Mutagenetix > Incidental Mutation

Incidental Mutation 'R7757:Dync1li1'

597624

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

045813-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.764) question?

Stock #

R7757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114517899-114552856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114538345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 234 (H234R)

Ref Sequence

ENSEMBL: ENSMUSP00000035366 (fasta)

Gene Model

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

AlphaFold

Q8R1Q8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047404
AA Change: H234R

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035366
Gene: ENSMUSG00000032435
AA Change: H234R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (70/73)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,236,187 (GRCm39)	M1179I	probably benign	Het
6430550D23Rik	T	C	2: 155,845,351 (GRCm39)	T18A	possibly damaging	Het
Acox2	T	C	14: 8,230,166 (GRCm38)	N659S	probably damaging	Het
Agk	T	C	6: 40,353,212 (GRCm39)	V192A	possibly damaging	Het
Ap3b1	T	A	13: 94,664,666 (GRCm39)		probably null	Het
Bche	T	A	3: 73,608,454 (GRCm39)	D324V	probably damaging	Het
Bsn	A	G	9: 107,991,939 (GRCm39)	I1271T	possibly damaging	Het
Capn12	T	C	7: 28,582,246 (GRCm39)	L120P	probably damaging	Het
Cep290	T	A	10: 100,399,296 (GRCm39)	S2273T	probably benign	Het
Ckap4	T	C	10: 84,364,331 (GRCm39)	E244G	probably damaging	Het
Clcn7	T	C	17: 25,375,796 (GRCm39)	Y545H	probably damaging	Het
Cmya5	T	A	13: 93,234,780 (GRCm39)	T103S	possibly damaging	Het
Cplane1	A	T	15: 8,281,711 (GRCm39)	E2850V	unknown	Het
Cpne9	G	A	6: 113,261,406 (GRCm39)	V121M	possibly damaging	Het
Csmd2	T	A	4: 128,377,249 (GRCm39)	I2043N		Het
Disc1	A	G	8: 125,814,243 (GRCm39)	T36A	probably benign	Het
Disp2	T	C	2: 118,621,391 (GRCm39)	Y708H	probably damaging	Het
Dnah3	A	G	7: 119,670,793 (GRCm39)	V635A	probably benign	Het
Dnah3	A	T	7: 119,570,438 (GRCm39)		probably null	Het
Egfr	T	C	11: 16,839,966 (GRCm39)	V660A	possibly damaging	Het
Epb42	T	C	2: 120,858,200 (GRCm39)	R253G	possibly damaging	Het
Fat2	T	A	11: 55,202,247 (GRCm39)	T276S	probably benign	Het
Fcho2	A	G	13: 98,901,011 (GRCm39)		probably null	Het
Ginm1	A	T	10: 7,655,119 (GRCm39)	I41N	probably damaging	Het
Gm4744	A	G	6: 40,927,367 (GRCm39)		probably benign	Het
Gm49368	C	T	7: 127,711,398 (GRCm39)	R701C	probably damaging	Het
Gpr37	T	A	6: 25,688,207 (GRCm39)	I297F	probably benign	Het
Gprc5a	T	A	6: 135,056,342 (GRCm39)	I263N	possibly damaging	Het
Gys2	A	T	6: 142,400,177 (GRCm39)	S345T	probably benign	Het
Hk2	T	C	6: 82,719,896 (GRCm39)	M255V	possibly damaging	Het
Ibtk	A	C	9: 85,579,290 (GRCm39)	S1202A	possibly damaging	Het
Il23r	T	G	6: 67,400,965 (GRCm39)	D455A	probably benign	Het
Irs2	T	A	8: 11,056,522 (GRCm39)	K637*	probably null	Het
Jak2	T	C	19: 29,260,946 (GRCm39)	V314A	probably benign	Het
Mei1	C	T	15: 81,966,824 (GRCm39)		probably benign	Het
Mill1	T	C	7: 17,996,391 (GRCm39)	M69T	probably benign	Het
Mms22l	T	C	4: 24,598,884 (GRCm39)		probably null	Het
Mup8	C	A	4: 60,220,332 (GRCm39)	Q133H	probably benign	Het
Mup8	T	A	4: 60,220,333 (GRCm39)	Q133L	probably benign	Het
Mycbp2	A	T	14: 103,429,055 (GRCm39)	Y2374N	probably damaging	Het
Nbeal1	A	T	1: 60,296,609 (GRCm39)	K1166N	probably damaging	Het
Nlrc4	T	A	17: 74,755,191 (GRCm39)	R8S	probably benign	Het
Nrcam	C	T	12: 44,596,681 (GRCm39)	Q25*	probably null	Het
Nudt16	A	C	9: 105,008,760 (GRCm39)	M47R	probably damaging	Het
Nup62	T	C	7: 44,478,419 (GRCm39)	S145P	probably benign	Het
Or10d1	A	G	9: 39,483,761 (GRCm39)	W265R	probably benign	Het
Or4c117	T	C	2: 88,955,333 (GRCm39)	I247M	possibly damaging	Het
Osbpl1a	A	T	18: 13,066,657 (GRCm39)	V34D	probably benign	Het
Otogl	T	A	10: 107,712,782 (GRCm39)	N521Y	probably damaging	Het
Pcdhb14	T	A	18: 37,582,887 (GRCm39)	D664E	possibly damaging	Het
Pex5l	T	C	3: 33,136,300 (GRCm39)		probably benign	Het
Pkhd1	A	G	1: 20,632,639 (GRCm39)	L592P	probably damaging	Het
Plxdc2	A	G	2: 16,734,187 (GRCm39)	H480R	probably benign	Het
Rnf216	T	A	5: 143,065,991 (GRCm39)	K532N	probably damaging	Het
Schip1	C	A	3: 68,525,028 (GRCm39)	Q358K	probably damaging	Het
Sdc2	A	T	15: 33,028,233 (GRCm39)	E117V	possibly damaging	Het
Septin11	A	T	5: 93,319,323 (GRCm39)		probably null	Het
Shprh	A	T	10: 11,037,924 (GRCm39)	E420V	probably benign	Het
Ska1	T	A	18: 74,330,044 (GRCm39)	H232L	probably benign	Het
Slc36a4	A	G	9: 15,630,956 (GRCm39)	N25S	possibly damaging	Het
Slitrk3	G	A	3: 72,958,172 (GRCm39)	T200M	probably damaging	Het
Smad2	C	T	18: 76,421,084 (GRCm39)	H138Y	probably benign	Het
Snx21	T	C	2: 164,628,085 (GRCm39)	S34P	probably damaging	Het
Sos2	A	G	12: 69,695,359 (GRCm39)	V126A	probably damaging	Het
Srcap	C	T	7: 127,129,966 (GRCm39)	T596I	probably damaging	Het
Stk31	T	G	6: 49,383,877 (GRCm39)		probably null	Het
Stox1	T	C	10: 62,499,743 (GRCm39)	D939G	probably damaging	Het
Syne2	G	T	12: 76,108,553 (GRCm39)	C979F	possibly damaging	Het
Tanc2	C	A	11: 105,667,684 (GRCm39)	N88K	possibly damaging	Het
Tll2	A	T	19: 41,084,447 (GRCm39)	V677E	probably damaging	Het
Ttn	T	C	2: 76,748,834 (GRCm39)	T4072A	probably benign	Het
Unc13b	CAGAGC	CAGAGCGAGAGC	4: 43,177,341 (GRCm39)		probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unc13b	AGAGCC	AGAGCCCGAGCC	4: 43,177,330 (GRCm39)		probably benign	Het
Vmn2r43	A	T	7: 8,258,253 (GRCm39)	F320Y	possibly damaging	Het
Zscan4f	G	T	7: 11,135,205 (GRCm39)	G204*	probably null	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
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'- GGCTCACATGGTTCCATTTC -3'
(R):5'- AACACTTCAGCAGGGTGGTAG -3'

Sequencing Primer
(F):5'- GGCTCACATGGTTCCATTTCTAAAC -3'
(R):5'- TGGTTCTACCATCCAGAGACCAG -3'

Posted On

2019-11-26