Incidental Mutation 'IGL01383:Odad1'
| ID |
78949 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Odad1
|
| Ensembl Gene |
ENSMUSG00000040189 |
| Gene Name |
outer dynein arm docking complex subunit 1 |
| Synonyms |
Ccdc114 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL01383
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45573496-45598387 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45589124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 179
(S179P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038720]
[ENSMUST00000210039]
[ENSMUST00000210867]
|
| AlphaFold |
Q3UX62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038720
AA Change: S179P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042772
Gene: ENSMUSG00000040189
AA Change: S179P
| 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: ENSMUST00000210039
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210867
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555G01Rik |
C |
A |
14: 5,051,570 (GRCm38) |
|
probably null |
Het |
| Abca9 |
A |
C |
11: 110,004,119 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,333,464 (GRCm39) |
M227K |
probably benign |
Het |
| Asb5 |
T |
A |
8: 55,003,544 (GRCm39) |
L22H |
probably damaging |
Het |
| Atrx |
T |
C |
X: 104,845,681 (GRCm39) |
D2309G |
probably damaging |
Het |
| Cand1 |
T |
A |
10: 119,044,072 (GRCm39) |
T1074S |
probably damaging |
Het |
| Cep97 |
T |
C |
16: 55,731,970 (GRCm39) |
E534G |
probably damaging |
Het |
| Cftr |
C |
A |
6: 18,226,040 (GRCm39) |
N329K |
probably benign |
Het |
| Clec7a |
T |
C |
6: 129,449,603 (GRCm39) |
T16A |
probably damaging |
Het |
| Col1a1 |
G |
A |
11: 94,836,351 (GRCm39) |
R674H |
probably damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,181,243 (GRCm39) |
S50G |
possibly damaging |
Het |
| Eepd1 |
A |
G |
9: 25,393,778 (GRCm39) |
D14G |
probably damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Grin1 |
C |
A |
2: 25,186,979 (GRCm39) |
R694L |
possibly damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,298,672 (GRCm39) |
I151T |
probably damaging |
Het |
| Havcr2 |
T |
C |
11: 46,360,375 (GRCm39) |
S152P |
probably damaging |
Het |
| Hvcn1 |
T |
C |
5: 122,375,766 (GRCm39) |
V15A |
probably damaging |
Het |
| Iqca1l |
A |
T |
5: 24,753,292 (GRCm39) |
N453K |
probably benign |
Het |
| Map3k10 |
C |
T |
7: 27,357,424 (GRCm39) |
V785M |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,195,763 (GRCm39) |
N667S |
probably benign |
Het |
| Mup3 |
A |
C |
4: 62,004,196 (GRCm39) |
Y106D |
probably damaging |
Het |
| Mypn |
G |
T |
10: 62,971,576 (GRCm39) |
N821K |
probably damaging |
Het |
| Or2y1c |
T |
A |
11: 49,361,880 (GRCm39) |
W301R |
probably benign |
Het |
| Or52b4 |
A |
G |
7: 102,184,140 (GRCm39) |
Y62C |
probably benign |
Het |
| Or5ac25 |
A |
T |
16: 59,182,316 (GRCm39) |
N88K |
probably benign |
Het |
| Or5i1 |
A |
G |
2: 87,613,217 (GRCm39) |
D111G |
possibly damaging |
Het |
| Pcdhb10 |
A |
T |
18: 37,546,328 (GRCm39) |
H468L |
probably benign |
Het |
| Pramel27 |
T |
G |
4: 143,573,102 (GRCm39) |
|
probably benign |
Het |
| Prp2 |
C |
A |
6: 132,576,841 (GRCm39) |
P43T |
unknown |
Het |
| Psg26 |
A |
G |
7: 18,214,179 (GRCm39) |
V161A |
possibly damaging |
Het |
| Rab17 |
T |
G |
1: 90,887,815 (GRCm39) |
D115A |
probably damaging |
Het |
| Rrp1b |
T |
C |
17: 32,277,552 (GRCm39) |
F611L |
probably damaging |
Het |
| Skor1 |
T |
A |
9: 63,053,838 (GRCm39) |
T44S |
probably benign |
Het |
| Spaca5 |
T |
C |
X: 20,934,725 (GRCm39) |
|
probably benign |
Het |
| Tatdn3 |
G |
A |
1: 190,787,578 (GRCm39) |
|
probably benign |
Het |
| Tbk1 |
T |
C |
10: 121,412,184 (GRCm39) |
D118G |
probably damaging |
Het |
| Tnfsf13b |
T |
C |
8: 10,081,528 (GRCm39) |
F230S |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,605,083 (GRCm39) |
S73P |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,761,383 (GRCm39) |
V658A |
possibly damaging |
Het |
| Vmn2r116 |
C |
T |
17: 23,620,575 (GRCm39) |
L770F |
probably damaging |
Het |
| Wwp2 |
T |
A |
8: 108,259,923 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation