Incidental Mutation 'R3720:Dnai1'
ID 258849
Institutional Source Beutler Lab
Gene Symbol Dnai1
Ensembl Gene ENSMUSG00000061322
Gene Name dynein axonemal intermediate chain 1
Synonyms b2b1526Clo, Dnaic1, 1110066F04Rik
MMRRC Submission 040711-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.613) question?
Stock # R3720 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 41569775-41638158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41602615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 113 (R113H)
Ref Sequence ENSEMBL: ENSMUSP00000100028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102963]
AlphaFold Q8C0M8
Predicted Effect probably damaging
Transcript: ENSMUST00000102963
AA Change: R113H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100028
Gene: ENSMUSG00000061322
AA Change: R113H

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 93% (40/43)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Appl1 G A 14: 26,649,801 (GRCm39) T575M probably damaging Het
Atp2c1 A T 9: 105,300,175 (GRCm39) M708K probably damaging Het
C9 A G 15: 6,512,600 (GRCm39) T241A possibly damaging Het
Ccrl2 T C 9: 110,885,432 (GRCm39) D22G probably benign Het
Cd47 A G 16: 49,688,205 (GRCm39) I42V probably benign Het
Cntnap5c T C 17: 58,637,197 (GRCm39) S1025P probably benign Het
Col8a1 T C 16: 57,447,279 (GRCm39) M744V unknown Het
Cstf3 A G 2: 104,483,431 (GRCm39) probably benign Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Fry T C 5: 150,378,037 (GRCm39) S410P probably damaging Het
Glt6d1 ACCC ACCCC 2: 25,685,179 (GRCm39) probably null Het
Gm10717 A G 9: 3,025,532 (GRCm39) Y39C probably benign Het
Hivep1 C T 13: 42,312,077 (GRCm39) T1439I probably benign Het
Iqgap2 T C 13: 95,805,036 (GRCm39) probably null Het
Kbtbd11 T A 8: 15,079,118 (GRCm39) C572* probably null Het
Kif1c T C 11: 70,594,597 (GRCm39) F86L possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Ldb1 C T 19: 46,033,331 (GRCm39) probably benign Het
Lrmda T A 14: 22,077,399 (GRCm39) probably benign Het
Med23 T C 10: 24,767,018 (GRCm39) L369S probably damaging Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Myo1b G T 1: 51,815,505 (GRCm39) H614N possibly damaging Het
Neurl1b C T 17: 26,633,949 (GRCm39) T4M probably damaging Het
Or10al7 T C 17: 38,366,259 (GRCm39) Y66C probably damaging Het
Or5t15 T C 2: 86,681,935 (GRCm39) T36A probably benign Het
Polg G A 7: 79,106,539 (GRCm39) Q163* probably null Het
Pramel12 A G 4: 143,145,949 (GRCm39) T473A probably benign Het
Sdk2 G A 11: 113,691,070 (GRCm39) P1835L probably damaging Het
Slc35a5 A T 16: 44,967,685 (GRCm39) I138N probably damaging Het
Snx31 T C 15: 36,523,704 (GRCm39) probably null Het
Speg A T 1: 75,403,426 (GRCm39) H2590L probably damaging Het
Spink4 T A 4: 40,929,136 (GRCm39) C54S probably damaging Het
Swap70 A G 7: 109,869,254 (GRCm39) E349G probably damaging Het
Sybu A G 15: 44,536,028 (GRCm39) V766A possibly damaging Het
Tns3 G A 11: 8,442,999 (GRCm39) R455W probably damaging Het
Tnxb T A 17: 34,931,938 (GRCm39) V2157E possibly damaging Het
Trak2 A T 1: 58,985,404 (GRCm39) probably null Het
Trav18 C T 14: 54,069,074 (GRCm39) R39C possibly damaging Het
Uroc1 G A 6: 90,323,337 (GRCm39) V352M probably damaging Het
Zfp106 A C 2: 120,365,080 (GRCm39) I442M probably benign Het
Zfp935 G A 13: 62,602,846 (GRCm39) Q98* probably null 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
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
R7831:Dnai1 UTSW 4 41,614,695 (GRCm39) critical splice donor site probably null
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'- ACTAAGGGAGACAGCATTCTGAC -3'
(R):5'- TGAGTTAAGGGTCCAAGCCAG -3'

Sequencing Primer
(F):5'- GGAGACAGCATTCTGACACCAG -3'
(R):5'- TTAAGGGTCCAAGCCAGCTCAG -3'
Posted On 2015-01-23