Incidental Mutation 'IGL00661:Dync2li1'
ID 10423
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dync2li1
Ensembl Gene ENSMUSG00000024253
Gene Name dynein cytoplasmic 2 light intermediate chain 1
Synonyms 4933404O11Rik, mD2LIC, LIC3, CGI-60, D2lic
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00661
Quality Score
Status
Chromosome 17
Chromosomal Location 84933924-84963016 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84956668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 276 (D276V)
Ref Sequence ENSEMBL: ENSMUSP00000025101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025101]
AlphaFold Q8K0T2
Predicted Effect possibly damaging
Transcript: ENSMUST00000025101
AA Change: D276V

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025101
Gene: ENSMUSG00000024253
AA Change: D276V

DomainStartEndE-ValueType
Pfam:DLIC 2 179 3.3e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for disruptions in this allele die before embryonic day 11.5. They display neural tube defects in addition to a variety developmental patterning abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,430,263 (GRCm39) V242A possibly damaging Het
Antxr2 T C 5: 98,152,155 (GRCm39) D152G probably benign Het
Blmh A T 11: 76,856,758 (GRCm39) K118* probably null Het
Bnip3 G A 7: 138,499,801 (GRCm39) P62L probably damaging Het
Catsperb A T 12: 101,554,357 (GRCm39) T684S probably damaging Het
Chd3 C A 11: 69,248,209 (GRCm39) K894N possibly damaging Het
Chkb T A 15: 89,311,794 (GRCm39) R133S probably benign Het
Dennd5a T C 7: 109,507,579 (GRCm39) N803S probably benign Het
Erap1 T C 13: 74,822,908 (GRCm39) probably benign Het
Hgsnat C T 8: 26,462,965 (GRCm39) V70M probably benign Het
Leprot T C 4: 101,509,673 (GRCm39) probably null Het
Lhcgr G A 17: 89,057,546 (GRCm39) A315V probably benign Het
Lrrn4 C T 2: 132,712,588 (GRCm39) V412I probably benign Het
Macrod2 G A 2: 140,261,824 (GRCm39) probably null Het
Mmaa G A 8: 80,008,199 (GRCm39) R13C probably damaging Het
Plpp4 T A 7: 128,918,023 (GRCm39) I66N probably damaging Het
Prl4a1 T C 13: 28,205,359 (GRCm39) V108A probably benign Het
Prss1 G T 6: 41,439,553 (GRCm39) K95N possibly damaging Het
Rasa2 C T 9: 96,459,606 (GRCm39) probably benign Het
Relb A G 7: 19,350,336 (GRCm39) V208A possibly damaging Het
Sema3d T C 5: 12,555,806 (GRCm39) S178P probably damaging Het
Slc18a1 A T 8: 69,526,383 (GRCm39) W102R probably benign Het
Slc39a8 A C 3: 135,563,873 (GRCm39) K239N probably benign Het
Stap1 A G 5: 86,229,132 (GRCm39) H100R probably benign Het
Suz12 T A 11: 79,889,918 (GRCm39) V143E probably damaging Het
Tmf1 A G 6: 97,153,455 (GRCm39) V206A probably benign Het
Trim16 T A 11: 62,728,058 (GRCm39) probably benign Het
Ube2b C T 11: 51,891,119 (GRCm39) probably null Het
Vmn1r223 T C 13: 23,434,254 (GRCm39) S283P probably damaging Het
Wrn T A 8: 33,809,173 (GRCm39) probably benign Het
Other mutations in Dync2li1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Dync2li1 APN 17 84,952,154 (GRCm39) missense possibly damaging 0.86
IGL01450:Dync2li1 APN 17 84,940,984 (GRCm39) missense possibly damaging 0.53
IGL01610:Dync2li1 APN 17 84,935,742 (GRCm39) missense probably damaging 1.00
R0387:Dync2li1 UTSW 17 84,962,768 (GRCm39) missense possibly damaging 0.69
R0883:Dync2li1 UTSW 17 84,956,699 (GRCm39) missense probably benign 0.01
R1499:Dync2li1 UTSW 17 84,954,667 (GRCm39) splice site probably benign
R1823:Dync2li1 UTSW 17 84,957,225 (GRCm39) missense probably damaging 0.98
R2164:Dync2li1 UTSW 17 84,943,702 (GRCm39) missense probably damaging 1.00
R2394:Dync2li1 UTSW 17 84,952,175 (GRCm39) missense possibly damaging 0.94
R2443:Dync2li1 UTSW 17 84,955,093 (GRCm39) missense probably benign 0.30
R3901:Dync2li1 UTSW 17 84,939,070 (GRCm39) missense probably damaging 1.00
R4151:Dync2li1 UTSW 17 84,935,763 (GRCm39) missense probably benign 0.00
R4934:Dync2li1 UTSW 17 84,956,683 (GRCm39) missense probably benign
R4960:Dync2li1 UTSW 17 84,940,969 (GRCm39) missense probably benign 0.07
R5340:Dync2li1 UTSW 17 84,957,130 (GRCm39) splice site probably null
R5841:Dync2li1 UTSW 17 84,940,990 (GRCm39) missense probably damaging 1.00
R6230:Dync2li1 UTSW 17 84,955,078 (GRCm39) missense probably damaging 0.97
R7331:Dync2li1 UTSW 17 84,955,086 (GRCm39) nonsense probably null
R7447:Dync2li1 UTSW 17 84,955,141 (GRCm39) missense possibly damaging 0.77
R8492:Dync2li1 UTSW 17 84,957,134 (GRCm39) splice site probably null
R8827:Dync2li1 UTSW 17 84,955,079 (GRCm39) missense possibly damaging 0.83
R9228:Dync2li1 UTSW 17 84,957,137 (GRCm39) missense probably benign 0.00
R9231:Dync2li1 UTSW 17 84,935,819 (GRCm39) missense probably null 0.19
Posted On 2012-12-06