Incidental Mutation 'R2000:Dync1li1'
ID 225846
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 040010-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.773) question?
Stock # R2000 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 114517899-114552856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 114542631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 264 (F264L)
Ref Sequence ENSEMBL: ENSMUSP00000035366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047404]
AlphaFold Q8R1Q8
Predicted Effect probably benign
Transcript: ENSMUST00000047404
AA Change: F264L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000035366
Gene: ENSMUSG00000032435
AA Change: F264L

DomainStartEndE-ValueType
Pfam:DLIC 43 519 2.7e-258 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (62/63)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf2 T C 2: 73,693,584 (GRCm39) probably null Het
Atrn T C 2: 130,777,508 (GRCm39) Y186H probably damaging Het
Birc6 T C 17: 74,911,614 (GRCm39) V1528A possibly damaging Het
Brpf3 A C 17: 29,040,531 (GRCm39) E984A probably benign Het
Btnl9 T C 11: 49,059,948 (GRCm39) N600S probably benign Het
Camk1d A T 2: 5,366,836 (GRCm39) Y126* probably null Het
Casp8ap2 T A 4: 32,634,874 (GRCm39) L136H probably damaging Het
Cd46 A G 1: 194,760,012 (GRCm39) I280T probably benign Het
Cip2a A T 16: 48,835,332 (GRCm39) Q699L probably damaging Het
Crebbp A T 16: 3,902,116 (GRCm39) H2374Q probably damaging Het
Dock3 A G 9: 106,870,160 (GRCm39) probably benign Het
Dph7 T A 2: 24,861,653 (GRCm39) D355E probably benign Het
Fer1l6 G A 15: 58,474,160 (GRCm39) probably benign Het
Flt3 T C 5: 147,278,048 (GRCm39) D842G probably damaging Het
Fosl1 A G 19: 5,500,383 (GRCm39) probably benign Het
Gabrr2 T A 4: 33,084,400 (GRCm39) I162N probably damaging Het
Gata6 T C 18: 11,054,113 (GRCm39) F14S probably benign Het
Gm15446 T C 5: 110,090,677 (GRCm39) S310P possibly damaging Het
Gmppa A C 1: 75,418,172 (GRCm39) D190A probably damaging Het
Gpr108 C T 17: 57,543,712 (GRCm39) G455S probably benign Het
Gstm1 A G 3: 107,922,127 (GRCm39) F170S probably damaging Het
Gvin-ps6 G A 7: 106,022,438 (GRCm39) S188L probably benign Het
Gzf1 T C 2: 148,526,531 (GRCm39) I334T probably benign Het
Hadh A T 3: 131,038,888 (GRCm39) I156K probably benign Het
Htr5a G A 5: 28,055,887 (GRCm39) V293M possibly damaging Het
Ice1 C T 13: 70,750,546 (GRCm39) V47M possibly damaging Het
Ifnl3 G T 7: 28,222,354 (GRCm39) A32S possibly damaging Het
Itsn2 T A 12: 4,716,176 (GRCm39) Y978* probably null Het
Kif1a G T 1: 92,982,051 (GRCm39) T792N probably damaging Het
Lgals9 T C 11: 78,863,996 (GRCm39) N50D probably benign Het
Lrp2 A G 2: 69,297,434 (GRCm39) Y3176H probably damaging Het
Lvrn A T 18: 47,038,374 (GRCm39) N976I probably benign Het
Magea10 A T X: 71,426,379 (GRCm39) I205K probably benign Het
Myo1c A T 11: 75,561,405 (GRCm39) M820L probably damaging Het
Neb A T 2: 52,102,982 (GRCm39) C4222* probably null Het
Nkain2 T A 10: 32,766,281 (GRCm39) probably benign Het
Or10g6 A G 9: 39,933,985 (GRCm39) I99V probably benign Het
Or3a1b A G 11: 74,012,406 (GRCm39) Y97C probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Parp4 C T 14: 56,851,181 (GRCm39) T728M probably damaging Het
Pnma8a T A 7: 16,694,964 (GRCm39) V273D probably benign Het
Ppp1r9b A G 11: 94,887,446 (GRCm39) E486G probably damaging Het
Pth2 C A 7: 44,831,146 (GRCm39) R98S possibly damaging Het
Ramacl A T 13: 67,056,214 (GRCm39) N69I possibly damaging Het
Rif1 T A 2: 51,971,310 (GRCm39) F263I probably damaging Het
Rnf213 A T 11: 119,326,848 (GRCm39) I1613F probably damaging Het
Rsbn1l G A 5: 21,107,368 (GRCm39) H549Y probably damaging Het
Rtl1 C A 12: 109,560,321 (GRCm39) W506L probably damaging Het
Slc4a4 C T 5: 89,176,206 (GRCm39) P59L probably damaging Het
Smarcad1 A G 6: 65,050,200 (GRCm39) E273G probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Ttf1 T A 2: 28,955,197 (GRCm39) L187Q possibly damaging Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Ufsp1 T C 5: 137,293,166 (GRCm39) probably null Het
Uox A C 3: 146,316,154 (GRCm39) K30Q possibly damaging Het
Ush1c A G 7: 45,870,857 (GRCm39) S327P probably damaging Het
Wwc1 A T 11: 35,767,374 (GRCm39) L419Q probably damaging Het
Xrn1 C T 9: 95,927,616 (GRCm39) Q1463* probably null Het
Yeats2 G A 16: 20,005,141 (GRCm39) A393T probably benign Het
Zfp101 C T 17: 33,600,491 (GRCm39) A422T possibly damaging Het
Other mutations in Dync1li1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTGTTACGTTCTGCTGTCAACAG -3'
(R):5'- TCTCTTCAGAACTGGGCTTG -3'

Sequencing Primer
(F):5'- CTGTCAACAGCTGAAGTGTTTG -3'
(R):5'- CAGAACTGGGCTTGAATAAATCTG -3'
Posted On 2014-08-25