Incidental Mutation 'R5187:Odad1'
| ID |
397964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Odad1
|
| Ensembl Gene |
ENSMUSG00000040189 |
| Gene Name |
outer dynein arm docking complex subunit 1 |
| Synonyms |
Ccdc114 |
| MMRRC Submission |
042766-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5187 (G1)
|
| Quality Score |
204 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45573496-45598387 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45578540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 77
(I77V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038720]
[ENSMUST00000210039]
[ENSMUST00000210602]
[ENSMUST00000211367]
[ENSMUST00000210867]
|
| AlphaFold |
Q3UX62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038720
AA Change: I38V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042772
Gene: ENSMUSG00000040189
AA Change: I38V
| 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 damaging
Transcript: ENSMUST00000117998
AA Change: I74V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113218
Gene: ENSMUSG00000040189
AA Change: I74V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120643
AA Change: I74V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113876
Gene: ENSMUSG00000040189
AA Change: I74V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
123 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133500
AA Change: I74V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114367
Gene: ENSMUSG00000040189
AA Change: I74V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
189 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210038
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210039
AA Change: I77V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210602
AA Change: I77V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211367
AA Change: I77V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210867
AA Change: I38V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211628
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210842
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abcg5 |
A |
G |
17: 84,965,992 (GRCm39) |
L628S |
probably damaging |
Het |
| Acbd3 |
C |
T |
1: 180,564,297 (GRCm39) |
R201* |
probably null |
Het |
| Adsl |
A |
G |
15: 80,833,106 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
GCACC |
GCACCACC |
15: 99,596,684 (GRCm39) |
|
probably benign |
Het |
| Cachd1 |
T |
C |
4: 100,823,397 (GRCm39) |
V483A |
possibly damaging |
Het |
| Calm1 |
T |
C |
12: 100,166,472 (GRCm39) |
S19P |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,040,641 (GRCm39) |
N313S |
possibly damaging |
Het |
| Cav2 |
G |
T |
6: 17,286,935 (GRCm39) |
A64S |
possibly damaging |
Het |
| Ccdc167 |
C |
A |
17: 29,924,485 (GRCm39) |
A39S |
possibly damaging |
Het |
| Cd274 |
T |
C |
19: 29,359,936 (GRCm39) |
L247P |
probably benign |
Het |
| Cdhr5 |
T |
C |
7: 140,854,361 (GRCm39) |
E138G |
probably damaging |
Het |
| Cltb |
C |
T |
13: 54,741,693 (GRCm39) |
C81Y |
probably benign |
Het |
| Clvs1 |
T |
C |
4: 9,281,865 (GRCm39) |
L103P |
possibly damaging |
Het |
| Cntrob |
G |
T |
11: 69,212,717 (GRCm39) |
Q106K |
possibly damaging |
Het |
| Ctsh |
T |
C |
9: 89,936,643 (GRCm39) |
L14P |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,292,379 (GRCm39) |
N3268S |
probably damaging |
Het |
| Cyb5r4 |
T |
C |
9: 86,909,001 (GRCm39) |
V26A |
possibly damaging |
Het |
| Ddx18 |
A |
G |
1: 121,489,857 (GRCm39) |
I184T |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 62,427,222 (GRCm39) |
W766R |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,272,318 (GRCm39) |
V1041I |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,464,050 (GRCm39) |
N38K |
probably benign |
Het |
| Ermap |
T |
C |
4: 119,043,015 (GRCm39) |
|
probably null |
Het |
| Fryl |
A |
G |
5: 73,243,943 (GRCm39) |
L1209P |
possibly damaging |
Het |
| Gm5093 |
T |
C |
17: 46,750,799 (GRCm39) |
E76G |
possibly damaging |
Het |
| Grk6 |
T |
C |
13: 55,599,519 (GRCm39) |
C169R |
probably damaging |
Het |
| Hmgn1 |
A |
T |
16: 95,923,627 (GRCm39) |
|
probably null |
Het |
| Lpcat2b |
T |
A |
5: 107,582,001 (GRCm39) |
Y443* |
probably null |
Het |
| Macf1 |
T |
A |
4: 123,365,882 (GRCm39) |
M1395L |
probably benign |
Het |
| Mllt10 |
C |
T |
2: 18,213,585 (GRCm39) |
Q997* |
probably null |
Het |
| Mocos |
T |
A |
18: 24,825,611 (GRCm39) |
V722E |
probably damaging |
Het |
| Moxd2 |
A |
T |
6: 40,856,271 (GRCm39) |
L534M |
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,035,568 (GRCm39) |
M368V |
possibly damaging |
Het |
| Myo15a |
G |
A |
11: 60,394,440 (GRCm39) |
G2383D |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,834,745 (GRCm39) |
I935T |
possibly damaging |
Het |
| Ndst4 |
T |
A |
3: 125,231,560 (GRCm39) |
L43H |
probably damaging |
Het |
| Niban1 |
T |
A |
1: 151,579,580 (GRCm39) |
L433Q |
possibly damaging |
Het |
| Nsl1 |
A |
G |
1: 190,807,387 (GRCm39) |
N189D |
probably benign |
Het |
| Or51e1 |
A |
T |
7: 102,358,868 (GRCm39) |
H134L |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,007,594 (GRCm39) |
D323G |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,279,448 (GRCm39) |
S2957P |
possibly damaging |
Het |
| Prdm9 |
T |
G |
17: 15,783,155 (GRCm39) |
E42D |
probably damaging |
Het |
| Rasal1 |
C |
A |
5: 120,813,460 (GRCm39) |
H611Q |
probably benign |
Het |
| Relch |
T |
A |
1: 105,646,534 (GRCm39) |
L620* |
probably null |
Het |
| Rif1 |
T |
A |
2: 51,971,301 (GRCm39) |
W260R |
probably damaging |
Het |
| Rpain |
A |
G |
11: 70,864,658 (GRCm39) |
D115G |
probably benign |
Het |
| Rpl3l |
T |
C |
17: 24,951,429 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,787,338 (GRCm39) |
I1012F |
probably damaging |
Het |
| Sema4f |
A |
G |
6: 82,894,631 (GRCm39) |
V480A |
probably benign |
Het |
| Slc35a3 |
T |
A |
3: 116,474,794 (GRCm39) |
K199N |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,200,322 (GRCm39) |
Y121C |
probably damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,291,514 (GRCm39) |
|
probably null |
Het |
| Sort1 |
T |
A |
3: 108,231,992 (GRCm39) |
I172N |
probably damaging |
Het |
| Spink5 |
C |
A |
18: 44,122,518 (GRCm39) |
H328N |
probably damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,263,770 (GRCm39) |
D504G |
probably damaging |
Het |
| Tcaf3 |
C |
T |
6: 42,573,954 (GRCm39) |
C86Y |
possibly damaging |
Het |
| Tfap2e |
T |
C |
4: 126,628,434 (GRCm39) |
D174G |
probably benign |
Het |
| Tmem42 |
T |
C |
9: 122,851,232 (GRCm39) |
V65A |
probably damaging |
Het |
| Vmn1r225 |
C |
G |
17: 20,723,177 (GRCm39) |
T206R |
probably damaging |
Het |
| Vmn2r38 |
A |
G |
7: 9,100,571 (GRCm39) |
F65S |
probably benign |
Het |
| Vmn2r87 |
A |
T |
10: 130,333,208 (GRCm39) |
L14Q |
probably null |
Het |
| Xirp2 |
T |
C |
2: 67,345,711 (GRCm39) |
S2651P |
probably benign |
Het |
| Zfp429 |
G |
A |
13: 67,538,959 (GRCm39) |
L162F |
probably damaging |
Het |
| Zhx1 |
A |
T |
15: 57,915,819 (GRCm39) |
M809K |
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 |
|
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 |
|
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'- TGCAGGATCTCTGGAGAGTC -3'
(R):5'- CTACAAGGTCTGATAGGATGGCG -3'
Sequencing Primer
(F):5'- CCAGTGCTGGGGTAGAGAAG -3'
(R):5'- TCTGATAGGATGGCGGCCAAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation