Mutagenetix > Incidental Mutation

Incidental Mutation 'R9090:Dync1h1'

690941

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9090 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110601452-110666945 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110616876 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 469 (R469L)

Ref Sequence

ENSEMBL: ENSMUSP00000018851 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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: R469L

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

SMART Domains

Protein: ENSMUSP00000018851
Gene: ENSMUSG00000018707
AA Change: R469L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 120,011,114	S819T	probably damaging	Het
Abca13	A	T	11: 9,291,698	D1187V	probably damaging	Het
AF366264	T	C	8: 13,836,697	T465A	possibly damaging	Het
Ak9	C	A	10: 41,424,627	T1611K	unknown	Het
Als2	G	T	1: 59,203,030	T622K	probably benign	Het
Ankrd40	G	A	11: 94,334,436	A98T	probably benign	Het
Ap1b1	T	C	11: 5,023,174	L339P	probably damaging	Het
Appl1	A	C	14: 26,947,127	H363Q	probably benign	Het
Atf6	T	C	1: 170,794,676	N459D	probably damaging	Het
Ccdc129	G	T	6: 55,967,066	R417L	probably benign	Het
Ccdc6	A	T	10: 70,189,163	Q432L	unknown	Het
Ccl21a	T	A	4: 42,773,486	Q84L	probably damaging	Het
Cct4	A	G	11: 23,001,389	I348V	probably benign	Het
Cd300ld2	A	G	11: 115,013,724	Y106H	probably damaging	Het
Cdh19	C	T	1: 110,949,217	E131K	probably damaging	Het
Cdon	A	G	9: 35,491,879	D1095G	probably damaging	Het
Cep85l	T	A	10: 53,281,574	R678*	probably null	Het
Chst3	T	A	10: 60,185,643	S461C	probably damaging	Het
Clk1	A	G	1: 58,420,153	I149T	possibly damaging	Het
Clvs2	T	A	10: 33,513,305	D313V	possibly damaging	Het
Dap3	T	C	3: 88,933,606	T75A	probably benign	Het
Dnaaf1	T	A	8: 119,597,653	F631L	probably benign	Het
Dnah14	A	T	1: 181,769,760	N3549I	probably benign	Het
Dnah17	A	T	11: 118,041,044	Y3701N	probably damaging	Het
Dock6	A	G	9: 21,841,500	V339A	possibly damaging	Het
Dpp6	T	A	5: 27,598,834	C259*	probably null	Het
Dqx1	A	G	6: 83,059,043	T119A	probably benign	Het
Eno4	C	T	19: 58,962,828	A424V	probably benign	Het
Fads1	T	A	19: 10,185,798	D146E	probably damaging	Het
Fam171a1	C	T	2: 3,223,506	T303M	probably damaging	Het
Fam189a2	A	T	19: 23,994,857	I161N	possibly damaging	Het
Fam71a	A	G	1: 191,162,956	S497P	probably damaging	Het
Fbxw20	C	T	9: 109,221,355	D401N	probably benign	Het
Fcho1	T	A	8: 71,710,424	T654S	possibly damaging	Het
Flad1	C	A	3: 89,408,551	E235*	probably null	Het
Flrt2	G	T	12: 95,779,133	A82S	probably benign	Het
Gabrg3	A	T	7: 57,179,638	S124T	probably benign	Het
Galt	C	T	4: 41,756,777	T139I	probably benign	Het
Gfod1	T	C	13: 43,303,385	E38G	possibly damaging	Het
Gm10330	A	G	12: 23,779,991	I63T	possibly damaging	Het
Gm15448	T	A	7: 3,816,998	E640V	unknown	Het
Gm49359	A	G	13: 62,455,053	V111A	probably benign	Het
Gpank1	C	T	17: 35,121,758		probably benign	Het
Hck	T	C	2: 153,131,265	L156P	probably damaging	Het
Hcn3	G	T	3: 89,149,960	R444S	probably damaging	Het
Hephl1	T	C	9: 15,076,940	N624S	probably damaging	Het
Hmcn1	A	G	1: 150,756,558	I876T	probably damaging	Het
Ifi207	CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,729,196		probably benign	Het
Itga9	T	A	9: 118,671,791	D377E	possibly damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Klk11	C	T	7: 43,776,530	L32F	probably benign	Het
Lta4h	A	G	10: 93,474,550	S427G	probably benign	Het
Lxn	T	A	3: 67,461,318	I122F	probably damaging	Het
Lyz1	A	G	10: 117,288,587	V148A	possibly damaging	Het
Mael	G	T	1: 166,204,855	Q326K	probably benign	Het
Magi3	T	C	3: 104,015,948	D1151G	possibly damaging	Het
Map3k9	C	A	12: 81,722,487	G929V	probably benign	Het
Mcoln1	A	G	8: 3,505,771	Y22C	probably damaging	Het
Mier3	G	T	13: 111,691,336	M45I	probably benign	Het
Mrpl1	T	C	5: 96,223,887	V91A	probably damaging	Het
Myo7a	T	C	7: 98,091,074	H571R	probably benign	Het
Myom1	T	A	17: 71,067,330	W601R	probably damaging	Het
Myom3	C	T	4: 135,778,168	T456I	probably benign	Het
Nags	A	T	11: 102,146,758	H225L	probably benign	Het
Ncaph	C	A	2: 127,116,634	K488N	probably damaging	Het
Nkain3	C	T	4: 20,484,897	R60H	probably damaging	Het
Nlrp9a	A	T	7: 26,562,519	M698L	probably benign	Het
Nmur2	A	C	11: 56,040,482	I134M	probably benign	Het
Nrp2	A	C	1: 62,745,511	E273A	probably benign	Het
Nup85	A	G	11: 115,577,961	D210G	possibly damaging	Het
Obscn	A	G	11: 59,115,817	F1173S	probably damaging	Het
Olfr206	A	T	16: 59,344,782	C306*	probably null	Het
Otogl	T	A	10: 107,817,113	E1126V	probably null	Het
Pfkl	T	C	10: 77,997,592	I259V	probably benign	Het
Phkg1	A	T	5: 129,865,022	Y291N	probably benign	Het
Piezo2	T	G	18: 63,030,379	H2156P	probably damaging	Het
Piezo2	C	A	18: 63,075,719	V1408L	probably damaging	Het
Plekhg3	A	G	12: 76,575,920	T646A	probably benign	Het
Plk5	C	G	10: 80,357,996	R40G	probably damaging	Het
Ppp1r12a	T	C	10: 108,262,363	S838P	probably damaging	Het
Rarb	A	T	14: 16,435,235	Y270*	probably null	Het
Rbm15	T	C	3: 107,331,996	E362G	possibly damaging	Het
Rcan1	A	G	16: 92,465,853	F76L		Het
Rdh19	T	C	10: 127,860,273	L298P	probably damaging	Het
Rims1	T	A	1: 22,428,522	H57L		Het
Rlf	T	C	4: 121,147,554	T1520A	probably benign	Het
Rnase1	T	A	14: 51,145,507	H130L	possibly damaging	Het
Samd8	T	A	14: 21,792,501	M360K	probably damaging	Het
Samhd1	A	G	2: 157,114,285	L329P	probably damaging	Het
Scube1	C	T	15: 83,610,193	E878K	probably damaging	Het
Sema3b	T	C	9: 107,598,955	Y689C	probably damaging	Het
Sh3pxd2b	A	T	11: 32,423,361	N843Y	possibly damaging	Het
Slco1a6	C	T	6: 142,089,849	C583Y	probably damaging	Het
Smg1	A	C	7: 118,212,563	V88G	unknown	Het
Spata24	T	A	18: 35,657,001	N146Y	probably damaging	Het
Tcf3	C	A	10: 80,417,357	V258L	probably benign	Het
Tiam2	T	C	17: 3,414,736	Y247H	probably damaging	Het
Ticrr	T	C	7: 79,660,856	F173L	possibly damaging	Het
Tpp2	A	G	1: 43,954,651	E232G	probably damaging	Het
Trank1	T	A	9: 111,345,479	V138E	probably damaging	Het
Ttll3	T	C	6: 113,392,635	S47P	probably benign	Het
Utp4	C	T	8: 106,906,225	T280M	probably damaging	Het
Vmn1r123	A	T	7: 21,162,869	N229Y	probably benign	Het
Vmn1r85	A	T	7: 13,085,015	Y67*	probably null	Het
Zbtb12	T	A	17: 34,895,344	V35E	possibly damaging	Het
Zmym6	T	A	4: 127,124,061	F1212I	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	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
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
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
R8731:Dync1h1	UTSW	12	110640584	missense	possibly damaging	0.93
R8739:Dync1h1	UTSW	12	110614580	missense	probably damaging	1.00
R8756:Dync1h1	UTSW	12	110616827	missense	probably benign	0.06
R8855:Dync1h1	UTSW	12	110635899	missense	probably damaging	1.00
R8866:Dync1h1	UTSW	12	110635899	missense	probably damaging	1.00
R8885:Dync1h1	UTSW	12	110616738	missense	probably damaging	1.00
R8893:Dync1h1	UTSW	12	110642043	missense	probably damaging	1.00
R8913:Dync1h1	UTSW	12	110658168	missense	probably benign	0.14
R8937:Dync1h1	UTSW	12	110618037	missense	probably damaging	1.00
R8958:Dync1h1	UTSW	12	110620371	missense	probably benign	0.00
R9000:Dync1h1	UTSW	12	110639963	missense	probably benign
R9036:Dync1h1	UTSW	12	110639752	missense	probably benign
R9108:Dync1h1	UTSW	12	110656272	intron	probably benign
R9161:Dync1h1	UTSW	12	110658589	missense	probably benign	0.01
R9185:Dync1h1	UTSW	12	110635503	missense	probably benign	0.33
R9271:Dync1h1	UTSW	12	110616876	missense	probably benign	0.06
R9436:Dync1h1	UTSW	12	110616541	missense	probably damaging	1.00
R9478:Dync1h1	UTSW	12	110658703	missense	probably benign	0.02
R9547:Dync1h1	UTSW	12	110658371	missense	probably damaging	1.00
R9561:Dync1h1	UTSW	12	110649099	missense	probably damaging	0.99
R9586:Dync1h1	UTSW	12	110616541	missense	probably damaging	1.00
R9609:Dync1h1	UTSW	12	110640928	missense	probably benign	0.01
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'- GAGCCATCTCCCAACTGTAC -3'
(R):5'- TATAACAGCGTAACAGCCTCAGG -3'

Sequencing Primer
(F):5'- TCCCAACTGTACCCAGGTCATG -3'
(R):5'- CGTAACAGCCTCAGGATCGAG -3'

Posted On

2021-12-30