Incidental Mutation 'R4861:Odad1'
ID 374297
Institutional Source Beutler Lab
Gene Symbol Odad1
Ensembl Gene ENSMUSG00000040189
Gene Name outer dynein arm docking complex subunit 1
Synonyms Ccdc114
MMRRC Submission 042472-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R4861 (G1)
Quality Score 154
Status Not validated
Chromosome 7
Chromosomal Location 45573496-45598387 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45592297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 359 (E359G)
Ref Sequence ENSEMBL: ENSMUSP00000042772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038720] [ENSMUST00000210867]
AlphaFold Q3UX62
Predicted Effect probably damaging
Transcript: ENSMUST00000038720
AA Change: E359G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042772
Gene: ENSMUSG00000040189
AA Change: E359G

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 probably benign
Transcript: ENSMUST00000210867
Meta Mutation Damage Score 0.1076 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 87.7%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,076,249 (GRCm39) R1153H probably damaging Het
Ahcy T C 2: 154,902,436 (GRCm39) E411G probably benign Het
Alpi T A 1: 87,028,191 (GRCm39) I211F probably damaging Het
Arfgef3 G A 10: 18,483,479 (GRCm39) A1415V probably benign Het
Bora T C 14: 99,284,910 (GRCm39) probably null Het
Car3 T C 3: 14,931,956 (GRCm39) V109A probably damaging Het
Cdk13 A T 13: 17,941,171 (GRCm39) V17D probably damaging Het
Cept1 A C 3: 106,413,048 (GRCm39) S226A probably damaging Het
Dbt A T 3: 116,341,727 (GRCm39) I443L probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Farp2 T C 1: 93,533,141 (GRCm39) L633S probably damaging Het
Gm26727 T C 2: 67,263,289 (GRCm39) I79M probably damaging Het
Gm5800 T A 14: 51,953,504 (GRCm39) N37I probably damaging Het
Hapln1 G A 13: 89,749,571 (GRCm39) G39S possibly damaging Het
Ice2 T A 9: 69,322,730 (GRCm39) S408R probably benign Het
Lctl T C 9: 64,027,045 (GRCm39) I131T possibly damaging Het
Ncoa7 T A 10: 30,580,608 (GRCm39) M117L probably benign Het
Npy4r C T 14: 33,868,840 (GRCm39) W149* probably null Het
Nr5a2 A G 1: 136,876,458 (GRCm39) probably null Het
Plg G A 17: 12,614,622 (GRCm39) E301K probably benign Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Rapgef2 T C 3: 78,981,743 (GRCm39) K1084R probably benign Het
Slc41a2 T C 10: 83,152,322 (GRCm39) Q51R probably damaging Het
Slc47a2 A T 11: 61,227,059 (GRCm39) C170S probably benign Het
Slco1b2 A T 6: 141,616,948 (GRCm39) N427I possibly damaging Het
Smc2 G A 4: 52,461,090 (GRCm39) R571H probably benign Het
Sp4 G T 12: 118,264,546 (GRCm39) probably null Het
Tas2r117 T C 6: 132,780,092 (GRCm39) F77L probably benign Het
Tbcd C T 11: 121,492,787 (GRCm39) R875C probably damaging Het
Thumpd2 A G 17: 81,334,230 (GRCm39) S453P probably benign Het
Vars2 G T 17: 35,972,825 (GRCm39) Q13K probably benign 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
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
R9713:Odad1 UTSW 7 45,578,562 (GRCm39) missense probably damaging 0.96
X0064:Odad1 UTSW 7 45,597,817 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CGAGATACACCACCTTCAGG -3'
(R):5'- GACAGGTGCACCCCAGATG -3'

Sequencing Primer
(F):5'- AGGTGAGCAAGGCCCAC -3'
(R):5'- TGGGCTGACAAAAGACAAGG -3'
Posted On 2016-03-01