Mutagenetix > Incidental Mutation

Incidental Mutation 'R7257:Dync1i2'

564315

Institutional Source

Beutler Lab

Gene Symbol

Dync1i2

Ensembl Gene

ENSMUSG00000027012

Gene Name

dynein cytoplasmic 1 intermediate chain 2

Synonyms

3110079H08Rik, Dncic2

MMRRC Submission

Accession Numbers

Genbank: NM_010064; MGI: 107750

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R7257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71211706-71263303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71249356 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 391 (N391K)

Ref Sequence

ENSEMBL: ENSMUSP00000107770 (fasta)

Gene Model

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

AlphaFold

O88487

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081710
AA Change: N371K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080410
Gene: ENSMUSG00000027012
AA Change: N371K

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

possibly damaging
Transcript: ENSMUST00000100028
AA Change: N391K

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097605
Gene: ENSMUSG00000027012
AA Change: N391K

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

possibly damaging
Transcript: ENSMUST00000112136
AA Change: N397K

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107764
Gene: ENSMUSG00000027012
AA Change: N397K

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

possibly damaging
Transcript: ENSMUST00000112138
AA Change: N371K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107766
Gene: ENSMUSG00000027012
AA Change: N371K

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: N371K

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

SMART Domains

Protein: ENSMUSP00000107767
Gene: ENSMUSG00000027012
AA Change: N371K

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

possibly damaging
Transcript: ENSMUST00000112140
AA Change: N397K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107768
Gene: ENSMUSG00000027012
AA Change: N397K

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

possibly damaging
Transcript: ENSMUST00000112142
AA Change: N391K

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107770
Gene: ENSMUSG00000027012
AA Change: N391K

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

possibly damaging
Transcript: ENSMUST00000112144
AA Change: N397K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107772
Gene: ENSMUSG00000027012
AA Change: N397K

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

Meta Mutation Damage Score

0.7997

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	T	6: 88,839,452	V120E	probably benign	Het
Acot11	G	A	4: 106,758,402	T284M	probably damaging	Het
Adk	G	T	14: 21,052,671	K11N	probably damaging	Het
Akr1c14	T	A	13: 4,088,966	N316K	probably benign	Het
AL732309.1	A	T	2: 25,245,839	V121D	probably benign	Het
Amh	C	A	10: 80,806,653	Q257K	probably benign	Het
Antxrl	T	G	14: 34,065,849	H276Q	probably benign	Het
Atp5o	G	A	16: 91,926,867	T105M	probably damaging	Het
Atp5s	T	C	12: 69,741,669	I114T	probably damaging	Het
Atxn2	T	G	5: 121,785,817	N734K	possibly damaging	Het
B3gat3	T	A	19: 8,925,738	V153D	probably benign	Het
Brd2	A	G	17: 34,113,822	V528A	probably damaging	Het
Camk2g	T	C	14: 20,747,839	S335G	probably benign	Het
Cbln2	T	A	18: 86,716,734	W211R	probably damaging	Het
Cry2	A	T	2: 92,412,981	I505N	possibly damaging	Het
Ddx55	T	A	5: 124,560,721	C249S	possibly damaging	Het
Dglucy	A	G	12: 100,842,738	T232A	probably damaging	Het
Dhx32	A	G	7: 133,759,477	Y76H	probably benign	Het
Dock7	T	A	4: 98,973,412	N1356I	unknown	Het
Dock8	T	A	19: 25,127,085	N710K	probably benign	Het
Ect2	A	G	3: 27,138,535	S420P	probably damaging	Het
Efcab5	T	A	11: 77,137,779	E242V	probably damaging	Het
Fam83g	T	A	11: 61,684,753	Y74N	probably damaging	Het
Fbxo34	T	A	14: 47,500,872		probably null	Het
Flt4	A	G	11: 49,626,009	T208A	probably benign	Het
Fxyd5	T	A	7: 31,035,151	H183L	unknown	Het
Gpr150	T	G	13: 76,056,466	D120A	probably benign	Het
Grm7	A	G	6: 110,646,118	Y84C	probably damaging	Het
Ighmbp2	A	G	19: 3,266,405	S562P	probably damaging	Het
Itga7	A	G	10: 128,944,413	Y530C	possibly damaging	Het
Itpr3	T	A	17: 27,118,561	D2448E	probably benign	Het
Mmp17	C	A	5: 129,595,633	H216Q	probably benign	Het
Mns1	C	T	9: 72,452,815	R416W	probably damaging	Het
Mog	A	G	17: 37,023,127	S25P	unknown	Het
Myh2	A	G	11: 67,181,150	K568R	possibly damaging	Het
Myh7	A	T	14: 54,972,490		probably null	Het
Mymk	A	T	2: 27,067,368	W79R	probably damaging	Het
Ncoa4	T	G	14: 32,177,369	L623R	probably damaging	Het
Oca2	G	A	7: 56,279,538		probably benign	Het
Odam	A	C	5: 87,887,545	S123R	probably benign	Het
Olfr1155	A	G	2: 87,943,571	F19S	probably damaging	Het
Olfr263	A	G	13: 21,133,257	T161A	probably benign	Het
Olfr292	T	A	7: 86,694,804	M116K	probably damaging	Het
Olfr583	T	C	7: 103,051,630	F111L	probably benign	Het
Olfr765	C	T	10: 129,046,455	V203M	probably benign	Het
Olfr816	T	A	10: 129,912,287		probably benign	Het
Ovch2	C	T	7: 107,794,433	C162Y	probably damaging	Het
Padi1	C	A	4: 140,829,471	G142C	probably damaging	Het
Pcdhga4	A	G	18: 37,687,398	I667V	probably damaging	Het
Pfas	A	T	11: 68,992,959	V624E	probably damaging	Het
Phb	A	T	11: 95,678,091	E184V	probably damaging	Het
Phlpp2	G	T	8: 109,940,188	M1116I	probably benign	Het
Pip5kl1	T	C	2: 32,580,431		probably null	Het
Pitpnm2	T	A	5: 124,125,356	I824F	possibly damaging	Het
Pla2g4c	G	A	7: 13,325,744	S2N	possibly damaging	Het
Pla2r1	A	T	2: 60,427,625		probably null	Het
Pole2	T	C	12: 69,202,910	D521G	probably damaging	Het
Ptch1	T	C	13: 63,573,294	K54E	not run	Het
Rapgef2	A	T	3: 79,082,627	L931Q	probably damaging	Het
Rassf3	G	A	10: 121,413,019	Q206*	probably null	Het
Rnf123	T	A	9: 108,069,029	T316S	probably damaging	Het
Rnf138	T	A	18: 21,008,693		probably null	Het
Sept3	G	A	15: 82,289,213	A249T	probably damaging	Het
Slc35a4	A	T	18: 36,679,616	D3V	unknown	Het
Sltm	T	A	9: 70,543,965		probably null	Het
Smarca2	C	T	19: 26,654,464	Q560*	probably null	Het
Tcl1b1	A	T	12: 105,164,531	D91V	probably damaging	Het
Tirap	A	T	9: 35,189,034	V118E	probably damaging	Het
Tlr5	T	A	1: 182,974,233	Y367*	probably null	Het
Tmcc1	A	G	6: 116,107,338	F5L	probably benign	Het
Tnxb	A	G	17: 34,716,501	M2592V	probably benign	Het
Trim66	T	A	7: 109,460,244	E931V	probably damaging	Het
Ttn	A	G	2: 76,741,094	I26485T	probably damaging	Het
Veph1	C	A	3: 66,158,282	V455L	probably benign	Het
Vmn1r125	A	T	7: 21,272,825	H216L	probably damaging	Het
Wdr17	T	A	8: 54,632,487	E1200D	probably benign	Het
Zbtb37	T	A	1: 161,032,661	N25Y	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
IGL02479:Dync1i2	APN	2	71235979	missense	probably damaging	1.00
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
R7460:Dync1i2	UTSW	2	71250886	missense	probably damaging	0.97
R7808:Dync1i2	UTSW	2	71250834	splice site	probably null
R8187:Dync1i2	UTSW	2	71214521	missense	probably benign	0.13
R9340:Dync1i2	UTSW	2	71262675	missense	probably damaging	0.99
Z1176:Dync1i2	UTSW	2	71247884	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AAGCTGGCAGGTTAACAAACC -3'
(R):5'- CCAACTCCATGCTATCCTAGAG -3'

Sequencing Primer
(F):5'- CTGTTTTGATAGGAATTGGAATACCC -3'
(R):5'- CCTCAGTTAAATGAAAAAGCTTTGG -3'

Posted On

2019-06-26