Incidental Mutation 'IGL02683:Dnal1'
ID303456
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnal1
Ensembl Gene ENSMUSG00000042523
Gene Namedynein, axonemal, light chain 1
SynonymsDnal1, E330027P08Rik, 1700010H15Rik, Dnalc1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02683
Quality Score
Status
Chromosome12
Chromosomal Location84114366-84147498 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 84138354 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 178 (G178D)
Ref Sequence ENSEMBL: ENSMUSP00000121038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046340] [ENSMUST00000123491] [ENSMUST00000136159] [ENSMUST00000140812] [ENSMUST00000156138]
Predicted Effect probably damaging
Transcript: ENSMUST00000046340
AA Change: G139D

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037076
Gene: ENSMUSG00000042523
AA Change: G139D

DomainStartEndE-ValueType
Pfam:LRR_1 32 52 8.1e-2 PFAM
Pfam:LRR_4 54 96 3.4e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123491
AA Change: G178D

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121038
Gene: ENSMUSG00000042523
AA Change: G178D

DomainStartEndE-ValueType
Pfam:LRR_4 93 135 1.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136159
SMART Domains Protein: ENSMUSP00000123497
Gene: ENSMUSG00000042523

DomainStartEndE-ValueType
PDB:1DS9|A 1 98 3e-28 PDB
SCOP:d1h6ta2 11 88 5e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140812
SMART Domains Protein: ENSMUSP00000121131
Gene: ENSMUSG00000042523

DomainStartEndE-ValueType
PDB:1DS9|A 1 55 9e-8 PDB
SCOP:d1dcea3 1 56 2e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143753
Predicted Effect probably benign
Transcript: ENSMUST00000156138
SMART Domains Protein: ENSMUSP00000118584
Gene: ENSMUSG00000042523

DomainStartEndE-ValueType
PDB:1M9L|A 1 50 1e-11 PDB
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. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars T C 8: 111,052,531 probably benign Het
Abhd3 A G 18: 10,658,790 S215P probably damaging Het
Adam20 G A 8: 40,795,584 V244M probably damaging Het
Akr1c21 A C 13: 4,576,313 D112A probably damaging Het
Ano6 A T 15: 95,948,312 Y498F probably damaging Het
Aspscr1 T C 11: 120,701,226 F263S probably damaging Het
Capn11 A G 17: 45,653,591 F100S probably damaging Het
Cd63 T C 10: 128,910,430 C9R probably damaging Het
Cenpj T C 14: 56,552,952 K547E possibly damaging Het
Clasp1 A G 1: 118,539,266 D793G probably benign Het
Cmya5 G A 13: 93,090,997 Q2528* probably null Het
Crybg1 A G 10: 43,989,216 S1422P possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
E2f7 T C 10: 110,782,459 M795T probably benign Het
Glipr1l2 T C 10: 112,083,476 V34A probably benign Het
Gm12800 T C 4: 101,910,354 S267P probably benign Het
Gsdmc2 C T 15: 63,833,412 V151M probably damaging Het
Htr7 T C 19: 35,960,362 T448A probably benign Het
Kcnj5 T C 9: 32,317,780 T41A possibly damaging Het
Kcnt1 T C 2: 25,900,925 M12T possibly damaging Het
Kif1c G A 11: 70,726,452 A871T possibly damaging Het
Map3k10 T C 7: 27,658,937 K571R probably damaging Het
Med23 C A 10: 24,870,717 A45E probably benign Het
Nudt5 C A 2: 5,863,601 S103R probably damaging Het
Olfr1154 T A 2: 87,903,104 T191S possibly damaging Het
Parp3 A G 9: 106,473,185 S369P possibly damaging Het
Plxna4 A T 6: 32,517,606 L25Q probably benign Het
Pon2 A G 6: 5,269,062 V204A probably damaging Het
Ppfia1 A G 7: 144,513,358 M463T probably damaging Het
Ppp1r14d T C 2: 119,218,822 E95G probably damaging Het
Prrc2a A G 17: 35,155,993 V1227A probably benign Het
Rabgap1 T A 2: 37,502,939 W536R probably damaging Het
Slco6d1 A G 1: 98,480,672 N431S probably benign Het
Spen C T 4: 141,471,645 V3224I probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssh2 A G 11: 77,398,256 D88G probably damaging Het
Stat5b T G 11: 100,804,946 K70T probably benign Het
Tex44 A G 1: 86,427,743 D458G probably benign Het
Tut1 T A 19: 8,965,258 C570S probably benign Het
Usp42 T C 5: 143,715,346 E974G possibly damaging Het
Vezf1 A T 11: 88,076,327 Q310L probably benign Het
Vmn2r83 A T 10: 79,491,281 R574S probably benign Het
Zfp664 T C 5: 124,886,322 V260A probably benign Het
Other mutations in Dnal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02811:Dnal1 APN 12 84131392 splice site probably null
IGL03412:Dnal1 APN 12 84135667 start codon destroyed probably null 1.00
R2421:Dnal1 UTSW 12 84136706 nonsense probably null
R4591:Dnal1 UTSW 12 84133853 missense probably benign 0.00
R4667:Dnal1 UTSW 12 84136700 intron probably benign
R5352:Dnal1 UTSW 12 84136548 missense possibly damaging 0.93
R5922:Dnal1 UTSW 12 84126972 missense probably damaging 0.99
R7334:Dnal1 UTSW 12 84127006 missense probably damaging 1.00
R7450:Dnal1 UTSW 12 84124523 missense probably benign 0.11
R7529:Dnal1 UTSW 12 84131343 missense probably benign
R7585:Dnal1 UTSW 12 84124493 missense probably benign 0.00
R8169:Dnal1 UTSW 12 84124556 missense probably benign 0.00
R8365:Dnal1 UTSW 12 84131389 critical splice donor site probably null
Posted On2015-04-16