Incidental Mutation 'IGL00987:Dync1li2'
ID28101
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: 0.297) question?
Stock #IGL00987
Quality Score
Status
Chromosome8
Chromosomal Location104417680-104443047 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 104442498 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 34 (S34T)
Ref Sequence ENSEMBL: ENSMUSP00000148372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041769] [ENSMUST00000064576] [ENSMUST00000159713] [ENSMUST00000161520] [ENSMUST00000212148] [ENSMUST00000212654]
Predicted Effect probably benign
Transcript: ENSMUST00000041769
AA Change: S53T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000045480
Gene: ENSMUSG00000035770
AA Change: S53T

DomainStartEndE-ValueType
Pfam:DLIC 30 491 5.8e-264 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064576
SMART Domains Protein: ENSMUSP00000067324
Gene: ENSMUSG00000052616

DomainStartEndE-ValueType
SCOP:d1ee4a_ 2 368 7e-11 SMART
low complexity region 416 428 N/A INTRINSIC
low complexity region 536 545 N/A INTRINSIC
SANT 711 762 7.07e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159713
SMART Domains Protein: ENSMUSP00000124706
Gene: ENSMUSG00000052616

DomainStartEndE-ValueType
SCOP:d1qgra_ 10 335 6e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161520
SMART Domains Protein: ENSMUSP00000125431
Gene: ENSMUSG00000052616

DomainStartEndE-ValueType
SCOP:d1qgra_ 10 336 2e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212040
Predicted Effect possibly damaging
Transcript: ENSMUST00000212148
AA Change: S34T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000212230
Predicted Effect possibly damaging
Transcript: ENSMUST00000212654
AA Change: S53T

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212678
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot9 T C X: 155,295,181 I241T probably benign Het
Atp5g3 T A 2: 73,909,926 R19* probably null Het
Celf4 T C 18: 25,486,950 D420G probably damaging Het
Cideb C A 14: 55,754,560 R179L possibly damaging Het
Cmtr1 G A 17: 29,697,169 R591H probably benign Het
Eri2 A G 7: 119,791,166 Y80H probably damaging Het
Eya2 A G 2: 165,754,481 E304G probably damaging Het
Fam135a A C 1: 24,055,898 L130V probably damaging Het
Fancb A T X: 164,991,598 K410N probably damaging Het
Gabpb2 A C 3: 95,200,191 V191G probably damaging Het
Gfm1 A G 3: 67,438,560 H197R possibly damaging Het
Gm11595 A G 11: 99,772,539 V105A unknown Het
Hectd3 T A 4: 116,999,643 D462E probably damaging Het
Herc1 G T 9: 66,408,052 V1139L probably benign Het
Itgal T C 7: 127,302,011 F190L probably damaging Het
Krt87 G A 15: 101,438,446 H109Y probably benign Het
Lmf2 T C 15: 89,354,568 Y115C probably benign Het
Papolg T A 11: 23,876,377 Y259F possibly damaging Het
Parn T C 16: 13,667,603 I10V probably benign Het
Pdcd11 T A 19: 47,114,550 probably benign Het
Phldb2 T A 16: 45,763,102 Q1003L possibly damaging Het
Pigg T A 5: 108,342,078 F850I probably damaging Het
Pkp4 T C 2: 59,308,357 L317P probably damaging Het
Polr2a T C 11: 69,743,794 probably benign Het
Prdm16 G A 4: 154,341,969 T453M possibly damaging Het
Rnf144b A T 13: 47,207,493 E36D possibly damaging Het
Ryr2 G A 13: 11,735,502 T1961I probably damaging Het
Sash1 T A 10: 8,751,413 K305I probably damaging Het
Tbc1d7 A T 13: 43,159,321 I32N probably damaging Het
Thop1 T C 10: 81,081,695 F623L probably damaging Het
Thsd7b G A 1: 129,613,279 G297R probably damaging Het
Tln1 C A 4: 43,551,297 probably benign Het
Vmn1r183 A G 7: 24,055,224 N151D probably damaging Het
Other mutations in Dync1li2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Dync1li2 APN 8 104429453 missense probably damaging 0.96
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 On2013-04-17