Mutagenetix > Incidental Mutation

Incidental Mutation 'R2113:Dync1h1'

232824

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

040117-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110601452-110666945 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110629986 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1623 (S1623P)

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 damaging
Transcript: ENSMUST00000018851
AA Change: S1623P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000018851
Gene: ENSMUSG00000018707
AA Change: S1623P

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,268,772	V549A	probably benign	Het
Abcd4	C	A	12: 84,609,016	G295*	probably null	Het
Acad9	T	C	3: 36,074,376	Y129H	probably damaging	Het
Actn4	C	T	7: 28,898,124	G608D	probably benign	Het
Adcyap1r1	T	A	6: 55,481,115	N300K	probably damaging	Het
Adh5	A	G	3: 138,451,484	I269V	probably benign	Het
Afap1l2	G	A	19: 56,913,389	A842V	possibly damaging	Het
AI429214	A	T	8: 36,994,000	K101*	probably null	Het
Alg10b	T	A	15: 90,225,657	W58R	probably damaging	Het
Alpk2	C	T	18: 65,305,683	E1347K	probably benign	Het
Amotl2	G	T	9: 102,724,723	E389*	probably null	Het
Ap5m1	G	A	14: 49,086,248	R465Q	probably damaging	Het
Apoa1	A	C	9: 46,229,214	S48R	probably damaging	Het
Asb1	T	C	1: 91,544,228	L34P	probably damaging	Het
Atg14	C	T	14: 47,551,324	A191T	probably damaging	Het
Atp13a4	C	T	16: 29,441,284	V235I	possibly damaging	Het
Atrnl1	C	T	19: 57,755,616	Q1217*	probably null	Het
Bsn	A	T	9: 108,114,886	H1222Q	probably benign	Het
Catsper4	A	T	4: 134,218,241	V169E	probably damaging	Het
Cbx4	C	T	11: 119,081,892	G219E	probably damaging	Het
Ccdc136	C	T	6: 29,413,032	T406I	possibly damaging	Het
Celsr3	A	T	9: 108,838,470	Y2117F	probably damaging	Het
Cenpf	T	A	1: 189,679,102	Q295L	probably damaging	Het
Ces1b	A	G	8: 93,068,155	V272A	probably benign	Het
Cgn	A	T	3: 94,779,806	V62D	probably damaging	Het
Ckap4	T	G	10: 84,533,523	Q115P	possibly damaging	Het
Clec10a	T	C	11: 70,169,824		probably null	Het
Clmn	A	T	12: 104,780,808	S827T	probably benign	Het
Cntn4	T	C	6: 106,489,697	S187P	probably damaging	Het
Cntnap5a	A	T	1: 116,188,365	I526F	probably damaging	Het
Cntnap5b	A	G	1: 100,274,415	Q329R	probably benign	Het
Col1a1	T	A	11: 94,948,362	S979T	unknown	Het
Crat	T	A	2: 30,402,642	Y606F	probably benign	Het
Cyp2c29	G	T	19: 39,330,264	C396F	probably damaging	Het
Cyp2d34	G	T	15: 82,617,616	P231Q	probably damaging	Het
Ddi2	A	T	4: 141,703,280		probably null	Het
Dicer1	A	T	12: 104,713,214	H501Q	probably damaging	Het
Dnah12	A	G	14: 26,766,141	I1001V	probably damaging	Het
Dnase2a	T	A	8: 84,910,871	C301S	probably damaging	Het
Dock10	T	A	1: 80,606,563	D142V	probably damaging	Het
Dpp8	G	A	9: 65,063,868	C590Y	probably benign	Het
Dst	T	A	1: 34,275,236	M6707K	probably damaging	Het
Duox1	T	C	2: 122,337,254	V1006A	probably benign	Het
Ehmt1	A	T	2: 24,804,003	D1011E	probably damaging	Het
Epc2	T	A	2: 49,532,223	D376E	probably benign	Het
Eps8	C	A	6: 137,537,635		probably null	Het
F11	T	C	8: 45,246,832	T406A	probably benign	Het
Fat3	T	G	9: 15,999,786	D1640A	probably damaging	Het
Fbxo15	A	T	18: 84,959,105	R47S	probably benign	Het
Fbxo28	A	T	1: 182,329,925	V109E	probably damaging	Het
Fn1	A	T	1: 71,626,164	S931R	probably damaging	Het
Fndc3b	T	C	3: 27,643,036	D9G	probably damaging	Het
Frem2	G	A	3: 53,652,922	T1388I	probably damaging	Het
Fstl3	C	A	10: 79,781,178	T185N	probably damaging	Het
Glo1	A	T	17: 30,604,040	Y49*	probably null	Het
Gtsf2	T	C	15: 103,439,673	M137V	probably benign	Het
Gzmk	C	T	13: 113,173,955	G110S	probably benign	Het
Hdac9	G	T	12: 34,389,332	S428R	probably damaging	Het
Hnrnpul1	G	A	7: 25,733,269	T456I	possibly damaging	Het
Ino80	T	A	2: 119,454,084	H172L	probably damaging	Het
Itgb8	A	C	12: 119,190,612	L230R	probably damaging	Het
Klf9	C	T	19: 23,164,688	R171W	probably damaging	Het
Kmt2b	G	T	7: 30,583,387	P1050Q	probably damaging	Het
Krt15	A	T	11: 100,135,658	F67L	unknown	Het
Maml3	T	A	3: 51,690,656	Y223F	probably damaging	Het
Mcm9	C	T	10: 53,615,847		probably null	Het
Mettl3	A	G	14: 52,294,984	*104Q	probably null	Het
Msrb3	T	A	10: 120,852,080	D30V	possibly damaging	Het
Mycbp2	T	C	14: 103,220,076	T1562A	probably damaging	Het
Nat14	T	C	7: 4,924,039	V70A	possibly damaging	Het
Nbeal2	T	C	9: 110,625,406	T2685A	probably damaging	Het
Nek1	A	G	8: 61,016,293	D128G	probably damaging	Het
Nfam1	T	A	15: 83,015,001	K155*	probably null	Het
Noc4l	A	T	5: 110,650,559	M255K	possibly damaging	Het
Nolc1	CAG	CAGGAG	19: 46,081,359		probably benign	Het
Nolc1	GCA	GCAACA	19: 46,081,361		probably benign	Het
Nprl2	T	C	9: 107,545,312	S334P	probably benign	Het
Nsrp1	A	G	11: 77,046,570	S267P	probably benign	Het
Ntn4	A	T	10: 93,644,839	M142L	probably damaging	Het
Nup188	T	A	2: 30,304,101	C139*	probably null	Het
Nup210l	A	T	3: 90,190,974	N1411I	possibly damaging	Het
Olfr1510	A	G	14: 52,410,296	L192P	probably damaging	Het
Olfr994	T	G	2: 85,430,086	T248P	probably damaging	Het
Pard3	A	T	8: 127,388,537	T579S	probably damaging	Het
Pcnx3	G	T	19: 5,671,556	D1071E	possibly damaging	Het
Pi4k2a	T	A	19: 42,115,071	I340N	possibly damaging	Het
Pkdrej	T	A	15: 85,818,984	D917V	probably damaging	Het
Plekhg4	T	A	8: 105,379,434	F821Y	probably damaging	Het
Ptgfrn	C	T	3: 101,077,309	R189H	probably benign	Het
Ptpn18	T	A	1: 34,471,661	S235R	probably damaging	Het
Rabep2	A	G	7: 126,445,288		probably null	Het
Rbp3	T	G	14: 33,956,057	I654S	probably benign	Het
Rimbp3	T	C	16: 17,209,675	L321P	probably benign	Het
Rims2	T	A	15: 39,511,326	M1028K	probably benign	Het
Ruvbl1	T	A	6: 88,483,021	V221D	probably damaging	Het
Ruvbl2	A	T	7: 45,424,103		probably null	Het
Scn7a	C	T	2: 66,675,968	D1526N	probably damaging	Het
Scnn1a	T	C	6: 125,337,811	F218S	possibly damaging	Het
Sh3tc2	T	A	18: 62,013,105	M1185K	probably damaging	Het
Slain1	C	A	14: 103,650,846	D67E	possibly damaging	Het
Snx33	T	C	9: 56,926,440	D115G	probably benign	Het
Sowaha	G	A	11: 53,478,962	R316C	probably damaging	Het
Spata17	A	T	1: 187,097,911	F309I	possibly damaging	Het
Spata48	G	A	11: 11,490,293		probably null	Het
Ssrp1	G	T	2: 85,043,006		probably null	Het
St6gal1	C	G	16: 23,328,417	T225S	probably damaging	Het
Sulf1	C	G	1: 12,848,174	F38L	probably damaging	Het
Tbc1d7	G	A	13: 43,153,086	T138M	probably damaging	Het
Tdpoz4	T	A	3: 93,797,044	M216K	probably damaging	Het
Tmem200a	A	G	10: 25,993,322	S350P	probably damaging	Het
Tnpo3	A	T	6: 29,551,872	D903E	probably benign	Het
Trpc4ap	A	T	2: 155,657,936	I222N	probably damaging	Het
Trrap	T	A	5: 144,844,211	Y3261N	probably damaging	Het
Ttn	A	G	2: 76,712,610	V33344A	possibly damaging	Het
Uchl4	A	T	9: 64,235,536	T100S	probably damaging	Het
Uxs1	A	G	1: 43,771,773	Y97H	probably damaging	Het
Vmn1r192	A	T	13: 22,187,630	V140D	possibly damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r7	A	G	3: 64,691,604	S511P	possibly damaging	Het
Vmn2r88	T	C	14: 51,418,194	L621P	probably damaging	Het
Vps45	A	T	3: 96,047,053	M174K	probably benign	Het
Wdr72	A	T	9: 74,145,172	M162L	probably benign	Het
Wdr81	T	A	11: 75,453,635	M269L	probably benign	Het
Zfp53	A	G	17: 21,508,451	T249A	probably benign	Het
Zfp758	T	C	17: 22,361,645	S22P	probably benign	Het
Zfp780b	T	C	7: 27,963,873	D419G	possibly damaging	Het
Zfp934	A	T	13: 62,518,693	Y45N	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
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
R9090:Dync1h1	UTSW	12	110616876	missense	probably benign	0.06
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'- TGCTTCTTTAGTATCAGCACGG -3'
(R):5'- AGGGATTCAAGTGGCTTACAG -3'

Sequencing Primer
(F):5'- ATCAGCACGGAGTTTTTGGCTC -3'
(R):5'- TAGTGATGCTTAGTAAGATTAAGGCG -3'

Posted On

2014-09-18