Incidental Mutation 'R8443:Dnai2'
ID 654326
Institutional Source Beutler Lab
Gene Symbol Dnai2
Ensembl Gene ENSMUSG00000034706
Gene Name dynein axonemal intermediate chain 2
Synonyms C030015H18Rik, b2b3405Clo, Dnaic2
MMRRC Submission 067825-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R8443 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 114618234-114648715 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114645275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 570 (K570M)
Ref Sequence ENSEMBL: ENSMUSP00000065787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069325] [ENSMUST00000092469] [ENSMUST00000141762]
AlphaFold A2AC93
Predicted Effect unknown
Transcript: ENSMUST00000069325
AA Change: K570M
SMART Domains Protein: ENSMUSP00000065787
Gene: ENSMUSG00000034706
AA Change: K570M

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: K570M
SMART Domains Protein: ENSMUSP00000090126
Gene: ENSMUSG00000034706
AA Change: K570M

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: ENSMUST00000141762
AA Change: K558M
SMART Domains Protein: ENSMUSP00000114700
Gene: ENSMUSG00000034706
AA Change: K558M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 45,629,449 (GRCm39) V1293M probably damaging Het
Agt A G 8: 125,290,537 (GRCm39) W257R possibly damaging Het
Arhgef11 T A 3: 87,620,406 (GRCm39) N457K probably benign Het
Bcl3 G T 7: 19,554,082 (GRCm39) H95Q probably benign Het
C1d T A 11: 17,213,662 (GRCm39) N64K probably damaging Het
Casc3 C T 11: 98,713,607 (GRCm39) R280C probably damaging Het
Cd300c2 C T 11: 114,891,466 (GRCm39) S136N probably benign Het
Cdh8 A G 8: 99,757,672 (GRCm39) V642A possibly damaging Het
Cep290 A T 10: 100,331,706 (GRCm39) I180F possibly damaging Het
Copz2 A G 11: 96,744,887 (GRCm39) E86G probably damaging Het
Cplane1 A G 15: 8,230,635 (GRCm39) I971V probably benign Het
Cracdl A G 1: 37,652,537 (GRCm39) V1090A probably benign Het
Csf3r A T 4: 125,923,712 (GRCm39) D74V possibly damaging Het
Cyp11b1 T G 15: 74,710,789 (GRCm39) E257A possibly damaging Het
Dlg2 A G 7: 92,024,875 (GRCm39) Q580R probably damaging Het
Dock8 A G 19: 25,133,281 (GRCm39) K1143E probably benign Het
Dxo T C 17: 35,058,099 (GRCm39) S394P probably benign Het
Etl4 A G 2: 20,810,977 (GRCm39) D1388G probably benign Het
F13a1 C A 13: 37,209,692 (GRCm39) R91L probably damaging Het
Fam50b C T 13: 34,930,856 (GRCm39) R111* probably null Het
Fat2 T G 11: 55,202,535 (GRCm39) N180H probably damaging Het
Fitm2 A T 2: 163,311,768 (GRCm39) H148Q probably benign Het
Fjx1 A T 2: 102,281,156 (GRCm39) S260T possibly damaging Het
Fos T C 12: 85,522,466 (GRCm39) L165P probably damaging Het
Gm39115 C A 7: 141,689,710 (GRCm39) C21F unknown Het
Gucy1a1 C T 3: 82,005,000 (GRCm39) C595Y probably damaging Het
Hectd4 G T 5: 121,467,172 (GRCm39) W2478L possibly damaging Het
I830077J02Rik T A 3: 105,836,060 (GRCm39) K9N probably damaging Het
Ift70a1 T C 2: 75,811,519 (GRCm39) D188G probably benign Het
Ireb2 T C 9: 54,811,265 (GRCm39) F723L possibly damaging Het
Itpr1 G A 6: 108,496,309 (GRCm39) V2580I probably damaging Het
Kcnu1 G A 8: 26,382,092 (GRCm39) G481R probably damaging Het
Kdm3b G T 18: 34,926,129 (GRCm39) A90S probably benign Het
Klra8 A G 6: 130,105,056 (GRCm39) V23A probably damaging Het
Lig4 A G 8: 10,023,777 (GRCm39) M1T probably null Het
Lpin3 C T 2: 160,737,273 (GRCm39) P107S probably damaging Het
Lrp1b T A 2: 41,265,867 (GRCm39) K1100* probably null Het
Obscn G A 11: 58,929,700 (GRCm39) H5172Y probably damaging Het
Or10a3m T A 7: 108,313,418 (GRCm39) M286K possibly damaging Het
Or4p20 A G 2: 88,253,745 (GRCm39) I208T probably benign Het
Or5ae1 C T 7: 84,565,787 (GRCm39) H267Y probably benign Het
Or6z1 T A 7: 6,504,734 (GRCm39) T170S probably damaging Het
Or8c14-ps1 A T 9: 38,101,498 (GRCm39) H159L possibly damaging Het
Orc3 A G 4: 34,593,173 (GRCm39) L298P probably damaging Het
Otub1 A G 19: 7,177,360 (GRCm39) F96L probably damaging Het
Pcnx3 A G 19: 5,736,670 (GRCm39) S156P probably benign Het
Pde3b A G 7: 114,126,129 (GRCm39) M788V probably damaging Het
Pias4 A G 10: 80,992,844 (GRCm39) probably null Het
Polg A G 7: 79,114,743 (GRCm39) C73R probably benign Het
Ptbp2 T C 3: 119,541,467 (GRCm39) Y190C probably damaging Het
Rab33b T A 3: 51,401,050 (GRCm39) F175I probably damaging Het
Rfx1 A G 8: 84,806,515 (GRCm39) T108A probably benign Het
Ribc2 A G 15: 85,019,461 (GRCm39) D81G probably benign Het
Rnf213 T G 11: 119,340,149 (GRCm39) M3460R Het
Rsf1 T A 7: 97,266,103 (GRCm39) S86T Het
Rxfp2 C A 5: 149,973,068 (GRCm39) T181N possibly damaging Het
Samm50 G A 15: 84,094,702 (GRCm39) E365K possibly damaging Het
Shld2 A C 14: 33,989,942 (GRCm39) N321K probably benign Het
Slc22a18 T C 7: 143,051,123 (GRCm39) V334A probably damaging Het
Slc23a3 A T 1: 75,110,085 (GRCm39) C97S probably benign Het
Smchd1 T A 17: 71,714,244 (GRCm39) H873L probably benign Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Sphkap T A 1: 83,255,953 (GRCm39) I599F probably benign Het
Stox1 A G 10: 62,501,543 (GRCm39) V339A probably damaging Het
Tlx1 A G 19: 45,142,036 (GRCm39) E220G probably damaging Het
Tmem71 C A 15: 66,413,421 (GRCm39) probably null Het
Tmprss3 T C 17: 31,413,976 (GRCm39) D56G possibly damaging Het
Trabd A G 15: 88,970,107 (GRCm39) R368G probably benign Het
Trf A G 9: 103,094,675 (GRCm39) I461T probably damaging Het
Trpm3 A G 19: 22,676,226 (GRCm39) T133A possibly damaging Het
Trpv3 G A 11: 73,186,209 (GRCm39) V667I possibly damaging Het
Vps13b T A 15: 35,455,246 (GRCm39) N718K probably benign Het
Zdbf2 T C 1: 63,345,166 (GRCm39) S1182P possibly damaging Het
Zfp13 T C 17: 23,795,866 (GRCm39) D235G probably benign Het
Zfp407 T C 18: 84,227,987 (GRCm39) E1874G probably damaging Het
Zfp503 T C 14: 22,036,277 (GRCm39) K213R probably benign Het
Zkscan2 A G 7: 123,084,651 (GRCm39) V491A probably 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
IGL03236:Dnai2 APN 11 114,648,075 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ATTTGAACGTGAAACCCGGC -3'
(R):5'- TGGGAGACGAATTTCTTCAGAAG -3'

Sequencing Primer
(F):5'- GGAAAAGATCCTGGAGGCC -3'
(R):5'- CAGAAGATAGCAGTGAGTCTTTCCTC -3'
Posted On 2020-10-20