Incidental Mutation 'R4422:Dync1li1'
ID 327159
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 041695-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.773) question?
Stock # R4422 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 114517899-114552856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114538377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 245 (T245A)
Ref Sequence ENSEMBL: ENSMUSP00000035366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047404]
AlphaFold Q8R1Q8
Predicted Effect probably damaging
Transcript: ENSMUST00000047404
AA Change: T245A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035366
Gene: ENSMUSG00000032435
AA Change: T245A

DomainStartEndE-ValueType
Pfam:DLIC 43 519 2.7e-258 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215345
Meta Mutation Damage Score 0.7439 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (67/70)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 T C 2: 26,895,412 (GRCm39) S1168P probably benign Het
Adgrf2 T C 17: 43,024,046 (GRCm39) M142V probably benign Het
Akna G T 4: 63,305,330 (GRCm39) Q479K possibly damaging Het
Arhgef9 T G X: 94,144,670 (GRCm39) I131L possibly damaging Het
AW551984 A T 9: 39,511,373 (GRCm39) C111S probably null Het
Bak1 C A 17: 27,240,298 (GRCm39) G130W probably damaging Het
Bank1 T A 3: 135,788,972 (GRCm39) Q441L probably damaging Het
C030034I22Rik T C 17: 69,725,153 (GRCm39) noncoding transcript Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cct7 A G 6: 85,444,127 (GRCm39) R355G probably damaging Het
Cd19 C T 7: 126,012,578 (GRCm39) V272I probably benign Het
Cenpf A G 1: 189,390,547 (GRCm39) L1095S probably damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Chrm3 A T 13: 9,928,591 (GRCm39) Y148* probably null Het
Chrnb3 T C 8: 27,886,761 (GRCm39) V445A possibly damaging Het
Col4a4 T A 1: 82,467,559 (GRCm39) M852L unknown Het
Dhx29 T C 13: 113,083,781 (GRCm39) L612P probably damaging Het
Dlgap2 T C 8: 14,793,463 (GRCm39) probably null Het
Dnah17 T C 11: 117,972,799 (GRCm39) T2045A possibly damaging Het
Epha4 T C 1: 77,488,354 (GRCm39) E42G probably damaging Het
Fam120b C A 17: 15,622,445 (GRCm39) T141K probably damaging Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Gcnt2 T G 13: 41,014,001 (GRCm39) Y57* probably null Het
Gm5409 C T 6: 41,396,519 (GRCm39) noncoding transcript Het
Hip1r A G 5: 124,135,069 (GRCm39) K402E possibly damaging Het
Hlcs G A 16: 93,939,819 (GRCm39) P506L possibly damaging Het
Itih4 T A 14: 30,611,821 (GRCm39) F142I probably damaging Het
Krt78 T C 15: 101,856,375 (GRCm39) T479A probably benign Het
Lamb2 A G 9: 108,360,754 (GRCm39) D518G probably damaging Het
Ldlr G A 9: 21,649,248 (GRCm39) C341Y probably damaging Het
Lsr G T 7: 30,665,422 (GRCm39) N177K probably benign Het
Macf1 G A 4: 123,359,839 (GRCm39) S1815F probably damaging Het
Mms22l T C 4: 24,503,008 (GRCm39) S95P probably damaging Het
Mon2 A G 10: 122,878,887 (GRCm39) L218P probably damaging Het
Nlrp4f C T 13: 65,332,776 (GRCm39) probably null Het
Nrde2 G A 12: 100,112,286 (GRCm39) Q137* probably null Het
Or12e10 C A 2: 87,640,989 (GRCm39) T275K probably damaging Het
Or51l14 G T 7: 103,101,450 (GRCm39) R302L probably damaging Het
Or6z7 G T 7: 6,484,037 (GRCm39) Y39* probably null Het
Phf24 G A 4: 42,934,817 (GRCm39) C151Y probably damaging Het
Pik3r1 T G 13: 101,830,892 (GRCm39) N3T probably benign Het
Plcb2 T C 2: 118,542,484 (GRCm39) K821E probably benign Het
Ppat A G 5: 77,063,061 (GRCm39) W517R probably damaging Het
Prelid2 T C 18: 42,045,461 (GRCm39) T150A probably benign Het
Psg21 A G 7: 18,381,257 (GRCm39) S429P probably damaging Het
Reg4 T C 3: 98,140,360 (GRCm39) Y114H possibly damaging Het
Rsbn1l G T 5: 21,101,544 (GRCm39) H665Q probably damaging Het
Rspo2 T C 15: 43,033,150 (GRCm39) N24S probably benign Het
Ryr2 G T 13: 11,731,952 (GRCm39) C2329* probably null Het
Skint2 T A 4: 112,441,785 (GRCm39) probably benign Het
Spmap2l T C 5: 77,202,383 (GRCm39) I268T possibly damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tmem53 T C 4: 117,123,149 (GRCm39) Y37H probably damaging Het
Tmem59l G A 8: 70,938,749 (GRCm39) R111W probably damaging Het
Tnks2 G A 19: 36,823,053 (GRCm39) V107I probably damaging Het
Tpcn1 T C 5: 120,680,583 (GRCm39) K549R probably damaging Het
Tubgcp4 T A 2: 121,019,882 (GRCm39) L404* probably null Het
Vmn2r86 T C 10: 130,288,845 (GRCm39) I219V possibly damaging Het
Vsig10 T C 5: 117,462,986 (GRCm39) S71P probably benign Het
Wnk1 T C 6: 119,930,856 (GRCm39) N896S probably benign Het
Zfp871 T A 17: 32,993,808 (GRCm39) S437C probably benign Het
Zfp871 C A 17: 32,993,807 (GRCm39) S456I probably benign Het
Zfp873 A G 10: 81,896,708 (GRCm39) T480A probably benign 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
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
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'- AAGGCTCACATGGTTCCATTTC -3'
(R):5'- ACACTTCAGCAGGGTGGTAG -3'

Sequencing Primer
(F):5'- AGGCTCACATGGTTCCATTTCTAAAC -3'
(R):5'- AGTGCATGCTTGTGGTTCTACC -3'
Posted On 2015-07-07