Mutagenetix > Incidental Mutation

Incidental Mutation 'R0835:Dync2h1'

77832

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

039014-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6928503-7184446 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 7116642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048417] [ENSMUST00000048417] [ENSMUST00000140466] [ENSMUST00000140466] [ENSMUST00000147193] [ENSMUST00000147193] [ENSMUST00000216097] [ENSMUST00000216097]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000048417

SMART Domains

Protein: ENSMUSP00000046733
Gene: ENSMUSG00000047193

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

probably null
Transcript: ENSMUST00000048417

SMART Domains

Protein: ENSMUSP00000046733
Gene: ENSMUSG00000047193

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

probably null
Transcript: ENSMUST00000140466

SMART Domains

Protein: ENSMUSP00000120007
Gene: ENSMUSG00000047193

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

probably null
Transcript: ENSMUST00000140466

SMART Domains

Protein: ENSMUSP00000120007
Gene: ENSMUSG00000047193

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

probably null
Transcript: ENSMUST00000147193

SMART Domains

Protein: ENSMUSP00000116679
Gene: ENSMUSG00000047193

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

Predicted Effect

probably null
Transcript: ENSMUST00000147193

SMART Domains

Protein: ENSMUSP00000116679
Gene: ENSMUSG00000047193

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

Predicted Effect

probably benign
Transcript: ENSMUST00000214191

Predicted Effect

probably null
Transcript: ENSMUST00000216097

Predicted Effect

probably null
Transcript: ENSMUST00000216097

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.2%
20x: 90.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	G	T	6: 146,953,538		probably benign	Het
Abca16	A	G	7: 120,465,784	T555A	probably benign	Het
Abca4	A	T	3: 122,126,213	D1048V	probably damaging	Het
Abcf2	G	T	5: 24,574,253	T99N	probably damaging	Het
Acan	A	T	7: 79,114,232	S2119C	probably damaging	Het
Adgre4	G	A	17: 55,799,637	C292Y	probably damaging	Het
Alk	A	G	17: 71,869,842	F1489S	probably damaging	Het
Ampd2	A	G	3: 108,076,502	V573A	possibly damaging	Het
Aoc1	T	C	6: 48,905,514	F130S	probably damaging	Het
Bbs2	A	T	8: 94,075,259	I554N	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cbfa2t3	T	C	8: 122,647,778	H76R	probably benign	Het
Cdc14a	G	T	3: 116,328,522	N216K	probably benign	Het
Cep126	T	C	9: 8,130,223	Y69C	probably damaging	Het
Cep135	A	T	5: 76,615,706	R514S	probably benign	Het
Cfi	A	T	3: 129,868,542	Y390F	probably damaging	Het
Chd8	T	C	14: 52,204,025	D870G	probably benign	Het
Clptm1	A	G	7: 19,635,674	V437A	possibly damaging	Het
Coro2b	T	C	9: 62,425,837	N422S	possibly damaging	Het
Coro7	T	C	16: 4,632,254	E577G	probably benign	Het
Crh	G	A	3: 19,694,364	P38L	probably benign	Het
Ctif	T	A	18: 75,435,336	D577V	probably damaging	Het
Deup1	T	A	9: 15,599,751	Q244L	probably damaging	Het
Dhx16	A	G	17: 35,881,689	E171G	probably damaging	Het
Dnah11	A	C	12: 117,916,788	Y3866D	probably damaging	Het
Dync1i2	C	T	2: 71,250,972	L508F	probably damaging	Het
E2f4	C	T	8: 105,300,508	Q235*	probably null	Het
Eif2b3	A	G	4: 117,058,805	H203R	probably damaging	Het
Epha5	A	T	5: 84,386,242	W77R	probably damaging	Het
Gpx6	C	T	13: 21,317,068	P109S	probably damaging	Het
Gsdmc4	A	T	15: 63,893,800	V300E	probably damaging	Het
Gspt1	A	C	16: 11,238,938	S198A	probably benign	Het
Itpk1	C	T	12: 102,675,448	V39M	probably damaging	Het
Kremen2	G	T	17: 23,742,837	P232Q	probably damaging	Het
Lamtor4	C	A	5: 138,259,058	T74K	probably benign	Het
Mbtd1	T	A	11: 93,931,839	F492I	probably benign	Het
Mroh1	G	T	15: 76,451,883	V1486F	probably damaging	Het
Myg1	G	A	15: 102,332,102	V76M	probably damaging	Het
Myo16	G	T	8: 10,272,766	Q65H	probably damaging	Het
Ncapg	A	G	5: 45,681,448	E487G	probably damaging	Het
Ncoa5	T	C	2: 165,002,794	E332G	probably damaging	Het
Nek6	T	A	2: 38,569,631	I162N	possibly damaging	Het
Nwd2	C	A	5: 63,800,130	R268S	probably damaging	Het
Olfr1206	T	C	2: 88,865,001	V132A	probably benign	Het
Olfr461	T	C	6: 40,544,338	I214V	probably benign	Het
Palm3	T	G	8: 84,028,147	S141A	probably benign	Het
Pbrm1	T	C	14: 31,067,579	F728L	probably damaging	Het
Phf3	A	G	1: 30,830,551	V472A	probably benign	Het
Plekha5	T	A	6: 140,568,850	L35*	probably null	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp6r2	G	A	15: 89,268,582	E309K	possibly damaging	Het
Ptpn6	T	A	6: 124,727,536		probably null	Het
Rasgrf1	T	C	9: 90,000,771	V882A	probably benign	Het
Ryr3	T	G	2: 112,650,138	E4335D	probably benign	Het
Slc12a5	T	A	2: 164,994,038	I892N	probably damaging	Het
Slc22a2	G	A	17: 12,612,431	M369I	probably benign	Het
Sox10	A	T	15: 79,156,441	Y300N	probably damaging	Het
Speg	T	C	1: 75,375,674	F79L	probably benign	Het
Sult1b1	T	A	5: 87,517,452	I208L	probably benign	Het
Syt9	A	G	7: 107,506,530	N460S	probably benign	Het
Tecpr1	T	A	5: 144,212,592	N339I	possibly damaging	Het
Tmem63b	C	A	17: 45,660,944	D782Y	possibly damaging	Het
Ttc30a2	T	C	2: 75,978,150	N6S	probably benign	Het
Ttn	T	C	2: 76,894,761		probably benign	Het
Upk3bl	G	T	5: 136,057,331	R40S	probably benign	Het
Usp28	T	C	9: 49,001,524	I25T	probably damaging	Het
Vmn2r27	A	G	6: 124,200,624	Y474H	probably damaging	Het
Vps13a	A	T	19: 16,734,882		probably null	Het
Wdr36	A	T	18: 32,849,082	N371I	possibly damaging	Het
Wnt7b	A	G	15: 85,537,777	F228S	probably damaging	Het
Xirp2	T	C	2: 67,507,910	I165T	possibly damaging	Het
Zan	T	G	5: 137,408,397		probably benign	Het
Zfp760	A	G	17: 21,723,578	D578G	possibly damaging	Het
Zfyve19	T	A	2: 119,210,785	S61T	probably benign	Het
Zfyve9	T	C	4: 108,718,669	D405G	probably damaging	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
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
R2060:Dync2h1	UTSW	9	7162802	missense	possibly damaging	0.92
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'- GCCGCTAAAACTTACCTGCTGGA -3'
(R):5'- GACTGTCATTTTCTCTGCCAGGTTGT -3'

Sequencing Primer
(F):5'- TTACCTGCTGGAGGAAAGCC -3'
(R):5'- GACACATTTTCCCCGTGAGA -3'

Posted On

2013-10-16