Incidental Mutation 'IGL01713:Dnal4'
ID 104859
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnal4
Ensembl Gene ENSMUSG00000022420
Gene Name dynein, axonemal, light chain 4
Synonyms Dnalc4, D15Ertd424e
Accession Numbers
Essential gene? Possibly essential (E-score: 0.567) question?
Stock # IGL01713
Quality Score
Status
Chromosome 15
Chromosomal Location 79645654-79658649 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79646606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 92 (Y92H)
Ref Sequence ENSEMBL: ENSMUSP00000154848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023055] [ENSMUST00000069877] [ENSMUST00000162713] [ENSMUST00000229644] [ENSMUST00000230645]
AlphaFold Q9DCM4
Predicted Effect probably damaging
Transcript: ENSMUST00000023055
AA Change: Y92H

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023055
Gene: ENSMUSG00000022420
AA Change: Y92H

DomainStartEndE-ValueType
Pfam:Dynein_light 15 105 5.8e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069877
SMART Domains Protein: ENSMUSP00000070325
Gene: ENSMUSG00000022420

DomainStartEndE-ValueType
Dynein_light 15 93 1.24e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162713
AA Change: Y92H

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229644
AA Change: Y64H

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000230645
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 an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 130,740,772 (GRCm39) I148T possibly damaging Het
Aipl1 A G 11: 71,927,449 (GRCm39) C89R probably damaging Het
Apaf1 G A 10: 90,897,694 (GRCm39) probably benign Het
Atp7b A G 8: 22,518,589 (GRCm39) V83A probably damaging Het
Ccdc180 G T 4: 45,921,025 (GRCm39) probably null Het
Crebbp T C 16: 3,946,512 (GRCm39) I418V possibly damaging Het
Cyp26b1 G A 6: 84,551,283 (GRCm39) P427L probably benign Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Epha3 G A 16: 63,372,925 (GRCm39) T926I probably benign Het
Fgg T C 3: 82,915,723 (GRCm39) S55P probably benign Het
Gosr1 A T 11: 76,645,582 (GRCm39) M66K probably benign Het
Igkv12-89 G T 6: 68,812,296 (GRCm39) probably benign Het
Map3k12 T C 15: 102,410,756 (GRCm39) E451G probably damaging Het
Phkg1 T C 5: 129,895,714 (GRCm39) E179G probably benign Het
Pnpla1 A T 17: 29,100,579 (GRCm39) D482V possibly damaging Het
Pramel1 T C 4: 143,123,652 (GRCm39) V109A probably benign Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Pus7l T C 15: 94,429,493 (GRCm39) T442A probably benign Het
Sall3 A G 18: 81,013,062 (GRCm39) S1125P probably damaging Het
Scyl2 A C 10: 89,490,087 (GRCm39) I150S probably damaging Het
Sf1 T A 19: 6,424,319 (GRCm39) probably null Het
Slco1a6 A G 6: 142,032,293 (GRCm39) S611P possibly damaging Het
Vmn2r103 G T 17: 20,014,330 (GRCm39) C374F probably damaging Het
Xntrpc T C 7: 101,733,059 (GRCm39) probably benign Het
Other mutations in Dnal4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02726:Dnal4 APN 15 79,647,745 (GRCm39) missense probably damaging 1.00
PIT4362001:Dnal4 UTSW 15 79,647,766 (GRCm39) missense probably benign
R0926:Dnal4 UTSW 15 79,646,226 (GRCm39) missense probably benign
R5134:Dnal4 UTSW 15 79,647,766 (GRCm39) missense possibly damaging 0.89
R5431:Dnal4 UTSW 15 79,646,648 (GRCm39) missense probably damaging 1.00
R6248:Dnal4 UTSW 15 79,646,714 (GRCm39) missense probably damaging 0.97
R8040:Dnal4 UTSW 15 79,646,169 (GRCm39) missense probably benign 0.14
R8309:Dnal4 UTSW 15 79,646,711 (GRCm39) missense probably benign 0.39
R9380:Dnal4 UTSW 15 79,647,790 (GRCm39) missense possibly damaging 0.91
Posted On 2014-01-21