Incidental Mutation 'IGL03236:Dnai2'
ID 414058
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnai2
Ensembl Gene ENSMUSG00000034706
Gene Name dynein axonemal intermediate chain 2
Synonyms C030015H18Rik, b2b3405Clo, Dnaic2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # IGL03236
Quality Score
Status
Chromosome 11
Chromosomal Location 114618234-114648715 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 114648075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069325] [ENSMUST00000092469] [ENSMUST00000141762]
AlphaFold A2AC93
Predicted Effect unknown
Transcript: ENSMUST00000069325
AA Change: E617G
SMART Domains Protein: ENSMUSP00000065787
Gene: ENSMUSG00000034706
AA Change: E617G

DomainStartEndE-ValueType
low complexity region 127 146 N/A INTRINSIC
WD40 206 245 2.86e0 SMART
WD40 248 293 3.33e-1 SMART
WD40 353 392 7.92e-3 SMART
WD40 396 436 2.05e1 SMART
WD40 441 480 4.93e1 SMART
low complexity region 519 545 N/A INTRINSIC
low complexity region 559 608 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000092469
AA Change: E617G
SMART Domains Protein: ENSMUSP00000090126
Gene: ENSMUSG00000034706
AA Change: E617G

DomainStartEndE-ValueType
low complexity region 127 146 N/A INTRINSIC
WD40 206 245 2.86e0 SMART
WD40 248 293 3.33e-1 SMART
WD40 353 392 7.92e-3 SMART
WD40 396 436 2.05e1 SMART
WD40 441 480 4.93e1 SMART
low complexity region 519 545 N/A INTRINSIC
low complexity region 559 608 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136403
Predicted Effect probably benign
Transcript: ENSMUST00000141762
SMART Domains Protein: ENSMUSP00000114700
Gene: ENSMUSG00000034706

DomainStartEndE-ValueType
low complexity region 127 146 N/A INTRINSIC
WD40 206 245 2.86e0 SMART
WD40 248 293 3.33e-1 SMART
WD40 353 392 7.92e-3 SMART
WD40 396 436 2.05e1 SMART
low complexity region 458 476 N/A INTRINSIC
low complexity region 507 533 N/A INTRINSIC
low complexity region 548 562 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144872
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and immotile respiratory cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 A G 4: 144,246,486 (GRCm39) T11A probably benign Het
Abca17 A G 17: 24,545,450 (GRCm39) probably benign Het
Aox1 G T 1: 58,349,156 (GRCm39) E641* probably null Het
Arhgef10l G T 4: 140,338,671 (GRCm39) D30E probably damaging Het
Arhgef37 A T 18: 61,656,897 (GRCm39) I56N probably damaging Het
Cwf19l1 T C 19: 44,115,887 (GRCm39) I181V probably benign Het
Elp2 A G 18: 24,755,300 (GRCm39) probably benign Het
Epb41l4a G A 18: 33,943,272 (GRCm39) S541L probably damaging Het
Ibsp A C 5: 104,453,871 (GRCm39) N70H probably benign Het
Ikzf1 A G 11: 11,657,848 (GRCm39) E35G probably damaging Het
Kdm5a T C 6: 120,415,949 (GRCm39) V1623A probably damaging Het
Kpna7 A T 5: 144,922,504 (GRCm39) V499E unknown Het
Krtap4-16 C A 11: 99,741,962 (GRCm39) R146L unknown Het
Map2k5 T A 9: 63,193,674 (GRCm39) probably benign Het
Mfn2 A G 4: 147,966,562 (GRCm39) F543S probably damaging Het
Mical3 A G 6: 120,946,345 (GRCm39) L1052P probably benign Het
Mycbp2 T C 14: 103,536,134 (GRCm39) N272S probably damaging Het
Ndel1 A G 11: 68,732,976 (GRCm39) Y87H probably benign Het
Ndnf G A 6: 65,673,156 (GRCm39) V45M possibly damaging Het
Nr3c1 A G 18: 39,619,444 (GRCm39) I281T probably benign Het
Ntm A G 9: 29,020,802 (GRCm39) V139A probably benign Het
Or5ac23 A C 16: 59,149,200 (GRCm39) V224G probably damaging Het
Pkhd1l1 T G 15: 44,445,222 (GRCm39) V3698G probably damaging Het
Plcb1 A G 2: 135,188,226 (GRCm39) Y773C probably damaging Het
Prkaca T A 8: 84,717,074 (GRCm39) F138Y probably damaging Het
Qser1 T C 2: 104,616,877 (GRCm39) T1312A probably benign Het
Slc47a2 T C 11: 61,204,505 (GRCm39) E282G probably damaging Het
Smchd1 G A 17: 71,698,425 (GRCm39) T1117I possibly damaging Het
Utp6 A G 11: 79,851,567 (GRCm39) probably benign Het
Vmn1r66 T A 7: 10,008,990 (GRCm39) K14N probably damaging Het
Vmn1r71 A T 7: 10,482,211 (GRCm39) V93E probably benign Het
Zfp768 G A 7: 126,943,142 (GRCm39) L329F possibly damaging Het
Other mutations in Dnai2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Dnai2 APN 11 114,642,614 (GRCm39) missense probably benign 0.37
IGL01548:Dnai2 APN 11 114,643,768 (GRCm39) missense probably damaging 1.00
IGL02719:Dnai2 APN 11 114,642,737 (GRCm39) missense probably damaging 1.00
R0096:Dnai2 UTSW 11 114,645,158 (GRCm39) missense probably benign 0.04
R0096:Dnai2 UTSW 11 114,645,158 (GRCm39) missense probably benign 0.04
R0305:Dnai2 UTSW 11 114,643,720 (GRCm39) missense probably benign 0.09
R0472:Dnai2 UTSW 11 114,636,015 (GRCm39) splice site probably benign
R0711:Dnai2 UTSW 11 114,645,158 (GRCm39) missense probably benign 0.04
R1756:Dnai2 UTSW 11 114,641,206 (GRCm39) missense probably benign 0.02
R1861:Dnai2 UTSW 11 114,643,777 (GRCm39) missense possibly damaging 0.56
R1916:Dnai2 UTSW 11 114,623,749 (GRCm39) missense possibly damaging 0.88
R1981:Dnai2 UTSW 11 114,623,755 (GRCm39) missense probably damaging 1.00
R1983:Dnai2 UTSW 11 114,626,682 (GRCm39) splice site probably null
R2430:Dnai2 UTSW 11 114,648,012 (GRCm39) unclassified probably benign
R2510:Dnai2 UTSW 11 114,647,993 (GRCm39) unclassified probably benign
R3001:Dnai2 UTSW 11 114,641,297 (GRCm39) missense probably damaging 1.00
R3002:Dnai2 UTSW 11 114,641,297 (GRCm39) missense probably damaging 1.00
R3113:Dnai2 UTSW 11 114,642,756 (GRCm39) splice site probably null
R3803:Dnai2 UTSW 11 114,629,551 (GRCm39) missense probably benign
R3874:Dnai2 UTSW 11 114,623,781 (GRCm39) missense probably damaging 1.00
R4853:Dnai2 UTSW 11 114,635,917 (GRCm39) missense probably benign 0.03
R5267:Dnai2 UTSW 11 114,631,293 (GRCm39) missense probably benign 0.02
R6008:Dnai2 UTSW 11 114,643,816 (GRCm39) missense probably benign 0.01
R6024:Dnai2 UTSW 11 114,643,734 (GRCm39) missense possibly damaging 0.85
R6819:Dnai2 UTSW 11 114,635,917 (GRCm39) missense probably benign 0.00
R7053:Dnai2 UTSW 11 114,629,521 (GRCm39) missense probably damaging 1.00
R7143:Dnai2 UTSW 11 114,645,076 (GRCm39) missense possibly damaging 0.86
R7208:Dnai2 UTSW 11 114,647,988 (GRCm39) missense unknown
R7275:Dnai2 UTSW 11 114,648,054 (GRCm39) missense unknown
R7463:Dnai2 UTSW 11 114,645,232 (GRCm39) missense probably benign 0.07
R7779:Dnai2 UTSW 11 114,645,235 (GRCm39) missense possibly damaging 0.50
R7899:Dnai2 UTSW 11 114,629,456 (GRCm39) missense probably benign 0.21
R8443:Dnai2 UTSW 11 114,645,275 (GRCm39) missense unknown
R8944:Dnai2 UTSW 11 114,641,302 (GRCm39) missense possibly damaging 0.58
R9081:Dnai2 UTSW 11 114,629,493 (GRCm39) missense probably damaging 0.97
R9182:Dnai2 UTSW 11 114,623,839 (GRCm39) missense probably benign 0.17
R9335:Dnai2 UTSW 11 114,625,489 (GRCm39) missense probably benign 0.01
R9380:Dnai2 UTSW 11 114,635,989 (GRCm39) missense probably benign 0.12
RF012:Dnai2 UTSW 11 114,641,242 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02