Mutagenetix > Incidental Mutations

Incidental Mutation 'R1883:Dnah3'

209267

Institutional Source

Beutler Lab

Gene Symbol

Dnah3

Ensembl Gene

ENSMUSG00000052273

Gene Name

dynein, axonemal, heavy chain 3

Synonyms

MMRRC Submission

039904-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R1883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119922671-120095280 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120077919 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 453 (D453G)

Ref Sequence

ENSEMBL: ENSMUSP00000042857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046993] [ENSMUST00000209154] [ENSMUST00000213149]

Predicted Effect

probably benign
Transcript: ENSMUST00000046993
AA Change: D453G

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000042857
Gene: ENSMUSG00000052273
AA Change: D453G

Domain	Start	End	E-Value	Type
low complexity region	121	133	N/A	INTRINSIC
low complexity region	805	820	N/A	INTRINSIC
Pfam:DHC_N2	826	1235	3.3e-144	PFAM
AAA	1388	1527	1.59e-1	SMART
low complexity region	1594	1606	N/A	INTRINSIC
Blast:AAA	1669	1897	9e-84	BLAST
AAA	2033	2180	1.33e-3	SMART
Pfam:AAA_8	2362	2632	1.5e-63	PFAM
Pfam:MT	2644	2994	7.4e-52	PFAM
Pfam:AAA_9	3015	3240	3.5e-92	PFAM
low complexity region	3338	3349	N/A	INTRINSIC
Pfam:Dynein_heavy	3376	4079	4.4e-285	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209154
AA Change: D454G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000213149

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	T	C	6: 50,574,453	T339A	probably benign	Het
Ano9	T	C	7: 141,102,331	E677G	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Brs3	T	C	X: 57,047,089	I311T	probably benign	Het
Capn9	A	G	8: 124,611,558	K552R	probably benign	Het
Catsperg1	C	T	7: 29,182,236		probably null	Het
Cdc16	A	G	8: 13,775,738	N449D	probably damaging	Het
Cdyl2	A	T	8: 116,595,163	N208K	probably damaging	Het
Cnot4	C	T	6: 35,078,157	V66I	probably damaging	Het
Cntn4	A	G	6: 106,679,392	T885A	probably benign	Het
Col20a1	C	T	2: 180,992,910	T131I	possibly damaging	Het
Crybg2	C	A	4: 134,074,283	S918*	probably null	Het
Dact2	A	T	17: 14,197,823	S207T	possibly damaging	Het
Dbnl	G	A	11: 5,799,247	G356E	probably benign	Het
Ddx18	C	A	1: 121,567,916		probably benign	Het
Dis3	A	T	14: 99,091,469	H282Q	probably benign	Het
Dst	T	C	1: 34,189,308	V1994A	possibly damaging	Het
Dusp8	C	T	7: 142,084,348		probably null	Het
Eipr1	A	T	12: 28,766,851	H69L	possibly damaging	Het
Eml1	A	G	12: 108,463,652	R65G	probably damaging	Het
Epha7	C	T	4: 28,950,362	H722Y	possibly damaging	Het
Epyc	A	T	10: 97,675,833	K229N	possibly damaging	Het
Extl1	A	G	4: 134,364,606	I312T	probably benign	Het
F13a1	G	C	13: 36,989,007	A133G	probably benign	Het
Fam185a	G	T	5: 21,425,244	C26F	possibly damaging	Het
Fam186b	T	C	15: 99,278,798	N737S	probably damaging	Het
Fam78b	A	G	1: 167,001,602	I13V	probably benign	Het
Fat1	A	T	8: 45,051,147	Q4559L	probably benign	Het
Fnip1	T	C	11: 54,515,547	S1157P	probably damaging	Het
Foxj3	A	C	4: 119,610,029	M190L	probably benign	Het
Gm5096	T	C	18: 87,756,545	L64P	probably damaging	Het
Heatr3	T	C	8: 88,144,593	Y192H	possibly damaging	Het
Hexdc	T	A	11: 121,207,698	S3T	probably benign	Het
Klf3	C	T	5: 64,822,881	P5S	probably damaging	Het
Klf9	C	T	19: 23,164,737	S187L	probably damaging	Het
Krt9	T	C	11: 100,188,697	H623R	unknown	Het
Krtap2-4	G	C	11: 99,614,679		probably benign	Het
Lmtk3	T	C	7: 45,786,849	Y84H	probably damaging	Het
Mroh3	G	T	1: 136,206,993	A166D	probably damaging	Het
Musk	C	A	4: 58,373,189	P697T	probably benign	Het
Nek9	A	G	12: 85,332,556	L192P	probably damaging	Het
Nipbl	A	C	15: 8,327,132	F1590C	probably damaging	Het
Nrk	G	T	X: 139,007,173	V1455F	probably damaging	Het
Nsun3	T	C	16: 62,735,293	D290G	probably damaging	Het
Obscn	T	C	11: 59,078,203	T222A	probably damaging	Het
Olfr446	T	C	6: 42,927,830	S200P	probably damaging	Het
Olfr583	T	C	7: 103,051,982	I228T	probably benign	Het
Olfr6	T	C	7: 106,956,774	H54R	probably benign	Het
Osbpl11	T	G	16: 33,214,353	H237Q	probably benign	Het
Pde10a	A	T	17: 8,978,944	T671S	possibly damaging	Het
Pkd2	A	T	5: 104,483,228	N506I	probably damaging	Het
Ppp3cb	A	G	14: 20,523,845	V274A	possibly damaging	Het
Prex1	T	C	2: 166,583,272	D938G	probably benign	Het
Ptch1	G	A	13: 63,512,027	Q1134*	probably null	Het
Rasgrf2	A	G	13: 91,969,030	V820A	probably benign	Het
Rimbp2	C	T	5: 128,803,934	V137M	possibly damaging	Het
Rpa1	A	G	11: 75,318,483	V137A	probably benign	Het
Rps6ka1	A	C	4: 133,864,043	I299S	probably damaging	Het
Scn3b	A	C	9: 40,279,373		probably null	Het
Sdha	A	T	13: 74,333,136	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,765,778	D274V	possibly damaging	Het
Sik3	C	G	9: 46,221,089	H1276Q	probably benign	Het
Snx14	T	A	9: 88,402,261	E451D	probably benign	Het
Swt1	T	A	1: 151,423,533	K8*	probably null	Het
Tas1r3	G	T	4: 155,862,153	P332T	probably damaging	Het
Tas2r126	A	T	6: 42,435,027	T165S	probably benign	Het
Tecpr1	A	G	5: 144,206,529	V676A	probably benign	Het
Tg	A	G	15: 66,671,309	E24G	probably damaging	Het
Tlr7	C	T	X: 167,306,472	G673S	probably benign	Het
Tnxb	T	A	17: 34,689,565	D1520E	probably benign	Het
Trabd	A	G	15: 89,081,981	E47G	probably damaging	Het
Trim29	T	A	9: 43,311,405	I177N	probably damaging	Het
Ubxn2a	A	T	12: 4,894,563	L53*	probably null	Het
Ulk2	A	G	11: 61,830,612	L208P	probably damaging	Het
Unc80	G	A	1: 66,525,770	C872Y	possibly damaging	Het
Vac14	A	G	8: 110,711,687	H644R	probably damaging	Het
Vmn1r20	C	A	6: 57,432,321	H211N	probably benign	Het
Vmn1r31	C	T	6: 58,472,044	V279I	probably damaging	Het
Vmn2r18	G	T	5: 151,575,725	Q425K	probably benign	Het
Vmn2r60	T	C	7: 42,136,670	V299A	probably damaging	Het
Vps54	A	T	11: 21,312,967	T685S	possibly damaging	Het
Vwa5b1	A	G	4: 138,575,389	W932R	probably damaging	Het
Wdr53	A	T	16: 32,256,498	I174F	possibly damaging	Het
Zfp157	A	G	5: 138,444,840	D31G	probably damaging	Het
Zfp60	T	C	7: 27,750,010	L701P	probably benign	Het
Zfp609	A	T	9: 65,794,758	M204K	probably benign	Het
Zfp831	A	G	2: 174,704,077	H1325R	possibly damaging	Het
Zfp995	A	T	17: 21,880,641	I204N	probably benign	Het
Zp2	C	T	7: 120,133,401	D641N	probably benign	Het

Other mutations in Dnah3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00650:Dnah3	APN	7	119938905	missense	possibly damaging	0.88
IGL01095:Dnah3	APN	7	119951597	missense	probably benign	0.02
IGL01329:Dnah3	APN	7	120022941	missense	probably damaging	1.00
IGL01380:Dnah3	APN	7	119926564	missense	probably damaging	1.00
IGL01410:Dnah3	APN	7	119967720	missense	possibly damaging	0.91
IGL01487:Dnah3	APN	7	119965530	nonsense	probably null
IGL01843:Dnah3	APN	7	119943575	missense	probably benign	0.12
IGL01929:Dnah3	APN	7	119951651	nonsense	probably null
IGL01994:Dnah3	APN	7	119951214	missense	possibly damaging	0.58
IGL02115:Dnah3	APN	7	120029054	missense	probably damaging	1.00
IGL02273:Dnah3	APN	7	119951271	missense	probably damaging	1.00
IGL02299:Dnah3	APN	7	119967579	missense	probably benign	0.39
IGL02421:Dnah3	APN	7	119950992	missense	possibly damaging	0.87
IGL02514:Dnah3	APN	7	119966247	missense	probably damaging	1.00
IGL02596:Dnah3	APN	7	119938914	missense	probably benign	0.19
IGL02716:Dnah3	APN	7	119937023	missense	probably damaging	0.97
IGL02738:Dnah3	APN	7	119965497	missense	probably benign
IGL03404:Dnah3	APN	7	119938977	missense	probably damaging	1.00
R0011:Dnah3	UTSW	7	120019701	missense	probably damaging	1.00
R0195:Dnah3	UTSW	7	120077775	critical splice donor site	probably null
R0241:Dnah3	UTSW	7	119922730	missense	probably damaging	1.00
R0241:Dnah3	UTSW	7	119922730	missense	probably damaging	1.00
R0312:Dnah3	UTSW	7	120045659	missense	probably damaging	1.00
R0316:Dnah3	UTSW	7	119965659	missense	possibly damaging	0.94
R0370:Dnah3	UTSW	7	120086720	missense	possibly damaging	0.91
R0426:Dnah3	UTSW	7	119943572	missense	probably benign	0.11
R0525:Dnah3	UTSW	7	119928754	missense	probably damaging	1.00
R0625:Dnah3	UTSW	7	120071887	missense	possibly damaging	0.68
R0627:Dnah3	UTSW	7	120020915	missense	probably damaging	1.00
R0632:Dnah3	UTSW	7	119967905	missense	probably benign	0.11
R0928:Dnah3	UTSW	7	120030051	missense	probably damaging	1.00
R0964:Dnah3	UTSW	7	119952739	splice site	probably benign
R0972:Dnah3	UTSW	7	120035340	splice site	probably null
R1066:Dnah3	UTSW	7	120061009	missense	probably damaging	1.00
R1082:Dnah3	UTSW	7	120078445	missense	probably damaging	1.00
R1127:Dnah3	UTSW	7	119923030	missense	probably damaging	1.00
R1132:Dnah3	UTSW	7	119939004	missense	possibly damaging	0.50
R1222:Dnah3	UTSW	7	120090676	missense	probably benign	0.28
R1420:Dnah3	UTSW	7	119951979	missense	probably damaging	0.99
R1456:Dnah3	UTSW	7	120047630	missense	probably damaging	1.00
R1472:Dnah3	UTSW	7	120070958	missense	probably benign	0.12
R1617:Dnah3	UTSW	7	120089946	missense	probably benign	0.01
R1624:Dnah3	UTSW	7	120019695	missense	probably damaging	0.99
R1654:Dnah3	UTSW	7	119926449	missense	probably damaging	1.00
R1673:Dnah3	UTSW	7	119971179	nonsense	probably null
R1677:Dnah3	UTSW	7	119928740	missense	probably damaging	1.00
R1687:Dnah3	UTSW	7	120045786	splice site	probably null
R1711:Dnah3	UTSW	7	120078571	missense	probably damaging	1.00
R1738:Dnah3	UTSW	7	120035359	missense	probably damaging	1.00
R1778:Dnah3	UTSW	7	120078402	missense	probably damaging	1.00
R1866:Dnah3	UTSW	7	119928856	splice site	probably null
R1894:Dnah3	UTSW	7	120086334	missense	probably benign	0.05
R1929:Dnah3	UTSW	7	119975129	missense	probably benign	0.10
R1988:Dnah3	UTSW	7	119967570	missense	possibly damaging	0.92
R1988:Dnah3	UTSW	7	119967959	missense	probably damaging	0.99
R2010:Dnah3	UTSW	7	120095177	start codon destroyed	probably benign	0.00
R2022:Dnah3	UTSW	7	119951242	missense	probably damaging	1.00
R2026:Dnah3	UTSW	7	120039406	missense	probably damaging	1.00
R2063:Dnah3	UTSW	7	119951909	missense	probably damaging	0.96
R2131:Dnah3	UTSW	7	119967759	missense	possibly damaging	0.93
R2152:Dnah3	UTSW	7	119952013	missense	probably benign	0.02
R2199:Dnah3	UTSW	7	119951569	missense	possibly damaging	0.89
R2271:Dnah3	UTSW	7	119975129	missense	probably benign	0.10
R2350:Dnah3	UTSW	7	120045788	splice site	probably null
R2567:Dnah3	UTSW	7	119952697	missense	possibly damaging	0.83
R2848:Dnah3	UTSW	7	119967938	missense	probably benign	0.01
R2902:Dnah3	UTSW	7	119951499	missense	possibly damaging	0.61
R2926:Dnah3	UTSW	7	119951115	missense	probably damaging	1.00
R2944:Dnah3	UTSW	7	119951110	missense	probably damaging	1.00
R3022:Dnah3	UTSW	7	120078481	missense	possibly damaging	0.93
R3401:Dnah3	UTSW	7	119967656	missense	probably benign	0.00
R3402:Dnah3	UTSW	7	119967656	missense	probably benign	0.00
R3403:Dnah3	UTSW	7	119967656	missense	probably benign	0.00
R3919:Dnah3	UTSW	7	119951080	missense	probably damaging	1.00
R3972:Dnah3	UTSW	7	120086720	missense	probably damaging	0.99
R4162:Dnah3	UTSW	7	119922838	missense	probably damaging	1.00
R4184:Dnah3	UTSW	7	120083293	missense	probably damaging	1.00
R4198:Dnah3	UTSW	7	119922838	missense	probably damaging	1.00
R4199:Dnah3	UTSW	7	119922838	missense	probably damaging	1.00
R4200:Dnah3	UTSW	7	119922838	missense	probably damaging	1.00
R4239:Dnah3	UTSW	7	120029025	nonsense	probably null
R4478:Dnah3	UTSW	7	120071863	missense	probably benign	0.00
R4579:Dnah3	UTSW	7	120009331	missense	probably damaging	1.00
R4600:Dnah3	UTSW	7	120089946	missense	probably benign
R4649:Dnah3	UTSW	7	120047698	missense	probably damaging	1.00
R4658:Dnah3	UTSW	7	119950651	missense	probably damaging	1.00
R4728:Dnah3	UTSW	7	120059366	missense	probably damaging	0.99
R4739:Dnah3	UTSW	7	120077946	missense	possibly damaging	0.54
R4758:Dnah3	UTSW	7	120079406	missense	probably benign	0.00
R4785:Dnah3	UTSW	7	119967824	missense	probably benign	0.29
R4789:Dnah3	UTSW	7	120011072	missense	probably damaging	1.00
R4930:Dnah3	UTSW	7	119951681	nonsense	probably null
R4935:Dnah3	UTSW	7	120016477	nonsense	probably null
R4946:Dnah3	UTSW	7	119931560	missense	probably damaging	1.00
R4981:Dnah3	UTSW	7	119956201	missense	probably benign	0.03
R4984:Dnah3	UTSW	7	119928779	missense	probably benign	0.04
R5025:Dnah3	UTSW	7	120071905	missense	probably benign	0.02
R5046:Dnah3	UTSW	7	119951580	missense	probably damaging	1.00
R5056:Dnah3	UTSW	7	120020946	missense	probably damaging	1.00
R5068:Dnah3	UTSW	7	120032790	missense	probably benign
R5069:Dnah3	UTSW	7	120032790	missense	probably benign
R5154:Dnah3	UTSW	7	119952419	missense	probably damaging	1.00
R5208:Dnah3	UTSW	7	120032638	missense	probably damaging	1.00
R5323:Dnah3	UTSW	7	120021011	missense	probably damaging	1.00
R5330:Dnah3	UTSW	7	119943648	missense	probably benign	0.00
R5385:Dnah3	UTSW	7	119924903	missense	probably damaging	1.00
R5391:Dnah3	UTSW	7	120090076	missense	probably benign	0.02
R5564:Dnah3	UTSW	7	119971466	critical splice donor site	probably null
R5594:Dnah3	UTSW	7	119971621	missense	possibly damaging	0.89
R5610:Dnah3	UTSW	7	119939065	intron	probably null
R5673:Dnah3	UTSW	7	119951589	missense	possibly damaging	0.91
R5678:Dnah3	UTSW	7	120077851	missense	probably benign	0.00
R5737:Dnah3	UTSW	7	120059198	missense	probably benign	0.03
R5766:Dnah3	UTSW	7	119978222	missense	probably damaging	1.00
R5769:Dnah3	UTSW	7	120089952	nonsense	probably null
R5789:Dnah3	UTSW	7	119943599	missense	possibly damaging	0.70
R5791:Dnah3	UTSW	7	119931473	missense	probably benign	0.00
R5841:Dnah3	UTSW	7	119951021	utr 3 prime	probably benign
R5843:Dnah3	UTSW	7	119951021	utr 3 prime	probably benign
R5844:Dnah3	UTSW	7	119951021	utr 3 prime	probably benign
R5846:Dnah3	UTSW	7	119951021	utr 3 prime	probably benign
R5851:Dnah3	UTSW	7	120039362	missense	possibly damaging	0.51
R5853:Dnah3	UTSW	7	119938833	missense	probably damaging	1.00
R5857:Dnah3	UTSW	7	119951021	utr 3 prime	probably benign
R5865:Dnah3	UTSW	7	119975108	missense	probably benign	0.00
R5885:Dnah3	UTSW	7	120069704	missense	probably benign	0.10
R5898:Dnah3	UTSW	7	120078501	missense	probably benign	0.37
R5917:Dnah3	UTSW	7	120016526	missense	probably damaging	1.00
R5964:Dnah3	UTSW	7	119922880	missense	probably benign	0.00
R5990:Dnah3	UTSW	7	120073541	missense	probably benign
R6004:Dnah3	UTSW	7	120086297	missense	probably benign	0.10
R6033:Dnah3	UTSW	7	120071647	missense	probably benign	0.00
R6033:Dnah3	UTSW	7	120071647	missense	probably benign	0.00
R6045:Dnah3	UTSW	7	119967522	missense	probably damaging	0.99
R6056:Dnah3	UTSW	7	120030031	missense	probably damaging	1.00
R6133:Dnah3	UTSW	7	120086246	missense	probably benign	0.10
R6229:Dnah3	UTSW	7	119965488	missense	probably benign	0.11
R6237:Dnah3	UTSW	7	120009384	missense	probably damaging	1.00
R6333:Dnah3	UTSW	7	120054633	missense	probably damaging	1.00
R6408:Dnah3	UTSW	7	119922968	unclassified	probably null
R6447:Dnah3	UTSW	7	119923054	missense	probably benign	0.12
R6606:Dnah3	UTSW	7	120060956	missense	probably benign	0.02
R6666:Dnah3	UTSW	7	120070949	missense	probably benign	0.16
R6733:Dnah3	UTSW	7	119922974	missense	probably benign	0.22
R6815:Dnah3	UTSW	7	119971727	missense	probably benign
R6882:Dnah3	UTSW	7	119971184	missense	possibly damaging	0.95
R6934:Dnah3	UTSW	7	120054601	critical splice donor site	probably null
R6966:Dnah3	UTSW	7	120032754	missense	probably damaging	1.00
R7025:Dnah3	UTSW	7	120030010	missense	possibly damaging	0.90
R7207:Dnah3	UTSW	7	119971089	missense	probably damaging	1.00
R7214:Dnah3	UTSW	7	119922742	missense	probably damaging	1.00
R7222:Dnah3	UTSW	7	120071523	missense	probably benign	0.00
R7235:Dnah3	UTSW	7	120032670	missense	probably damaging	1.00
R7241:Dnah3	UTSW	7	119943633	missense	probably benign	0.03
R7313:Dnah3	UTSW	7	119981344	missense	probably benign	0.39
R7342:Dnah3	UTSW	7	120029985	missense	probably damaging	1.00
R7368:Dnah3	UTSW	7	120029016	missense	probably benign
R7375:Dnah3	UTSW	7	119951677	missense	probably damaging	1.00
R7395:Dnah3	UTSW	7	119966251	missense
R7395:Dnah3	UTSW	7	120060960	missense	probably benign	0.00
R7431:Dnah3	UTSW	7	120051744	missense	probably damaging	1.00
R7499:Dnah3	UTSW	7	120060912	missense	probably damaging	0.99
R7515:Dnah3	UTSW	7	120073592	missense	probably benign	0.21
R7564:Dnah3	UTSW	7	119971594	missense	probably benign
R7618:Dnah3	UTSW	7	119978378	missense	probably damaging	0.97
R7697:Dnah3	UTSW	7	119967434	missense
R7728:Dnah3	UTSW	7	119938828	missense	probably damaging	1.00
R7757:Dnah3	UTSW	7	120071570	missense	probably benign
R7774:Dnah3	UTSW	7	119951752	nonsense	probably null
R7804:Dnah3	UTSW	7	119952618	missense	probably damaging	1.00
R7804:Dnah3	UTSW	7	120011012	missense	probably damaging	1.00
Z1088:Dnah3	UTSW	7	120010873	missense	probably null	1.00
Z1088:Dnah3	UTSW	7	120086297	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATGGACCATGATGTTGCAAC -3'
(R):5'- CCTTGGGAACTAGAGAAGGC -3'

Sequencing Primer
(F):5'- ATGATGTTGCAACCAGCCACTTG -3'
(R):5'- GGCATAAGCTCCCAACAGGG -3'

Posted On

2014-06-30