Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01738:Dync2h1'

105758

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dync2h1

Ensembl Gene

ENSMUSG00000047193

Gene Name

dynein cytoplasmic 2 heavy chain 1

Synonyms

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01738

Quality Score

Status

Chromosome

Chromosomal Location

6928503-7184446 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 7114922 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 179 (L179R)

Ref Sequence

ENSEMBL: ENSMUSP00000149764 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048417
AA Change: L2412R

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046733
Gene: ENSMUSG00000047193
AA Change: L2412R

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 benign
Transcript: ENSMUST00000139671

SMART Domains

Protein: ENSMUSP00000116242
Gene: ENSMUSG00000047193

Domain	Start	End	E-Value	Type
low complexity region	59	73	N/A	INTRINSIC
Pfam:AAA_8	89	352	3e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140466
AA Change: L2412R

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120007
Gene: ENSMUSG00000047193
AA Change: L2412R

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 benign
Transcript: ENSMUST00000147193
AA Change: L2412R

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116679
Gene: ENSMUSG00000047193
AA Change: L2412R

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
AA Change: L110R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216097
AA Change: L179R

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 105,710,036	D288V	probably damaging	Het
Agtr1a	G	A	13: 30,381,038	V29I	probably benign	Het
Akap6	G	T	12: 52,886,817	C364F	probably damaging	Het
Calcrl	T	G	2: 84,370,449	M84L	probably benign	Het
Cep128	C	A	12: 91,230,842	G402C	probably damaging	Het
Cfap43	A	G	19: 47,797,185	L422P	probably damaging	Het
Cnbd2	C	A	2: 156,375,617		probably benign	Het
Col27a1	A	G	4: 63,263,779		probably benign	Het
Cyp3a44	A	G	5: 145,794,935	S134P	probably damaging	Het
Ell	T	A	8: 70,581,681		probably null	Het
Gfm1	A	G	3: 67,456,661	E490G	probably benign	Het
Glt1d1	T	G	5: 127,632,355		probably benign	Het
Gm10267	A	T	18: 44,159,275	I10K	possibly damaging	Het
Htra4	A	G	8: 25,025,711	V437A	probably damaging	Het
Ighv1-69	T	C	12: 115,623,441	Q24R	possibly damaging	Het
Igkv14-111	G	A	6: 68,256,459		probably benign	Het
Ipcef1	A	T	10: 6,890,575	I374N	probably damaging	Het
Iqgap1	T	C	7: 80,723,900	D1447G	possibly damaging	Het
Mast4	A	G	13: 102,737,241	F1681S	probably damaging	Het
Mmp3	A	T	9: 7,446,946	N42I	possibly damaging	Het
Mybpc1	G	T	10: 88,570,645	F126L	probably damaging	Het
Myo1e	A	G	9: 70,359,370	K631E	probably damaging	Het
Olfr902	A	C	9: 38,449,646	Y258S	probably damaging	Het
Pcsk5	T	A	19: 17,433,780		probably benign	Het
Serpina3b	T	G	12: 104,130,832	L124R	probably damaging	Het
Srgap2	T	C	1: 131,296,426	I95V	probably benign	Het
Sstr5	A	T	17: 25,491,610	I215N	probably damaging	Het
Top3b	G	A	16: 16,880,604	V104M	probably benign	Het
Tspan8	G	A	10: 115,817,665		probably null	Het
Vmn2r102	A	G	17: 19,677,758	Y345C	probably damaging	Het
Vmn2r17	G	A	5: 109,429,498	G472S	probably damaging	Het
Zmpste24	A	T	4: 121,061,111	L438Q	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
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
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	intron	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
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
R7653:Dync2h1	UTSW	9	7117570	missense	probably benign
X0009:Dync2h1	UTSW	9	7117576	missense	possibly damaging	0.81

Posted On

2014-01-21