Mutagenetix > Incidental Mutations

Incidental Mutation 'R1999:Dync1h1'

224769

Institutional Source

Beutler Lab

Gene Symbol

Dync1h1

Ensembl Gene

ENSMUSG00000018707

Gene Name

dynein cytoplasmic 1 heavy chain 1

Synonyms

9930018I23Rik, Dnchc1, dynein heavy chain, retrograde transport, Swl, MAP1C, Loa, Dnec1

MMRRC Submission

040009-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1999 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110601452-110666945 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 110666423 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000018851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018851] [ENSMUST00000070659] [ENSMUST00000222915]

PDB Structure

Microtubule binding domain from mouse cytoplasmic dynein as a fusion with seryl-tRNA synthetase [X-RAY DIFFRACTION]
High affinity dynein microtubule binding domain - tubulin complex [ELECTRON MICROSCOPY]
Low affinity dynein microtubule binding domain - tubulin complex [ELECTRON MICROSCOPY]
Structure of the entire stalk region of the dynein motor domain [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000018851

SMART Domains

Protein: ENSMUSP00000018851
Gene: ENSMUSG00000018707

Domain	Start	End	E-Value	Type
low complexity region	46	61	N/A	INTRINSIC
low complexity region	83	95	N/A	INTRINSIC
Pfam:DHC_N1	237	830	1.9e-145	PFAM
coiled coil region	1171	1198	N/A	INTRINSIC
Pfam:DHC_N2	1317	1721	3.3e-116	PFAM
AAA	1899	2043	5.39e-2	SMART
low complexity region	2102	2116	N/A	INTRINSIC
AAA	2214	2365	2.13e0	SMART
low complexity region	2394	2405	N/A	INTRINSIC
AAA	2585	2735	8.6e-7	SMART
Blast:AAA	2777	2811	2e-13	BLAST
AAA	2927	3093	4.79e-5	SMART
Pfam:MT	3197	3534	1.1e-44	PFAM
Pfam:AAA_9	3554	3778	8.5e-75	PFAM
Pfam:Dynein_heavy	3919	4642	4.3e-163	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070659

SMART Domains

Protein: ENSMUSP00000068238
Gene: ENSMUSG00000056508

Domain	Start	End	E-Value	Type
low complexity region	196	210	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171535

Predicted Effect

probably benign
Transcript: ENSMUST00000222915

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for either the Cra1 or Loa ENU mutation exhibit neonatal lethality with reduced anterior horn cell number, abnormal motor neuron innervation, neuronal inclusions, and abnormal axonal transport. Heterozygotes display motor neuron degeneration and muscle spasms. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,908,211	T487I	probably damaging	Het
Acot1	T	A	12: 84,009,753	W82R	probably damaging	Het
Adprm	A	G	11: 67,038,229	V312A	probably benign	Het
Ambp	C	T	4: 63,149,429	M181I	possibly damaging	Het
Anln	A	G	9: 22,333,052	*1122Q	probably null	Het
Apc2	C	T	10: 80,309,160	T635I	probably damaging	Het
Arhgap32	A	G	9: 32,116,140	E2G	possibly damaging	Het
Ccdc63	C	G	5: 122,127,565	A71P	possibly damaging	Het
Ceacam5	A	T	7: 17,747,247	K306N	possibly damaging	Het
Cep295nl	T	C	11: 118,333,089	R310G	probably damaging	Het
Ces2h	A	G	8: 105,020,345	T538A	probably benign	Het
Dab2	T	C	15: 6,416,917	V5A	probably benign	Het
Diaph3	T	A	14: 86,984,866	D405V	possibly damaging	Het
Epha7	C	T	4: 28,938,686	Q514*	probably null	Het
Etfb	C	T	7: 43,454,563	L141F	probably benign	Het
Fat1	T	C	8: 44,952,393	V727A	probably damaging	Het
Flt4	T	C	11: 49,645,997	Y1265H	probably benign	Het
Fndc3c1	C	T	X: 106,420,705	E1276K	probably benign	Het
Ghdc	T	C	11: 100,769,192	E243G	probably benign	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm9268	A	T	7: 43,047,459	I647F	probably damaging	Het
Gpld1	T	C	13: 24,962,647	V225A	probably benign	Het
Herc1	A	G	9: 66,486,078	T4080A	probably benign	Het
Hoxa3	A	C	6: 52,170,402	Y290*	probably null	Het
Htr5a	G	A	5: 27,850,889	V293M	possibly damaging	Het
Itgb7	C	T	15: 102,222,118	V378M	probably damaging	Het
Kcnq5	T	C	1: 21,402,204	S811G	probably null	Het
Kcnt1	T	A	2: 25,892,360	H156Q	probably benign	Het
Kif1a	T	C	1: 93,060,795	N507S	probably damaging	Het
Krt84	T	C	15: 101,529,584	E312G	possibly damaging	Het
Manea	A	G	4: 26,327,871	L390P	probably damaging	Het
Mboat2	A	G	12: 24,946,673	D225G	possibly damaging	Het
Medag	T	A	5: 149,427,252	F64Y	probably damaging	Het
Mtmr6	T	A	14: 60,293,407	S331R	probably damaging	Het
Myh1	A	C	11: 67,222,408	D1873A	probably benign	Het
Nek9	A	G	12: 85,329,903	W235R	probably damaging	Het
Nomo1	T	C	7: 46,056,727	S502P	possibly damaging	Het
Olfr1076	T	A	2: 86,508,745	Y95*	probably null	Het
Olfr401	A	G	11: 74,121,580	Y97C	probably benign	Het
Olfr981	A	G	9: 40,022,689	I99V	probably benign	Het
Otof	T	A	5: 30,388,772	E427D	probably benign	Het
Pclo	T	C	5: 14,677,080		probably benign	Het
Pkhd1l1	T	G	15: 44,499,982		probably null	Het
Prl2c2	G	C	13: 13,002,201	T47R	probably damaging	Het
Rad21l	T	C	2: 151,654,701		probably null	Het
Rbbp6	T	C	7: 122,990,352	V459A	probably damaging	Het
Rsbn1l	G	A	5: 20,902,370	H549Y	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Senp1	C	T	15: 98,058,315	V408I	possibly damaging	Het
Slc44a5	T	C	3: 154,258,493	F499L	possibly damaging	Het
Slitrk3	C	T	3: 73,049,964	V492I	probably benign	Het
Spef2	T	A	15: 9,668,903		probably null	Het
Ssc5d	A	T	7: 4,942,714	D915V	possibly damaging	Het
Stard9	A	G	2: 120,692,868	D668G	probably damaging	Het
Sycp2l	A	G	13: 41,118,304	D73G	probably benign	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Tmem8b	G	A	4: 43,681,300	C439Y	probably damaging	Het
Vmn1r195	C	G	13: 22,278,764	L135V	possibly damaging	Het
Vmn1r74	G	T	7: 11,847,375	V201F	probably damaging	Het
Zfp956	G	A	6: 47,963,871	R388H	probably damaging	Het

Other mutations in Dync1h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01291:Dync1h1	APN	12	110649104	missense	probably benign	0.31
IGL01299:Dync1h1	APN	12	110614107	missense	probably benign	0.04
IGL01321:Dync1h1	APN	12	110625607	splice site	probably benign
IGL01324:Dync1h1	APN	12	110626865	missense	probably damaging	0.99
IGL01327:Dync1h1	APN	12	110616692	splice site	probably benign
IGL01371:Dync1h1	APN	12	110638851	missense	probably benign	0.05
IGL01598:Dync1h1	APN	12	110658128	missense	probably damaging	0.99
IGL01782:Dync1h1	APN	12	110614940	missense	probably damaging	1.00
IGL01791:Dync1h1	APN	12	110658930	missense	probably damaging	0.99
IGL01797:Dync1h1	APN	12	110652196	critical splice donor site	probably null
IGL02040:Dync1h1	APN	12	110637124	missense	probably benign	0.21
IGL02096:Dync1h1	APN	12	110632820	missense	possibly damaging	0.68
IGL02164:Dync1h1	APN	12	110662559	missense	probably damaging	1.00
IGL02216:Dync1h1	APN	12	110663002	missense	probably damaging	0.98
IGL02298:Dync1h1	APN	12	110640888	missense	probably damaging	1.00
IGL02422:Dync1h1	APN	12	110640210	missense	possibly damaging	0.68
IGL02610:Dync1h1	APN	12	110659232	nonsense	probably null
IGL02643:Dync1h1	APN	12	110659272	unclassified	probably benign
IGL03076:Dync1h1	APN	12	110657893	missense	probably damaging	1.00
IGL03292:Dync1h1	APN	12	110666555	unclassified	probably null
IGL03293:Dync1h1	APN	12	110628734	missense	probably benign	0.12
IGL03299:Dync1h1	APN	12	110619210	missense	possibly damaging	0.49
Gesund	UTSW	12	110616404	missense	probably benign	0.35
gymnast	UTSW	12	110618368	missense	probably damaging	1.00
Lightfoot	UTSW	12	110617920	missense	probably damaging	1.00
Lissom	UTSW	12	110632820	missense	possibly damaging	0.68
Strong	UTSW	12	110658126	missense	probably damaging	1.00
waters	UTSW	12	110629679	missense	probably damaging	1.00
ANU05:Dync1h1	UTSW	12	110649104	missense	probably benign	0.31
H8562:Dync1h1	UTSW	12	110616807	missense	probably benign	0.01
R0082:Dync1h1	UTSW	12	110636446	missense	probably benign
R0110:Dync1h1	UTSW	12	110639944	missense	probably benign	0.42
R0130:Dync1h1	UTSW	12	110618674	missense	probably benign	0.16
R0233:Dync1h1	UTSW	12	110640980	missense	probably benign	0.45
R0233:Dync1h1	UTSW	12	110640980	missense	probably benign	0.45
R0242:Dync1h1	UTSW	12	110649851	missense	possibly damaging	0.67
R0242:Dync1h1	UTSW	12	110649851	missense	possibly damaging	0.67
R0408:Dync1h1	UTSW	12	110631692	missense	probably benign
R0450:Dync1h1	UTSW	12	110639944	missense	probably benign	0.42
R0611:Dync1h1	UTSW	12	110632788	missense	probably damaging	0.97
R0612:Dync1h1	UTSW	12	110616496	missense	probably damaging	1.00
R0624:Dync1h1	UTSW	12	110651747	unclassified	probably benign
R0685:Dync1h1	UTSW	12	110657192	missense	probably damaging	1.00
R0747:Dync1h1	UTSW	12	110612411	missense	probably benign
R0747:Dync1h1	UTSW	12	110629284	missense	probably damaging	0.99
R0843:Dync1h1	UTSW	12	110665213	missense	possibly damaging	0.81
R0970:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1161:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1211:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1214:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1215:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1227:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1230:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1232:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1237:Dync1h1	UTSW	12	110665959	missense	probably benign	0.00
R1274:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1275:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1289:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1290:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1331:Dync1h1	UTSW	12	110649264	missense	probably damaging	0.98
R1340:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1383:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1394:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1396:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1397:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1413:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1432:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1500:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1661:Dync1h1	UTSW	12	110656357	missense	probably damaging	1.00
R1678:Dync1h1	UTSW	12	110665662	critical splice acceptor site	probably null
R1698:Dync1h1	UTSW	12	110626992	missense	possibly damaging	0.88
R1767:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1776:Dync1h1	UTSW	12	110632928	splice site	probably benign
R1812:Dync1h1	UTSW	12	110662900	missense	possibly damaging	0.46
R1831:Dync1h1	UTSW	12	110614059	missense	probably damaging	1.00
R1832:Dync1h1	UTSW	12	110614059	missense	probably damaging	1.00
R1856:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1857:Dync1h1	UTSW	12	110662625	missense	probably damaging	0.96
R1879:Dync1h1	UTSW	12	110624636	missense	probably benign	0.04
R1892:Dync1h1	UTSW	12	110646304	missense	probably damaging	1.00
R1909:Dync1h1	UTSW	12	110662629	missense	probably damaging	1.00
R1962:Dync1h1	UTSW	12	110636509	missense	probably benign	0.04
R1974:Dync1h1	UTSW	12	110625732	missense	possibly damaging	0.80
R2073:Dync1h1	UTSW	12	110614592	missense	probably damaging	1.00
R2091:Dync1h1	UTSW	12	110649588	missense	probably benign	0.07
R2113:Dync1h1	UTSW	12	110629986	missense	probably damaging	1.00
R2128:Dync1h1	UTSW	12	110640882	missense	probably damaging	1.00
R2134:Dync1h1	UTSW	12	110656631	missense	possibly damaging	0.68
R2496:Dync1h1	UTSW	12	110641220	missense	possibly damaging	0.65
R2680:Dync1h1	UTSW	12	110643247	missense	probably damaging	1.00
R2890:Dync1h1	UTSW	12	110616891	missense	probably damaging	1.00
R2964:Dync1h1	UTSW	12	110641026	critical splice donor site	probably null
R3705:Dync1h1	UTSW	12	110640586	missense	possibly damaging	0.80
R3708:Dync1h1	UTSW	12	110643129	missense	probably damaging	0.96
R3735:Dync1h1	UTSW	12	110631675	missense	probably benign
R3736:Dync1h1	UTSW	12	110631675	missense	probably benign
R3882:Dync1h1	UTSW	12	110629058	missense	probably benign	0.41
R3971:Dync1h1	UTSW	12	110665965	missense	probably benign	0.00
R4017:Dync1h1	UTSW	12	110643190	missense	probably damaging	1.00
R4032:Dync1h1	UTSW	12	110618049	nonsense	probably null
R4355:Dync1h1	UTSW	12	110632899	missense	possibly damaging	0.55
R4514:Dync1h1	UTSW	12	110657139	missense	possibly damaging	0.76
R4586:Dync1h1	UTSW	12	110649483	missense	probably benign	0.30
R4619:Dync1h1	UTSW	12	110638844	missense	probably benign	0.09
R4659:Dync1h1	UTSW	12	110628767	missense	possibly damaging	0.50
R4676:Dync1h1	UTSW	12	110662541	missense	probably damaging	0.99
R4688:Dync1h1	UTSW	12	110655528	missense	probably damaging	0.99
R4732:Dync1h1	UTSW	12	110649507	nonsense	probably null
R4733:Dync1h1	UTSW	12	110649507	nonsense	probably null
R4780:Dync1h1	UTSW	12	110661196	missense	probably damaging	1.00
R4846:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R4861:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R4861:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R4865:Dync1h1	UTSW	12	110639801	missense	possibly damaging	0.84
R4872:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R4873:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R4874:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R4875:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R4927:Dync1h1	UTSW	12	110662855	missense	possibly damaging	0.82
R4949:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R4954:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R4956:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R4957:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R4958:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R4984:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R4985:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R4988:Dync1h1	UTSW	12	110658126	missense	probably damaging	1.00
R5029:Dync1h1	UTSW	12	110618010	missense	possibly damaging	0.46
R5032:Dync1h1	UTSW	12	110626892	nonsense	probably null
R5036:Dync1h1	UTSW	12	110630535	missense	probably damaging	1.00
R5037:Dync1h1	UTSW	12	110640907	missense	probably benign	0.09
R5105:Dync1h1	UTSW	12	110617932	missense	probably damaging	0.99
R5122:Dync1h1	UTSW	12	110629680	missense	probably damaging	1.00
R5156:Dync1h1	UTSW	12	110628830	missense	probably benign	0.00
R5290:Dync1h1	UTSW	12	110615068	missense	probably benign	0.03
R5453:Dync1h1	UTSW	12	110632665	missense	probably benign	0.12
R5540:Dync1h1	UTSW	12	110660950	missense	probably benign	0.00
R5613:Dync1h1	UTSW	12	110632820	missense	possibly damaging	0.68
R5626:Dync1h1	UTSW	12	110641141	missense	probably benign	0.01
R5652:Dync1h1	UTSW	12	110665988	missense	possibly damaging	0.70
R5655:Dync1h1	UTSW	12	110629062	missense	probably benign	0.03
R5686:Dync1h1	UTSW	12	110616404	missense	probably benign	0.35
R5772:Dync1h1	UTSW	12	110646273	nonsense	probably null
R5806:Dync1h1	UTSW	12	110651653	missense	probably damaging	1.00
R5891:Dync1h1	UTSW	12	110614220	critical splice donor site	probably null
R5921:Dync1h1	UTSW	12	110618368	missense	probably damaging	1.00
R5965:Dync1h1	UTSW	12	110632778	missense	probably benign
R6113:Dync1h1	UTSW	12	110620414	missense	probably benign
R6119:Dync1h1	UTSW	12	110628006	missense	possibly damaging	0.82
R6154:Dync1h1	UTSW	12	110617993	missense	probably damaging	1.00
R6339:Dync1h1	UTSW	12	110646205	missense	probably damaging	0.97
R6522:Dync1h1	UTSW	12	110616737	missense	probably damaging	0.99
R6531:Dync1h1	UTSW	12	110617920	missense	probably damaging	1.00
R6554:Dync1h1	UTSW	12	110649848	missense	probably benign	0.06
R6672:Dync1h1	UTSW	12	110658134	missense	probably damaging	1.00
R6746:Dync1h1	UTSW	12	110651653	missense	probably damaging	1.00
R6785:Dync1h1	UTSW	12	110629679	missense	probably damaging	1.00
R6857:Dync1h1	UTSW	12	110658547	missense	possibly damaging	0.94
R6863:Dync1h1	UTSW	12	110652180	missense	probably benign	0.07
R6881:Dync1h1	UTSW	12	110624561	missense	probably damaging	1.00
R6892:Dync1h1	UTSW	12	110638901	missense	probably benign	0.00
R7015:Dync1h1	UTSW	12	110666087	nonsense	probably null
R7096:Dync1h1	UTSW	12	110657078	missense	probably damaging	0.99
R7173:Dync1h1	UTSW	12	110601739	missense	probably benign
R7224:Dync1h1	UTSW	12	110617762	missense	possibly damaging	0.93
R7295:Dync1h1	UTSW	12	110664749	critical splice donor site	probably null
R7308:Dync1h1	UTSW	12	110665162	missense	possibly damaging	0.91
R7346:Dync1h1	UTSW	12	110635642	missense	probably damaging	1.00
R7359:Dync1h1	UTSW	12	110624602	missense	probably benign	0.00
R7405:Dync1h1	UTSW	12	110634220	missense	probably damaging	1.00
R7439:Dync1h1	UTSW	12	110636453	missense	probably damaging	1.00
R7441:Dync1h1	UTSW	12	110636453	missense	probably damaging	1.00
R7472:Dync1h1	UTSW	12	110665675	missense	probably damaging	0.99
R7532:Dync1h1	UTSW	12	110651577	missense	probably benign	0.00
R7543:Dync1h1	UTSW	12	110614107	missense	probably benign	0.04
R7555:Dync1h1	UTSW	12	110630625	missense	probably benign	0.03
R7632:Dync1h1	UTSW	12	110660893	missense	probably benign	0.10
R7701:Dync1h1	UTSW	12	110618646	missense	probably damaging	1.00
R7704:Dync1h1	UTSW	12	110665766	missense	probably damaging	1.00
R7808:Dync1h1	UTSW	12	110655459	missense	possibly damaging	0.53
Z1088:Dync1h1	UTSW	12	110629917	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGAATGTACCCAAAGTGTCTGGG -3'
(R):5'- CGGGTGAAGTTCAGGTAGAC -3'

Sequencing Primer
(F):5'- TACCCAAAGTGTCTGGGCAGAG -3'
(R):5'- TTCAGGTAGACAGGTAAGGTCACC -3'

Posted On

2014-08-25