g	T	C	11: 94,356,714 (GRCm39)	I141V	probably benign	Het
Celsr1	A	G	15: 85,915,229 (GRCm39)	S915P		Het
Celsr3	G	A	9: 108,717,701 (GRCm39)		probably null	Het
Cep295	A	T	9: 15,234,009 (GRCm39)	D2262E	probably damaging	Het
Chil3	T	C	3: 106,067,685 (GRCm39)	K160R	probably null	Het
Cmtr1	G	T	17: 29,893,196 (GRCm39)	A72S	probably benign	Het
Cpa5	T	C	6: 30,626,338 (GRCm39)	F233S	probably damaging	Het
Creb3l3	G	A	10: 80,920,735 (GRCm39)	R432W	probably damaging	Het
Csdc2	A	G	15: 81,831,088 (GRCm39)	D45G	possibly damaging	Het
Csmd3	G	T	15: 47,618,811 (GRCm39)	T1859K	probably damaging	Het
Cxxc1	T	C	18: 74,353,479 (GRCm39)		probably null	Het
Dcc	A	G	18: 71,721,072 (GRCm39)	S430P	probably damaging	Het
Dera	T	G	6: 137,833,732 (GRCm39)	S270A	unknown	Het
Dsg4	A	T	18: 20,586,047 (GRCm39)	T246S	probably benign	Het
Eif4g3	A	G	4: 137,893,045 (GRCm39)	E766G	probably benign	Het
Ep400	A	C	5: 110,831,805 (GRCm39)	C2146G	unknown	Het
Epas1	A	T	17: 87,134,038 (GRCm39)	T516S	probably benign	Het
Espn	A	G	4: 152,219,939 (GRCm39)	S395P	probably benign	Het
Fam124b	T	A	1: 80,190,813 (GRCm39)	Q190L	probably damaging	Het
Filip1	T	A	9: 79,726,402 (GRCm39)	D739V	probably damaging	Het
Flg2	A	G	3: 93,108,719 (GRCm39)	Y249C	probably damaging	Het
Gon4l	T	A	3: 88,765,751 (GRCm39)	S391T	probably damaging	Het
Hoxa5	G	T	6: 52,181,196 (GRCm39)	Y45*	probably null	Het
Ift172	A	G	5: 31,410,913 (GRCm39)	F1715S		Het
Klhdc9	T	A	1: 171,187,124 (GRCm39)	H262L	probably damaging	Het
Krt16	C	A	11: 100,138,453 (GRCm39)	D232Y	probably damaging	Het
Lrrd1	A	G	5: 3,901,561 (GRCm39)	E622G	probably damaging	Het
Mars1	A	T	10: 127,144,493 (GRCm39)	C182*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Msrb2	C	A	2: 19,399,130 (GRCm39)	N164K	probably damaging	Het
Mtcl2	T	G	2: 156,869,488 (GRCm39)	E1049A	probably damaging	Het
Muc2	T	A	7: 141,305,190 (GRCm39)	C604S		Het
Mup17	T	C	4: 61,511,903 (GRCm39)	I124V	probably benign	Het
Myo18b	T	C	5: 113,022,544 (GRCm39)	M283V	unknown	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nepro	T	C	16: 44,551,832 (GRCm39)	L230P	probably damaging	Het
Nes	A	G	3: 87,883,513 (GRCm39)	N591D	probably benign	Het
Nfrkb	T	C	9: 31,326,066 (GRCm39)	S1170P	possibly damaging	Het
Nphs1	A	T	7: 30,163,012 (GRCm39)	T430S	probably damaging	Het
Nrp1	T	C	8: 129,152,262 (GRCm39)	V157A	probably benign	Het
Nup188	T	A	2: 30,197,724 (GRCm39)	D259E	probably benign	Het
Or52n5	T	C	7: 104,588,207 (GRCm39)	M158T	probably benign	Het
Or5b109	A	T	19: 13,211,953 (GRCm39)	N113I		Het
Or8b1c	A	G	9: 38,384,913 (GRCm39)	Y290C	probably damaging	Het
Or9s18	G	T	13: 65,300,885 (GRCm39)	M282I	probably benign	Het
Pcdha8	T	A	18: 37,126,217 (GRCm39)	L233Q	probably damaging	Het
Pcdhga12	T	A	18: 37,901,389 (GRCm39)	F740L	probably damaging	Het
Pglyrp4	G	A	3: 90,638,151 (GRCm39)	G155D	probably damaging	Het
Piezo2	G	A	18: 63,519,347 (GRCm39)		probably benign	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Ppil1	A	T	17: 29,470,481 (GRCm39)	*167K	probably null	Het
Prdm10	G	T	9: 31,260,486 (GRCm39)	D647Y	probably damaging	Het
Prkn	A	G	17: 12,222,963 (GRCm39)	Y371C	probably damaging	Het
Prrc2b	T	A	2: 32,098,794 (GRCm39)	I702N	probably damaging	Het
Rnf26rt	A	T	6: 76,473,923 (GRCm39)	L231*	probably null	Het
Rtp4	T	A	16: 23,339,226 (GRCm39)		probably null	Het
Sema6c	A	G	3: 95,076,545 (GRCm39)	H277R	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc41a2	A	G	10: 83,119,631 (GRCm39)	L377P	probably damaging	Het
Svil	T	C	18: 5,058,126 (GRCm39)	Y630H	possibly damaging	Het
Tbata	A	G	10: 61,011,626 (GRCm39)	H54R	probably benign	Het
Tnfaip2	C	A	12: 111,412,069 (GRCm39)	Q157K	possibly damaging	Het
Trappc14	T	C	5: 138,259,862 (GRCm39)	D398G	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Vmn2r74	T	A	7: 85,610,619 (GRCm39)	R24S	probably benign	Het
Vmn2r90	G	A	17: 17,953,638 (GRCm39)	V601M	possibly damaging	Het
Vmn2r-ps117	A	G	17: 19,043,940 (GRCm39)	T339A	probably benign	Het
Xirp2	C	T	2: 67,341,106 (GRCm39)	H1116Y	possibly damaging	Het
Xrcc1	A	G	7: 24,265,690 (GRCm39)	D156G	probably benign	Het

Other mutations in Dnaaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01113:Dnaaf1	APN	8	120,309,317 (GRCm39)	missense	probably damaging	1.00
IGL02664:Dnaaf1	APN	8	120,309,260 (GRCm39)	missense	probably damaging	1.00
IGL02755:Dnaaf1	APN	8	120,317,410 (GRCm39)	missense	probably damaging	0.99
IGL03391:Dnaaf1	APN	8	120,309,355 (GRCm39)	missense	probably damaging	1.00
R7097_Dnaaf1_566	UTSW	8	120,323,538 (GRCm39)	missense	possibly damaging	0.94
R0329:Dnaaf1	UTSW	8	120,322,756 (GRCm39)	unclassified	probably benign
R0467:Dnaaf1	UTSW	8	120,317,471 (GRCm39)	missense	probably benign
R0483:Dnaaf1	UTSW	8	120,317,405 (GRCm39)	missense	possibly damaging	0.88
R1464:Dnaaf1	UTSW	8	120,306,049 (GRCm39)	missense	probably damaging	0.99
R1464:Dnaaf1	UTSW	8	120,306,049 (GRCm39)	missense	probably damaging	0.99
R1532:Dnaaf1	UTSW	8	120,304,162 (GRCm39)	missense	probably benign
R1847:Dnaaf1	UTSW	8	120,309,616 (GRCm39)	missense	probably benign	0.41
R2060:Dnaaf1	UTSW	8	120,317,341 (GRCm39)	missense	probably benign	0.27
R2108:Dnaaf1	UTSW	8	120,309,471 (GRCm39)	critical splice donor site	probably null
R2356:Dnaaf1	UTSW	8	120,315,026 (GRCm39)	missense	probably damaging	1.00
R4801:Dnaaf1	UTSW	8	120,304,100 (GRCm39)	missense	probably benign	0.10
R4802:Dnaaf1	UTSW	8	120,304,100 (GRCm39)	missense	probably benign	0.10
R5232:Dnaaf1	UTSW	8	120,317,329 (GRCm39)	missense	probably benign	0.42
R6846:Dnaaf1	UTSW	8	120,309,401 (GRCm39)	missense	probably damaging	1.00
R7080:Dnaaf1	UTSW	8	120,309,335 (GRCm39)	missense	probably damaging	1.00
R7097:Dnaaf1	UTSW	8	120,323,538 (GRCm39)	missense	possibly damaging	0.94
R7360:Dnaaf1	UTSW	8	120,304,090 (GRCm39)	missense	probably benign	0.37
R7940:Dnaaf1	UTSW	8	120,309,454 (GRCm39)	missense	possibly damaging	0.57
R8773:Dnaaf1	UTSW	8	120,302,194 (GRCm39)	missense	probably benign
R9090:Dnaaf1	UTSW	8	120,324,392 (GRCm39)	missense	probably benign	0.30
R9170:Dnaaf1	UTSW	8	120,302,195 (GRCm39)	missense	probably benign	0.00
R9271:Dnaaf1	UTSW	8	120,324,392 (GRCm39)	missense	probably benign	0.30
R9562:Dnaaf1	UTSW	8	120,309,392 (GRCm39)	missense	probably damaging	0.99
R9622:Dnaaf1	UTSW	8	120,315,001 (GRCm39)	missense	possibly damaging	0.89
R9667:Dnaaf1	UTSW	8	120,306,043 (GRCm39)	missense	possibly damaging	0.76
Z1176:Dnaaf1	UTSW	8	120,302,180 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- ATCAGAATTTGCAGAGAGCCAAC -3'
(R):5'- GGCACAAGTGAGCATGTGTG -3'

Sequencing Primer
(F):5'- AGAACCTGGAGGAGTACAC -3'
(R):5'- GTGTGCCACACTCTGTGC -3'

Posted On

2022-09-12