Incidental Mutation 'R1145:Dnali1'
ID 165060
Institutional Source Beutler Lab
Gene Symbol Dnali1
Ensembl Gene ENSMUSG00000042707
Gene Name dynein, axonemal, light intermediate polypeptide 1
Synonyms 1700023A09Rik
MMRRC Submission 039218-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R1145 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 124949131-124959443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124959340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 18 (S18G)
Ref Sequence ENSEMBL: ENSMUSP00000047783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036383] [ENSMUST00000052183]
AlphaFold Q8BVN8
Predicted Effect possibly damaging
Transcript: ENSMUST00000036383
AA Change: S18G

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047783
Gene: ENSMUSG00000042707
AA Change: S18G

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
Pfam:Ax_dynein_light 66 252 1.2e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052183
SMART Domains Protein: ENSMUSP00000060721
Gene: ENSMUSG00000050213

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
low complexity region 42 56 N/A INTRINSIC
low complexity region 62 89 N/A INTRINSIC
low complexity region 132 146 N/A INTRINSIC
FHA 267 331 1.52e-14 SMART
low complexity region 370 378 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145733
Meta Mutation Damage Score 0.0896 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 88.4%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T C 16: 56,488,639 (GRCm39) S1257P possibly damaging Het
AC159637.1 C T 12: 93,895,054 (GRCm39) noncoding transcript Het
Agk T C 6: 40,329,372 (GRCm39) probably benign Het
Arhgef5 C A 6: 43,250,022 (GRCm39) Q258K possibly damaging Het
C1s1 C A 6: 124,517,759 (GRCm39) D74Y probably damaging Het
Cpxm2 A G 7: 131,659,377 (GRCm39) S497P probably damaging Het
Ctsj C T 13: 61,150,357 (GRCm39) S214N probably damaging Het
Eif4g3 C T 4: 137,893,129 (GRCm39) T959M probably damaging Het
Eml6 A G 11: 29,727,430 (GRCm39) F1231L probably benign Het
Glp1r T C 17: 31,138,406 (GRCm39) V160A probably benign Het
Gm11143 T G 6: 69,594,392 (GRCm39) V60G unknown Het
Hmcn1 A T 1: 150,555,358 (GRCm39) probably null Het
Inpp5k T C 11: 75,524,285 (GRCm39) probably benign Het
Krtdap A T 7: 30,488,975 (GRCm39) probably benign Het
Ldb2 A G 5: 44,690,016 (GRCm39) L201P probably damaging Het
Loxl4 A T 19: 42,596,994 (GRCm39) probably benign Het
Odad2 G T 18: 7,268,436 (GRCm39) P361Q probably damaging Het
Otud6b T A 4: 14,812,532 (GRCm39) T272S probably benign Het
Pnpla2 T C 7: 141,035,329 (GRCm39) Y44H probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Sel1l3 C T 5: 53,289,169 (GRCm39) R884H probably damaging Het
Slc43a2 T A 11: 75,457,815 (GRCm39) Y363* probably null Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 54,879,857 (GRCm39) probably benign Het
Tap2 C A 17: 34,434,914 (GRCm39) D652E possibly damaging Het
Unc80 T C 1: 66,511,247 (GRCm39) V85A probably damaging Het
Vwa3a T C 7: 120,392,566 (GRCm39) Y802H probably damaging Het
Zc3h4 G A 7: 16,150,838 (GRCm39) R60Q possibly damaging Het
Zfp385a A T 15: 103,226,370 (GRCm39) probably benign Het
Other mutations in Dnali1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02624:Dnali1 APN 4 124,952,791 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- TGACTTTCAGTGGCCGAGCCTAAG -3'
(R):5'- ACGCTAGGGGTCCAGTCTTCTTTAC -3'

Sequencing Primer
(F):5'- GTCCTCTAAGGTCATAGCTAGGC -3'
(R):5'- GGGTCCAGTCTTCTTTACTAAGAAAC -3'
Posted On 2014-03-28