Incidental Mutation 'IGL03161:Odad3'
| ID |
411419 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Odad3
|
| Ensembl Gene |
ENSMUSG00000039632 |
| Gene Name |
outer dynein arm docking complex subunit 3 |
| Synonyms |
Ccdc151, C330001K17Rik, b2b1885Clo |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL03161
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21901167-21913930 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21913611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 54
(S54P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003493]
[ENSMUST00000044926]
[ENSMUST00000115331]
[ENSMUST00000115336]
[ENSMUST00000215795]
[ENSMUST00000216344]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003493
|
| SMART Domains |
Protein: ENSMUSP00000003493
Gene: ENSMUSG00000003402
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
LDLa
|
32 |
72 |
3.01e-2 |
SMART |
|
internal_repeat_1
|
91 |
105 |
3.48e-7 |
PROSPERO |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_5
|
214 |
236 |
5.5e-5 |
PFAM |
|
Pfam:EF-hand_5
|
239 |
257 |
4.4e-4 |
PFAM |
|
low complexity region
|
290 |
341 |
N/A |
INTRINSIC |
|
Pfam:PRKCSH_1
|
366 |
512 |
4.3e-23 |
PFAM |
|
Pfam:PRKCSH
|
406 |
464 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044926
AA Change: S54P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041117
Gene: ENSMUSG00000039632
AA Change: S54P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
88 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
345 |
N/A |
INTRINSIC |
|
coiled coil region
|
378 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115331
|
| SMART Domains |
Protein: ENSMUSP00000110987
Gene: ENSMUSG00000003402
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
LDLa
|
32 |
72 |
3.01e-2 |
SMART |
|
internal_repeat_1
|
91 |
105 |
1.7e-7 |
PROSPERO |
|
low complexity region
|
177 |
191 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_5
|
215 |
236 |
3.2e-5 |
PFAM |
|
Pfam:EF-hand_5
|
239 |
257 |
1.2e-3 |
PFAM |
|
low complexity region
|
290 |
352 |
N/A |
INTRINSIC |
|
Pfam:PRKCSH_1
|
373 |
519 |
4.4e-23 |
PFAM |
|
Pfam:PRKCSH
|
413 |
471 |
4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115336
AA Change: S54P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000110993
Gene: ENSMUSG00000039632
AA Change: S54P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
88 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
346 |
N/A |
INTRINSIC |
|
coiled coil region
|
379 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
566 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214565
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215795
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216344
|
| 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 protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mico homozygous for an ENU-induced allele exhibit dextrocardia associated with situs inversus totalis and hypoplastic spleen, adrenal anomalies and immotile/dyskinetic tracheal airway cilia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579G24Rik |
T |
C |
3: 79,536,493 (GRCm39) |
|
probably benign |
Het |
| Abtb2 |
G |
T |
2: 103,397,799 (GRCm39) |
R243L |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,292,168 (GRCm39) |
E871G |
possibly damaging |
Het |
| Ascc3 |
A |
T |
10: 50,494,168 (GRCm39) |
N201I |
probably damaging |
Het |
| Aste1 |
A |
T |
9: 105,273,871 (GRCm39) |
H37L |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,106,429 (GRCm39) |
|
probably benign |
Het |
| Cand2 |
C |
A |
6: 115,769,698 (GRCm39) |
T836K |
probably benign |
Het |
| Dnah7c |
G |
A |
1: 46,506,456 (GRCm39) |
A178T |
probably benign |
Het |
| Dnm2 |
A |
G |
9: 21,397,020 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,900,987 (GRCm39) |
D326G |
probably damaging |
Het |
| Fignl1 |
A |
C |
11: 11,752,680 (GRCm39) |
M125R |
probably benign |
Het |
| Gabarapl2 |
T |
A |
8: 112,669,168 (GRCm39) |
V42D |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,100 (GRCm39) |
V1957A |
probably damaging |
Het |
| Hps1 |
T |
C |
19: 42,755,710 (GRCm39) |
E172G |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,371,707 (GRCm39) |
D33G |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,376,255 (GRCm39) |
N1542D |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,557,977 (GRCm39) |
Y179H |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,570,766 (GRCm39) |
S609P |
possibly damaging |
Het |
| Nacad |
G |
A |
11: 6,550,378 (GRCm39) |
Q938* |
probably null |
Het |
| Or4k45 |
T |
C |
2: 111,395,676 (GRCm39) |
I38V |
possibly damaging |
Het |
| Or4p22 |
G |
A |
2: 88,317,792 (GRCm39) |
A239T |
probably benign |
Het |
| Pik3c3 |
C |
T |
18: 30,426,760 (GRCm39) |
T292I |
probably benign |
Het |
| Prss3b |
A |
T |
6: 41,011,240 (GRCm39) |
H47Q |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,591,241 (GRCm39) |
V1351A |
probably benign |
Het |
| Spg7 |
T |
C |
8: 123,814,070 (GRCm39) |
M443T |
probably damaging |
Het |
| Spmip9 |
T |
C |
6: 70,890,519 (GRCm39) |
E91G |
probably benign |
Het |
| Tcof1 |
A |
G |
18: 60,966,560 (GRCm39) |
S344P |
possibly damaging |
Het |
| Tm4sf5 |
T |
A |
11: 70,401,098 (GRCm39) |
S105T |
probably benign |
Het |
| Tmem119 |
A |
G |
5: 113,932,961 (GRCm39) |
V280A |
possibly damaging |
Het |
| Trbv20 |
A |
T |
6: 41,165,757 (GRCm39) |
I61L |
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,738,853 (GRCm39) |
|
probably benign |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,204 (GRCm39) |
M191L |
possibly damaging |
Het |
| Vta1 |
A |
T |
10: 14,543,716 (GRCm39) |
H219Q |
possibly damaging |
Het |
|
| Other mutations in Odad3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01473:Odad3
|
APN |
9 |
21,906,675 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01922:Odad3
|
APN |
9 |
21,904,826 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02223:Odad3
|
APN |
9 |
21,904,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03269:Odad3
|
APN |
9 |
21,909,339 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0118:Odad3
|
UTSW |
9 |
21,906,353 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0129:Odad3
|
UTSW |
9 |
21,904,848 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0279:Odad3
|
UTSW |
9 |
21,901,543 (GRCm39) |
unclassified |
probably benign |
|
|
R0390:Odad3
|
UTSW |
9 |
21,903,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1349:Odad3
|
UTSW |
9 |
21,904,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1372:Odad3
|
UTSW |
9 |
21,904,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Odad3
|
UTSW |
9 |
21,906,677 (GRCm39) |
splice site |
probably null |
|
|
R2044:Odad3
|
UTSW |
9 |
21,903,154 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5116:Odad3
|
UTSW |
9 |
21,901,424 (GRCm39) |
makesense |
probably null |
|
|
R5147:Odad3
|
UTSW |
9 |
21,906,158 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5929:Odad3
|
UTSW |
9 |
21,913,718 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6182:Odad3
|
UTSW |
9 |
21,901,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7253:Odad3
|
UTSW |
9 |
21,913,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Odad3
|
UTSW |
9 |
21,913,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7742:Odad3
|
UTSW |
9 |
21,904,193 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8331:Odad3
|
UTSW |
9 |
21,903,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8976:Odad3
|
UTSW |
9 |
21,903,334 (GRCm39) |
unclassified |
probably benign |
|
|
R9319:Odad3
|
UTSW |
9 |
21,906,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9324:Odad3
|
UTSW |
9 |
21,903,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9422:Odad3
|
UTSW |
9 |
21,913,628 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9614:Odad3
|
UTSW |
9 |
21,904,310 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Odad3
|
UTSW |
9 |
21,901,720 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Posted On |
2016-08-02 |
Incidental Mutation