Mutagenetix > Incidental Mutation

Incidental Mutation 'R0329:Dnaaf2'

65117

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf2

Ensembl Gene

ENSMUSG00000020973

Gene Name

dynein, axonemal assembly factor 2

Synonyms

2810020C19Rik, kintoun, Ktu, 1110034A24Rik

MMRRC Submission

038538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0329 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69189087-69198429 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 69197744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 181 (R181L)

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: R181L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973
AA Change: R181L

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

Meta Mutation Damage Score

0.4506

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.0%

Validation Efficiency

99% (107/108)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,883,631	I400F	probably benign	Het
4833423E24Rik	T	A	2: 85,518,551	R72S	probably benign	Het
4931409K22Rik	T	C	5: 24,545,785		probably null	Het
Abca13	A	T	11: 9,399,430	H3668L	probably damaging	Het
Acvr1c	T	C	2: 58,284,838	T313A	probably damaging	Het
Adam28	T	C	14: 68,617,739	K651R	probably damaging	Het
Adamtsl3	A	T	7: 82,521,990	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,667,313	C380S	probably damaging	Het
AI597479	T	G	1: 43,111,117	L129R	probably benign	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Anxa7	A	C	14: 20,469,498		probably null	Het
Arhgap22	A	G	14: 33,369,417	R650G	possibly damaging	Het
Atp8a1	T	A	5: 67,812,073		probably benign	Het
Bcr	C	T	10: 75,181,634	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,429,777	S185N	probably benign	Het
Calcoco1	A	T	15: 102,715,763	M246K	probably benign	Het
Casp12	T	A	9: 5,345,534		probably benign	Het
Ccno	T	A	13: 112,989,996	L333Q	probably damaging	Het
Cdhr2	T	A	13: 54,734,801		probably benign	Het
Cftr	T	A	6: 18,226,097	M318K	probably null	Het
Ckmt2	T	A	13: 91,863,203	D96V	possibly damaging	Het
Cnnm1	C	T	19: 43,441,910	P489L	probably damaging	Het
Cntnap1	A	T	11: 101,188,309	D1175V	probably damaging	Het
Cpne5	A	T	17: 29,211,660	L92H	probably damaging	Het
Crcp	C	A	5: 130,042,242	Q61K	possibly damaging	Het
Dcaf8	T	A	1: 172,187,411	D414E	probably benign	Het
Ddx28	T	C	8: 106,010,245	T394A	probably benign	Het
Ddx55	T	C	5: 124,559,147	F191L	probably benign	Het
Dnaaf1	T	C	8: 119,596,017		probably benign	Het
Elac2	A	G	11: 64,979,310	Y67C	probably damaging	Het
Elf5	A	G	2: 103,430,420		probably benign	Het
Emcn	T	A	3: 137,416,814		probably benign	Het
Erbb4	T	C	1: 68,298,280		probably benign	Het
Erbin	C	A	13: 103,868,865	C114F	probably damaging	Het
Etfdh	T	C	3: 79,609,844	I353V	probably benign	Het
Fam172a	T	A	13: 77,761,951		probably benign	Het
Fbxl12	C	T	9: 20,638,480	G316D	probably damaging	Het
Gbf1	G	A	19: 46,272,270		probably null	Het
Gbp2b	T	G	3: 142,608,176	S406A	probably benign	Het
Gli3	T	G	13: 15,723,558	L741R	probably damaging	Het
Gmip	G	T	8: 69,810,818	S70I	probably benign	Het
Gnptab	T	C	10: 88,440,309	S1153P	probably damaging	Het
Gp1ba	A	G	11: 70,640,409		probably benign	Het
Gramd1a	T	C	7: 31,138,254	D360G	possibly damaging	Het
Hectd4	T	C	5: 121,259,864	I285T	probably benign	Het
Hrh4	A	G	18: 13,007,245		probably benign	Het
Hsp90b1	T	C	10: 86,694,155	E226G	probably damaging	Het
Hspa13	A	T	16: 75,765,130	D60E	probably damaging	Het
Htt	T	A	5: 34,817,134		probably benign	Het
Ispd	C	T	12: 36,381,838	A22V	possibly damaging	Het
Kif14	G	C	1: 136,496,026		probably benign	Het
Kit	T	G	5: 75,652,829	V888G	probably damaging	Het
Lpin3	T	C	2: 160,905,305	V827A	probably benign	Het
Lrriq4	T	C	3: 30,655,724	S406P	probably benign	Het
Man2c1	T	C	9: 57,141,183	V777A	probably benign	Het
Mcm8	A	G	2: 132,819,994	K83E	possibly damaging	Het
Mep1a	A	G	17: 43,497,898		probably null	Het
Mtor	T	A	4: 148,484,380	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,509,029	A710T	possibly damaging	Het
Myo9a	C	G	9: 59,923,677	T2368S	probably damaging	Het
Nbeal1	A	G	1: 60,268,063	Y1684C	probably damaging	Het
Npm3	A	G	19: 45,749,526	F11L	probably benign	Het
Nutf2	T	A	8: 105,876,363	S37T	probably damaging	Het
Obscn	T	A	11: 59,040,441	I5790F	probably damaging	Het
Obscn	A	T	11: 59,052,506	D4833E	probably damaging	Het
Olfr1015	T	A	2: 85,785,803	C97*	probably null	Het
Olfr123	A	T	17: 37,795,989	M182L	probably benign	Het
Olfr39	T	A	9: 20,285,857	S61T	possibly damaging	Het
Olfr955	T	C	9: 39,470,556	T57A	possibly damaging	Het
Pcdhb1	A	G	18: 37,267,024	D676G	possibly damaging	Het
Pcif1	G	T	2: 164,889,444	R466L	probably damaging	Het
Pdk1	T	C	2: 71,895,674		probably benign	Het
Phxr2	T	C	10: 99,126,117		probably benign	Het
Pidd1	A	T	7: 141,439,561		probably benign	Het
Plec	A	G	15: 76,191,418		probably null	Het
Polr1a	T	A	6: 71,966,416	C1212S	possibly damaging	Het
Pot1a	A	G	6: 25,778,831		probably benign	Het
Prdm5	T	C	6: 65,862,903		probably benign	Het
Primpol	A	T	8: 46,610,461	N53K	probably damaging	Het
Pyroxd1	A	G	6: 142,361,976	I491V	probably benign	Het
Serpinb3b	G	T	1: 107,159,703	N25K	probably damaging	Het
Slc9b1	C	T	3: 135,373,235	R218*	probably null	Het
Ssbp2	T	A	13: 91,680,579		probably null	Het
Stat4	A	G	1: 52,090,870		probably benign	Het
Steap4	T	C	5: 7,975,829	V130A	possibly damaging	Het
Stoml2	A	G	4: 43,030,238		probably null	Het
Syne2	G	T	12: 75,966,953	G2974C	probably benign	Het
Tfdp2	T	G	9: 96,306,893	F200V	probably damaging	Het
Tgm4	T	C	9: 123,048,557		probably null	Het
Tie1	C	A	4: 118,484,727	R175L	probably benign	Het
Tmem145	A	G	7: 25,308,674		probably benign	Het
Tsacc	A	G	3: 88,282,862	S94P	possibly damaging	Het
Tshz3	T	A	7: 36,770,033	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,092		probably null	Het
Ugt2b35	A	G	5: 87,003,405	K290R	probably null	Het
Unc80	T	C	1: 66,674,087	L2788P	possibly damaging	Het
Usp10	T	A	8: 119,936,557	C39*	probably null	Het
Utp20	T	A	10: 88,817,979	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,610,717	T265K	probably damaging	Het
Vmn2r7	C	A	3: 64,691,018	C797F	probably damaging	Het
Vmn2r98	A	C	17: 19,066,347	H369P	probably benign	Het
Vps39	A	T	2: 120,338,787	Y245N	possibly damaging	Het
Wdr27	A	G	17: 14,934,459		probably benign	Het
Ythdc2	A	G	18: 44,865,060		probably benign	Het
Zcwpw2	C	A	9: 118,014,055		noncoding transcript	Het
Zdhhc1	C	A	8: 105,483,543	A81S	probably benign	Het
Zfp729a	G	T	13: 67,620,354	H585Q	probably 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
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
R6338:Dnaaf2	UTSW	12	69198122	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

Posted On

2013-08-08