Incidental Mutation 'IGL01143:Dync1li2'
ID51830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dync1li2
Ensembl Gene ENSMUSG00000035770
Gene Namedynein, cytoplasmic 1 light intermediate chain 2
SynonymsLIC2, Dnclic2, Dncli2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.265) question?
Stock #IGL01143
Quality Score
Status
Chromosome8
Chromosomal Location104417680-104443047 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104429453 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 252 (D252G)
Ref Sequence ENSEMBL: ENSMUSP00000045480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041769] [ENSMUST00000212654]
Predicted Effect probably damaging
Transcript: ENSMUST00000041769
AA Change: D252G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045480
Gene: ENSMUSG00000035770
AA Change: D252G

DomainStartEndE-ValueType
Pfam:DLIC 30 491 5.8e-264 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212040
Predicted Effect unknown
Transcript: ENSMUST00000212230
AA Change: D179G
Predicted Effect possibly damaging
Transcript: ENSMUST00000212654
AA Change: D252G

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A G 3: 151,500,229 probably null Het
Adgrv1 A C 13: 81,419,351 D5234E probably benign Het
Bmp7 G T 2: 172,879,482 H267N probably benign Het
Btbd11 A T 10: 85,654,471 probably benign Het
Ccdc113 T C 8: 95,534,260 V30A probably damaging Het
Ccdc185 A T 1: 182,747,852 L424Q probably damaging Het
Cep192 T A 18: 67,804,375 D58E probably damaging Het
Ces1f C T 8: 93,271,830 probably null Het
Chaf1a T A 17: 56,063,336 D600E possibly damaging Het
Cndp2 A G 18: 84,677,317 probably null Het
Dnah11 T A 12: 118,012,740 D2727V probably damaging Het
Ephx2 C T 14: 66,089,522 R408Q probably damaging Het
Fat1 C A 8: 45,035,532 T3427K possibly damaging Het
Gal3st4 A G 5: 138,271,402 M1T probably null Het
Gm5828 T C 1: 16,769,948 noncoding transcript Het
Gm7694 C T 1: 170,302,825 M1I probably null Het
Gpatch1 A G 7: 35,301,572 probably benign Het
Grik1 G T 16: 87,957,600 probably null Het
Gtf2ird2 A G 5: 134,196,553 T161A possibly damaging Het
Hk2 T C 6: 82,729,552 I790V possibly damaging Het
Ints9 G A 14: 65,037,421 V609I probably benign Het
Kcnq4 T G 4: 120,698,623 D585A probably damaging Het
Large2 T C 2: 92,366,339 Y464C probably damaging Het
Lpar6 G A 14: 73,238,637 D13N probably damaging Het
Morn1 T C 4: 155,092,304 Y132H probably damaging Het
Nphp1 C T 2: 127,780,136 V24I probably benign Het
Olfr1141 T C 2: 87,753,934 N20D probably benign Het
Olfr1457 A T 19: 13,095,112 F179I probably damaging Het
Olfr905 G T 9: 38,473,042 M98I possibly damaging Het
Pcdhb13 T C 18: 37,442,637 W23R probably benign Het
Plekhg3 T C 12: 76,564,982 probably null Het
Slx4 T C 16: 3,990,888 K396R probably benign Het
Snx13 A G 12: 35,132,160 D736G probably damaging Het
Spag17 A G 3: 99,939,298 D46G probably benign Het
Spata31 T G 13: 64,920,816 Y259* probably null Het
Synj1 T C 16: 90,951,976 E1064G probably damaging Het
Tom1 A G 8: 75,058,457 T81A probably benign Het
Ttc23l A G 15: 10,530,689 I279T probably damaging Het
Ttc39a T C 4: 109,442,813 probably null Het
Vmn2r108 C A 17: 20,462,465 A826S possibly damaging Het
Zyg11b A T 4: 108,244,994 V510E possibly damaging Het
Other mutations in Dync1li2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Dync1li2 APN 8 104442498 missense possibly damaging 0.95
E0354:Dync1li2 UTSW 8 104425467 missense probably damaging 0.99
R0102:Dync1li2 UTSW 8 104428125 missense probably benign 0.00
R0102:Dync1li2 UTSW 8 104428125 missense probably benign 0.00
R0555:Dync1li2 UTSW 8 104420665 missense probably benign
R0784:Dync1li2 UTSW 8 104442498 missense probably damaging 0.99
R1532:Dync1li2 UTSW 8 104426035 missense probably damaging 1.00
R1632:Dync1li2 UTSW 8 104437491 missense probably damaging 0.99
R2877:Dync1li2 UTSW 8 104429415 missense probably damaging 1.00
R2878:Dync1li2 UTSW 8 104429415 missense probably damaging 1.00
R4272:Dync1li2 UTSW 8 104423143 missense probably damaging 0.96
R4380:Dync1li2 UTSW 8 104428166 missense probably damaging 1.00
R5050:Dync1li2 UTSW 8 104437441 missense probably damaging 1.00
R5218:Dync1li2 UTSW 8 104442547 nonsense probably null
R5501:Dync1li2 UTSW 8 104440472 critical splice donor site probably null
R5628:Dync1li2 UTSW 8 104420592 missense possibly damaging 0.95
R6542:Dync1li2 UTSW 8 104442764 missense probably benign 0.09
R6727:Dync1li2 UTSW 8 104440535 missense probably damaging 0.98
R7384:Dync1li2 UTSW 8 104442543 missense probably benign 0.06
Posted On2013-06-21