Mutagenetix > Incidental Mutation

Incidental Mutation 'R2060:Dync2h1'

228620

Institutional Source

Beutler Lab

Gene Symbol

Dync2h1

Ensembl Gene

ENSMUSG00000047193

Gene Name

dynein cytoplasmic 2 heavy chain 1

Synonyms

4432416O06Rik, DHC2, D030010H02Rik, D330044F14Rik, Dnchc2, DHC1b, b2b414Clo

MMRRC Submission

040065-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2060 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6928503-7184446 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 7162802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 596 (I596L)

Ref Sequence

ENSEMBL: ENSMUSP00000120322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048417] [ENSMUST00000139115] [ENSMUST00000140466] [ENSMUST00000147193]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048417
AA Change: I596L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000046733
Gene: ENSMUSG00000047193
AA Change: I596L

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	187	676	1.6e-43	PFAM
Pfam:DHC_N2	1117	1523	4.1e-120	PFAM
AAA	1684	1830	3.72e-2	SMART
AAA	1971	2127	2.18e0	SMART
AAA	2283	2431	1.66e0	SMART
low complexity region	2588	2602	N/A	INTRINSIC
Pfam:AAA_8	2618	2881	6.8e-27	PFAM
Pfam:MT	2894	3230	5.4e-28	PFAM
Pfam:AAA_9	3242	3471	1.1e-50	PFAM
Pfam:Dynein_heavy	3605	4304	2.3e-136	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139115
AA Change: I596L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120322
Gene: ENSMUSG00000047193
AA Change: I596L

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	188	676	3.2e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140466
AA Change: I596L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120007
Gene: ENSMUSG00000047193
AA Change: I596L

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	187	676	1.6e-43	PFAM
Pfam:DHC_N2	1117	1523	4.1e-120	PFAM
AAA	1684	1830	3.72e-2	SMART
AAA	1971	2127	2.18e0	SMART
AAA	2283	2431	1.66e0	SMART
low complexity region	2588	2602	N/A	INTRINSIC
Pfam:AAA_8	2618	2881	6.8e-27	PFAM
Pfam:MT	2894	3230	5.4e-28	PFAM
Pfam:AAA_9	3242	3471	1.1e-50	PFAM
Pfam:Dynein_heavy	3605	4304	2.3e-136	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147056

Predicted Effect

probably benign
Transcript: ENSMUST00000147193
AA Change: I596L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000116679
Gene: ENSMUSG00000047193
AA Change: I596L

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	188	674	4e-45	PFAM
Pfam:DHC_N2	1118	1521	5.5e-111	PFAM
AAA	1684	1830	3.72e-2	SMART
AAA	1971	2127	2.18e0	SMART
AAA	2283	2431	1.66e0	SMART
low complexity region	2588	2602	N/A	INTRINSIC
Pfam:AAA_8	2618	2880	4.4e-27	PFAM
Pfam:MT	2894	3230	1.3e-27	PFAM
Pfam:AAA_9	3246	3477	1e-79	PFAM
Pfam:Dynein_heavy	3618	4310	8.5e-158	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, micrognathia, and cardiac, renal, airway and eye defects may be observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8430408G22Rik	G	A	6: 116,651,722	V9M	possibly damaging	Het
Abca14	G	A	7: 120,227,518	W462*	probably null	Het
Aftph	A	T	11: 20,692,571	Y821N	probably damaging	Het
Ahnak	A	T	19: 9,008,041	M2230L	probably benign	Het
Arfgap1	T	C	2: 180,972,782	F144L	probably benign	Het
Arid4b	C	T	13: 14,195,452	R1178C	probably damaging	Het
Asb8	A	T	15: 98,141,373	C49S	possibly damaging	Het
Baz1b	A	G	5: 135,205,114	N165S	probably damaging	Het
BC017158	A	G	7: 128,288,331	L176P	probably damaging	Het
Bod1l	A	T	5: 41,808,742	I2660N	possibly damaging	Het
C2cd3	T	C	7: 100,454,948	I825T	probably damaging	Het
C4b	A	G	17: 34,736,101	W804R	probably damaging	Het
Cadm3	A	T	1: 173,344,402	D201E	probably damaging	Het
Cdh17	T	C	4: 11,803,982	F552L	probably benign	Het
Cdh7	G	C	1: 110,048,877	A91P	probably damaging	Het
Cela1	A	G	15: 100,675,322		probably null	Het
Clk3	T	C	9: 57,751,117	Y582C	probably damaging	Het
Cma1	C	T	14: 55,943,698		probably null	Het
Ctcfl	A	G	2: 173,118,506	S95P	probably benign	Het
Cylc1	C	A	X: 111,123,123	T391K	unknown	Het
Cyp3a11	T	A	5: 145,855,081	I501L	probably benign	Het
Cyp3a59	T	A	5: 146,104,714	L356Q	probably damaging	Het
Dcdc2a	A	C	13: 25,107,710	D226A	possibly damaging	Het
Dlec1	A	C	9: 119,112,086	T235P	probably damaging	Het
Dnaaf1	G	A	8: 119,590,602	R290Q	probably benign	Het
Dnaaf5	C	T	5: 139,178,003	R377W	probably damaging	Het
Dpep1	T	A	8: 123,200,391	V293E	probably damaging	Het
Drosha	T	A	15: 12,924,159	V1209E	possibly damaging	Het
Edem1	T	A	6: 108,854,287	Y570N	probably damaging	Het
Edrf1	G	T	7: 133,657,129	E9*	probably null	Het
Enpep	T	A	3: 129,280,523	N792Y	probably benign	Het
Enpp2	A	T	15: 54,875,714	M391K	probably damaging	Het
Fanca	A	C	8: 123,274,481	V1105G	probably damaging	Het
Fbxo22	T	A	9: 55,218,383	L74I	probably damaging	Het
Fchsd2	T	A	7: 101,277,417	F571L	probably benign	Het
Fhad1	T	C	4: 141,899,249	D1345G	probably benign	Het
G2e3	T	C	12: 51,372,606	F702L	probably damaging	Het
Glce	A	T	9: 62,060,946	S308T	possibly damaging	Het
Glt1d1	A	G	5: 127,657,119	D119G	probably benign	Het
Gpr137c	T	C	14: 45,244,159	I144T	probably damaging	Het
Gprin3	A	G	6: 59,354,519	C268R	possibly damaging	Het
Hadha	G	A	5: 30,128,836	T395M	probably benign	Het
Hdhd2	T	G	18: 76,965,042		probably null	Het
Homer2	C	T	7: 81,618,703	E70K	probably benign	Het
Hp1bp3	T	A	4: 138,240,672	D397E	probably damaging	Het
Hrh3	T	C	2: 180,101,250	N195S	possibly damaging	Het
Hyou1	T	C	9: 44,381,552	V153A	probably benign	Het
Igf2r	A	T	17: 12,701,319	S1378T	possibly damaging	Het
Ints4	G	A	7: 97,501,763	R279H	possibly damaging	Het
Itga10	A	T	3: 96,654,998	R699*	probably null	Het
Itpkb	A	G	1: 180,421,858	T933A	probably benign	Het
Itsn2	T	G	12: 4,627,879	F79V	probably damaging	Het
Jak3	C	A	8: 71,680,714	C350*	probably null	Het
Jak3	A	T	8: 71,683,415	K620*	probably null	Het
Kcnq5	T	C	1: 21,461,597	S421G	probably benign	Het
Kdm2b	A	T	5: 122,883,365	M50K	probably damaging	Het
Klk1b1	A	G	7: 43,970,623	D170G	possibly damaging	Het
Lama3	A	T	18: 12,528,726	T2160S	probably benign	Het
Lman1	A	T	18: 65,998,352		probably benign	Het
Lmtk3	G	A	7: 45,800,911		probably null	Het
Ltb	A	G	17: 35,195,763	R180G	probably damaging	Het
Ltbp4	C	T	7: 27,308,953	R1310Q	probably damaging	Het
Macf1	T	A	4: 123,499,919		probably null	Het
Mast4	G	T	13: 102,738,846	P1146Q	probably damaging	Het
Micall2	C	T	5: 139,711,562	S678N	probably damaging	Het
Mon2	A	T	10: 122,995,776	I1675N	probably damaging	Het
Mug2	A	G	6: 122,079,612	N1172S	probably benign	Het
Naa30	C	G	14: 49,173,099	S161R	possibly damaging	Het
Ncaph	T	C	2: 127,124,875	N220D	probably damaging	Het
Nell1	T	C	7: 50,560,830	V497A	possibly damaging	Het
Ngly1	A	G	14: 16,277,877	N142S	possibly damaging	Het
Nin	T	A	12: 70,042,418	T1408S	possibly damaging	Het
Nlrp4g	T	A	9: 124,349,693		noncoding transcript	Het
Nrg1	T	G	8: 31,918,015	E63D	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1167	T	C	2: 88,149,143	Y292C	probably damaging	Het
Olfr128	A	G	17: 37,923,880	T105A	probably benign	Het
Olfr473	C	T	7: 107,933,661	T47M	probably benign	Het
Olfr522	T	A	7: 140,162,824	E42V	probably damaging	Het
Olfr845	A	G	9: 19,339,056	I199V	probably benign	Het
Olfr851	T	A	9: 19,497,237	V163E	possibly damaging	Het
Olfr867	A	T	9: 20,054,596	I289N	probably damaging	Het
Olfr998	G	A	2: 85,591,283	V248I	possibly damaging	Het
Orc5	C	T	5: 22,516,703		probably null	Het
Pard3	G	A	8: 127,398,604	R691Q	probably benign	Het
Pofut1	T	A	2: 153,243,660	D54E	probably benign	Het
Prl2c5	T	A	13: 13,190,653	V128E	probably damaging	Het
Ptk7	T	C	17: 46,566,238	M965V	possibly damaging	Het
Pum2	C	T	12: 8,728,726	R459*	probably null	Het
Pzp	A	T	6: 128,483,710	N1494K	probably benign	Het
Rad21l	A	G	2: 151,645,429	V545A	probably benign	Het
Rps6kc1	A	T	1: 190,810,108	M352K	possibly damaging	Het
Rpusd2	G	A	2: 119,037,215		probably null	Het
Rsph14	A	T	10: 75,029,771	D78E	probably damaging	Het
Rtl9	A	T	X: 143,102,030	M813L	possibly damaging	Het
Rtp4	A	T	16: 23,612,940	H74L	probably damaging	Het
Rusc1	G	A	3: 89,087,848	T725I	possibly damaging	Het
Ryr2	C	T	13: 11,595,736	C4068Y	probably damaging	Het
Ryr3	A	G	2: 112,954,364	V224A	possibly damaging	Het
Shprh	A	T	10: 11,152,120	N157I	probably benign	Het
Siglece	A	G	7: 43,657,786	I67T	probably benign	Het
Slc9b2	A	T	3: 135,326,266	T296S	probably damaging	Het
Sorbs2	A	G	8: 45,775,629	K276E	probably damaging	Het
Synj2	A	G	17: 6,037,480	T1269A	probably benign	Het
Taar7b	T	C	10: 24,000,675	I246T	possibly damaging	Het
Taldo1	A	G	7: 141,396,154	Y113C	probably damaging	Het
Tarbp1	A	T	8: 126,447,594		probably null	Het
Tars	C	T	15: 11,394,373	M59I	probably benign	Het
Tas2r130	G	A	6: 131,630,817	T5I	probably benign	Het
Tex48	T	C	4: 63,607,415	E77G	probably damaging	Het
Tmco5	A	G	2: 116,892,255	R286G	probably damaging	Het
Trdmt1	A	T	2: 13,519,914	H243Q	probably benign	Het
Ttn	T	A	2: 76,734,294	R26754*	probably null	Het
Ttn	G	A	2: 76,897,580		probably benign	Het
Ubqln3	A	C	7: 104,142,151	L244R	probably damaging	Het
Ubxn1	C	T	19: 8,873,566	R115*	probably null	Het
Umod	T	G	7: 119,476,715	N276T	probably damaging	Het
Unc13c	A	T	9: 73,665,656	L1528Q	probably damaging	Het
Unc80	T	A	1: 66,640,595	H2108Q	possibly damaging	Het
Utp20	A	C	10: 88,774,795	D1442E	probably damaging	Het
Utp4	A	G	8: 106,898,521	Q144R	probably benign	Het
Vmn2r17	T	A	5: 109,427,209	N127K	probably benign	Het
Vmn2r75	T	A	7: 86,165,164	T374S	probably benign	Het
Washc5	A	G	15: 59,350,408	F523L	probably damaging	Het
Wdr3	A	T	3: 100,159,897		probably null	Het
Wdr89	T	C	12: 75,632,988	Y164C	probably damaging	Het
Xpo5	T	C	17: 46,225,091	S550P	probably damaging	Het
Zfp69	T	C	4: 120,930,832	T429A	probably damaging	Het
Zfpm1	G	T	8: 122,336,592	G797C	probably benign	Het

Other mutations in Dync2h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Dync2h1	APN	9	7158839	missense	probably benign	0.42
IGL00310:Dync2h1	APN	9	7155072	splice site	probably benign
IGL00499:Dync2h1	APN	9	7168700	missense	possibly damaging	0.95
IGL00579:Dync2h1	APN	9	7035728	splice site	probably benign
IGL00660:Dync2h1	APN	9	7075797	missense	probably damaging	0.98
IGL00964:Dync2h1	APN	9	7174881	splice site	probably benign
IGL01025:Dync2h1	APN	9	7162789	missense	probably damaging	1.00
IGL01093:Dync2h1	APN	9	7145611	missense	probably benign	0.01
IGL01108:Dync2h1	APN	9	7176771	missense	possibly damaging	0.87
IGL01126:Dync2h1	APN	9	7116588	missense	probably benign	0.00
IGL01474:Dync2h1	APN	9	7102493	missense	probably benign	0.01
IGL01531:Dync2h1	APN	9	7071111	missense	probably benign	0.11
IGL01548:Dync2h1	APN	9	7071922	missense	probably damaging	1.00
IGL01621:Dync2h1	APN	9	7140897	critical splice donor site	probably null
IGL01672:Dync2h1	APN	9	7118884	nonsense	probably null
IGL01681:Dync2h1	APN	9	7142196	splice site	probably null
IGL01685:Dync2h1	APN	9	7142297	missense	probably damaging	1.00
IGL01724:Dync2h1	APN	9	7081077	missense	probably benign	0.03
IGL01738:Dync2h1	APN	9	7114922	missense	possibly damaging	0.77
IGL01783:Dync2h1	APN	9	7118822	unclassified	probably benign
IGL01813:Dync2h1	APN	9	7122799	missense	probably damaging	1.00
IGL01931:Dync2h1	APN	9	7114973	missense	probably damaging	1.00
IGL01931:Dync2h1	APN	9	7011207	missense	probably benign	0.33
IGL02105:Dync2h1	APN	9	7075892	missense	probably damaging	1.00
IGL02137:Dync2h1	APN	9	7134349	missense	probably benign
IGL02140:Dync2h1	APN	9	7147791	missense	probably benign
IGL02175:Dync2h1	APN	9	7111548	missense	possibly damaging	0.91
IGL02283:Dync2h1	APN	9	7125912	missense	probably damaging	0.99
IGL02305:Dync2h1	APN	9	7122678	missense	probably benign
IGL02342:Dync2h1	APN	9	7142246	missense	probably damaging	1.00
IGL02367:Dync2h1	APN	9	7158926	missense	probably damaging	0.98
IGL02458:Dync2h1	APN	9	7117422	missense	probably damaging	1.00
IGL02563:Dync2h1	APN	9	7035700	missense	possibly damaging	0.95
IGL02825:Dync2h1	APN	9	6955901	splice site	probably benign
IGL02955:Dync2h1	APN	9	7142864	missense	probably benign	0.00
IGL02992:Dync2h1	APN	9	7137074	missense	probably benign	0.01
IGL02996:Dync2h1	APN	9	6935279	missense	probably damaging	0.99
IGL03224:Dync2h1	APN	9	7076235	missense	probably benign	0.32
IGL03226:Dync2h1	APN	9	7125918	missense	probably benign
IGL03233:Dync2h1	APN	9	7101525	missense	possibly damaging	0.90
deinonychus	UTSW	9	7159478	splice site	probably null
R0016:Dync2h1	UTSW	9	7144346	splice site	probably benign
R0016:Dync2h1	UTSW	9	7144346	splice site	probably benign
R0043:Dync2h1	UTSW	9	7005574	missense	probably benign	0.05
R0109:Dync2h1	UTSW	9	7111487	missense	probably damaging	1.00
R0109:Dync2h1	UTSW	9	7111487	missense	probably damaging	1.00
R0121:Dync2h1	UTSW	9	7001327	splice site	probably benign
R0277:Dync2h1	UTSW	9	7129046	missense	probably benign
R0360:Dync2h1	UTSW	9	7113182	missense	possibly damaging	0.62
R0362:Dync2h1	UTSW	9	7005487	splice site	probably null
R0389:Dync2h1	UTSW	9	7167244	splice site	probably null
R0443:Dync2h1	UTSW	9	7167244	splice site	probably null
R0496:Dync2h1	UTSW	9	7155180	missense	probably benign	0.42
R0506:Dync2h1	UTSW	9	7113153	missense	probably benign	0.05
R0511:Dync2h1	UTSW	9	7122692	missense	probably benign	0.00
R0540:Dync2h1	UTSW	9	7051480	missense	probably benign	0.00
R0550:Dync2h1	UTSW	9	7120954	splice site	probably null
R0564:Dync2h1	UTSW	9	7139432	missense	probably damaging	1.00
R0607:Dync2h1	UTSW	9	7051480	missense	probably benign	0.00
R0699:Dync2h1	UTSW	9	7103680	missense	probably benign	0.00
R0725:Dync2h1	UTSW	9	7015497	missense	possibly damaging	0.93
R0835:Dync2h1	UTSW	9	7116642	critical splice acceptor site	probably null
R0837:Dync2h1	UTSW	9	7077979	missense	probably benign	0.07
R0894:Dync2h1	UTSW	9	7041734	splice site	probably benign
R0938:Dync2h1	UTSW	9	7002658	missense	probably benign	0.02
R1056:Dync2h1	UTSW	9	7147731	missense	probably benign	0.15
R1081:Dync2h1	UTSW	9	7005488	critical splice donor site	probably null
R1178:Dync2h1	UTSW	9	7101193	splice site	probably benign
R1243:Dync2h1	UTSW	9	7120882	missense	probably benign
R1295:Dync2h1	UTSW	9	7075752	splice site	probably benign
R1304:Dync2h1	UTSW	9	7102318	missense	probably damaging	1.00
R1387:Dync2h1	UTSW	9	7125816	missense	probably benign
R1513:Dync2h1	UTSW	9	7103663	missense	possibly damaging	0.74
R1557:Dync2h1	UTSW	9	7140911	missense	probably damaging	1.00
R1568:Dync2h1	UTSW	9	7157553	missense	probably null	0.02
R1570:Dync2h1	UTSW	9	7176926	missense	probably benign	0.12
R1670:Dync2h1	UTSW	9	6993942	missense	possibly damaging	0.82
R1713:Dync2h1	UTSW	9	7131891	missense	probably benign
R1766:Dync2h1	UTSW	9	7015526	critical splice acceptor site	probably null
R1773:Dync2h1	UTSW	9	7128256	missense	probably damaging	1.00
R1786:Dync2h1	UTSW	9	7081084	missense	probably damaging	1.00
R1848:Dync2h1	UTSW	9	7049166	missense	probably benign	0.01
R1850:Dync2h1	UTSW	9	7001448	missense	probably benign	0.00
R1935:Dync2h1	UTSW	9	7139159	critical splice donor site	probably null
R1936:Dync2h1	UTSW	9	7139159	critical splice donor site	probably null
R1937:Dync2h1	UTSW	9	7139159	critical splice donor site	probably null
R1939:Dync2h1	UTSW	9	7139159	critical splice donor site	probably null
R1940:Dync2h1	UTSW	9	7139159	critical splice donor site	probably null
R1944:Dync2h1	UTSW	9	7001377	missense	probably damaging	1.00
R1976:Dync2h1	UTSW	9	7129045	missense	probably benign
R2012:Dync2h1	UTSW	9	7169589	missense	probably benign	0.00
R2020:Dync2h1	UTSW	9	7122772	missense	probably damaging	0.99
R2020:Dync2h1	UTSW	9	7162925	missense	probably benign	0.25
R2024:Dync2h1	UTSW	9	7129062	missense	probably damaging	0.97
R2038:Dync2h1	UTSW	9	6967226	missense	probably damaging	0.99
R2045:Dync2h1	UTSW	9	7160171	missense	probably damaging	1.00
R2094:Dync2h1	UTSW	9	7148735	missense	probably benign	0.18
R2129:Dync2h1	UTSW	9	7175289	missense	possibly damaging	0.94
R2130:Dync2h1	UTSW	9	7011253	missense	probably damaging	1.00
R2136:Dync2h1	UTSW	9	7122772	missense	probably damaging	0.99
R2164:Dync2h1	UTSW	9	7124797	missense	probably damaging	1.00
R2242:Dync2h1	UTSW	9	7037828	splice site	probably null
R2255:Dync2h1	UTSW	9	6955905	critical splice donor site	probably null
R2357:Dync2h1	UTSW	9	7081053	missense	probably benign	0.03
R2389:Dync2h1	UTSW	9	7122618	missense	possibly damaging	0.82
R2412:Dync2h1	UTSW	9	7144246	missense	probably benign	0.01
R2885:Dync2h1	UTSW	9	7102329	missense	probably damaging	1.00
R2909:Dync2h1	UTSW	9	7049114	missense	probably damaging	1.00
R3434:Dync2h1	UTSW	9	7011236	missense	probably benign
R3719:Dync2h1	UTSW	9	7006882	splice site	probably benign
R3723:Dync2h1	UTSW	9	7041658	missense	probably benign	0.17
R3800:Dync2h1	UTSW	9	7101525	missense	possibly damaging	0.90
R3803:Dync2h1	UTSW	9	6935293	missense	probably benign	0.00
R3936:Dync2h1	UTSW	9	7001482	missense	probably damaging	1.00
R3941:Dync2h1	UTSW	9	7124825	missense	probably benign
R3950:Dync2h1	UTSW	9	7112061	nonsense	probably null
R4004:Dync2h1	UTSW	9	7117404	missense	probably damaging	1.00
R4091:Dync2h1	UTSW	9	7131881	missense	probably benign	0.01
R4233:Dync2h1	UTSW	9	7134360	missense	probably benign	0.02
R4302:Dync2h1	UTSW	9	7077880	missense	probably benign	0.02
R4451:Dync2h1	UTSW	9	6983477	missense	probably benign	0.02
R4512:Dync2h1	UTSW	9	7085009	nonsense	probably null
R4596:Dync2h1	UTSW	9	6992595	missense	probably benign
R4604:Dync2h1	UTSW	9	7140995	missense	probably benign	0.00
R4614:Dync2h1	UTSW	9	7011290	missense	probably benign	0.03
R4667:Dync2h1	UTSW	9	7051411	missense	probably benign	0.00
R4671:Dync2h1	UTSW	9	7169640	missense	possibly damaging	0.82
R4714:Dync2h1	UTSW	9	7118932	missense	possibly damaging	0.86
R4716:Dync2h1	UTSW	9	7142648	critical splice donor site	probably null
R4736:Dync2h1	UTSW	9	7006862	missense	probably benign	0.00
R4807:Dync2h1	UTSW	9	7139422	missense	probably benign	0.31
R4850:Dync2h1	UTSW	9	7134364	missense	probably benign	0.14
R4862:Dync2h1	UTSW	9	7147717	missense	probably benign
R4899:Dync2h1	UTSW	9	7131921	nonsense	probably null
R4971:Dync2h1	UTSW	9	7131949	missense	probably benign
R5040:Dync2h1	UTSW	9	6992625	missense	probably benign	0.09
R5054:Dync2h1	UTSW	9	7085007	missense	possibly damaging	0.63
R5274:Dync2h1	UTSW	9	7116540	missense	probably benign	0.00
R5307:Dync2h1	UTSW	9	7155099	missense	probably damaging	1.00
R5347:Dync2h1	UTSW	9	7129727	missense	probably damaging	1.00
R5372:Dync2h1	UTSW	9	7176962	unclassified	probably benign
R5384:Dync2h1	UTSW	9	7016791	missense	probably damaging	0.99
R5385:Dync2h1	UTSW	9	7016791	missense	probably damaging	0.99
R5394:Dync2h1	UTSW	9	7120899	nonsense	probably null
R5402:Dync2h1	UTSW	9	7114949	missense	probably damaging	1.00
R5446:Dync2h1	UTSW	9	7144217	missense	probably benign
R5538:Dync2h1	UTSW	9	7168630	intron	probably benign
R5551:Dync2h1	UTSW	9	7031718	missense	possibly damaging	0.74
R5619:Dync2h1	UTSW	9	7118885	missense	probably benign	0.02
R5621:Dync2h1	UTSW	9	7120909	missense	possibly damaging	0.86
R5652:Dync2h1	UTSW	9	7116638	missense	probably benign	0.45
R5655:Dync2h1	UTSW	9	7148659	missense	probably benign	0.01
R5689:Dync2h1	UTSW	9	7169689	missense	probably damaging	1.00
R5725:Dync2h1	UTSW	9	7169528	missense	probably benign	0.21
R5742:Dync2h1	UTSW	9	7165762	missense	possibly damaging	0.64
R5817:Dync2h1	UTSW	9	6996905	missense	probably damaging	1.00
R5852:Dync2h1	UTSW	9	7011290	missense	probably benign	0.03
R5898:Dync2h1	UTSW	9	7148717	missense	probably benign	0.00
R5916:Dync2h1	UTSW	9	7102309	critical splice donor site	probably null
R5939:Dync2h1	UTSW	9	7037801	missense	probably damaging	0.99
R5942:Dync2h1	UTSW	9	7117466	nonsense	probably null
R5982:Dync2h1	UTSW	9	6955986	missense	probably benign	0.00
R6029:Dync2h1	UTSW	9	7157646	missense	probably benign
R6125:Dync2h1	UTSW	9	7168706	missense	probably damaging	1.00
R6209:Dync2h1	UTSW	9	7165677	missense	probably benign	0.01
R6247:Dync2h1	UTSW	9	7135078	missense	probably damaging	1.00
R6294:Dync2h1	UTSW	9	7084986	missense	probably benign	0.01
R6328:Dync2h1	UTSW	9	7165717	missense	probably benign	0.00
R6376:Dync2h1	UTSW	9	7165703	missense	probably benign	0.21
R6394:Dync2h1	UTSW	9	7168331	missense	probably damaging	0.99
R6539:Dync2h1	UTSW	9	7159478	splice site	probably null
R6554:Dync2h1	UTSW	9	7037699	missense	probably benign	0.39
R6559:Dync2h1	UTSW	9	7139501	missense	possibly damaging	0.72
R6563:Dync2h1	UTSW	9	7120819	missense	probably benign	0.27
R6807:Dync2h1	UTSW	9	7041718	missense	probably benign	0.10
R6848:Dync2h1	UTSW	9	7159632	missense	probably benign	0.22
R6901:Dync2h1	UTSW	9	7131855	missense	probably damaging	1.00
R6921:Dync2h1	UTSW	9	7102549	missense	probably benign
R6997:Dync2h1	UTSW	9	7168743	missense	probably null	0.00
R7084:Dync2h1	UTSW	9	7113214	missense	possibly damaging	0.72
R7113:Dync2h1	UTSW	9	7075788	missense	probably benign	0.03
R7131:Dync2h1	UTSW	9	7075786	missense	probably damaging	1.00
R7165:Dync2h1	UTSW	9	7050479	missense	probably benign
R7196:Dync2h1	UTSW	9	7147715	nonsense	probably null
R7208:Dync2h1	UTSW	9	7141059	missense	probably damaging	1.00
R7225:Dync2h1	UTSW	9	7142756	missense	probably benign
R7237:Dync2h1	UTSW	9	6993966	missense	probably benign	0.00
R7243:Dync2h1	UTSW	9	7102405	missense	possibly damaging	0.64
R7291:Dync2h1	UTSW	9	6929590	missense	possibly damaging	0.69
R7293:Dync2h1	UTSW	9	7001454	missense	possibly damaging	0.88
R7329:Dync2h1	UTSW	9	7011247	missense	probably benign
R7351:Dync2h1	UTSW	9	7167145	missense	probably damaging	1.00
R7358:Dync2h1	UTSW	9	7159479	critical splice donor site	probably null
R7387:Dync2h1	UTSW	9	7157932	missense	possibly damaging	0.68
R7446:Dync2h1	UTSW	9	7041720	missense	probably benign	0.03
R7487:Dync2h1	UTSW	9	7132041	missense	probably benign	0.26
R7488:Dync2h1	UTSW	9	7124855	missense	probably benign	0.03
R7496:Dync2h1	UTSW	9	7135015	splice site	probably null
R7501:Dync2h1	UTSW	9	7175336	missense	possibly damaging	0.82
R7571:Dync2h1	UTSW	9	7002623	missense	probably damaging	1.00
R7627:Dync2h1	UTSW	9	7101111	missense	probably benign	0.00
R7639:Dync2h1	UTSW	9	7141254	missense	probably damaging	0.97
R7653:Dync2h1	UTSW	9	7117570	missense	probably benign
R7654:Dync2h1	UTSW	9	7122664	missense	probably damaging	1.00
R7742:Dync2h1	UTSW	9	7076232	missense	probably benign	0.00
R7755:Dync2h1	UTSW	9	7015490	missense	probably benign	0.00
R7762:Dync2h1	UTSW	9	7129719	missense	probably benign	0.01
R7790:Dync2h1	UTSW	9	7114914	missense	probably damaging	0.96
R7834:Dync2h1	UTSW	9	7118953	missense	probably benign	0.04
R7883:Dync2h1	UTSW	9	7005566	missense	possibly damaging	0.80
R7952:Dync2h1	UTSW	9	7129802	missense	possibly damaging	0.63
R8111:Dync2h1	UTSW	9	7148688	missense	probably benign	0.03
R8157:Dync2h1	UTSW	9	7001473	missense	possibly damaging	0.47
R8166:Dync2h1	UTSW	9	7129089	nonsense	probably null
R8236:Dync2h1	UTSW	9	7080363	intron	probably benign
R8326:Dync2h1	UTSW	9	7147771	missense	probably benign
R8335:Dync2h1	UTSW	9	7084941	missense	probably benign	0.28
R8347:Dync2h1	UTSW	9	7116578	missense	possibly damaging	0.81
R8372:Dync2h1	UTSW	9	7111514	missense	possibly damaging	0.90
R8421:Dync2h1	UTSW	9	7102477	missense	probably damaging	1.00
R8518:Dync2h1	UTSW	9	7051452	missense	probably benign	0.04
R8556:Dync2h1	UTSW	9	7113198	missense	probably benign	0.32
R8690:Dync2h1	UTSW	9	7075824	missense	probably damaging	1.00
R8713:Dync2h1	UTSW	9	7141008	nonsense	probably null
R8719:Dync2h1	UTSW	9	7041641	missense	probably benign	0.05
R8732:Dync2h1	UTSW	9	7168326	missense	probably damaging	1.00
R8744:Dync2h1	UTSW	9	7011220	nonsense	probably null
R8749:Dync2h1	UTSW	9	7035063	missense	probably benign	0.32
R8795:Dync2h1	UTSW	9	7137087	missense	probably benign	0.00
R8853:Dync2h1	UTSW	9	7117645	missense	possibly damaging	0.94
R8923:Dync2h1	UTSW	9	7168515	missense	probably benign
R8969:Dync2h1	UTSW	9	7130723	missense	probably damaging	1.00
R8988:Dync2h1	UTSW	9	7037727	missense	probably benign	0.00
R8997:Dync2h1	UTSW	9	7129003	missense	probably benign
R9025:Dync2h1	UTSW	9	7139462	nonsense	probably null
R9036:Dync2h1	UTSW	9	7051495	missense	probably damaging	1.00
R9055:Dync2h1	UTSW	9	6996641	intron	probably benign
R9165:Dync2h1	UTSW	9	7114883	missense	probably damaging	0.99
R9172:Dync2h1	UTSW	9	7031771	missense	probably damaging	1.00
R9286:Dync2h1	UTSW	9	6941668	missense	probably benign	0.01
R9312:Dync2h1	UTSW	9	7050413	missense	probably damaging	1.00
R9335:Dync2h1	UTSW	9	7112149	missense	possibly damaging	0.88
R9344:Dync2h1	UTSW	9	7148659	missense	probably benign	0.01
R9351:Dync2h1	UTSW	9	7176911	missense	probably damaging	0.98
R9367:Dync2h1	UTSW	9	7125730	critical splice donor site	probably null
R9613:Dync2h1	UTSW	9	7075769	missense	probably damaging	0.99
R9650:Dync2h1	UTSW	9	7174849	missense	possibly damaging	0.83
R9726:Dync2h1	UTSW	9	7077999	missense	possibly damaging	0.94
R9731:Dync2h1	UTSW	9	7141166	missense	probably benign
X0009:Dync2h1	UTSW	9	7117576	missense	possibly damaging	0.81
Z1176:Dync2h1	UTSW	9	7142361	missense	probably damaging	0.99
Z1176:Dync2h1	UTSW	9	7168730	frame shift	probably null
Z1177:Dync2h1	UTSW	9	7102427	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTCCAGTGCTATGCTTG -3'
(R):5'- GTGTAGCTTAAAAGATTCCTCTCTC -3'

Sequencing Primer
(F):5'- CCAGTGCTATGCTTGTCTGC -3'
(R):5'- AGCTTAAAAGATTCCTCTCTCCTCTC -3'

Posted On

2014-09-17