Mutagenetix > Incidental Mutations

Incidental Mutation 'R3971:Dync1h1'

310986

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

040839-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3971 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110601452-110666945 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110665965 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 4506 (H4506R)

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 benign
Transcript: ENSMUST00000018851
AA Change: H4506R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000018851
Gene: ENSMUSG00000018707
AA Change: H4506R

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

Meta Mutation Damage Score

0.1003

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.3%

Validation Efficiency

95% (38/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	C	7: 118,833,799	I585T	probably damaging	Het
Aadat	C	T	8: 60,518,581	P147L	probably damaging	Het
Apbb1ip	T	A	2: 22,823,494	D120E	unknown	Het
Atp10b	A	G	11: 43,216,512	D791G	probably damaging	Het
Aunip	A	G	4: 134,523,469	K242E	possibly damaging	Het
BC067074	A	G	13: 113,317,126	E41G	probably damaging	Het
Ccdc80	A	G	16: 45,095,820	E313G	probably benign	Het
Cd72	C	T	4: 43,449,491	R275H	probably damaging	Het
Chrnb1	A	G	11: 69,792,916		probably benign	Het
Coro2b	C	T	9: 62,429,240	A251T	possibly damaging	Het
Ddr2	A	G	1: 169,988,417	F574L	probably damaging	Het
Dock1	G	A	7: 134,746,908	D284N	probably damaging	Het
Fam174b	T	C	7: 73,766,600	V147A	probably damaging	Het
Glp2r	T	A	11: 67,746,815	D130V	possibly damaging	Het
Gm18856	A	T	13: 13,964,848		probably benign	Het
Gm7247	A	G	14: 51,365,384	Y59C	probably damaging	Het
Hecw1	T	C	13: 14,236,929	D1062G	probably damaging	Het
Ifit2	A	G	19: 34,574,041	E327G	probably benign	Het
Ighv1-37	A	T	12: 114,896,459	S43T	probably damaging	Het
Man2b1	A	G	8: 85,085,391	N158S	probably damaging	Het
Mcoln1	T	A	8: 3,507,408	I138K	probably benign	Het
Mki67	A	C	7: 135,696,130	S2392A	probably benign	Het
Mrc2	G	A	11: 105,328,031	D193N	possibly damaging	Het
Myo5b	C	T	18: 74,740,527	L1501F	probably damaging	Het
Nckap1l	A	G	15: 103,462,560	K189E	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr816	T	C	10: 129,911,873	N135S	probably benign	Het
Otop1	A	G	5: 38,300,189	I431V	probably benign	Het
Psma8	A	G	18: 14,757,387	K195E	possibly damaging	Het
Rbm25	A	G	12: 83,675,208	T723A	probably benign	Het
Sema3b	A	G	9: 107,600,368	S485P	probably benign	Het
Slc12a2	T	A	18: 57,930,196	L916Q	possibly damaging	Het
Spata31d1a	T	A	13: 59,702,157	D719V	possibly damaging	Het
Synj1	A	G	16: 90,991,603	S86P	probably damaging	Het
Tmem130	T	A	5: 144,755,321	H91L	probably benign	Het
Tsc2	T	C	17: 24,623,588	D288G	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Wac	T	C	18: 7,916,175	V303A	probably damaging	Het
Zfhx2	A	G	14: 55,074,475	V254A	probably benign	Het
Zfp993	A	G	4: 146,657,632	T138A	probably benign	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	splice site	probably null
IGL03293:Dync1h1	APN	12	110628734	missense	probably benign	0.12
IGL03299:Dync1h1	APN	12	110619210	missense	possibly damaging	0.49
chinashop	UTSW	12	110658134	missense	probably damaging	1.00
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
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
R7891:Dync1h1	UTSW	12	110643156	missense	probably benign	0.02
R7895:Dync1h1	UTSW	12	110616457	missense	probably damaging	1.00
R7913:Dync1h1	UTSW	12	110628734	missense	probably benign	0.12
R8164:Dync1h1	UTSW	12	110616360	missense	possibly damaging	0.91
R8257:Dync1h1	UTSW	12	110636474	missense	probably damaging	1.00
R8346:Dync1h1	UTSW	12	110665792	missense	probably benign	0.21
R8432:Dync1h1	UTSW	12	110618142	missense	probably benign	0.00
R8510:Dync1h1	UTSW	12	110616743	missense	possibly damaging	0.94
Z1088:Dync1h1	UTSW	12	110629917	frame shift	probably null
Z1177:Dync1h1	UTSW	12	110637554	missense	probably damaging	1.00
Z1177:Dync1h1	UTSW	12	110641177	frame shift	probably null
Z1177:Dync1h1	UTSW	12	110658517	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTCACAAGCAGCTGCATCTG -3'
(R):5'- TTTCACAGAAAGGCCAGGCTG -3'

Sequencing Primer
(F):5'- TGGTGGTGCCAAGGAACTG -3'
(R):5'- TGAGAGATCAGACGCCAGCTC -3'

Posted On

2015-04-29