Mutagenetix > Incidental Mutation

Incidental Mutation 'R4653:Dync1i2'

351452

Institutional Source

Beutler Lab

Gene Symbol

Dync1i2

Ensembl Gene

ENSMUSG00000027012

Gene Name

dynein cytoplasmic 1 intermediate chain 2

Synonyms

3110079H08Rik, Dncic2

MMRRC Submission

041913-MU

Accession Numbers

Genbank: NM_010064; MGI: 107750

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R4653 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71211706-71263303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71247855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 276 (N276S)

Ref Sequence

ENSEMBL: ENSMUSP00000107767 (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: N276S

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080410
Gene: ENSMUSG00000027012
AA Change: N276S

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: N296S

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097605
Gene: ENSMUSG00000027012
AA Change: N296S

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: N302S

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107764
Gene: ENSMUSG00000027012
AA Change: N302S

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: N276S

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107766
Gene: ENSMUSG00000027012
AA Change: N276S

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: N276S

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

SMART Domains

Protein: ENSMUSP00000107767
Gene: ENSMUSG00000027012
AA Change: N276S

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: N302S

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107768
Gene: ENSMUSG00000027012
AA Change: N302S

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: N296S

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107770
Gene: ENSMUSG00000027012
AA Change: N296S

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: N302S

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107772
Gene: ENSMUSG00000027012
AA Change: N302S

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

Meta Mutation Damage Score

0.2118

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (66/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 79,067,430	T351A	probably benign	Het
3930402G23Rik	A	T	8: 10,926,075		noncoding transcript	Het
4933409G03Rik	G	A	2: 68,606,215	E168K	unknown	Het
Abca4	G	T	3: 122,138,581	E295*	probably null	Het
Abi3	T	C	11: 95,832,811	I215V	probably benign	Het
Adhfe1	G	T	1: 9,550,578		probably benign	Het
Akr1a1	A	G	4: 116,637,959		probably benign	Het
Ank	T	A	15: 27,590,361	W344R	probably null	Het
Cast	A	G	13: 74,746,014	S171P	probably benign	Het
Ccdc39	A	G	3: 33,819,806		probably null	Het
Cd180	T	A	13: 102,704,908	L154H	probably damaging	Het
Cnp	A	T	11: 100,576,516	D95V	probably benign	Het
Cul1	T	C	6: 47,484,963	I20T	probably damaging	Het
Dnah6	T	C	6: 73,073,457	K3042R	possibly damaging	Het
Dpy19l1	A	C	9: 24,482,054	S140A	possibly damaging	Het
Dpys	C	A	15: 39,793,246	R475L	probably damaging	Het
Ext2	T	C	2: 93,696,159	S711G	probably benign	Het
Fam71e2	T	C	7: 4,758,055	R553G	possibly damaging	Het
Fancm	A	G	12: 65,083,054	Y223C	probably damaging	Het
Folh1	C	A	7: 86,744,425	G360*	probably null	Het
Gcat	T	C	15: 79,035,287	S151P	probably damaging	Het
Gcm2	A	T	13: 41,102,841	D477E	probably benign	Het
Git1	A	G	11: 77,505,043	N468S	possibly damaging	Het
Gtf3c1	T	C	7: 125,674,100	I622V	probably benign	Het
Hsd17b13	G	A	5: 103,965,836	L251F	probably damaging	Het
Lamc1	T	G	1: 153,228,777	S59R	probably damaging	Het
Llgl1	A	G	11: 60,708,651	D486G	possibly damaging	Het
Lrrk1	T	C	7: 66,273,053	I1366V	probably benign	Het
Ly9	G	T	1: 171,594,029	H441Q	probably benign	Het
Myo15b	G	A	11: 115,879,987		probably null	Het
Nomo1	G	T	7: 46,061,813	A639S	probably benign	Het
P3h2	T	C	16: 26,105,277	D136G	probably damaging	Het
Pde4dip	A	T	3: 97,767,338	D87E	probably damaging	Het
Pdpk1	A	T	17: 24,106,897	D108E	probably benign	Het
Pex26	C	T	6: 121,190,125	S231L	probably damaging	Het
Prpf38b	G	A	3: 108,904,092		probably benign	Het
Prpf4b	A	T	13: 34,899,971	M908L	probably benign	Het
Prps2	T	C	X: 167,352,292	D183G	probably damaging	Het
R3hdm1	T	C	1: 128,184,444	S422P	probably damaging	Het
Rhox2a	G	C	X: 37,245,309	R43P	probably benign	Het
Rps6-ps2	A	G	8: 88,806,691		noncoding transcript	Het
Ryr3	T	A	2: 112,652,763	N4213I	probably damaging	Het
Slc7a14	A	G	3: 31,257,682	V63A	probably damaging	Het
Soga1	A	G	2: 157,040,591	F514L	probably damaging	Het
Sppl2a	C	T	2: 126,920,313		probably null	Het
Sspo	T	A	6: 48,478,646	W3077R	probably damaging	Het
Stag1	T	A	9: 100,796,716	M230K	probably damaging	Het
Sv2a	T	C	3: 96,190,762		probably null	Het
Themis2	A	G	4: 132,782,976	S638P	probably benign	Het
Trabd	A	G	15: 89,085,839	Y346C	probably damaging	Het
Trim38	A	T	13: 23,782,969	D133V	probably damaging	Het
Trmt1l	G	A	1: 151,439,569	V16I	probably benign	Het
Ube2b	A	G	11: 51,995,372		probably null	Het
Usp13	A	T	3: 32,837,924	Q84L	probably damaging	Het
Vmn1r172	G	T	7: 23,660,572	G294V	probably damaging	Het
Vmn2r59	A	T	7: 42,043,804	H457Q	probably benign	Het
Vmn2r63	A	G	7: 42,903,690	I714T	possibly damaging	Het
Vps8	T	C	16: 21,500,210	Y602H	probably damaging	Het
Zbp1	G	A	2: 173,207,815	P385S	possibly 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
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
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'- TTGACTCGCGTACCTTAGAAG -3'
(R):5'- ACGCCAGTCCAATGAAATCATG -3'

Sequencing Primer
(F):5'- GAAGGAAAAATTGGAACTGCTTTTAG -3'
(R):5'- CCAGTCCAATGAAATCATGTTGATGG -3'

Posted On

2015-10-08