Incidental Mutation 'R8359:Dnali1'
ID645908
Institutional Source Beutler Lab
Gene Symbol Dnali1
Ensembl Gene ENSMUSG00000042707
Gene Namedynein, axonemal, light intermediate polypeptide 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #R8359 (G1)
Quality Score225.009
Status Not validated
Chromosome4
Chromosomal Location125055338-125065703 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 125063667 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 95 (T95S)
Ref Sequence ENSEMBL: ENSMUSP00000047783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036383] [ENSMUST00000052183]
Predicted Effect probably damaging
Transcript: ENSMUST00000036383
AA Change: T95S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047783
Gene: ENSMUSG00000042707
AA Change: T95S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,806,486 V315D probably damaging Het
Adgrf1 A T 17: 43,310,395 I508F probably damaging Het
Atpaf2 T C 11: 60,407,303 D147G probably damaging Het
Brwd1 T C 16: 96,016,209 T1368A probably damaging Het
Cacna1s A T 1: 136,116,061 E1626V probably benign Het
Carm1 G A 9: 21,569,469 V80I possibly damaging Het
Casc4 A T 2: 121,867,151 probably benign Het
Cenpw T A 10: 30,198,488 D71V probably damaging Het
Ckmt1 A T 2: 121,363,050 T364S probably benign Het
Col6a4 T C 9: 106,068,384 S844G probably benign Het
Crybg1 T C 10: 43,992,542 E1380G probably benign Het
Cyp21a1 A G 17: 34,802,131 probably null Het
D430042O09Rik T C 7: 125,868,851 probably null Het
Dhodh A C 8: 109,606,406 D12E probably benign Het
Dynlrb1 A G 2: 155,249,950 N93D probably benign Het
Edem1 C T 6: 108,846,813 A390V probably benign Het
Enthd1 T C 15: 80,474,155 D388G probably benign Het
Fam170a A G 18: 50,281,610 T108A probably damaging Het
Fryl A G 5: 73,075,933 S1531P probably benign Het
Hspbap1 C A 16: 35,824,996 N350K probably benign Het
Htr3b A C 9: 48,947,296 S94R probably damaging Het
Ide A T 19: 37,330,487 V42E Het
Igf2r A G 17: 12,683,861 V2434A probably benign Het
Kif16b G A 2: 142,711,857 A1007V probably benign Het
Mccc1 C T 3: 35,964,344 V614I probably benign Het
Mos A G 4: 3,871,097 Y240H probably damaging Het
Myh11 C T 16: 14,208,231 probably null Het
Nexn T A 3: 152,248,361 D166V probably damaging Het
Olfr328 G T 11: 58,552,203 T12N probably benign Het
Olfr510 T A 7: 108,668,311 N298K probably benign Het
Olfr55 G A 17: 33,176,921 C173Y probably damaging Het
Pkp4 A G 2: 59,350,551 Y1061C probably damaging Het
Pla2g6 T C 15: 79,287,170 D740G probably damaging Het
Pla2r1 T A 2: 60,443,283 I920L probably benign Het
Plekha2 A G 8: 25,088,391 I31T probably damaging Het
Ppp1r16b G T 2: 158,761,375 V407L probably benign Het
Prss50 A G 9: 110,862,302 I225V probably damaging Het
Rmdn2 A T 17: 79,628,151 E231V Het
Sema3c T C 5: 17,653,728 S42P possibly damaging Het
Slc22a20 T C 19: 5,971,526 I483V probably benign Het
Slc30a2 T C 4: 134,349,379 V275A probably damaging Het
Slc6a3 T A 13: 73,544,883 F207L probably benign Het
Slc9a1 A T 4: 133,420,616 Q648H probably damaging Het
Slpi A T 2: 164,356,055 M1K probably null Het
Smc5 A C 19: 23,234,079 S564A possibly damaging Het
Smchd1 A T 17: 71,431,243 F542L probably damaging Het
Sycp1 T A 3: 102,820,593 K901N probably damaging Het
Synpo2l T A 14: 20,666,140 T126S probably benign Het
Upp2 A G 2: 58,777,943 N216S probably benign Het
Wnk1 T C 6: 119,992,447 D349G probably damaging Het
Zfp180 C T 7: 24,104,912 A252V probably benign Het
Zfr2 C T 10: 81,242,819 T295I possibly damaging Het
Zkscan16 C T 4: 58,957,230 T504I possibly damaging Het
Other mutations in Dnali1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02624:Dnali1 APN 4 125058998 missense probably benign 0.05
R0841:Dnali1 UTSW 4 125065547 missense possibly damaging 0.83
R1145:Dnali1 UTSW 4 125065547 missense possibly damaging 0.83
R1145:Dnali1 UTSW 4 125065547 missense possibly damaging 0.83
R2035:Dnali1 UTSW 4 125059110 missense probably damaging 0.97
R4076:Dnali1 UTSW 4 125059470 missense probably damaging 1.00
R5699:Dnali1 UTSW 4 125059050 missense possibly damaging 0.57
R7584:Dnali1 UTSW 4 125065538 missense probably benign 0.17
R8022:Dnali1 UTSW 4 125065530 missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- TTTGTGCTAGAAGGAGGCAG -3'
(R):5'- ACCCAATGTTAAGGTAGGTGTCC -3'

Sequencing Primer
(F):5'- CAGAGAGTGTGTGGTGCTCAC -3'
(R):5'- CCAATGTTAAGGTAGGTGTCCTGAGG -3'
Posted On2020-09-02