Incidental Mutation 'IGL01713:Dnal4'
ID104859
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnal4
Ensembl Gene ENSMUSG00000022420
Gene Namedynein, axonemal, light chain 4
SynonymsD15Ertd424e, Dnalc4
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.496) question?
Stock #IGL01713
Quality Score
Status
Chromosome15
Chromosomal Location79761453-79777849 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79762405 bp
ZygosityHeterozygous
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]
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: 131,139,043 I148T possibly damaging Het
Aipl1 A G 11: 72,036,623 C89R probably damaging Het
Apaf1 G A 10: 91,061,832 probably benign Het
Atp7b A G 8: 22,028,573 V83A probably damaging Het
Ccdc180 G T 4: 45,921,025 probably null Het
Crebbp T C 16: 4,128,648 I418V possibly damaging Het
Cyp26b1 G A 6: 84,574,301 P427L probably benign Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Epha3 G A 16: 63,552,562 T926I probably benign Het
Fgg T C 3: 83,008,416 S55P probably benign Het
Gosr1 A T 11: 76,754,756 M66K probably benign Het
Igkv12-89 G T 6: 68,835,312 probably benign Het
Map3k12 T C 15: 102,502,321 E451G probably damaging Het
Phkg1 T C 5: 129,866,873 E179G probably benign Het
Pnpla1 A T 17: 28,881,605 D482V possibly damaging Het
Pramel1 T C 4: 143,397,082 V109A probably benign Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Pus7l T C 15: 94,531,612 T442A probably benign Het
Sall3 A G 18: 80,969,847 S1125P probably damaging Het
Scyl2 A C 10: 89,654,225 I150S probably damaging Het
Sf1 T A 19: 6,374,289 probably null Het
Slco1a6 A G 6: 142,086,567 S611P possibly damaging Het
Vmn2r103 G T 17: 19,794,068 C374F probably damaging Het
Xntrpc T C 7: 102,083,852 probably benign Het
Other mutations in Dnal4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02726:Dnal4 APN 15 79763544 missense probably damaging 1.00
PIT4362001:Dnal4 UTSW 15 79763565 missense probably benign
R0926:Dnal4 UTSW 15 79762025 missense probably benign
R5134:Dnal4 UTSW 15 79763565 missense possibly damaging 0.89
R5431:Dnal4 UTSW 15 79762447 missense probably damaging 1.00
R6248:Dnal4 UTSW 15 79762513 missense probably damaging 0.97
R8040:Dnal4 UTSW 15 79761968 missense probably benign 0.14
R8309:Dnal4 UTSW 15 79762510 missense probably benign 0.39
Posted On2014-01-21