Incidental Mutation 'IGL02624:Dnali1'
ID 300982
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnali1
Ensembl Gene ENSMUSG00000042707
Gene Name dynein, axonemal, light intermediate polypeptide 1
Synonyms 1700023A09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL02624
Quality Score
Status
Chromosome 4
Chromosomal Location 124949131-124959443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124952791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 244 (Q244R)
Ref Sequence ENSEMBL: ENSMUSP00000047783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030684] [ENSMUST00000036383]
AlphaFold Q8BVN8
Predicted Effect probably benign
Transcript: ENSMUST00000030684
SMART Domains Protein: ENSMUSP00000030684
Gene: ENSMUSG00000028869

DomainStartEndE-ValueType
Pfam:NGP1NT 43 174 1.2e-51 PFAM
SCOP:d1egaa1 178 261 8e-3 SMART
Pfam:FeoB_N 311 398 3.1e-6 PFAM
Pfam:MMR_HSR1 312 432 3.4e-13 PFAM
low complexity region 480 500 N/A INTRINSIC
low complexity region 551 579 N/A INTRINSIC
low complexity region 679 687 N/A INTRINSIC
low complexity region 700 710 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000036383
AA Change: Q244R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000047783
Gene: ENSMUSG00000042707
AA Change: Q244R

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
Pfam:Ax_dynein_light 66 252 1.2e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147550
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 is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930004D18Rik A G 2: 18,032,004 (GRCm39) V38A unknown Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Brk1 T G 6: 113,581,805 (GRCm39) I22M possibly damaging Het
Cd3g A G 9: 44,885,459 (GRCm39) probably null Het
Cep192 T C 18: 68,013,866 (GRCm39) V2422A probably benign Het
Ces2g T C 8: 105,691,380 (GRCm39) V172A probably damaging Het
Clcn2 G T 16: 20,522,098 (GRCm39) S830R probably damaging Het
Cyp26b1 T C 6: 84,561,321 (GRCm39) S114G probably benign Het
Entpd1 A T 19: 40,714,502 (GRCm39) K204* probably null Het
Gm5070 A G 3: 95,318,219 (GRCm39) noncoding transcript Het
Gpsm2 G T 3: 108,589,349 (GRCm39) D596E probably benign Het
Hectd1 C T 12: 51,809,233 (GRCm39) A1743T possibly damaging Het
Kcnq5 T G 1: 21,472,654 (GRCm39) L845F probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrp1 A T 10: 127,408,291 (GRCm39) I1795N probably damaging Het
Lsp1 C T 7: 142,044,288 (GRCm39) probably benign Het
Mcm6 C T 1: 128,277,185 (GRCm39) A213T possibly damaging Het
Mylk G T 16: 34,750,266 (GRCm39) V1202L probably benign Het
Myo5b T C 18: 74,848,010 (GRCm39) Y1083H probably damaging Het
Ncoa5 T A 2: 164,854,981 (GRCm39) D47V probably damaging Het
Npat C T 9: 53,478,110 (GRCm39) T954I probably damaging Het
Or2b28 A G 13: 21,531,682 (GRCm39) T195A probably benign Het
Or5p1 A T 7: 107,916,130 (GRCm39) T10S probably benign Het
Pfkm T C 15: 98,024,276 (GRCm39) I428T probably benign Het
Rai1 T C 11: 60,079,569 (GRCm39) F1211S probably damaging Het
Reln T C 5: 22,308,355 (GRCm39) E338G probably benign Het
Tbx18 T C 9: 87,609,459 (GRCm39) Y192C probably damaging Het
Tex21 T A 12: 76,261,398 (GRCm39) D250V probably damaging Het
Tpo A G 12: 30,150,413 (GRCm39) V489A probably benign Het
Tspo T C 15: 83,455,616 (GRCm39) M1T probably null Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wnk2 C T 13: 49,256,278 (GRCm39) G281D probably damaging Het
Zfhx2 T C 14: 55,304,085 (GRCm39) T1300A probably benign Het
Other mutations in Dnali1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0841:Dnali1 UTSW 4 124,959,340 (GRCm39) missense possibly damaging 0.83
R1145:Dnali1 UTSW 4 124,959,340 (GRCm39) missense possibly damaging 0.83
R1145:Dnali1 UTSW 4 124,959,340 (GRCm39) missense possibly damaging 0.83
R2035:Dnali1 UTSW 4 124,952,903 (GRCm39) missense probably damaging 0.97
R4076:Dnali1 UTSW 4 124,953,263 (GRCm39) missense probably damaging 1.00
R5699:Dnali1 UTSW 4 124,952,843 (GRCm39) missense possibly damaging 0.57
R7584:Dnali1 UTSW 4 124,959,331 (GRCm39) missense probably benign 0.17
R8022:Dnali1 UTSW 4 124,959,323 (GRCm39) missense possibly damaging 0.91
R8359:Dnali1 UTSW 4 124,957,460 (GRCm39) missense probably damaging 1.00
R8843:Dnali1 UTSW 4 124,957,414 (GRCm39) missense probably damaging 1.00
R9644:Dnali1 UTSW 4 124,950,402 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16