Mutagenetix > Incidental Mutation

Incidental Mutation 'R8739:Dync1h1'

663239

Institutional Source

Beutler Lab

Gene Symbol

Dync1h1

Ensembl Gene

ENSMUSG00000018707

Gene Name

dynein cytoplasmic 1 heavy chain 1

Synonyms

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

MMRRC Submission

068586-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8739 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110567886-110633379 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110581014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 247 (V247A)

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: V247A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000018851
Gene: ENSMUSG00000018707
AA Change: V247A

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

0.5016

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (59/59)

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
Adam24	T	C	8: 41,133,480 (GRCm39)	V316A	possibly damaging	Het
Adamts9	T	C	6: 92,831,261 (GRCm39)	E1364G	probably benign	Het
Agrn	C	T	4: 156,257,045 (GRCm39)	R1233Q	probably benign	Het
Ankrd6	A	G	4: 32,806,337 (GRCm39)	S639P	possibly damaging	Het
Arid5a	A	G	1: 36,358,677 (GRCm39)	N418S	probably benign	Het
Cep152	T	C	2: 125,461,975 (GRCm39)	E69G	probably benign	Het
Chrnb2	A	G	3: 89,669,746 (GRCm39)	S109P	probably damaging	Het
Chuk	A	G	19: 44,077,135 (GRCm39)	S404P	probably benign	Het
Clec4a3	T	C	6: 122,944,508 (GRCm39)	Y185H	probably damaging	Het
Dctd	T	A	8: 48,591,883 (GRCm39)	L149H	probably benign	Het
Dgkb	T	A	12: 38,278,323 (GRCm39)		probably benign	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dnah5	G	A	15: 28,346,006 (GRCm39)	A2449T	probably benign	Het
Eef1ece2	G	A	16: 20,449,665 (GRCm39)		probably benign	Het
Espnl	T	A	1: 91,272,317 (GRCm39)	L559Q	probably damaging	Het
Gak	A	G	5: 108,739,604 (GRCm39)	V627A	possibly damaging	Het
Gcnt1	A	T	19: 17,307,437 (GRCm39)	M96K	probably benign	Het
Ggta1	T	C	2: 35,292,572 (GRCm39)	D245G	probably damaging	Het
Hfm1	A	T	5: 107,046,371 (GRCm39)	F505Y	probably damaging	Het
Inpp4a	A	G	1: 37,422,207 (GRCm39)		probably benign	Het
Kcnj14	C	G	7: 45,468,812 (GRCm39)	R231P	probably damaging	Het
Lamc2	A	T	1: 153,020,399 (GRCm39)	C382*	probably null	Het
Marveld3	T	C	8: 110,688,609 (GRCm39)	E44G	possibly damaging	Het
Mettl17	T	C	14: 52,128,848 (GRCm39)	F373L	possibly damaging	Het
Morc3	T	A	16: 93,657,398 (GRCm39)	L374Q	probably damaging	Het
Muc16	C	T	9: 18,548,594 (GRCm39)	D5900N	probably benign	Het
Myo15a	A	G	11: 60,368,088 (GRCm39)	N283D	probably benign	Het
Ncapg2	T	G	12: 116,379,098 (GRCm39)	D197E	possibly damaging	Het
Nipbl	T	C	15: 8,332,904 (GRCm39)	T2240A	probably benign	Het
Nrip1	A	C	16: 76,088,236 (GRCm39)	V1107G	possibly damaging	Het
Or13a19	T	C	7: 139,902,647 (GRCm39)	F12L	probably damaging	Het
Or4d5	G	A	9: 40,012,636 (GRCm39)	T50I	probably benign	Het
Or4f52	C	A	2: 111,061,834 (GRCm39)	M101I	probably benign	Het
Pcdhb11	T	A	18: 37,555,549 (GRCm39)	I293K	probably damaging	Het
Pcsk5	G	T	19: 17,432,138 (GRCm39)	H1492Q	probably benign	Het
Pdcd4	T	A	19: 53,899,405 (GRCm39)	Y131*	probably null	Het
Pdf	T	A	8: 107,773,796 (GRCm39)	M216L	probably damaging	Het
Pira13	A	T	7: 3,828,188 (GRCm39)	S40T		Het
Plch1	T	C	3: 63,778,106 (GRCm39)	H17R	possibly damaging	Het
Prkdc	T	G	16: 15,626,068 (GRCm39)	S3365A	probably benign	Het
Rab3c	T	C	13: 110,397,135 (GRCm39)	T44A	probably damaging	Het
Rad17	T	C	13: 100,765,998 (GRCm39)	T377A	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf215	T	G	11: 4,085,959 (GRCm39)		probably null	Het
Sec31b	G	A	19: 44,507,620 (GRCm39)	T808I	probably benign	Het
Selenbp1	A	T	3: 94,844,601 (GRCm39)	D86V	probably damaging	Het
Smurf2	G	T	11: 106,743,322 (GRCm39)	Y241*	probably null	Het
Spint1	T	C	2: 119,079,286 (GRCm39)	V456A	possibly damaging	Het
Spmap2	G	T	10: 79,419,581 (GRCm39)	N240K	possibly damaging	Het
Stx5a	A	T	19: 8,725,924 (GRCm39)	I175F	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tfb1m	T	C	17: 3,569,927 (GRCm39)	E313G	probably benign	Het
Thrb	A	G	14: 17,963,082 (GRCm38)	D15G	probably benign	Het
Tln2	T	C	9: 67,165,555 (GRCm39)	K1045R	probably damaging	Het
Tmx2	T	C	2: 84,505,745 (GRCm39)		probably benign	Het
Trabd	T	C	15: 88,969,152 (GRCm39)	I192T	probably damaging	Het
Try5	T	A	6: 41,288,637 (GRCm39)	D194V	probably damaging	Het
Ttc21a	A	G	9: 119,796,371 (GRCm39)	N1263S	probably benign	Het
Ttll13	T	C	7: 79,902,923 (GRCm39)	I197T	probably damaging	Het
Virma	T	C	4: 11,540,643 (GRCm39)		probably null	Het

Other mutations in Dync1h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01291:Dync1h1	APN	12	110,615,538 (GRCm39)	missense	probably benign	0.31
IGL01299:Dync1h1	APN	12	110,580,541 (GRCm39)	missense	probably benign	0.04
IGL01321:Dync1h1	APN	12	110,592,041 (GRCm39)	splice site	probably benign
IGL01324:Dync1h1	APN	12	110,593,299 (GRCm39)	missense	probably damaging	0.99
IGL01327:Dync1h1	APN	12	110,583,126 (GRCm39)	splice site	probably benign
IGL01371:Dync1h1	APN	12	110,605,285 (GRCm39)	missense	probably benign	0.05
IGL01598:Dync1h1	APN	12	110,624,562 (GRCm39)	missense	probably damaging	0.99
IGL01782:Dync1h1	APN	12	110,581,374 (GRCm39)	missense	probably damaging	1.00
IGL01791:Dync1h1	APN	12	110,625,364 (GRCm39)	missense	probably damaging	0.99
IGL01797:Dync1h1	APN	12	110,618,630 (GRCm39)	critical splice donor site	probably null
IGL02040:Dync1h1	APN	12	110,603,558 (GRCm39)	missense	probably benign	0.21
IGL02096:Dync1h1	APN	12	110,599,254 (GRCm39)	missense	possibly damaging	0.68
IGL02164:Dync1h1	APN	12	110,628,993 (GRCm39)	missense	probably damaging	1.00
IGL02216:Dync1h1	APN	12	110,629,436 (GRCm39)	missense	probably damaging	0.98
IGL02298:Dync1h1	APN	12	110,607,322 (GRCm39)	missense	probably damaging	1.00
IGL02422:Dync1h1	APN	12	110,606,644 (GRCm39)	missense	possibly damaging	0.68
IGL02610:Dync1h1	APN	12	110,625,666 (GRCm39)	nonsense	probably null
IGL02643:Dync1h1	APN	12	110,625,706 (GRCm39)	unclassified	probably benign
IGL03076:Dync1h1	APN	12	110,624,327 (GRCm39)	missense	probably damaging	1.00
IGL03292:Dync1h1	APN	12	110,632,989 (GRCm39)	splice site	probably null
IGL03293:Dync1h1	APN	12	110,595,168 (GRCm39)	missense	probably benign	0.12
IGL03299:Dync1h1	APN	12	110,585,644 (GRCm39)	missense	possibly damaging	0.49
chinashop	UTSW	12	110,624,568 (GRCm39)	missense	probably damaging	1.00
Gesund	UTSW	12	110,582,838 (GRCm39)	missense	probably benign	0.35
gymnast	UTSW	12	110,584,802 (GRCm39)	missense	probably damaging	1.00
Lightfoot	UTSW	12	110,584,354 (GRCm39)	missense	probably damaging	1.00
Lissom	UTSW	12	110,599,254 (GRCm39)	missense	possibly damaging	0.68
Strong	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
waters	UTSW	12	110,596,113 (GRCm39)	missense	probably damaging	1.00
ANU05:Dync1h1	UTSW	12	110,615,538 (GRCm39)	missense	probably benign	0.31
H8562:Dync1h1	UTSW	12	110,583,241 (GRCm39)	missense	probably benign	0.01
R0082:Dync1h1	UTSW	12	110,602,880 (GRCm39)	missense	probably benign
R0110:Dync1h1	UTSW	12	110,606,378 (GRCm39)	missense	probably benign	0.42
R0130:Dync1h1	UTSW	12	110,585,108 (GRCm39)	missense	probably benign	0.16
R0233:Dync1h1	UTSW	12	110,607,414 (GRCm39)	missense	probably benign	0.45
R0233:Dync1h1	UTSW	12	110,607,414 (GRCm39)	missense	probably benign	0.45
R0242:Dync1h1	UTSW	12	110,616,285 (GRCm39)	missense	possibly damaging	0.67
R0242:Dync1h1	UTSW	12	110,616,285 (GRCm39)	missense	possibly damaging	0.67
R0408:Dync1h1	UTSW	12	110,598,126 (GRCm39)	missense	probably benign
R0450:Dync1h1	UTSW	12	110,606,378 (GRCm39)	missense	probably benign	0.42
R0611:Dync1h1	UTSW	12	110,599,222 (GRCm39)	missense	probably damaging	0.97
R0612:Dync1h1	UTSW	12	110,582,930 (GRCm39)	missense	probably damaging	1.00
R0624:Dync1h1	UTSW	12	110,618,181 (GRCm39)	unclassified	probably benign
R0685:Dync1h1	UTSW	12	110,623,626 (GRCm39)	missense	probably damaging	1.00
R0747:Dync1h1	UTSW	12	110,595,718 (GRCm39)	missense	probably damaging	0.99
R0747:Dync1h1	UTSW	12	110,578,845 (GRCm39)	missense	probably benign
R0843:Dync1h1	UTSW	12	110,631,647 (GRCm39)	missense	possibly damaging	0.81
R0970:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1161:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1211:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1214:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1215:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1227:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1230:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1232:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1237:Dync1h1	UTSW	12	110,632,393 (GRCm39)	missense	probably benign	0.00
R1274:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1275:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1289:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1290:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1331:Dync1h1	UTSW	12	110,615,698 (GRCm39)	missense	probably damaging	0.98
R1340:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1383:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1394:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1396:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1397:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1413:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1432:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1500:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1661:Dync1h1	UTSW	12	110,622,791 (GRCm39)	missense	probably damaging	1.00
R1678:Dync1h1	UTSW	12	110,632,096 (GRCm39)	critical splice acceptor site	probably null
R1698:Dync1h1	UTSW	12	110,593,426 (GRCm39)	missense	possibly damaging	0.88
R1767:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1776:Dync1h1	UTSW	12	110,599,362 (GRCm39)	splice site	probably benign
R1812:Dync1h1	UTSW	12	110,629,334 (GRCm39)	missense	possibly damaging	0.46
R1831:Dync1h1	UTSW	12	110,580,493 (GRCm39)	missense	probably damaging	1.00
R1832:Dync1h1	UTSW	12	110,580,493 (GRCm39)	missense	probably damaging	1.00
R1856:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1857:Dync1h1	UTSW	12	110,629,059 (GRCm39)	missense	probably damaging	0.96
R1879:Dync1h1	UTSW	12	110,591,070 (GRCm39)	missense	probably benign	0.04
R1892:Dync1h1	UTSW	12	110,612,738 (GRCm39)	missense	probably damaging	1.00
R1909:Dync1h1	UTSW	12	110,629,063 (GRCm39)	missense	probably damaging	1.00
R1962:Dync1h1	UTSW	12	110,602,943 (GRCm39)	missense	probably benign	0.04
R1974:Dync1h1	UTSW	12	110,592,166 (GRCm39)	missense	possibly damaging	0.80
R1999:Dync1h1	UTSW	12	110,632,857 (GRCm39)	critical splice donor site	probably null
R2073:Dync1h1	UTSW	12	110,581,026 (GRCm39)	missense	probably damaging	1.00
R2091:Dync1h1	UTSW	12	110,616,022 (GRCm39)	missense	probably benign	0.07
R2113:Dync1h1	UTSW	12	110,596,420 (GRCm39)	missense	probably damaging	1.00
R2128:Dync1h1	UTSW	12	110,607,316 (GRCm39)	missense	probably damaging	1.00
R2134:Dync1h1	UTSW	12	110,623,065 (GRCm39)	missense	possibly damaging	0.68
R2496:Dync1h1	UTSW	12	110,607,654 (GRCm39)	missense	possibly damaging	0.65
R2680:Dync1h1	UTSW	12	110,609,681 (GRCm39)	missense	probably damaging	1.00
R2890:Dync1h1	UTSW	12	110,583,325 (GRCm39)	missense	probably damaging	1.00
R2964:Dync1h1	UTSW	12	110,607,460 (GRCm39)	critical splice donor site	probably null
R3705:Dync1h1	UTSW	12	110,607,020 (GRCm39)	missense	possibly damaging	0.80
R3708:Dync1h1	UTSW	12	110,609,563 (GRCm39)	missense	probably damaging	0.96
R3735:Dync1h1	UTSW	12	110,598,109 (GRCm39)	missense	probably benign
R3736:Dync1h1	UTSW	12	110,598,109 (GRCm39)	missense	probably benign
R3882:Dync1h1	UTSW	12	110,595,492 (GRCm39)	missense	probably benign	0.41
R3971:Dync1h1	UTSW	12	110,632,399 (GRCm39)	missense	probably benign	0.00
R4017:Dync1h1	UTSW	12	110,609,624 (GRCm39)	missense	probably damaging	1.00
R4032:Dync1h1	UTSW	12	110,584,483 (GRCm39)	nonsense	probably null
R4355:Dync1h1	UTSW	12	110,599,333 (GRCm39)	missense	possibly damaging	0.55
R4514:Dync1h1	UTSW	12	110,623,573 (GRCm39)	missense	possibly damaging	0.76
R4586:Dync1h1	UTSW	12	110,615,917 (GRCm39)	missense	probably benign	0.30
R4619:Dync1h1	UTSW	12	110,605,278 (GRCm39)	missense	probably benign	0.09
R4659:Dync1h1	UTSW	12	110,595,201 (GRCm39)	missense	possibly damaging	0.50
R4676:Dync1h1	UTSW	12	110,628,975 (GRCm39)	missense	probably damaging	0.99
R4688:Dync1h1	UTSW	12	110,621,962 (GRCm39)	missense	probably damaging	0.99
R4732:Dync1h1	UTSW	12	110,615,941 (GRCm39)	nonsense	probably null
R4733:Dync1h1	UTSW	12	110,615,941 (GRCm39)	nonsense	probably null
R4780:Dync1h1	UTSW	12	110,627,630 (GRCm39)	missense	probably damaging	1.00
R4846:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R4861:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R4861:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R4865:Dync1h1	UTSW	12	110,606,235 (GRCm39)	missense	possibly damaging	0.84
R4872:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R4873:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R4874:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R4875:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R4927:Dync1h1	UTSW	12	110,629,289 (GRCm39)	missense	possibly damaging	0.82
R4949:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R4954:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R4956:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R4957:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R4958:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R4984:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R4985:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R4988:Dync1h1	UTSW	12	110,624,560 (GRCm39)	missense	probably damaging	1.00
R5029:Dync1h1	UTSW	12	110,584,444 (GRCm39)	missense	possibly damaging	0.46
R5032:Dync1h1	UTSW	12	110,593,326 (GRCm39)	nonsense	probably null
R5036:Dync1h1	UTSW	12	110,596,969 (GRCm39)	missense	probably damaging	1.00
R5037:Dync1h1	UTSW	12	110,607,341 (GRCm39)	missense	probably benign	0.09
R5105:Dync1h1	UTSW	12	110,584,366 (GRCm39)	missense	probably damaging	0.99
R5122:Dync1h1	UTSW	12	110,596,114 (GRCm39)	missense	probably damaging	1.00
R5156:Dync1h1	UTSW	12	110,595,264 (GRCm39)	missense	probably benign	0.00
R5290:Dync1h1	UTSW	12	110,581,502 (GRCm39)	missense	probably benign	0.03
R5453:Dync1h1	UTSW	12	110,599,099 (GRCm39)	missense	probably benign	0.12
R5540:Dync1h1	UTSW	12	110,627,384 (GRCm39)	missense	probably benign	0.00
R5613:Dync1h1	UTSW	12	110,599,254 (GRCm39)	missense	possibly damaging	0.68
R5626:Dync1h1	UTSW	12	110,607,575 (GRCm39)	missense	probably benign	0.01
R5652:Dync1h1	UTSW	12	110,632,422 (GRCm39)	missense	possibly damaging	0.70
R5655:Dync1h1	UTSW	12	110,595,496 (GRCm39)	missense	probably benign	0.03
R5686:Dync1h1	UTSW	12	110,582,838 (GRCm39)	missense	probably benign	0.35
R5772:Dync1h1	UTSW	12	110,612,707 (GRCm39)	nonsense	probably null
R5806:Dync1h1	UTSW	12	110,618,087 (GRCm39)	missense	probably damaging	1.00
R5891:Dync1h1	UTSW	12	110,580,654 (GRCm39)	critical splice donor site	probably null
R5921:Dync1h1	UTSW	12	110,584,802 (GRCm39)	missense	probably damaging	1.00
R5965:Dync1h1	UTSW	12	110,599,212 (GRCm39)	missense	probably benign
R6113:Dync1h1	UTSW	12	110,586,848 (GRCm39)	missense	probably benign
R6119:Dync1h1	UTSW	12	110,594,440 (GRCm39)	missense	possibly damaging	0.82
R6154:Dync1h1	UTSW	12	110,584,427 (GRCm39)	missense	probably damaging	1.00
R6339:Dync1h1	UTSW	12	110,612,639 (GRCm39)	missense	probably damaging	0.97
R6522:Dync1h1	UTSW	12	110,583,171 (GRCm39)	missense	probably damaging	0.99
R6531:Dync1h1	UTSW	12	110,584,354 (GRCm39)	missense	probably damaging	1.00
R6554:Dync1h1	UTSW	12	110,616,282 (GRCm39)	missense	probably benign	0.06
R6672:Dync1h1	UTSW	12	110,624,568 (GRCm39)	missense	probably damaging	1.00
R6746:Dync1h1	UTSW	12	110,618,087 (GRCm39)	missense	probably damaging	1.00
R6785:Dync1h1	UTSW	12	110,596,113 (GRCm39)	missense	probably damaging	1.00
R6857:Dync1h1	UTSW	12	110,624,981 (GRCm39)	missense	possibly damaging	0.94
R6863:Dync1h1	UTSW	12	110,618,614 (GRCm39)	missense	probably benign	0.07
R6881:Dync1h1	UTSW	12	110,590,995 (GRCm39)	missense	probably damaging	1.00
R6892:Dync1h1	UTSW	12	110,605,335 (GRCm39)	missense	probably benign	0.00
R7015:Dync1h1	UTSW	12	110,632,521 (GRCm39)	nonsense	probably null
R7096:Dync1h1	UTSW	12	110,623,512 (GRCm39)	missense	probably damaging	0.99
R7173:Dync1h1	UTSW	12	110,568,173 (GRCm39)	missense	probably benign
R7224:Dync1h1	UTSW	12	110,584,196 (GRCm39)	missense	possibly damaging	0.93
R7295:Dync1h1	UTSW	12	110,631,183 (GRCm39)	critical splice donor site	probably null
R7308:Dync1h1	UTSW	12	110,631,596 (GRCm39)	missense	possibly damaging	0.91
R7346:Dync1h1	UTSW	12	110,602,076 (GRCm39)	missense	probably damaging	1.00
R7359:Dync1h1	UTSW	12	110,591,036 (GRCm39)	missense	probably benign	0.00
R7405:Dync1h1	UTSW	12	110,600,654 (GRCm39)	missense	probably damaging	1.00
R7439:Dync1h1	UTSW	12	110,602,887 (GRCm39)	missense	probably damaging	1.00
R7441:Dync1h1	UTSW	12	110,602,887 (GRCm39)	missense	probably damaging	1.00
R7472:Dync1h1	UTSW	12	110,632,109 (GRCm39)	missense	probably damaging	0.99
R7532:Dync1h1	UTSW	12	110,618,011 (GRCm39)	missense	probably benign	0.00
R7543:Dync1h1	UTSW	12	110,580,541 (GRCm39)	missense	probably benign	0.04
R7555:Dync1h1	UTSW	12	110,597,059 (GRCm39)	missense	probably benign	0.03
R7632:Dync1h1	UTSW	12	110,627,327 (GRCm39)	missense	probably benign	0.10
R7701:Dync1h1	UTSW	12	110,585,080 (GRCm39)	missense	probably damaging	1.00
R7704:Dync1h1	UTSW	12	110,632,200 (GRCm39)	missense	probably damaging	1.00
R7808:Dync1h1	UTSW	12	110,621,893 (GRCm39)	missense	possibly damaging	0.53
R7891:Dync1h1	UTSW	12	110,609,590 (GRCm39)	missense	probably benign	0.02
R7895:Dync1h1	UTSW	12	110,582,891 (GRCm39)	missense	probably damaging	1.00
R7913:Dync1h1	UTSW	12	110,595,168 (GRCm39)	missense	probably benign	0.12
R8164:Dync1h1	UTSW	12	110,582,794 (GRCm39)	missense	possibly damaging	0.91
R8257:Dync1h1	UTSW	12	110,602,908 (GRCm39)	missense	probably damaging	1.00
R8346:Dync1h1	UTSW	12	110,632,226 (GRCm39)	missense	probably benign	0.21
R8432:Dync1h1	UTSW	12	110,584,576 (GRCm39)	missense	probably benign	0.00
R8510:Dync1h1	UTSW	12	110,583,177 (GRCm39)	missense	possibly damaging	0.94
R8731:Dync1h1	UTSW	12	110,607,018 (GRCm39)	missense	possibly damaging	0.93
R8756:Dync1h1	UTSW	12	110,583,261 (GRCm39)	missense	probably benign	0.06
R8855:Dync1h1	UTSW	12	110,602,333 (GRCm39)	missense	probably damaging	1.00
R8866:Dync1h1	UTSW	12	110,602,333 (GRCm39)	missense	probably damaging	1.00
R8885:Dync1h1	UTSW	12	110,583,172 (GRCm39)	missense	probably damaging	1.00
R8893:Dync1h1	UTSW	12	110,608,477 (GRCm39)	missense	probably damaging	1.00
R8913:Dync1h1	UTSW	12	110,624,602 (GRCm39)	missense	probably benign	0.14
R8937:Dync1h1	UTSW	12	110,584,471 (GRCm39)	missense	probably damaging	1.00
R8958:Dync1h1	UTSW	12	110,586,805 (GRCm39)	missense	probably benign	0.00
R9000:Dync1h1	UTSW	12	110,606,397 (GRCm39)	missense	probably benign
R9036:Dync1h1	UTSW	12	110,606,186 (GRCm39)	missense	probably benign
R9090:Dync1h1	UTSW	12	110,583,310 (GRCm39)	missense	probably benign	0.06
R9108:Dync1h1	UTSW	12	110,622,706 (GRCm39)	intron	probably benign
R9161:Dync1h1	UTSW	12	110,625,023 (GRCm39)	missense	probably benign	0.01
R9185:Dync1h1	UTSW	12	110,601,937 (GRCm39)	missense	probably benign	0.33
R9271:Dync1h1	UTSW	12	110,583,310 (GRCm39)	missense	probably benign	0.06
R9436:Dync1h1	UTSW	12	110,582,975 (GRCm39)	missense	probably damaging	1.00
R9478:Dync1h1	UTSW	12	110,625,137 (GRCm39)	missense	probably benign	0.02
R9547:Dync1h1	UTSW	12	110,624,805 (GRCm39)	missense	probably damaging	1.00
R9561:Dync1h1	UTSW	12	110,615,533 (GRCm39)	missense	probably damaging	0.99
R9586:Dync1h1	UTSW	12	110,582,975 (GRCm39)	missense	probably damaging	1.00
R9609:Dync1h1	UTSW	12	110,607,362 (GRCm39)	missense	probably benign	0.01
Z1088:Dync1h1	UTSW	12	110,596,351 (GRCm39)	frame shift	probably null
Z1177:Dync1h1	UTSW	12	110,624,951 (GRCm39)	nonsense	probably null
Z1177:Dync1h1	UTSW	12	110,607,611 (GRCm39)	frame shift	probably null
Z1177:Dync1h1	UTSW	12	110,603,988 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAGCTTGAAATGGGACTCC -3'
(R):5'- ACGTGTTCTCTCAGTTTGCAG -3'

Sequencing Primer
(F):5'- GCTTGAAATGGGACTCCTCCAC -3'
(R):5'- GCAGTATACTGACTACTCTGCTCAG -3'

Posted On

2021-03-08