Mutagenetix > Incidental Mutation

Incidental Mutation 'R8703:Dync1li1'

669158

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

068557-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

R8703 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114517899-114552856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 114552329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 490 (P490T)

Ref Sequence

ENSEMBL: ENSMUSP00000035366 (fasta)

Gene Model

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

AlphaFold

Q8R1Q8

Predicted Effect

probably damaging
Transcript: ENSMUST00000047404
AA Change: P490T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035366
Gene: ENSMUSG00000032435
AA Change: P490T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (44/44)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,676,792 (GRCm39)	T2013I	probably damaging	Het
Ak9	A	T	10: 41,201,120 (GRCm39)	N137Y		Het
Apol10b	T	A	15: 77,472,897 (GRCm39)	E52D	probably damaging	Het
Calr3	A	T	8: 73,192,291 (GRCm39)	Y128N	probably damaging	Het
Dnah14	T	A	1: 181,493,576 (GRCm39)	L1669*	probably null	Het
Dppa3	A	T	6: 122,605,737 (GRCm39)	D97V	probably damaging	Het
Eya4	A	G	10: 23,039,340 (GRCm39)	S85P	probably benign	Het
Fpr-rs4	T	A	17: 18,242,332 (GRCm39)	I113N	probably damaging	Het
Fryl	T	C	5: 73,247,997 (GRCm39)	D1040G	probably damaging	Het
Fsip2	A	T	2: 82,821,871 (GRCm39)	D5868V	probably damaging	Het
Gpr75	A	C	11: 30,841,890 (GRCm39)	Q265P	probably damaging	Het
Iqcm	G	T	8: 76,615,271 (GRCm39)	G451C	probably damaging	Het
Lgr5	A	G	10: 115,288,610 (GRCm39)	L678P	probably benign	Het
Mcm9	G	A	10: 53,506,073 (GRCm39)	P67L	probably damaging	Het
Naalad2	A	C	9: 18,290,008 (GRCm39)	Y207D	probably damaging	Het
Nrap	C	T	19: 56,323,703 (GRCm39)	D1325N	probably damaging	Het
Nup133	A	G	8: 124,643,021 (GRCm39)		probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4b1b	T	A	2: 90,126,837 (GRCm39)	I123F	probably damaging	Het
Or8k28	C	A	2: 86,286,244 (GRCm39)	V124L	possibly damaging	Het
Or9i14	G	T	19: 13,792,105 (GRCm39)	P283H	probably damaging	Het
Per2	T	A	1: 91,351,767 (GRCm39)	N913I	possibly damaging	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Reps1	C	T	10: 17,968,990 (GRCm39)	R183C	probably damaging	Het
Rims1	A	T	1: 22,496,137 (GRCm39)	C134S		Het
Rpl10-ps3	A	G	9: 50,256,184 (GRCm39)	S20P	probably benign	Het
Sash1	C	A	10: 8,605,595 (GRCm39)	G932C	probably damaging	Het
Sema4d	T	C	13: 51,854,959 (GRCm39)	Q46R		Het
Sh3d19	A	G	3: 86,014,568 (GRCm39)	E453G	probably damaging	Het
Sirt6	A	G	10: 81,461,548 (GRCm39)		probably benign	Het
Sis	A	T	3: 72,867,657 (GRCm39)	F129L	probably damaging	Het
Skint5	T	A	4: 113,733,207 (GRCm39)	I399F	unknown	Het
Slc22a7	T	C	17: 46,744,951 (GRCm39)	D365G	probably damaging	Het
Slc6a12	A	G	6: 121,324,447 (GRCm39)	M38V	probably benign	Het
Slc9b2	C	A	3: 135,031,924 (GRCm39)	Y261*	probably null	Het
Spata21	A	G	4: 140,832,218 (GRCm39)	I460V	probably benign	Het
Tes	C	G	6: 17,099,788 (GRCm39)	P261R	probably damaging	Het
Tex15	T	C	8: 34,062,724 (GRCm39)	L718P	probably benign	Het
Tmem135	G	A	7: 88,808,170 (GRCm39)	A202V	probably benign	Het
Usp29	T	C	7: 6,964,321 (GRCm39)	F55L	probably benign	Het
Usp9y	A	G	Y: 1,356,317 (GRCm39)	L1128P	probably damaging	Het
Zdhhc5	T	C	2: 84,520,596 (GRCm39)	E527G	probably benign	Het
Zfand4	A	G	6: 116,250,604 (GRCm39)	I11M	probably damaging	Het
Zfp110	T	A	7: 12,582,888 (GRCm39)	I512K	probably benign	Het
Zfp638	T	A	6: 83,954,143 (GRCm39)	F1416Y	probably damaging	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
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
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'- TCCAAGGAGCTGTGTTTTAAGG -3'
(R):5'- CCCCATCGTAGTTCCAACTTGG -3'

Sequencing Primer
(F):5'- GGCCTTAAACTCTGGATGAAGCC -3'
(R):5'- TCCAACTTGGAAGGGCAGG -3'

Posted On

2021-04-30