Incidental Mutation 'IGL01081:Dync1li1'
ID 51884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dync1li1
Ensembl Gene ENSMUSG00000032435
Gene Name dynein cytoplasmic 1 light intermediate chain 1
Synonyms 1110053F02Rik, LIC-1, Dlic1, Dnclic1
Accession Numbers
Essential gene? Probably essential (E-score: 0.773) question?
Stock # IGL01081
Quality Score
Status
Chromosome 9
Chromosomal Location 114517899-114552856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114549665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 412 (S412T)
Ref Sequence ENSEMBL: ENSMUSP00000035366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047404]
AlphaFold Q8R1Q8
Predicted Effect possibly damaging
Transcript: ENSMUST00000047404
AA Change: S412T

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035366
Gene: ENSMUSG00000032435
AA Change: S412T

DomainStartEndE-ValueType
Pfam:DLIC 43 519 2.7e-258 PFAM
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 A G 9: 26,901,890 (GRCm39) L158P probably damaging Het
Aco1 A G 4: 40,197,576 (GRCm39) Q860R probably benign Het
Actl11 A T 9: 107,806,181 (GRCm39) Q168L possibly damaging Het
Adam26b T C 8: 43,972,975 (GRCm39) I676V probably benign Het
Aldoart2 A C 12: 55,612,920 (GRCm39) I282L probably benign Het
Capns1 G T 7: 29,889,565 (GRCm39) S211R probably benign Het
Cps1 T C 1: 67,245,983 (GRCm39) V1158A probably damaging Het
Cryl1 C T 14: 57,523,821 (GRCm39) probably null Het
Cxcr5 A G 9: 44,425,607 (GRCm39) probably benign Het
Dcaf13 A G 15: 38,982,201 (GRCm39) K56E probably damaging Het
Dlx6 T G 6: 6,867,068 (GRCm39) S85A probably damaging Het
Dsg2 C T 18: 20,722,999 (GRCm39) probably benign Het
Ebf3 C A 7: 136,827,625 (GRCm39) probably benign Het
Fads3 T C 19: 10,030,366 (GRCm39) I168T probably benign Het
Gm10295 G A 7: 71,000,296 (GRCm39) P95S unknown Het
Gm43638 T C 5: 87,634,455 (GRCm39) T51A probably damaging Het
Gm5114 G A 7: 39,060,071 (GRCm39) probably benign Het
Gucy2c G A 6: 136,679,737 (GRCm39) T974M probably damaging Het
Ighv1-19-1 T C 12: 114,672,258 (GRCm39) probably benign Het
Kri1 A T 9: 21,191,723 (GRCm39) L173Q probably damaging Het
Lztfl1 T C 9: 123,531,338 (GRCm39) D210G probably benign Het
Morc2a T A 11: 3,638,149 (GRCm39) N958K probably damaging Het
Msl3l2 G A 10: 55,992,021 (GRCm39) A249T probably benign Het
Nlrp4a A G 7: 26,149,254 (GRCm39) E287G probably benign Het
Nlrp9a A T 7: 26,257,519 (GRCm39) N290I possibly damaging Het
Or2b28 T G 13: 21,531,185 (GRCm39) L29R probably damaging Het
Or4e2 A G 14: 52,688,484 (GRCm39) T205A probably benign Het
Or5al6 C T 2: 85,976,955 (GRCm39) G41D probably benign Het
Pcsk7 A G 9: 45,840,005 (GRCm39) D731G probably benign Het
Plppr5 T A 3: 117,480,298 (GRCm39) probably benign Het
Podxl T C 6: 31,505,639 (GRCm39) T135A possibly damaging Het
Pole T G 5: 110,485,106 (GRCm39) C407G possibly damaging Het
Prl C A 13: 27,249,024 (GRCm39) N224K possibly damaging Het
Prnp A T 2: 131,778,340 (GRCm39) probably benign Het
Proser2 A G 2: 6,105,149 (GRCm39) *472R probably null Het
Rhag T C 17: 41,122,178 (GRCm39) S38P possibly damaging Het
Rnf146 T C 10: 29,223,856 (GRCm39) D10G probably damaging Het
Rps3a1 T C 3: 86,049,085 (GRCm39) D29G probably benign Het
Sv2a A T 3: 96,097,012 (GRCm39) I446F probably benign Het
Tbc1d30 C A 10: 121,103,319 (GRCm39) R571L probably damaging Het
Tfrc T A 16: 32,443,646 (GRCm39) probably null Het
Tnfaip1 G A 11: 78,419,129 (GRCm39) P156S probably damaging Het
Vmn1r226 T C 17: 20,908,166 (GRCm39) S133P probably damaging Het
Wnt9b C T 11: 103,622,836 (GRCm39) R189K probably damaging Het
Ythdc2 A G 18: 44,983,726 (GRCm39) H564R probably benign Het
Zfp442 C A 2: 150,251,267 (GRCm39) E211* probably null Het
Other mutations in Dync1li1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21