Incidental Mutation 'R2863:Odad1'
| ID |
253025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Odad1
|
| Ensembl Gene |
ENSMUSG00000040189 |
| Gene Name |
outer dynein arm docking complex subunit 1 |
| Synonyms |
Ccdc114 |
| MMRRC Submission |
040453-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R2863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45573496-45598387 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45597736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 549
(S549P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038720]
[ENSMUST00000210867]
|
| AlphaFold |
Q3UX62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038720
AA Change: S549P
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000042772
Gene: ENSMUSG00000040189
AA Change: S549P
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh3 |
A |
T |
19: 45,874,396 (GRCm39) |
N592K |
probably damaging |
Het |
| Bag5 |
T |
C |
12: 111,677,029 (GRCm39) |
T265A |
probably benign |
Het |
| Bmper |
A |
G |
9: 23,395,237 (GRCm39) |
N656S |
probably benign |
Het |
| Boc |
A |
G |
16: 44,313,323 (GRCm39) |
S514P |
probably benign |
Het |
| Ddx6 |
G |
T |
9: 44,525,553 (GRCm39) |
L103F |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,517,316 (GRCm39) |
P115S |
probably benign |
Het |
| Exoc6 |
T |
C |
19: 37,641,861 (GRCm39) |
F709S |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Fxr2 |
T |
A |
11: 69,530,253 (GRCm39) |
I40N |
probably damaging |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Ldb2 |
T |
C |
5: 44,637,666 (GRCm39) |
Q214R |
probably damaging |
Het |
| Mus81 |
T |
G |
19: 5,536,528 (GRCm39) |
Y146S |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,057,290 (GRCm39) |
I335V |
probably benign |
Het |
| Nid2 |
G |
A |
14: 19,818,471 (GRCm39) |
E322K |
possibly damaging |
Het |
| Ofcc1 |
A |
T |
13: 40,226,236 (GRCm39) |
S765R |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,241,414 (GRCm39) |
H698L |
possibly damaging |
Het |
| Or8b56 |
T |
A |
9: 38,739,835 (GRCm39) |
F283I |
possibly damaging |
Het |
| Otog |
T |
G |
7: 45,918,730 (GRCm39) |
C935W |
probably damaging |
Het |
| Pcdhga3 |
T |
C |
18: 37,807,643 (GRCm39) |
V32A |
probably damaging |
Het |
| Phc3 |
C |
T |
3: 30,968,277 (GRCm39) |
D920N |
probably damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,478,689 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
A |
T |
7: 126,391,272 (GRCm39) |
I20N |
probably damaging |
Het |
| Prkag2 |
T |
A |
5: 25,226,790 (GRCm39) |
T156S |
probably benign |
Het |
| Psd |
T |
C |
19: 46,303,201 (GRCm39) |
D95G |
probably damaging |
Het |
| Riox2 |
A |
G |
16: 59,309,756 (GRCm39) |
D370G |
probably damaging |
Het |
| Spink14 |
T |
A |
18: 44,163,948 (GRCm39) |
C39S |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,997,695 (GRCm39) |
V728A |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,985,019 (GRCm39) |
E29G |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,078,060 (GRCm39) |
Y1139* |
probably null |
Het |
| Wdr95 |
T |
A |
5: 149,505,321 (GRCm39) |
C367* |
probably null |
Het |
| Zfp35 |
T |
A |
18: 24,137,352 (GRCm39) |
D565E |
probably 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 |
|
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 |
|
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'- GGGGAAGGACTTCTAAACCTGTTG -3'
(R):5'- TCTGCTGGTCTCTAGGTAGC -3'
Sequencing Primer
(F):5'- GGACTTCTAAACCTGTTGAGACC -3'
(R):5'- GTCTCTAGGTAGCCTGTAGACC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation