Incidental Mutation 'IGL02100:Dynll1'
ID 279703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dynll1
Ensembl Gene ENSMUSG00000009013
Gene Name dynein light chain LC8-type 1
Synonyms DLC8, Dnclc1, Pin, 8kDa LC
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02100
Quality Score
Status
Chromosome 5
Chromosomal Location 115435129-115438995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 115436852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 58 (V58G)
Ref Sequence ENSEMBL: ENSMUSP00000107720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009157] [ENSMUST00000040421] [ENSMUST00000112090]
AlphaFold P63168
Predicted Effect probably damaging
Transcript: ENSMUST00000009157
AA Change: V58G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000009157
Gene: ENSMUSG00000009013
AA Change: V58G

DomainStartEndE-ValueType
Dynein_light 1 88 1.67e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000040421
SMART Domains Protein: ENSMUSP00000048001
Gene: ENSMUSG00000041733

DomainStartEndE-ValueType
Pfam:Methyltransf_23 13 311 2.2e-8 PFAM
Pfam:Ubie_methyltran 59 326 1.4e-91 PFAM
Pfam:Methyltransf_31 104 305 3.4e-12 PFAM
Pfam:Methyltransf_25 110 240 1.3e-11 PFAM
Pfam:Methyltransf_11 150 244 4e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112090
AA Change: V58G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107720
Gene: ENSMUSG00000009013
AA Change: V58G

DomainStartEndE-ValueType
Pfam:Dynein_light 1 89 5.4e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148916
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144202
Predicted Effect probably benign
Transcript: ENSMUST00000129024
SMART Domains Protein: ENSMUSP00000123308
Gene: ENSMUSG00000041733

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 1 135 3.2e-28 PFAM
Pfam:Methyltransf_25 16 134 3.4e-9 PFAM
Pfam:Methyltransf_11 56 135 7.8e-10 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads to a basal domain, which contains a varying number of accessory intermediate chains. The complex is involved in intracellular transport and motility. The protein described in this record is a light chain and exists as part of this complex but also physically interacts with and inhibits the activity of neuronal nitric oxide synthase. Binding of this protein destabilizes the neuronal nitric oxide synthase dimer, a conformation necessary for activity, and it may regulate numerous biologic processes through its effects on nitric oxide synthase activity. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice carrying a knock-out mutation of this gene exhibit preweaning lethality. Mice homozygous for a gene trap allele exhibit heterotaxia, small or absent lungs and abnormal cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A T 3: 36,136,029 (GRCm39) Q347L probably null Het
Acvr2a T C 2: 48,788,630 (GRCm39) probably benign Het
Ankrd28 T C 14: 31,449,582 (GRCm39) probably benign Het
Atp6v1b1 A G 6: 83,735,426 (GRCm39) Y498C probably damaging Het
Cdh3 G A 8: 107,270,322 (GRCm39) V400I probably benign Het
Chrnb1 G T 11: 69,684,281 (GRCm39) probably benign Het
Col1a2 A G 6: 4,524,177 (GRCm39) probably benign Het
Cyp2j7 A G 4: 96,124,793 (GRCm39) L35P probably damaging Het
Dennd2c G A 3: 103,060,991 (GRCm39) S561N probably damaging Het
Dennd4a A T 9: 64,816,988 (GRCm39) probably benign Het
Dnai4 A G 4: 102,907,346 (GRCm39) C647R probably damaging Het
Eif3a A T 19: 60,755,442 (GRCm39) probably benign Het
Ercc6 T C 14: 32,239,052 (GRCm39) S47P probably benign Het
Fam76b A G 9: 13,755,416 (GRCm39) probably benign Het
Gbp4 T A 5: 105,269,941 (GRCm39) probably benign Het
Gdi2 T C 13: 3,606,373 (GRCm39) F140L probably benign Het
Gm28043 T C 17: 29,910,400 (GRCm39) probably null Het
Gm5117 T A 8: 32,227,412 (GRCm39) noncoding transcript Het
Gstm6 G T 3: 107,849,653 (GRCm39) N85K probably benign Het
Hip1r C T 5: 124,137,006 (GRCm39) probably benign Het
Igf1r T C 7: 67,839,706 (GRCm39) I671T probably benign Het
Insrr T G 3: 87,718,927 (GRCm39) F961C probably damaging Het
Kbtbd8 T C 6: 95,099,663 (GRCm39) Y314H probably damaging Het
Kif26b C A 1: 178,743,512 (GRCm39) L756I probably damaging Het
Lcor G A 19: 41,547,193 (GRCm39) R259Q possibly damaging Het
Mad1l1 T A 5: 140,129,689 (GRCm39) S449C probably damaging Het
Map1a T G 2: 121,133,327 (GRCm39) L1381R probably damaging Het
Mdn1 G T 4: 32,715,708 (GRCm39) V1992L possibly damaging Het
Pigp G A 16: 94,165,626 (GRCm39) Q99* probably null Het
Pip4p2 T C 4: 14,893,536 (GRCm39) I133T probably benign Het
Rgs8 A T 1: 153,568,469 (GRCm39) probably null Het
Rnf170 T A 8: 26,614,012 (GRCm39) L36H probably damaging Het
Rpap1 T C 2: 119,599,807 (GRCm39) S1004G probably benign Het
Rpl10a-ps2 T C 13: 8,990,779 (GRCm39) probably benign Het
Ryr2 T A 13: 11,752,759 (GRCm39) E1854V possibly damaging Het
Scn7a T G 2: 66,505,843 (GRCm39) *1682S probably null Het
Sema3d A G 5: 12,634,958 (GRCm39) T675A probably benign Het
Slc1a2 T C 2: 102,586,434 (GRCm39) F346S probably damaging Het
St14 G T 9: 31,011,426 (GRCm39) probably benign Het
Stard5 T C 7: 83,289,653 (GRCm39) V173A possibly damaging Het
Taf1b A G 12: 24,594,394 (GRCm39) Y309C possibly damaging Het
Tet1 T C 10: 62,648,507 (GRCm39) N1975S possibly damaging Het
Them5 T A 3: 94,251,782 (GRCm39) I131N probably damaging Het
Tnc A C 4: 63,918,398 (GRCm39) V1171G possibly damaging Het
Ttc12 C A 9: 49,351,482 (GRCm39) G672W probably damaging Het
Usp8 T C 2: 126,579,774 (GRCm39) probably benign Het
Utp4 A G 8: 107,624,807 (GRCm39) N92S probably benign Het
Was A T X: 7,956,554 (GRCm39) F38L possibly damaging Het
Other mutations in Dynll1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0522:Dynll1 UTSW 5 115,438,565 (GRCm39) unclassified probably benign
R4396:Dynll1 UTSW 5 115,438,700 (GRCm39) missense probably benign
R9130:Dynll1 UTSW 5 115,438,604 (GRCm39) missense probably benign 0.07
Posted On 2015-04-16