Incidental Mutation 'R5274:Dync1li1'
ID 403832
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 042837-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.773) question?
Stock # R5274 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 114517899-114552856 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114544273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 315 (V315A)
Ref Sequence ENSEMBL: ENSMUSP00000035366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047404]
AlphaFold Q8R1Q8
Predicted Effect possibly damaging
Transcript: ENSMUST00000047404
AA Change: V315A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035366
Gene: ENSMUSG00000032435
AA Change: V315A

DomainStartEndE-ValueType
Pfam:DLIC 43 519 2.7e-258 PFAM
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 98.0%
  • 20x: 96.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,092,856 (GRCm39) R155H probably benign Het
Ace T C 11: 105,858,863 (GRCm39) M19T probably benign Het
Agl A G 3: 116,566,135 (GRCm39) L995P probably damaging Het
AY761185 T C 8: 21,433,889 (GRCm39) N90S unknown Het
Brca2 T C 5: 150,463,154 (GRCm39) S973P probably benign Het
Cacna1e T C 1: 154,576,250 (GRCm39) T66A probably damaging Het
Cbarp T C 10: 79,967,649 (GRCm39) S531G possibly damaging Het
Cby2 A G 14: 75,820,666 (GRCm39) V362A probably benign Het
Cd96 G T 16: 45,890,066 (GRCm39) T319K possibly damaging Het
Ceacam23 T C 7: 17,649,642 (GRCm39) probably null Het
Chil5 A C 3: 105,936,169 (GRCm39) F41C probably damaging Het
Col24a1 A C 3: 145,190,433 (GRCm39) E1239D probably benign Het
Dip2b A G 15: 100,109,985 (GRCm39) E1490G possibly damaging Het
Dync2h1 T C 9: 7,116,540 (GRCm39) S99G probably benign Het
Dynlt5 A T 4: 102,859,768 (GRCm39) T103S possibly damaging Het
E2f8 C T 7: 48,516,925 (GRCm39) R818H probably damaging Het
Eomes T C 9: 118,309,597 (GRCm39) V250A probably damaging Het
Esyt3 T C 9: 99,200,350 (GRCm39) T615A probably benign Het
Fbxo38 A T 18: 62,648,140 (GRCm39) D799E probably damaging Het
Fdft1 A G 14: 63,389,792 (GRCm39) F288S probably damaging Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gm4871 C G 5: 144,967,180 (GRCm39) E185Q probably damaging Het
Gm5901 C A 7: 105,026,655 (GRCm39) P141Q probably damaging Het
Herc1 T A 9: 66,306,691 (GRCm39) I933N probably benign Het
Ifih1 T C 2: 62,442,062 (GRCm39) Q385R probably benign Het
Ighmbp2 T C 19: 3,315,518 (GRCm39) E634G probably damaging Het
Klk6 C G 7: 43,478,553 (GRCm39) probably null Het
Kmt2d A G 15: 98,752,111 (GRCm39) probably benign Het
Lig3 T A 11: 82,688,118 (GRCm39) probably null Het
Lrp1b T C 2: 41,234,456 (GRCm39) D310G probably null Het
Mroh6 A G 15: 75,756,849 (GRCm39) V571A possibly damaging Het
Olfm5 A G 7: 103,809,190 (GRCm39) S132P probably damaging Het
Or52n20 T C 7: 104,320,733 (GRCm39) S275P probably damaging Het
Or5p64 A T 7: 107,854,842 (GRCm39) F168I probably benign Het
Pacc1 T C 1: 191,080,665 (GRCm39) V295A probably damaging Het
Patj G C 4: 98,407,218 (GRCm39) S4T probably damaging Het
Pcdhga12 T A 18: 37,899,475 (GRCm39) C102* probably null Het
Pik3ap1 T C 19: 41,270,391 (GRCm39) D766G possibly damaging Het
Plch2 A T 4: 155,083,411 (GRCm39) L408Q probably damaging Het
Pnma2 G T 14: 67,154,209 (GRCm39) R211L probably damaging Het
Prkg2 T A 5: 99,117,850 (GRCm39) H468L probably damaging Het
Rad1 T A 15: 10,488,059 (GRCm39) probably null Het
Rims3 A G 4: 120,748,571 (GRCm39) D264G probably damaging Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Rrm2 T A 12: 24,760,406 (GRCm39) Y75* probably null Het
Sall3 T C 18: 81,013,052 (GRCm39) N1128S probably benign Het
Slc26a5 T C 5: 22,018,899 (GRCm39) T610A possibly damaging Het
Snx29 G T 16: 11,556,268 (GRCm39) E766D probably damaging Het
Sox17 A G 1: 4,562,111 (GRCm39) V298A possibly damaging Het
Ss18 G A 18: 14,774,106 (GRCm39) Q228* probably null Het
Tas2r121 A G 6: 132,677,811 (GRCm39) S54P probably damaging Het
Ttc21b T C 2: 66,066,627 (GRCm39) E342G possibly damaging Het
Ubap2l A G 3: 89,920,037 (GRCm39) Y818H probably damaging Het
Usp15 C A 10: 123,004,256 (GRCm39) R166I probably damaging Het
Vmn1r34 T G 6: 66,614,123 (GRCm39) H205P probably damaging Het
Vmn2r22 A T 6: 123,627,593 (GRCm39) M1K probably null Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zdhhc1 T C 8: 106,210,402 (GRCm39) N5S probably benign Het
Zfp758 T A 17: 22,594,836 (GRCm39) C441S probably benign Het
Zp2 T C 7: 119,737,315 (GRCm39) E291G 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
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
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'- ATTACACACCCTGGATGCTTCC -3'
(R):5'- ACCAAGCCCACATTCCATATTTGG -3'

Sequencing Primer
(F):5'- CATGTCACGCTGAAAATGTGGTCTC -3'
(R):5'- GGTCATCATTTACTGTAACAGCTGAG -3'
Posted On 2016-07-22