Incidental Mutation 'R7831:Dnai1'
ID 605603
Institutional Source Beutler Lab
Gene Symbol Dnai1
Ensembl Gene ENSMUSG00000061322
Gene Name dynein axonemal intermediate chain 1
Synonyms b2b1526Clo, Dnaic1, 1110066F04Rik
MMRRC Submission 045885-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.613) question?
Stock # R7831 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 41569775-41638158 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 41614695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102963]
AlphaFold Q8C0M8
Predicted Effect probably null
Transcript: ENSMUST00000102963
SMART Domains Protein: ENSMUSP00000100028
Gene: ENSMUSG00000061322

DomainStartEndE-ValueType
low complexity region 134 158 N/A INTRINSIC
low complexity region 238 261 N/A INTRINSIC
Blast:WD40 319 370 1e-17 BLAST
WD40 374 413 1.5e-3 SMART
WD40 419 465 4.4e-2 SMART
Blast:WD40 493 526 5e-13 BLAST
WD40 530 570 9.3e-9 SMART
WD40 575 612 6e-3 SMART
WD40 623 659 1.4e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (87/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mutant mice exhibit situs inversus, heterotaxia and ciliary dyskinesia including cardiovascular defects and decreased ciliary activity in the trachea, reduced to absent mucociliary clearance, and chronic rhinosinusitis. Hydrocephaly is also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,247,404 (GRCm39) V2384I possibly damaging Het
Acsl1 A G 8: 46,972,043 (GRCm39) D297G probably benign Het
Ap2a1 C A 7: 44,550,436 (GRCm39) R944L probably damaging Het
Apbb1ip A G 2: 22,756,933 (GRCm39) Y398C probably damaging Het
Atp8a2 A T 14: 60,011,202 (GRCm39) V968D probably damaging Het
Becn1 T C 11: 101,181,279 (GRCm39) T341A probably benign Het
Card11 G T 5: 140,859,167 (GRCm39) S1126R possibly damaging Het
Ccdc51 T C 9: 108,921,058 (GRCm39) L315S probably damaging Het
Cdk12 T C 11: 98,140,653 (GRCm39) L1298P unknown Het
Cep170b A T 12: 112,711,234 (GRCm39) D1538V probably benign Het
Cfap52 A T 11: 67,826,782 (GRCm39) F348I possibly damaging Het
Clip1 A T 5: 123,751,342 (GRCm39) M813K Het
Col19a1 G A 1: 24,565,563 (GRCm39) T256I unknown Het
Col6a3 A T 1: 90,724,268 (GRCm39) C2027* probably null Het
Crisp4 A T 1: 18,199,013 (GRCm39) N140K probably benign Het
Crocc2 G T 1: 93,143,195 (GRCm39) A1266S probably benign Het
Cyfip2 G A 11: 46,087,273 (GRCm39) R1206C probably damaging Het
Cyp24a1 T A 2: 170,327,860 (GRCm39) M461L probably damaging Het
Cyp2a5 C T 7: 26,534,940 (GRCm39) T51I possibly damaging Het
Cyp2b19 C T 7: 26,466,565 (GRCm39) H398Y possibly damaging Het
Cyp4a29 G A 4: 115,107,367 (GRCm39) V234I probably benign Het
Dicer1 T G 12: 104,675,059 (GRCm39) K734N probably damaging Het
Entpd3 G A 9: 120,373,025 (GRCm39) G14D probably damaging Het
Entrep3 G A 3: 89,091,520 (GRCm39) probably null Het
Ermp1 T C 19: 29,595,367 (GRCm39) T634A probably benign Het
Evc C T 5: 37,476,427 (GRCm39) G374D probably damaging Het
Fcgbp C A 7: 27,806,404 (GRCm39) T2124K probably damaging Het
Fgf8 G A 19: 45,730,876 (GRCm39) P50S probably benign Het
Fmnl1 C T 11: 103,088,999 (GRCm39) R1074W unknown Het
Galnt18 C T 7: 111,155,665 (GRCm39) V223M possibly damaging Het
Galnt2 A G 8: 125,058,817 (GRCm39) N295S probably benign Het
Grip1 T G 10: 119,854,011 (GRCm39) V600G probably damaging Het
Insm2 T A 12: 55,647,323 (GRCm39) C356S probably damaging Het
Itpr2 T A 6: 146,193,082 (GRCm39) I1672F probably benign Het
Kdm1b T G 13: 47,204,098 (GRCm39) N76K probably benign Het
Khnyn T A 14: 56,125,303 (GRCm39) probably null Het
Kidins220 C T 12: 25,111,230 (GRCm39) A1167V possibly damaging Het
Krt40 T C 11: 99,432,087 (GRCm39) D208G probably benign Het
Lars1 T A 18: 42,350,627 (GRCm39) D894V probably benign Het
Lmx1a A T 1: 167,668,521 (GRCm39) N266I probably benign Het
Mrgprb5 T A 7: 47,817,997 (GRCm39) K246M probably benign Het
Mrpl2 G A 17: 46,959,598 (GRCm39) G176R possibly damaging Het
Muc21 T A 17: 35,929,651 (GRCm39) T1512S unknown Het
Nell1 T A 7: 49,632,548 (GRCm39) F60L possibly damaging Het
Nnt G A 13: 119,506,630 (GRCm39) A453V possibly damaging Het
Opa1 A G 16: 29,467,755 (GRCm39) K940R probably benign Het
Opn5 A C 17: 42,891,510 (GRCm39) I309S probably null Het
Or1af1 C T 2: 37,109,723 (GRCm39) T74I probably damaging Het
Or1r1 A C 11: 73,875,257 (GRCm39) M59R probably damaging Het
Or2ag15 T A 7: 106,340,620 (GRCm39) I174F probably damaging Het
P3h3 T G 6: 124,832,118 (GRCm39) E256A possibly damaging Het
Pald1 G T 10: 61,191,593 (GRCm39) T65K probably damaging Het
Pcnx3 T C 19: 5,735,989 (GRCm39) Y279C probably damaging Het
Pik3c2b G A 1: 132,998,980 (GRCm39) S367N possibly damaging Het
Pik3cb T C 9: 98,970,666 (GRCm39) T342A probably benign Het
Pkd1l3 A T 8: 110,357,990 (GRCm39) E837D possibly damaging Het
Ppp2r2b T A 18: 42,834,597 (GRCm39) Y191F probably benign Het
Ppp4r4 G A 12: 103,557,080 (GRCm39) E439K possibly damaging Het
Ptprk A G 10: 28,444,404 (GRCm39) I946V possibly damaging Het
Ror1 A G 4: 100,298,295 (GRCm39) N556S probably benign Het
Ryr3 C T 2: 112,757,183 (GRCm39) A391T possibly damaging Het
Selp G A 1: 163,972,584 (GRCm39) probably null Het
Setx T C 2: 29,047,120 (GRCm39) L1866S probably damaging Het
Setx T A 2: 29,069,866 (GRCm39) V2557E possibly damaging Het
Slc66a3 T A 12: 17,047,632 (GRCm39) probably null Het
Slit2 A G 5: 48,402,025 (GRCm39) T805A probably benign Het
Sorbs3 T G 14: 70,440,481 (GRCm39) N89T possibly damaging Het
Sorl1 C A 9: 42,001,257 (GRCm39) V248L probably benign Het
Srebf2 T A 15: 82,066,288 (GRCm39) V612E probably damaging Het
Sv2c T A 13: 96,113,200 (GRCm39) Y583F probably damaging Het
Tada1 G T 1: 166,217,442 (GRCm39) R193I probably damaging Het
Tnrc6b C G 15: 80,764,580 (GRCm39) A694G possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttn C T 2: 76,711,425 (GRCm39) G8372D unknown Het
Ube2g2 A G 10: 77,470,576 (GRCm39) T68A Het
Ubl7 T G 9: 57,821,918 (GRCm39) V89G possibly damaging Het
Ush2a T A 1: 188,492,038 (GRCm39) I3109N probably damaging Het
Utp20 T A 10: 88,598,632 (GRCm39) K115* probably null Het
Vmn2r26 T A 6: 124,016,758 (GRCm39) Y407* probably null Het
Yod1 G T 1: 130,646,986 (GRCm39) V288F probably damaging Het
Zbed5 A C 5: 129,930,798 (GRCm39) N249T possibly damaging Het
Zbtb5 T C 4: 44,995,244 (GRCm39) T47A probably damaging Het
Zcchc14 T C 8: 122,331,984 (GRCm39) T460A not run Het
Zfp712 A C 13: 67,200,483 (GRCm39) probably null Het
Zfyve16 A T 13: 92,658,836 (GRCm39) H358Q probably benign Het
Other mutations in Dnai1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02678:Dnai1 APN 4 41,602,917 (GRCm39) missense probably benign 0.03
IGL02825:Dnai1 APN 4 41,625,101 (GRCm39) splice site probably benign
IGL03072:Dnai1 APN 4 41,602,979 (GRCm39) missense probably benign 0.00
H8562:Dnai1 UTSW 4 41,629,833 (GRCm39) missense possibly damaging 0.81
R0114:Dnai1 UTSW 4 41,605,686 (GRCm39) splice site probably benign
R0138:Dnai1 UTSW 4 41,629,814 (GRCm39) missense possibly damaging 0.49
R0153:Dnai1 UTSW 4 41,635,162 (GRCm39) unclassified probably benign
R0465:Dnai1 UTSW 4 41,629,988 (GRCm39) splice site probably null
R0550:Dnai1 UTSW 4 41,596,274 (GRCm39) nonsense probably null
R0555:Dnai1 UTSW 4 41,625,335 (GRCm39) missense possibly damaging 0.64
R0890:Dnai1 UTSW 4 41,604,253 (GRCm39) missense possibly damaging 0.69
R0928:Dnai1 UTSW 4 41,602,566 (GRCm39) missense possibly damaging 0.57
R0944:Dnai1 UTSW 4 41,629,997 (GRCm39) missense probably benign
R1714:Dnai1 UTSW 4 41,632,164 (GRCm39) missense probably benign 0.12
R1902:Dnai1 UTSW 4 41,625,319 (GRCm39) nonsense probably null
R1919:Dnai1 UTSW 4 41,570,020 (GRCm39) critical splice donor site probably null
R1983:Dnai1 UTSW 4 41,603,232 (GRCm39) missense probably benign
R2036:Dnai1 UTSW 4 41,632,225 (GRCm39) missense probably damaging 1.00
R2306:Dnai1 UTSW 4 41,625,239 (GRCm39) missense probably benign
R2925:Dnai1 UTSW 4 41,597,919 (GRCm39) missense probably damaging 1.00
R3404:Dnai1 UTSW 4 41,603,246 (GRCm39) missense probably benign 0.00
R3720:Dnai1 UTSW 4 41,602,615 (GRCm39) missense probably damaging 1.00
R3721:Dnai1 UTSW 4 41,602,615 (GRCm39) missense probably damaging 1.00
R3722:Dnai1 UTSW 4 41,602,615 (GRCm39) missense probably damaging 1.00
R3931:Dnai1 UTSW 4 41,604,229 (GRCm39) missense probably damaging 1.00
R4330:Dnai1 UTSW 4 41,637,966 (GRCm39) missense probably damaging 1.00
R4755:Dnai1 UTSW 4 41,610,269 (GRCm39) missense probably damaging 0.99
R4905:Dnai1 UTSW 4 41,614,269 (GRCm39) missense probably benign 0.05
R4997:Dnai1 UTSW 4 41,597,919 (GRCm39) missense possibly damaging 0.80
R5088:Dnai1 UTSW 4 41,632,251 (GRCm39) missense probably benign 0.02
R5088:Dnai1 UTSW 4 41,597,630 (GRCm39) missense probably benign 0.00
R5970:Dnai1 UTSW 4 41,625,281 (GRCm39) missense probably benign 0.14
R5987:Dnai1 UTSW 4 41,632,391 (GRCm39) missense probably benign 0.03
R6247:Dnai1 UTSW 4 41,605,775 (GRCm39) missense probably benign
R6727:Dnai1 UTSW 4 41,625,308 (GRCm39) missense probably benign
R6874:Dnai1 UTSW 4 41,632,412 (GRCm39) missense probably damaging 1.00
R6914:Dnai1 UTSW 4 41,625,176 (GRCm39) missense probably benign 0.01
R7508:Dnai1 UTSW 4 41,614,323 (GRCm39) missense probably benign 0.01
R7832:Dnai1 UTSW 4 41,605,823 (GRCm39) missense probably benign 0.42
R7985:Dnai1 UTSW 4 41,630,055 (GRCm39) missense probably benign
R8065:Dnai1 UTSW 4 41,614,258 (GRCm39) missense probably damaging 1.00
R8067:Dnai1 UTSW 4 41,614,258 (GRCm39) missense probably damaging 1.00
R8234:Dnai1 UTSW 4 41,625,221 (GRCm39) missense probably benign 0.00
R8906:Dnai1 UTSW 4 41,625,125 (GRCm39) missense probably benign 0.00
R9537:Dnai1 UTSW 4 41,629,790 (GRCm39) critical splice acceptor site probably null
R9723:Dnai1 UTSW 4 41,603,302 (GRCm39) missense possibly damaging 0.95
X0065:Dnai1 UTSW 4 41,629,868 (GRCm39) missense possibly damaging 0.89
Z1176:Dnai1 UTSW 4 41,614,323 (GRCm39) missense probably benign 0.32
Z1177:Dnai1 UTSW 4 41,569,809 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ACCATGGTAGGAGTCTAAGCTAG -3'
(R):5'- CCCATATGAAAGTGGGGTCTTCC -3'

Sequencing Primer
(F):5'- TGTTTCCAGTGTCGACGA -3'
(R):5'- GAGTGTCCAATGACCCTTTTACAGG -3'
Posted On 2019-12-20