Mutagenetix > Incidental Mutations

Incidental Mutation 'R5050:Dync1li2'

394598

Institutional Source

Beutler Lab

Gene Symbol

Dync1li2

Ensembl Gene

ENSMUSG00000035770

Gene Name

dynein, cytoplasmic 1 light intermediate chain 2

Synonyms

LIC2, Dnclic2, Dncli2

MMRRC Submission

042640-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

R5050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104417680-104443047 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104437441 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 151 (K151E)

Ref Sequence

ENSEMBL: ENSMUSP00000148681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041769] [ENSMUST00000212148] [ENSMUST00000212654]

Predicted Effect

probably damaging
Transcript: ENSMUST00000041769
AA Change: K151E

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

SMART Domains

Protein: ENSMUSP00000045480
Gene: ENSMUSG00000035770
AA Change: K151E

Domain	Start	End	E-Value	Type
Pfam:DLIC	30	491	5.8e-264	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211969

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212040

Predicted Effect

probably benign
Transcript: ENSMUST00000212148

Predicted Effect

unknown
Transcript: ENSMUST00000212230
AA Change: K78E

Predicted Effect

probably damaging
Transcript: ENSMUST00000212654
AA Change: K151E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212678

Meta Mutation Damage Score

0.5093

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 9,012,458		probably benign	Het
Ap3m1	A	G	14: 21,044,775	I108T	probably benign	Het
Apobec1	T	C	6: 122,591,102	M1V	probably null	Het
Aqr	A	T	2: 114,112,609	L1161*	probably null	Het
Aqr	A	T	2: 114,170,025		probably null	Het
Arhgef37	A	G	18: 61,504,331	I420T	probably benign	Het
Cacna1g	C	T	11: 94,459,715	E435K	probably damaging	Het
Card6	G	T	15: 5,100,376	H513N	probably benign	Het
Ccdc158	A	C	5: 92,666,879	F29L	probably benign	Het
Ccr6	T	C	17: 8,256,104	L47S	probably damaging	Het
Cdc42bpa	T	A	1: 180,072,453	Y444*	probably null	Het
Cdh17	A	G	4: 11,784,654	Y270C	probably damaging	Het
Cdh9	T	C	15: 16,778,147	F16S	probably benign	Het
Cdkl1	T	C	12: 69,757,240	K141R	probably damaging	Het
Chd4	T	C	6: 125,107,480	Y692H	probably damaging	Het
Dhrs7	T	A	12: 72,657,410	D104V	probably damaging	Het
Dhtkd1	A	T	2: 5,917,689	L553Q	probably benign	Het
Dnah7a	T	G	1: 53,497,096	D2596A	probably benign	Het
Eno4	C	T	19: 58,955,496	H297Y	probably benign	Het
Epg5	T	A	18: 77,975,941	D976E	possibly damaging	Het
Fam160b1	T	A	19: 57,383,170	F571L	probably damaging	Het
Gm1966	T	C	7: 106,596,972		noncoding transcript	Het
Gm4553	C	A	7: 142,165,036	K218N	unknown	Het
Gm4788	T	A	1: 139,736,840	I494F	probably damaging	Het
Gpld1	A	T	13: 24,962,756	T234S	probably benign	Het
Gtpbp6	A	T	5: 110,104,701		probably benign	Het
Gucy2g	T	C	19: 55,240,935	E101G	probably benign	Het
Hira	G	A	16: 18,925,859	R442K	possibly damaging	Het
Hrh3	A	G	2: 180,100,557	L394P	probably damaging	Het
Igkv1-110	T	A	6: 68,271,192	F95Y	probably damaging	Het
Iqgap3	T	G	3: 88,090,186	V223G	probably damaging	Het
Itpk1	T	C	12: 102,704,810	T3A	probably damaging	Het
Jag1	A	G	2: 137,085,154	V895A	possibly damaging	Het
Kazn	G	A	4: 142,118,203		probably benign	Het
Large2	A	T	2: 92,367,779	L282Q	probably benign	Het
Lgmn	A	G	12: 102,403,421		probably null	Het
Lrp4	A	T	2: 91,492,422	I1119F	probably benign	Het
Map3k19	T	C	1: 127,823,562	H684R	probably benign	Het
Mier3	C	T	13: 111,714,573	A367V	possibly damaging	Het
Mpdz	A	G	4: 81,295,448	V1579A	probably benign	Het
Mroh2b	A	T	15: 4,900,450	D6V	possibly damaging	Het
Myh7b	A	G	2: 155,631,750	I1568V	probably benign	Het
Olfr675	T	A	7: 105,024,387	I198F	probably damaging	Het
Plch2	C	T	4: 155,043,309		probably benign	Het
Plek	T	C	11: 16,995,216	D38G	probably damaging	Het
Polr2f	A	G	15: 79,144,662		probably benign	Het
Samsn1	A	G	16: 75,888,757	S38P	probably benign	Het
Sf1	C	T	19: 6,372,559	T248I	probably damaging	Het
Sgms2	C	T	3: 131,330,356	V232M	probably benign	Het
Sharpin	A	T	15: 76,348,330	L160H	probably damaging	Het
Sympk	C	T	7: 19,036,042	R215C	probably benign	Het
Syn3	T	C	10: 86,407,668	T136A	probably benign	Het
Tcam1	G	A	11: 106,285,452	V335M	possibly damaging	Het
Tedc1	G	T	12: 113,156,705	V56L	possibly damaging	Het
Tenm4	T	C	7: 96,895,788	L2337P	probably damaging	Het
Ttn	G	A	2: 76,884,811		probably benign	Het
Tysnd1	T	A	10: 61,696,271	I234N	probably damaging	Het
Vmn2r51	T	C	7: 10,100,422	K230E	probably damaging	Het

Other mutations in Dync1li2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Dync1li2	APN	8	104442498	missense	possibly damaging	0.95
IGL01143:Dync1li2	APN	8	104429453	missense	probably damaging	0.96
E0354:Dync1li2	UTSW	8	104425467	missense	probably damaging	0.99
R0102:Dync1li2	UTSW	8	104428125	missense	probably benign	0.00
R0102:Dync1li2	UTSW	8	104428125	missense	probably benign	0.00
R0555:Dync1li2	UTSW	8	104420665	missense	probably benign
R0784:Dync1li2	UTSW	8	104442498	missense	probably damaging	0.99
R1532:Dync1li2	UTSW	8	104426035	missense	probably damaging	1.00
R1632:Dync1li2	UTSW	8	104437491	missense	probably damaging	0.99
R2877:Dync1li2	UTSW	8	104429415	missense	probably damaging	1.00
R2878:Dync1li2	UTSW	8	104429415	missense	probably damaging	1.00
R4272:Dync1li2	UTSW	8	104423143	missense	probably damaging	0.96
R4380:Dync1li2	UTSW	8	104428166	missense	probably damaging	1.00
R5218:Dync1li2	UTSW	8	104442547	nonsense	probably null
R5501:Dync1li2	UTSW	8	104440472	critical splice donor site	probably null
R5628:Dync1li2	UTSW	8	104420592	missense	possibly damaging	0.95
R6542:Dync1li2	UTSW	8	104442764	missense	probably benign	0.09
R6727:Dync1li2	UTSW	8	104440535	missense	probably damaging	0.98
R7384:Dync1li2	UTSW	8	104442543	missense	probably benign	0.06
R7627:Dync1li2	UTSW	8	104429508	missense	probably benign	0.30
R7796:Dync1li2	UTSW	8	104430549	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAGGAAGGCCGTTGAAGG -3'
(R):5'- GATAATGTGGCTTTGTTCCTCTCTC -3'

Sequencing Primer
(F):5'- AACCTGGGTTCTCTACGAGAG -3'
(R):5'- TCCCCAGATCACACACGCTG -3'

Posted On

2016-06-15