Mutagenetix > Incidental Mutation

Incidental Mutation 'R8161:Dync1li1'

633528

Institutional Source

Beutler Lab

Gene Symbol

Dync1li1

Ensembl Gene

ENSMUSG00000032435

Gene Name

dynein cytoplasmic 1 light intermediate chain 1

Synonyms

1110053F02Rik, LIC-1, Dlic1, Dnclic1

MMRRC Submission

067587-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

R8161 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114517899-114552856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 114535251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 172 (H172N)

Ref Sequence

ENSEMBL: ENSMUSP00000035366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047404]

AlphaFold

Q8R1Q8

Predicted Effect

probably damaging
Transcript: ENSMUST00000047404
AA Change: H172N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035366
Gene: ENSMUSG00000032435
AA Change: H172N

Domain	Start	End	E-Value	Type
Pfam:DLIC	43	519	2.7e-258	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 97.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to light intermediate subunit family, whose members are components of the multiprotein cytoplasmic dynein complex, which is involved in intracellular trafficking and chromosome segregation during mitosis. The protein plays a role in moving the spindle assembly checkpoint (SAC) from kinetochores to spindle poles. The protein may also mediate binding to other cargo molecules to facilitate intracellular vesicle trafficking. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit increased anxiety-related response, increased dendrite length, increased neuron migration, and decreased lysosome trafficking. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	T	C	9: 101,815,968 (GRCm39)	L51P	probably damaging	Het
Adgrb3	A	T	1: 25,133,003 (GRCm39)	M1121K	probably benign	Het
Ank2	T	C	3: 126,825,778 (GRCm39)	N371S		Het
Arhgef5	T	A	6: 43,260,885 (GRCm39)	C1437S	probably damaging	Het
Atp8b1	A	T	18: 64,690,058 (GRCm39)	L558Q	probably damaging	Het
Bsn	T	C	9: 108,016,729 (GRCm39)	K94R	probably benign	Het
Cacna2d1	T	A	5: 16,519,935 (GRCm39)	V435D	probably damaging	Het
Chd3	T	C	11: 69,241,711 (GRCm39)	N1474S	probably damaging	Het
Chd7	A	G	4: 8,855,038 (GRCm39)	D2089G	probably damaging	Het
Col11a2	T	A	17: 34,270,264 (GRCm39)	M492K	unknown	Het
Col16a1	A	T	4: 129,954,262 (GRCm39)	T502S	unknown	Het
Csl	A	T	10: 99,594,182 (GRCm39)	N294K	probably damaging	Het
Dnah5	T	A	15: 28,350,850 (GRCm39)	M2624K	possibly damaging	Het
Eef1a1	C	T	9: 78,387,672 (GRCm39)	V59I	probably benign	Het
Ephb1	T	C	9: 102,072,012 (GRCm39)	K256E	probably damaging	Het
Erlin2	C	A	8: 27,518,970 (GRCm39)	T78N	probably damaging	Het
Fbxo10	A	G	4: 45,044,793 (GRCm39)	L614P	probably damaging	Het
Fer1l4	A	T	2: 155,866,555 (GRCm39)	D1555E	probably benign	Het
Gabrr2	A	G	4: 33,082,566 (GRCm39)	D230G	probably damaging	Het
Gen1	A	T	12: 11,291,465 (GRCm39)	S840T	probably benign	Het
Glyctk	G	A	9: 106,034,892 (GRCm39)	T58I	probably benign	Het
Gm12258	G	A	11: 58,750,138 (GRCm39)	A438T	unknown	Het
Gm14305	A	G	2: 176,413,298 (GRCm39)	T397A	probably benign	Het
Hnrnpu	G	T	1: 178,165,067 (GRCm39)	R24S	possibly damaging	Het
Iffo2	A	G	4: 139,302,265 (GRCm39)	N3D	possibly damaging	Het
Insr	C	T	8: 3,308,660 (GRCm39)	M125I	probably damaging	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Kcnj16	T	A	11: 110,915,341 (GRCm39)	M1K	probably null	Het
Kcns3	G	A	12: 11,169,764 (GRCm39)		probably benign	Het
Kmt2c	A	G	5: 25,579,562 (GRCm39)	V578A	probably benign	Het
Krt79	T	C	15: 101,839,137 (GRCm39)	K444R	probably damaging	Het
Mtg2	T	C	2: 179,727,368 (GRCm39)	V340A	probably benign	Het
Mtr	A	C	13: 12,236,372 (GRCm39)	L618R	probably damaging	Het
Myo6	T	A	9: 80,124,991 (GRCm39)	D23E	unknown	Het
Nos1ap	A	G	1: 170,218,328 (GRCm39)	V27A	probably damaging	Het
Npc1	A	T	18: 12,328,129 (GRCm39)	I1060K	possibly damaging	Het
Nrbp1	T	A	5: 31,401,193 (GRCm39)	L23*	probably null	Het
Or10ag52	T	C	2: 87,044,148 (GRCm39)	I304T	probably damaging	Het
Or1p1c	A	T	11: 74,160,544 (GRCm39)	M110L	probably benign	Het
Or6c6c	A	T	10: 129,540,753 (GRCm39)	K2I	possibly damaging	Het
Or8b3	C	A	9: 38,314,803 (GRCm39)	T211K	probably damaging	Het
Or9s13	G	A	1: 92,548,078 (GRCm39)	R150H	probably benign	Het
Pcdhgc5	A	T	18: 37,954,615 (GRCm39)	T630S	probably damaging	Het
Pgm2	C	A	5: 64,269,503 (GRCm39)	T530K	probably damaging	Het
Phf20l1	A	T	15: 66,475,922 (GRCm39)	N185I	probably damaging	Het
Pkp2	A	G	16: 16,031,313 (GRCm39)	D26G	probably damaging	Het
Rangap1	C	T	15: 81,594,696 (GRCm39)	E378K	probably benign	Het
Rapgef1	A	C	2: 29,569,210 (GRCm39)	I43L	probably benign	Het
Rbfox1	A	G	16: 7,094,892 (GRCm39)	T111A		Het
Rptn	GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA	GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA	3: 93,304,000 (GRCm39)		probably benign	Het
Spata16	A	T	3: 26,894,811 (GRCm39)	M287L	probably benign	Het
Speer4a2	T	C	5: 26,289,690 (GRCm39)	S246G	possibly damaging	Het
Stau2	A	G	1: 16,416,049 (GRCm39)	M470T	probably benign	Het
Tcf12	T	C	9: 71,922,933 (GRCm39)	Y70C	probably damaging	Het
Tsc22d1	C	T	14: 76,654,460 (GRCm39)	T313M	probably benign	Het
Vmn1r52	T	A	6: 90,156,239 (GRCm39)	M181K	possibly damaging	Het
Zbtb48	A	T	4: 152,106,567 (GRCm39)	C345S	probably damaging	Het
Zfp628	G	A	7: 4,921,958 (GRCm39)	R60Q	probably damaging	Het
Zfp638	T	C	6: 83,906,713 (GRCm39)	S293P	possibly damaging	Het
Zkscan17	G	A	11: 59,393,770 (GRCm39)	P183S	probably benign	Het
Zscan12	G	T	13: 21,547,897 (GRCm39)	K26N	probably benign	Het

Other mutations in Dync1li1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Dync1li1	APN	9	114,549,665 (GRCm39)	missense	possibly damaging	0.89
R1510:Dync1li1	UTSW	9	114,518,278 (GRCm39)	missense	possibly damaging	0.59
R1824:Dync1li1	UTSW	9	114,538,252 (GRCm39)	missense	probably benign	0.01
R1955:Dync1li1	UTSW	9	114,550,814 (GRCm39)	missense	probably damaging	0.99
R2000:Dync1li1	UTSW	9	114,542,631 (GRCm39)	missense	probably benign	0.05
R2520:Dync1li1	UTSW	9	114,518,074 (GRCm39)	missense	probably null	0.17
R2912:Dync1li1	UTSW	9	114,544,743 (GRCm39)	missense	probably benign	0.31
R4418:Dync1li1	UTSW	9	114,535,238 (GRCm39)	missense	probably damaging	1.00
R4422:Dync1li1	UTSW	9	114,538,377 (GRCm39)	missense	probably damaging	1.00
R4646:Dync1li1	UTSW	9	114,538,237 (GRCm39)	missense	probably damaging	0.96
R4693:Dync1li1	UTSW	9	114,535,166 (GRCm39)	missense	probably damaging	0.99
R4817:Dync1li1	UTSW	9	114,534,162 (GRCm39)	missense	probably benign	0.09
R5027:Dync1li1	UTSW	9	114,542,612 (GRCm39)	missense	probably damaging	1.00
R5274:Dync1li1	UTSW	9	114,544,273 (GRCm39)	missense	possibly damaging	0.84
R5363:Dync1li1	UTSW	9	114,544,297 (GRCm39)	missense	probably damaging	0.99
R5902:Dync1li1	UTSW	9	114,546,929 (GRCm39)	critical splice acceptor site	probably null
R6359:Dync1li1	UTSW	9	114,542,638 (GRCm39)	missense	probably benign	0.29
R7235:Dync1li1	UTSW	9	114,544,231 (GRCm39)	missense	possibly damaging	0.58
R7757:Dync1li1	UTSW	9	114,538,345 (GRCm39)	missense	possibly damaging	0.65
R8191:Dync1li1	UTSW	9	114,538,253 (GRCm39)	missense	probably benign	0.02
R8703:Dync1li1	UTSW	9	114,552,329 (GRCm39)	missense	probably damaging	0.98
R8733:Dync1li1	UTSW	9	114,534,178 (GRCm39)	missense	probably damaging	0.97
R9211:Dync1li1	UTSW	9	114,518,012 (GRCm39)	nonsense	probably null
R9307:Dync1li1	UTSW	9	114,535,076 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCTGTTAAAAGAAACTGTGGCTTC -3'
(R):5'- GGAATGGCTTTTATAGTCAGCTAAG -3'

Sequencing Primer
(F):5'- AAGAAACTGTGGCTTCTTTTGTTTTG -3'
(R):5'- GTCAGCTAAGATATCTCAATGGAAGC -3'

Posted On

2020-07-13