Incidental Mutation 'R1217:Odad1'
ID |
99737 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Odad1
|
Ensembl Gene |
ENSMUSG00000040189 |
Gene Name |
outer dynein arm docking complex subunit 1 |
Synonyms |
Ccdc114 |
MMRRC Submission |
039286-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R1217 (G1)
|
Quality Score |
220 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
45573496-45598387 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 45592182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038720]
[ENSMUST00000210867]
|
AlphaFold |
Q3UX62 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038720
|
SMART Domains |
Protein: ENSMUSP00000042772 Gene: ENSMUSG00000040189
Domain | Start | End | E-Value | Type |
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 |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.6%
|
Validation Efficiency |
100% (45/45) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adora2a |
A |
T |
10: 75,169,049 (GRCm39) |
Y171F |
probably damaging |
Het |
Agpat4 |
C |
T |
17: 12,429,203 (GRCm39) |
R152W |
probably damaging |
Het |
Aldh1a2 |
A |
G |
9: 71,188,964 (GRCm39) |
N293D |
possibly damaging |
Het |
Ash2l |
T |
C |
8: 26,312,913 (GRCm39) |
N441S |
probably damaging |
Het |
Asrgl1 |
A |
T |
19: 9,093,864 (GRCm39) |
|
probably null |
Het |
Capn3 |
C |
A |
2: 120,316,902 (GRCm39) |
S277* |
probably null |
Het |
Ccdc168 |
A |
T |
1: 44,096,339 (GRCm39) |
S1586R |
possibly damaging |
Het |
Ccp110 |
T |
C |
7: 118,329,167 (GRCm39) |
|
probably benign |
Het |
Cdh17 |
T |
C |
4: 11,799,676 (GRCm39) |
V491A |
probably benign |
Het |
Cep170b |
T |
C |
12: 112,707,339 (GRCm39) |
S362P |
probably damaging |
Het |
Cfap57 |
A |
G |
4: 118,463,849 (GRCm39) |
S335P |
possibly damaging |
Het |
Cmklr1 |
A |
T |
5: 113,752,107 (GRCm39) |
L298Q |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,466,730 (GRCm39) |
|
probably null |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Cyp2d26 |
A |
G |
15: 82,677,068 (GRCm39) |
|
probably benign |
Het |
Cyth3 |
T |
C |
5: 143,688,575 (GRCm39) |
Y240H |
probably damaging |
Het |
Dhx9 |
G |
A |
1: 153,334,109 (GRCm39) |
T1017I |
probably damaging |
Het |
Edar |
T |
C |
10: 58,464,453 (GRCm39) |
Y62C |
probably damaging |
Het |
Esyt3 |
C |
T |
9: 99,200,097 (GRCm39) |
G699D |
possibly damaging |
Het |
Fgb |
T |
C |
3: 82,950,564 (GRCm39) |
T397A |
probably damaging |
Het |
Foxc1 |
C |
A |
13: 31,992,668 (GRCm39) |
A493E |
unknown |
Het |
Grid1 |
T |
C |
14: 34,542,186 (GRCm39) |
M1T |
probably null |
Het |
Ipo4 |
T |
C |
14: 55,871,816 (GRCm39) |
K113R |
probably damaging |
Het |
Kif21b |
A |
G |
1: 136,080,114 (GRCm39) |
E550G |
probably damaging |
Het |
Krt1 |
T |
C |
15: 101,757,416 (GRCm39) |
K265E |
possibly damaging |
Het |
Lmx1a |
G |
A |
1: 167,618,968 (GRCm39) |
R109H |
probably damaging |
Het |
Mcm5 |
A |
G |
8: 75,852,919 (GRCm39) |
K677R |
probably benign |
Het |
Metap1 |
A |
T |
3: 138,180,791 (GRCm39) |
L130* |
probably null |
Het |
Mrgpra4 |
A |
G |
7: 47,631,085 (GRCm39) |
L172P |
probably benign |
Het |
Mylip |
G |
A |
13: 45,560,178 (GRCm39) |
E205K |
probably damaging |
Het |
Myo3b |
A |
C |
2: 70,161,224 (GRCm39) |
E1128A |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Nlrp4d |
T |
C |
7: 10,098,194 (GRCm39) |
I823V |
probably benign |
Het |
Rec114 |
A |
T |
9: 58,573,103 (GRCm39) |
|
probably benign |
Het |
Rimbp2 |
C |
T |
5: 128,865,351 (GRCm39) |
A666T |
probably benign |
Het |
Siva1 |
C |
T |
12: 112,613,355 (GRCm39) |
Q68* |
probably null |
Het |
Slc22a27 |
T |
A |
19: 7,904,033 (GRCm39) |
I35F |
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,200,100 (GRCm39) |
N228I |
probably damaging |
Het |
St8sia4 |
G |
A |
1: 95,581,464 (GRCm39) |
R93C |
probably damaging |
Het |
Tprg1 |
T |
C |
16: 25,231,593 (GRCm39) |
S190P |
probably damaging |
Het |
Trpc6 |
A |
G |
9: 8,658,287 (GRCm39) |
|
probably null |
Het |
Vmn2r70 |
C |
T |
7: 85,208,269 (GRCm39) |
C736Y |
probably damaging |
Het |
Zfp629 |
C |
T |
7: 127,211,916 (GRCm39) |
|
probably benign |
Het |
Zswim4 |
A |
G |
8: 84,946,601 (GRCm39) |
V685A |
possibly damaging |
Het |
|
Other mutations in Odad1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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'- GAGGAACGCAACTTTGCTGAGTTTAAC -3'
(R):5'- ACATGACATTCACGAACAGACAGATGG -3'
Sequencing Primer
(F):5'- CTTCATCAATGAGCAGAACTCCG -3'
(R):5'- CTAAGGAAGAGCTTCCGGC -3'
|
Posted On |
2014-01-15 |