Mutagenetix > Incidental Mutation

Incidental Mutation 'R1510:Dync1li1'

167860

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

039557-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.764) question?

Stock #

R1510 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

114517899-114552856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 114518278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 50 (S50A)

Ref Sequence

ENSEMBL: ENSMUSP00000035366 (fasta)

Gene Model

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

AlphaFold

Q8R1Q8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047404
AA Change: S50A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035366
Gene: ENSMUSG00000032435
AA Change: S50A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215345

Meta Mutation Damage Score

0.1103

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,073,181 (GRCm39)	L326S	probably damaging	Het
Adam18	T	A	8: 25,115,847 (GRCm39)	T616S	probably benign	Het
Adam22	T	C	5: 8,202,408 (GRCm39)	K215E	probably benign	Het
Ahi1	T	G	10: 20,835,699 (GRCm39)	S11A	probably benign	Het
Asb18	T	C	1: 89,923,976 (GRCm39)	M96V	possibly damaging	Het
Baz2b	T	C	2: 59,752,553 (GRCm39)	D1149G	probably damaging	Het
C1qtnf3	A	G	15: 10,975,722 (GRCm39)	E176G	probably benign	Het
Cd151	T	A	7: 141,050,280 (GRCm39)	S172T	probably benign	Het
Cdh2	G	T	18: 16,781,651 (GRCm39)	L90I	probably benign	Het
Cdkl3	T	C	11: 51,924,341 (GRCm39)	V55A	possibly damaging	Het
Cfap90	T	A	13: 68,745,596 (GRCm39)	M1K	probably null	Het
Chst8	T	A	7: 34,374,693 (GRCm39)	H382L	probably benign	Het
Cyb5r4	T	C	9: 86,948,696 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,950,209 (GRCm39)	D264G	possibly damaging	Het
Daam1	A	G	12: 72,024,500 (GRCm39)	M814V	probably damaging	Het
Ddx19b	A	G	8: 111,742,285 (GRCm39)	I150T	probably damaging	Het
Fat3	A	T	9: 15,871,351 (GRCm39)	L3680Q	probably damaging	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Gm21286	T	G	4: 60,794,931 (GRCm39)		noncoding transcript	Het
Il6	T	C	5: 30,223,060 (GRCm39)	Y126H	probably damaging	Het
Inhba	G	T	13: 16,201,607 (GRCm39)	V390L	probably damaging	Het
Ino80	C	T	2: 119,280,530 (GRCm39)	R278H	probably damaging	Het
Jade3	T	G	X: 20,384,057 (GRCm39)	N799K	probably benign	Het
Kcnn1	G	A	8: 71,316,714 (GRCm39)		probably benign	Het
Klhl6	T	C	16: 19,765,848 (GRCm39)	T585A	probably damaging	Het
Kmt2d	T	A	15: 98,754,258 (GRCm39)		probably benign	Het
Krt17	C	T	11: 100,148,365 (GRCm39)	E359K	possibly damaging	Het
Lce1b	T	G	3: 92,563,283 (GRCm39)	R83S	unknown	Het
Lck	T	C	4: 129,449,461 (GRCm39)	S290G	possibly damaging	Het
Ltbp3	T	C	19: 5,798,915 (GRCm39)	S544P	probably benign	Het
Lypd6b	T	A	2: 49,824,831 (GRCm39)	S4R	probably damaging	Het
Macf1	T	C	4: 123,328,555 (GRCm39)	D4724G	probably null	Het
Mcoln2	A	G	3: 145,882,365 (GRCm39)	T255A	probably benign	Het
Mcph1	T	A	8: 18,682,703 (GRCm39)		probably null	Het
Mki67	C	A	7: 135,297,900 (GRCm39)	R2378L	probably benign	Het
Mxd1	A	G	6: 86,630,137 (GRCm39)	V27A	possibly damaging	Het
Myo5a	T	C	9: 75,078,833 (GRCm39)	Y864H	probably benign	Het
Ndel1	A	T	11: 68,713,482 (GRCm39)	N318K	possibly damaging	Het
Oasl1	A	G	5: 115,066,167 (GRCm39)	Q95R	probably benign	Het
Or5ac16	A	T	16: 59,022,546 (GRCm39)	M81K	probably damaging	Het
Or5j3	T	C	2: 86,128,715 (GRCm39)	L185P	probably damaging	Het
Or5p57	T	C	7: 107,665,735 (GRCm39)	Y60C	probably damaging	Het
Or6b2b	A	T	1: 92,419,339 (GRCm39)	I46N	probably damaging	Het
Parp10	T	A	15: 76,125,617 (GRCm39)	Q487L	probably damaging	Het
Pcdh10	C	T	3: 45,333,838 (GRCm39)	R51C	probably damaging	Het
Pdpr	A	T	8: 111,851,107 (GRCm39)		probably benign	Het
Pfpl	A	T	19: 12,407,060 (GRCm39)	D437V	probably benign	Het
Pik3c2a	G	A	7: 115,987,280 (GRCm39)	T547I	probably benign	Het
Pkdrej	A	C	15: 85,700,963 (GRCm39)	S1658A	possibly damaging	Het
Pkn3	T	C	2: 29,969,776 (GRCm39)		probably null	Het
Plekhh2	A	G	17: 84,867,004 (GRCm39)		probably null	Het
Plxdc1	A	T	11: 97,823,150 (GRCm39)	C357S	probably damaging	Het
Pnp	A	G	14: 51,188,042 (GRCm39)	T132A	possibly damaging	Het
Prorp	A	T	12: 55,350,997 (GRCm39)	Q102L	probably benign	Het
Rcan2	A	G	17: 44,147,315 (GRCm39)	D51G	probably damaging	Het
Rcn1	T	C	2: 105,219,434 (GRCm39)	N253S	probably damaging	Het
Rreb1	T	A	13: 38,115,860 (GRCm39)	I1073N	probably benign	Het
Scaf4	G	T	16: 90,042,282 (GRCm39)	D686E	unknown	Het
Sfxn5	A	C	6: 85,213,907 (GRCm39)	M221R	probably damaging	Het
Slc38a1	A	G	15: 96,507,741 (GRCm39)	F104L	probably damaging	Het
Slc8a1	A	T	17: 81,955,547 (GRCm39)	V497D	probably damaging	Het
Spryd3	C	A	15: 102,027,396 (GRCm39)	G290C	probably damaging	Het
Stc2	A	T	11: 31,315,418 (GRCm39)	Y140*	probably null	Het
Stfa2	A	T	16: 36,228,673 (GRCm39)	I8K	possibly damaging	Het
Sult3a2	A	T	10: 33,658,026 (GRCm39)	M29K	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Triobp	G	A	15: 78,887,967 (GRCm39)	R1908Q	probably damaging	Het
Trpm2	T	A	10: 77,802,828 (GRCm39)	R7*	probably null	Het
Ttn	T	C	2: 76,782,501 (GRCm39)	I912V	probably benign	Het
Tusc2	T	A	9: 107,442,080 (GRCm39)	V93E	probably damaging	Het
Uhrf2	T	A	19: 30,016,461 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,178,203 (GRCm39)	V60M	probably damaging	Het
Ush2a	A	T	1: 188,380,501 (GRCm39)	D2270V	probably damaging	Het
Vmn2r80	A	G	10: 79,005,553 (GRCm39)	T397A	possibly damaging	Het
Wbp2	A	G	11: 115,977,708 (GRCm39)	V15A	probably benign	Het
Zfp182	T	A	X: 20,896,446 (GRCm39)	R617W	probably damaging	Het
Zfp82	C	A	7: 29,756,047 (GRCm39)	R345L	probably damaging	Het
Zfp85	T	C	13: 67,903,084 (GRCm39)		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
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
R8161:Dync1li1	UTSW	9	114,535,251 (GRCm39)	missense	probably damaging	1.00
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'- CAGAACCTTTGGTAAGGACCGCAC -3'
(R):5'- AATGAGAACGCTGTTCTACTGCCC -3'

Sequencing Primer
(F):5'- GTAAGGACCGCACCCCTC -3'
(R):5'- TCTCTCCCAGAGGAGATGACAG -3'

Posted On

2014-04-13