Mutagenetix > Incidental Mutations

Incidental Mutation 'R5290:Dync1h1'

424674

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

042873-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110601452-110666945 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110615068 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 316 (T316S)

Ref Sequence

ENSEMBL: ENSMUSP00000018851 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000018851
AA Change: T316S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000018851
Gene: ENSMUSG00000018707
AA Change: T316S

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

Meta Mutation Damage Score

0.0610

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (70/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008E08Rik	A	T	16: 90,554,210		noncoding transcript	Het
2700049A03Rik	C	A	12: 71,188,791	P1172T	probably benign	Het
Abi3bp	T	A	16: 56,642,475		probably null	Het
Apod	T	A	16: 31,311,066	H24L	probably damaging	Het
Arfgef3	T	C	10: 18,600,460	E1537G	probably damaging	Het
B020004C17Rik	T	C	14: 57,016,579	V53A	possibly damaging	Het
Ccdc113	C	A	8: 95,540,796		probably null	Het
Cd7	T	G	11: 121,038,110	D105A	probably damaging	Het
Celsr3	C	T	9: 108,843,158	T2550M	probably benign	Het
Col6a5	C	T	9: 105,946,083	G25D	unknown	Het
Cps1	A	G	1: 67,172,709	M679V	probably benign	Het
Edrf1	T	C	7: 133,650,566	Y449H	probably damaging	Het
Fam92a	T	C	4: 12,171,195	Q86R	probably benign	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Flg2	A	T	3: 93,220,566	I2262L	unknown	Het
Flnc	T	C	6: 29,457,554	L2417P	probably damaging	Het
Gabrp	A	T	11: 33,567,310	Y121N	probably damaging	Het
Gdpd4	A	G	7: 97,966,336	T123A	possibly damaging	Het
Gm4763	T	C	7: 24,723,411	E79G	probably benign	Het
Gpr162	C	A	6: 124,861,269	M139I	probably benign	Het
Greb1l	G	A	18: 10,542,427	E1341K	probably damaging	Het
Gsn	G	A	2: 35,296,472	S410N	probably benign	Het
Gtf2f2	T	C	14: 75,897,649	Y212C	probably damaging	Het
Hao2	C	T	3: 98,877,177	A291T	probably damaging	Het
Igkv1-133	A	G	6: 67,725,579	T94A	possibly damaging	Het
Irf2bp1	G	A	7: 19,004,998	A188T	possibly damaging	Het
Itpr1	T	C	6: 108,406,145	V1478A	possibly damaging	Het
Kdm5b	T	C	1: 134,622,099		probably null	Het
Kif5b	A	T	18: 6,234,882	D49E	probably damaging	Het
Lmbr1l	A	G	15: 98,912,242	W113R	probably damaging	Het
Lrp2	T	C	2: 69,513,354	D887G	probably damaging	Het
Lrrc14	T	A	15: 76,713,943	M291K	probably benign	Het
Mgarp	G	A	3: 51,388,966	A205V	possibly damaging	Het
Msl2	T	C	9: 101,101,407		probably null	Het
Nfix	G	A	8: 84,713,777	Q487*	probably null	Het
Notch4	T	C	17: 34,565,289	V22A	probably benign	Het
Npc1l1	T	A	11: 6,222,221	Q823L	probably benign	Het
Obox3	T	C	7: 15,626,849	K122E	probably benign	Het
Olfr282	T	C	15: 98,438,332	Y288H	probably damaging	Het
Olfr446	A	G	6: 42,928,038	K269R	probably damaging	Het
Olfr509	C	T	7: 108,646,548	M9I	probably benign	Het
Plekhh3	T	A	11: 101,166,571	M287L	possibly damaging	Het
Prpf3	A	T	3: 95,853,545	I15K	probably benign	Het
Rpl12-ps1	G	T	1: 36,958,342		noncoding transcript	Het
Rps8	G	C	4: 117,155,155		probably benign	Het
Setd2	T	C	9: 110,617,831	V2489A	probably damaging	Het
Slfn10-ps	T	A	11: 83,029,025		noncoding transcript	Het
Smad2	C	T	18: 76,262,724	P78L	probably damaging	Het
Spen	G	A	4: 141,473,816	T2500I	probably damaging	Het
Stmnd1	A	G	13: 46,299,598	D250G	probably benign	Het
Tjp2	T	G	19: 24,131,204	E181D	probably benign	Het
Tmem131l	T	C	3: 83,899,265	D1478G	probably benign	Het
Trim72	G	T	7: 128,010,004	R326L	probably benign	Het
Ttn	A	T	2: 76,897,240		probably benign	Het
Vmn1r177	A	T	7: 23,866,073	M126K	probably damaging	Het
Vmn1r57	A	G	7: 5,221,320	I281M	probably damaging	Het
Vmn2r108	C	A	17: 20,471,403	R286L	probably benign	Het
Wdr25	T	C	12: 108,898,042	S38P	probably benign	Het
Wdr78	A	T	4: 103,049,533	D694E	probably benign	Het
Zfp937	T	A	2: 150,238,309	Y86*	probably null	Het
Zfr2	CTCAGACTGGTGTCAGAC	CTCAGAC	10: 81,246,710		probably null	Het
Zswim1	C	T	2: 164,825,925	H366Y	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
R1999:Dync1h1	UTSW	12	110666423	critical splice donor site	probably null
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
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'- CTTGACCGGGATCCAGCAT -3'
(R):5'- AGCTTCCTTCACAGGGCTAAC -3'

Sequencing Primer
(F):5'- CGGGATCCAGCATCAGGAAC -3'
(R):5'- TTTAATCCCAGCACTCGGGAG -3'

Posted On

2016-08-04