Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02479:Dync1i2'

295086

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dync1i2

Ensembl Gene

ENSMUSG00000027012

Gene Name

dynein cytoplasmic 1 intermediate chain 2

Synonyms

3110079H08Rik, Dncic2

Accession Numbers

Genbank: NM_010064; MGI: 107750

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL02479

Quality Score

Status

Chromosome

Chromosomal Location

71211706-71263303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71235979 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 128 (V128I)

Ref Sequence

ENSEMBL: ENSMUSP00000107767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081710] [ENSMUST00000100028] [ENSMUST00000112136] [ENSMUST00000112138] [ENSMUST00000112139] [ENSMUST00000112140] [ENSMUST00000112142] [ENSMUST00000112144]

Predicted Effect

probably benign
Transcript: ENSMUST00000081710
AA Change: V128I

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080410
Gene: ENSMUSG00000027012
AA Change: V128I

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	73	91	N/A	INTRINSIC
Pfam:Dynein_IC2	106	138	1.1e-20	PFAM
low complexity region	155	169	N/A	INTRINSIC
Blast:WD40	243	291	3e-26	BLAST
WD40	296	335	5.55e-1	SMART
WD40	342	385	7.16e-1	SMART
WD40	439	484	7.39e-3	SMART
WD40	487	527	7.28e-2	SMART
WD40	532	572	8.91e-1	SMART
low complexity region	593	607	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100028
AA Change: V148I

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097605
Gene: ENSMUSG00000027012
AA Change: V148I

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	73	91	N/A	INTRINSIC
Pfam:Dynein_IC2	126	158	2.8e-21	PFAM
low complexity region	175	189	N/A	INTRINSIC
Blast:WD40	263	311	4e-26	BLAST
WD40	316	355	5.55e-1	SMART
WD40	362	405	7.16e-1	SMART
WD40	459	504	7.39e-3	SMART
WD40	507	547	7.28e-2	SMART
WD40	552	592	8.91e-1	SMART
low complexity region	613	627	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112136
AA Change: V154I

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107764
Gene: ENSMUSG00000027012
AA Change: V154I

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	83	97	N/A	INTRINSIC
Pfam:Dynein_IC2	132	164	2.6e-21	PFAM
low complexity region	181	195	N/A	INTRINSIC
Blast:WD40	269	317	5e-26	BLAST
WD40	322	361	5.55e-1	SMART
WD40	368	411	7.16e-1	SMART
WD40	465	510	7.39e-3	SMART
WD40	513	553	7.28e-2	SMART
WD40	558	598	8.91e-1	SMART
low complexity region	618	632	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112138
AA Change: V128I

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107766
Gene: ENSMUSG00000027012
AA Change: V128I

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	73	91	N/A	INTRINSIC
Pfam:Dynein_IC2	106	138	1.1e-20	PFAM
low complexity region	155	169	N/A	INTRINSIC
Blast:WD40	243	291	3e-26	BLAST
WD40	296	335	5.55e-1	SMART
WD40	342	385	7.16e-1	SMART
WD40	439	484	7.39e-3	SMART
WD40	487	527	7.28e-2	SMART
WD40	532	572	8.91e-1	SMART
low complexity region	593	607	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112139
AA Change: V128I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107767
Gene: ENSMUSG00000027012
AA Change: V128I

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	73	91	N/A	INTRINSIC
Pfam:Dynein_IC2	106	138	4.5e-21	PFAM
low complexity region	155	169	N/A	INTRINSIC
Blast:WD40	243	291	3e-26	BLAST
WD40	296	335	5.55e-1	SMART
WD40	342	385	7.16e-1	SMART
WD40	439	484	7.39e-3	SMART
WD40	487	527	7.28e-2	SMART
WD40	532	572	8.91e-1	SMART
low complexity region	592	606	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112140
AA Change: V154I

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107768
Gene: ENSMUSG00000027012
AA Change: V154I

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	83	97	N/A	INTRINSIC
Pfam:Dynein_IC2	132	164	2.6e-21	PFAM
low complexity region	181	195	N/A	INTRINSIC
Blast:WD40	269	317	4e-26	BLAST
WD40	322	361	5.55e-1	SMART
WD40	368	411	7.16e-1	SMART
WD40	465	510	7.39e-3	SMART
WD40	513	553	7.28e-2	SMART
WD40	558	598	8.91e-1	SMART
low complexity region	619	633	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112142
AA Change: V148I

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107770
Gene: ENSMUSG00000027012
AA Change: V148I

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	73	91	N/A	INTRINSIC
Pfam:Dynein_IC2	126	158	2.8e-21	PFAM
low complexity region	175	189	N/A	INTRINSIC
Blast:WD40	263	311	4e-26	BLAST
WD40	316	355	5.55e-1	SMART
WD40	362	405	7.16e-1	SMART
WD40	459	504	7.39e-3	SMART
WD40	507	547	7.28e-2	SMART
WD40	552	592	8.91e-1	SMART
low complexity region	613	627	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112144
AA Change: V154I

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107772
Gene: ENSMUSG00000027012
AA Change: V154I

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	83	97	N/A	INTRINSIC
Pfam:Dynein_IC2	133	163	6.5e-19	PFAM
low complexity region	181	195	N/A	INTRINSIC
Blast:WD40	269	317	4e-26	BLAST
WD40	322	361	5.55e-1	SMART
WD40	368	411	7.16e-1	SMART
WD40	465	510	7.39e-3	SMART
WD40	513	553	7.28e-2	SMART
WD40	558	598	8.91e-1	SMART
low complexity region	619	633	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141619

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit a trend towards slight locomotor deficit. [provided by MGI curators]

Allele List at MGI

All alleles(50) : Targeted, other(2) Gene trapped(48)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	C	5: 121,501,398	Y528C	probably damaging	Het
Adam24	T	A	8: 40,679,532	I13N	probably benign	Het
Arsj	T	C	3: 126,438,939	S445P	possibly damaging	Het
Btf3l4	G	A	4: 108,826,176	T31I	possibly damaging	Het
Cask	A	T	X: 13,557,058	D502E	probably damaging	Het
Cenpl	T	A	1: 161,083,067	S195T	probably benign	Het
Clhc1	T	A	11: 29,578,107	I545N	probably damaging	Het
Clrn2	T	C	5: 45,463,912	I216T	probably benign	Het
Csf2rb	C	T	15: 78,341,724	Q332*	probably null	Het
Cyp3a44	T	C	5: 145,790,667	D284G	probably benign	Het
Dgka	T	C	10: 128,730,246	E345G	probably benign	Het
Eno3	T	A	11: 70,660,888		probably benign	Het
Epc2	T	A	2: 49,532,135	I347K	probably benign	Het
F8	A	T	X: 75,288,240	N681K	probably damaging	Het
Fam207a	T	C	10: 77,514,327	S76G	probably damaging	Het
Fancm	T	A	12: 65,106,485	D1238E	probably damaging	Het
Fcna	T	A	2: 25,625,260	Q237L	probably benign	Het
Fpr2	A	T	17: 17,892,812	R23S	probably benign	Het
Frmd3	A	G	4: 74,187,515	D466G	probably benign	Het
Gen1	C	A	12: 11,241,935	V618L	probably benign	Het
Gja4	T	C	4: 127,312,424	E182G	probably benign	Het
Gsdmc	T	A	15: 63,777,975	I356F	possibly damaging	Het
Kctd19	T	C	8: 105,384,768	D102G	probably damaging	Het
Lrit2	T	C	14: 37,072,278	L433P	probably damaging	Het
Lrp2	G	A	2: 69,464,801		probably benign	Het
Luc7l3	G	A	11: 94,296,909		probably benign	Het
Map3k5	T	A	10: 20,056,484	L458Q	probably damaging	Het
Mast4	A	G	13: 102,742,037	S1038P	probably damaging	Het
Med12	A	T	X: 101,296,992		probably benign	Het
Mtor	T	A	4: 148,470,584	L888M	probably damaging	Het
Nova1	A	T	12: 46,816,918	I83N	unknown	Het
Obscn	A	G	11: 59,056,227		probably benign	Het
Olfr1309	A	C	2: 111,983,385	S230A	probably benign	Het
Olfr1320	T	C	X: 49,683,865	V121A	probably benign	Het
Olfr1426	T	A	19: 12,087,905	M296L	probably benign	Het
Olfr420	C	A	1: 174,158,954	Y60*	probably null	Het
Pde2a	A	G	7: 101,501,083	Y243C	probably damaging	Het
Pdzd8	T	A	19: 59,299,783	K1062*	probably null	Het
Phc1	A	T	6: 122,323,717		probably benign	Het
Pik3c2g	T	A	6: 139,918,004	S764T	probably benign	Het
Pmp2	T	G	3: 10,182,202	R89S	probably benign	Het
Prdm2	A	G	4: 143,134,929	L597P	probably damaging	Het
Rfx6	T	A	10: 51,678,328	D88E	probably benign	Het
Rgs9	T	C	11: 109,225,652	S442G	possibly damaging	Het
Ror2	C	T	13: 53,131,932	R82Q	possibly damaging	Het
Sez6	C	A	11: 77,978,026	A986E	possibly damaging	Het
Slc5a5	T	A	8: 70,888,911	M325L	possibly damaging	Het
Sppl2c	G	A	11: 104,186,937	V188I	probably benign	Het
Srrm3	G	T	5: 135,835,249	C67F	probably damaging	Het
Stk31	A	G	6: 49,421,688	E341G	probably damaging	Het
Svil	A	T	18: 5,099,476	M1267L	probably damaging	Het
Tas2r135	C	T	6: 42,405,751	R75*	probably null	Het
Trav8d-1	T	C	14: 52,778,800	S48P	probably benign	Het
Vrk1	A	T	12: 106,051,002	Q95L	probably benign	Het
Wdr25	C	A	12: 108,898,601	T224K	probably benign	Het
Wdr37	A	T	13: 8,842,784	H224Q	probably damaging	Het
Zhx1	C	T	15: 58,054,371	E160K	probably damaging	Het

Other mutations in Dync1i2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00789:Dync1i2	APN	2	71247955	splice site	probably benign
IGL01609:Dync1i2	APN	2	71247008	splice site	probably benign
IGL02545:Dync1i2	APN	2	71262751	missense	possibly damaging	0.95
3-1:Dync1i2	UTSW	2	71247828	missense	probably damaging	1.00
R0015:Dync1i2	UTSW	2	71214484	missense	probably damaging	1.00
R0015:Dync1i2	UTSW	2	71214484	missense	probably damaging	1.00
R0437:Dync1i2	UTSW	2	71227825	critical splice acceptor site	probably null
R0555:Dync1i2	UTSW	2	71214518	frame shift	probably null
R0835:Dync1i2	UTSW	2	71250972	missense	probably damaging	1.00
R1146:Dync1i2	UTSW	2	71227820	splice site	probably benign
R1452:Dync1i2	UTSW	2	71249863	splice site	probably benign
R1662:Dync1i2	UTSW	2	71250979	missense	possibly damaging	0.87
R1765:Dync1i2	UTSW	2	71249415	missense	probably benign
R2059:Dync1i2	UTSW	2	71249853	critical splice donor site	probably null
R2145:Dync1i2	UTSW	2	71214563	splice site	probably benign
R2233:Dync1i2	UTSW	2	71249420	nonsense	probably null
R2234:Dync1i2	UTSW	2	71249420	nonsense	probably null
R2235:Dync1i2	UTSW	2	71249420	nonsense	probably null
R3151:Dync1i2	UTSW	2	71233716	splice site	probably benign
R3916:Dync1i2	UTSW	2	71249372	missense	probably damaging	1.00
R4653:Dync1i2	UTSW	2	71247855	missense	probably damaging	1.00
R4720:Dync1i2	UTSW	2	71233674	missense	probably damaging	1.00
R4920:Dync1i2	UTSW	2	71247324	missense	probably damaging	1.00
R5574:Dync1i2	UTSW	2	71233650	missense	probably benign	0.15
R5620:Dync1i2	UTSW	2	71258139	missense	probably benign	0.00
R5677:Dync1i2	UTSW	2	71228623	missense	probably benign	0.00
R5711:Dync1i2	UTSW	2	71250982	missense	probably benign	0.31
R6730:Dync1i2	UTSW	2	71247140	missense	probably benign	0.18
R6911:Dync1i2	UTSW	2	71247102	missense	probably benign
R7140:Dync1i2	UTSW	2	71247939	missense	probably benign	0.03
R7257:Dync1i2	UTSW	2	71249356	missense	possibly damaging	0.92
R7460:Dync1i2	UTSW	2	71250886	missense	probably damaging	0.97
Z1176:Dync1i2	UTSW	2	71247884	missense	probably benign	0.06

Posted On

2015-04-16