Incidental Mutation 'R9713:Odad1'
ID 730313
Institutional Source Beutler Lab
Gene Symbol Odad1
Ensembl Gene ENSMUSG00000040189
Gene Name outer dynein arm docking complex subunit 1
Synonyms Ccdc114
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R9713 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45573496-45598387 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 45578562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 45 (V45G)
Ref Sequence ENSEMBL: ENSMUSP00000042772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038720] [ENSMUST00000210039] [ENSMUST00000210602] [ENSMUST00000210867] [ENSMUST00000211367]
AlphaFold Q3UX62
Predicted Effect probably damaging
Transcript: ENSMUST00000038720
AA Change: V45G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042772
Gene: ENSMUSG00000040189
AA Change: V45G

DomainStartEndE-ValueType
coiled coil region 11 94 N/A INTRINSIC
coiled coil region 137 156 N/A INTRINSIC
low complexity region 174 185 N/A INTRINSIC
coiled coil region 195 229 N/A INTRINSIC
coiled coil region 303 380 N/A INTRINSIC
low complexity region 434 445 N/A INTRINSIC
low complexity region 504 519 N/A INTRINSIC
low complexity region 558 588 N/A INTRINSIC
low complexity region 592 604 N/A INTRINSIC
low complexity region 621 656 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000210039
AA Change: V84G

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000210602
AA Change: V84G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210867
AA Change: V45G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211367
AA Change: V84G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik A T 14: 41,820,060 (GRCm39) I107F probably benign Het
Adam20 G A 8: 41,248,490 (GRCm39) R200H probably benign Het
Ahnak GATCTCTAT GAT 19: 8,984,393 (GRCm39) probably benign Het
Arfgef3 A T 10: 18,528,556 (GRCm39) I277N probably damaging Het
Atp11b A T 3: 35,885,560 (GRCm39) Y851F probably damaging Het
Cdhr1 A G 14: 36,801,751 (GRCm39) S731P probably damaging Het
Csf2rb2 A G 15: 78,176,730 (GRCm39) S221P possibly damaging Het
Dact3 A T 7: 16,620,292 (GRCm39) I596F unknown Het
Eya4 A T 10: 23,027,870 (GRCm39) Y287* probably null Het
Folr2 T C 7: 101,489,809 (GRCm39) D153G probably benign Het
Gal3st2b A T 1: 93,866,409 (GRCm39) I37L probably benign Het
H2ac8 G A 13: 23,755,041 (GRCm39) P81L probably damaging Het
Hectd1 A G 12: 51,823,328 (GRCm39) M1027T probably benign Het
Hectd4 A T 5: 121,448,744 (GRCm39) Y364F probably benign Het
Hsd17b2 A T 8: 118,485,342 (GRCm39) probably null Het
Igkv4-74 A G 6: 69,161,993 (GRCm39) Y59H probably damaging Het
Ilvbl T C 10: 78,412,489 (GRCm39) V70A probably benign Het
Klrh1 A G 6: 129,752,359 (GRCm39) V52A possibly damaging Het
Ly9 A C 1: 171,428,756 (GRCm39) I288S probably damaging Het
Muc5b A G 7: 141,416,678 (GRCm39) E3208G probably benign Het
Myo1b G A 1: 51,818,766 (GRCm39) T503I possibly damaging Het
Ntm T A 9: 29,090,327 (GRCm39) I131F possibly damaging Het
Or1p4-ps1 A G 11: 74,208,078 (GRCm39) T76A probably damaging Het
Or51f23c-ps1 T C 7: 102,431,633 (GRCm39) *317Q probably null Het
Or52ae7 C T 7: 103,119,914 (GRCm39) L223F possibly damaging Het
Or5b108 A T 19: 13,168,727 (GRCm39) Y232F probably benign Het
Or8k38 T C 2: 86,488,041 (GRCm39) T254A possibly damaging Het
Pbrm1 T C 14: 30,828,123 (GRCm39) S1317P probably damaging Het
Spaca6 T A 17: 18,058,498 (GRCm39) Y39* probably null Het
Spen G A 4: 141,244,331 (GRCm39) R235C unknown Het
Sycp2l C A 13: 41,326,183 (GRCm39) A746D probably damaging Het
Tgm3 A G 2: 129,867,229 (GRCm39) E158G possibly damaging Het
Trim26 A T 17: 37,168,307 (GRCm39) D324V probably damaging Het
Ttc9b T C 7: 27,353,475 (GRCm39) S42P probably benign Het
Ttn C A 2: 76,682,434 (GRCm39) E952* probably null Het
Ulk4 C A 9: 120,873,862 (GRCm39) E1190* probably null Het
Vmn1r85 A T 7: 12,818,458 (GRCm39) S229T probably damaging Het
Wwc1 C A 11: 35,766,576 (GRCm39) A560S probably benign Het
Zfp787 A G 7: 6,146,059 (GRCm39) probably null Het
Other mutations in Odad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Odad1 APN 7 45,592,080 (GRCm39) missense probably damaging 1.00
IGL01383:Odad1 APN 7 45,589,124 (GRCm39) missense probably damaging 1.00
IGL01826:Odad1 APN 7 45,597,810 (GRCm39) missense possibly damaging 0.62
R0865:Odad1 UTSW 7 45,591,512 (GRCm39) missense probably benign 0.17
R1061:Odad1 UTSW 7 45,591,179 (GRCm39) missense probably damaging 0.96
R1217:Odad1 UTSW 7 45,592,182 (GRCm39) splice site probably benign
R1533:Odad1 UTSW 7 45,592,282 (GRCm39) missense probably benign 0.00
R2863:Odad1 UTSW 7 45,597,736 (GRCm39) missense probably benign 0.04
R3954:Odad1 UTSW 7 45,591,100 (GRCm39) missense probably damaging 1.00
R4774:Odad1 UTSW 7 45,597,804 (GRCm39) missense probably damaging 0.99
R4861:Odad1 UTSW 7 45,592,297 (GRCm39) missense probably damaging 0.98
R4861:Odad1 UTSW 7 45,592,297 (GRCm39) missense probably damaging 0.98
R4952:Odad1 UTSW 7 45,591,615 (GRCm39) missense probably damaging 1.00
R5074:Odad1 UTSW 7 45,578,514 (GRCm39) missense probably benign 0.05
R5187:Odad1 UTSW 7 45,578,540 (GRCm39) missense probably damaging 1.00
R5265:Odad1 UTSW 7 45,596,859 (GRCm39) missense probably damaging 1.00
R5364:Odad1 UTSW 7 45,585,756 (GRCm39) missense probably damaging 0.99
R5377:Odad1 UTSW 7 45,591,506 (GRCm39) nonsense probably null
R6221:Odad1 UTSW 7 45,596,903 (GRCm39) missense probably damaging 1.00
R6246:Odad1 UTSW 7 45,585,788 (GRCm39) missense probably damaging 1.00
R6324:Odad1 UTSW 7 45,591,134 (GRCm39) missense probably damaging 1.00
R6389:Odad1 UTSW 7 45,597,940 (GRCm39) missense probably benign 0.32
R6542:Odad1 UTSW 7 45,597,814 (GRCm39) missense probably benign 0.00
R6593:Odad1 UTSW 7 45,596,808 (GRCm39) missense probably damaging 0.96
R7215:Odad1 UTSW 7 45,586,046 (GRCm39) missense probably damaging 1.00
R7401:Odad1 UTSW 7 45,592,189 (GRCm39) missense probably damaging 1.00
R7431:Odad1 UTSW 7 45,578,670 (GRCm39) missense probably damaging 0.99
R7725:Odad1 UTSW 7 45,597,835 (GRCm39) missense probably damaging 0.98
R7878:Odad1 UTSW 7 45,573,984 (GRCm39) missense possibly damaging 0.91
R8036:Odad1 UTSW 7 45,592,276 (GRCm39) missense probably benign 0.06
R8681:Odad1 UTSW 7 45,591,263 (GRCm39) missense probably damaging 0.96
R8686:Odad1 UTSW 7 45,597,116 (GRCm39) missense probably benign 0.20
R9016:Odad1 UTSW 7 45,585,988 (GRCm39) missense probably damaging 1.00
R9093:Odad1 UTSW 7 45,596,965 (GRCm39) missense possibly damaging 0.53
R9254:Odad1 UTSW 7 45,597,116 (GRCm39) missense probably benign 0.20
R9379:Odad1 UTSW 7 45,597,116 (GRCm39) missense probably benign 0.20
R9410:Odad1 UTSW 7 45,597,821 (GRCm39) missense probably benign 0.00
X0064:Odad1 UTSW 7 45,597,817 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- TGCAGGATCTCTGGAGAGTC -3'
(R):5'- ATCGCCAAGACTTAGAACAGTTAC -3'

Sequencing Primer
(F):5'- CCAGTGCTGGGGTAGAGAAG -3'
(R):5'- TTACTACAAGGTCTGATAGGATGGC -3'
Posted On 2022-10-06