Incidental Mutation 'R9713:Odad1'
ID |
730313 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Odad1
|
Ensembl Gene |
ENSMUSG00000040189 |
Gene Name |
outer dynein arm docking complex subunit 1 |
Synonyms |
Ccdc114 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R9713 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
45573496-45598387 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 45578562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 45
(V45G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038720]
[ENSMUST00000210039]
[ENSMUST00000210602]
[ENSMUST00000210867]
[ENSMUST00000211367]
|
AlphaFold |
Q3UX62 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038720
AA Change: V45G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000042772 Gene: ENSMUSG00000040189 AA Change: V45G
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 |
possibly damaging
Transcript: ENSMUST00000210039
AA Change: V84G
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210602
AA Change: V84G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210867
AA Change: V45G
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211367
AA Change: V84G
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024B05Rik |
A |
T |
14: 41,820,060 (GRCm39) |
I107F |
probably benign |
Het |
Adam20 |
G |
A |
8: 41,248,490 (GRCm39) |
R200H |
probably benign |
Het |
Ahnak |
GATCTCTAT |
GAT |
19: 8,984,393 (GRCm39) |
|
probably benign |
Het |
Arfgef3 |
A |
T |
10: 18,528,556 (GRCm39) |
I277N |
probably damaging |
Het |
Atp11b |
A |
T |
3: 35,885,560 (GRCm39) |
Y851F |
probably damaging |
Het |
Cdhr1 |
A |
G |
14: 36,801,751 (GRCm39) |
S731P |
probably damaging |
Het |
Csf2rb2 |
A |
G |
15: 78,176,730 (GRCm39) |
S221P |
possibly damaging |
Het |
Dact3 |
A |
T |
7: 16,620,292 (GRCm39) |
I596F |
unknown |
Het |
Eya4 |
A |
T |
10: 23,027,870 (GRCm39) |
Y287* |
probably null |
Het |
Folr2 |
T |
C |
7: 101,489,809 (GRCm39) |
D153G |
probably benign |
Het |
Gal3st2b |
A |
T |
1: 93,866,409 (GRCm39) |
I37L |
probably benign |
Het |
H2ac8 |
G |
A |
13: 23,755,041 (GRCm39) |
P81L |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,823,328 (GRCm39) |
M1027T |
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
Hsd17b2 |
A |
T |
8: 118,485,342 (GRCm39) |
|
probably null |
Het |
Igkv4-74 |
A |
G |
6: 69,161,993 (GRCm39) |
Y59H |
probably damaging |
Het |
Ilvbl |
T |
C |
10: 78,412,489 (GRCm39) |
V70A |
probably benign |
Het |
Klrh1 |
A |
G |
6: 129,752,359 (GRCm39) |
V52A |
possibly damaging |
Het |
Ly9 |
A |
C |
1: 171,428,756 (GRCm39) |
I288S |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,416,678 (GRCm39) |
E3208G |
probably benign |
Het |
Myo1b |
G |
A |
1: 51,818,766 (GRCm39) |
T503I |
possibly damaging |
Het |
Ntm |
T |
A |
9: 29,090,327 (GRCm39) |
I131F |
possibly damaging |
Het |
Or1p4-ps1 |
A |
G |
11: 74,208,078 (GRCm39) |
T76A |
probably damaging |
Het |
Or51f23c-ps1 |
T |
C |
7: 102,431,633 (GRCm39) |
*317Q |
probably null |
Het |
Or52ae7 |
C |
T |
7: 103,119,914 (GRCm39) |
L223F |
possibly damaging |
Het |
Or5b108 |
A |
T |
19: 13,168,727 (GRCm39) |
Y232F |
probably benign |
Het |
Or8k38 |
T |
C |
2: 86,488,041 (GRCm39) |
T254A |
possibly damaging |
Het |
Pbrm1 |
T |
C |
14: 30,828,123 (GRCm39) |
S1317P |
probably damaging |
Het |
Spaca6 |
T |
A |
17: 18,058,498 (GRCm39) |
Y39* |
probably null |
Het |
Spen |
G |
A |
4: 141,244,331 (GRCm39) |
R235C |
unknown |
Het |
Sycp2l |
C |
A |
13: 41,326,183 (GRCm39) |
A746D |
probably damaging |
Het |
Tgm3 |
A |
G |
2: 129,867,229 (GRCm39) |
E158G |
possibly damaging |
Het |
Trim26 |
A |
T |
17: 37,168,307 (GRCm39) |
D324V |
probably damaging |
Het |
Ttc9b |
T |
C |
7: 27,353,475 (GRCm39) |
S42P |
probably benign |
Het |
Ttn |
C |
A |
2: 76,682,434 (GRCm39) |
E952* |
probably null |
Het |
Ulk4 |
C |
A |
9: 120,873,862 (GRCm39) |
E1190* |
probably null |
Het |
Vmn1r85 |
A |
T |
7: 12,818,458 (GRCm39) |
S229T |
probably damaging |
Het |
Wwc1 |
C |
A |
11: 35,766,576 (GRCm39) |
A560S |
probably benign |
Het |
Zfp787 |
A |
G |
7: 6,146,059 (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 |
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 |
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 |
X0064:Odad1
|
UTSW |
7 |
45,597,817 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGGATCTCTGGAGAGTC -3'
(R):5'- ATCGCCAAGACTTAGAACAGTTAC -3'
Sequencing Primer
(F):5'- CCAGTGCTGGGGTAGAGAAG -3'
(R):5'- TTACTACAAGGTCTGATAGGATGGC -3'
|
Posted On |
2022-10-06 |