Incidental Mutation 'R2655:Odad4'
| ID |
252682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Odad4
|
| Ensembl Gene |
ENSMUSG00000006784 |
| Gene Name |
outer dynein arm complex subunit 4 |
| Synonyms |
4933404O19Rik, Ttc25 |
| MMRRC Submission |
040430-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R2655 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100436434-100463392 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100444405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 237
(W237R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006976]
[ENSMUST00000092684]
|
| AlphaFold |
Q9D4B2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006976
AA Change: W237R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006976
Gene: ENSMUSG00000006784
AA Change: W237R
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
11 |
44 |
3.69e1 |
SMART |
|
TPR
|
45 |
78 |
3.07e1 |
SMART |
|
TPR
|
79 |
112 |
4.96e0 |
SMART |
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
208 |
N/A |
INTRINSIC |
|
TPR
|
318 |
351 |
4.96e0 |
SMART |
|
TPR
|
358 |
391 |
1.11e1 |
SMART |
|
Blast:TPR
|
395 |
428 |
7e-14 |
BLAST |
|
TPR
|
435 |
468 |
2.99e1 |
SMART |
|
low complexity region
|
493 |
505 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092684
AA Change: W237R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090355
Gene: ENSMUSG00000006784
AA Change: W237R
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
11 |
44 |
3.69e1 |
SMART |
|
TPR
|
45 |
78 |
3.07e1 |
SMART |
|
TPR
|
79 |
112 |
4.96e0 |
SMART |
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
208 |
N/A |
INTRINSIC |
|
TPR
|
318 |
351 |
4.96e0 |
SMART |
|
TPR
|
358 |
391 |
1.11e1 |
SMART |
|
Blast:TPR
|
395 |
428 |
5e-14 |
BLAST |
|
TPR
|
435 |
468 |
2.99e1 |
SMART |
|
coiled coil region
|
528 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
567 |
N/A |
INTRINSIC |
|
coiled coil region
|
599 |
624 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132143
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150331
|
| Meta Mutation Damage Score |
0.0908 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display partial preweaning lethality, impaired ciliary motility, and a variety of left-right body symmetry defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
A |
12: 84,122,650 (GRCm39) |
S411R |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,065,174 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Bbs9 |
G |
A |
9: 22,415,348 (GRCm39) |
E91K |
probably damaging |
Het |
| Casp4 |
C |
A |
9: 5,322,894 (GRCm39) |
L57I |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,302,191 (GRCm39) |
K169E |
probably damaging |
Het |
| Cav1 |
A |
G |
6: 17,339,359 (GRCm39) |
Y148C |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,328,027 (GRCm39) |
|
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,688,399 (GRCm39) |
S165P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,292,703 (GRCm39) |
S115P |
probably damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,714,917 (GRCm39) |
S120P |
probably damaging |
Het |
| Epor |
A |
G |
9: 21,872,016 (GRCm39) |
S236P |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Igfbpl1 |
T |
C |
4: 45,816,289 (GRCm39) |
T179A |
probably damaging |
Het |
| Ighv14-4 |
T |
G |
12: 114,140,068 (GRCm39) |
Y114S |
probably damaging |
Het |
| Ipcef1 |
T |
C |
10: 6,929,657 (GRCm39) |
I29V |
probably benign |
Het |
| Junb |
A |
G |
8: 85,704,137 (GRCm39) |
S308P |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,161,314 (GRCm39) |
E198G |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,312,978 (GRCm39) |
R33H |
possibly damaging |
Het |
| Map3k20 |
C |
A |
2: 72,263,764 (GRCm39) |
T471K |
probably damaging |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,698,638 (GRCm39) |
M308V |
probably benign |
Het |
| Or8g35 |
A |
T |
9: 39,381,924 (GRCm39) |
S33T |
probably benign |
Het |
| Patj |
T |
C |
4: 98,325,687 (GRCm39) |
V508A |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,795,464 (GRCm39) |
V2319A |
probably damaging |
Het |
| Pnpla7 |
A |
G |
2: 24,942,330 (GRCm39) |
Y83C |
probably damaging |
Het |
| Prb1a |
G |
C |
6: 132,187,425 (GRCm39) |
Q19E |
unknown |
Het |
| Rasa3 |
T |
C |
8: 13,645,373 (GRCm39) |
T189A |
possibly damaging |
Het |
| Reck |
T |
A |
4: 43,938,966 (GRCm39) |
D777E |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,569,873 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
A |
G |
1: 106,928,157 (GRCm39) |
D259G |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,346,917 (GRCm39) |
R253Q |
possibly damaging |
Het |
| Slu7 |
A |
G |
11: 43,331,475 (GRCm39) |
E203G |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,576,597 (GRCm39) |
D252E |
probably benign |
Het |
| Tpte |
A |
G |
8: 22,801,294 (GRCm39) |
|
probably null |
Het |
| Ttll7 |
A |
G |
3: 146,653,376 (GRCm39) |
Y729C |
probably damaging |
Het |
| Usp35 |
T |
A |
7: 96,961,354 (GRCm39) |
T691S |
probably benign |
Het |
| Vmn1r211 |
A |
G |
13: 23,036,586 (GRCm39) |
V27A |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,477 (GRCm39) |
T191A |
possibly damaging |
Het |
| Vwa5b1 |
C |
T |
4: 138,321,614 (GRCm39) |
G393D |
probably damaging |
Het |
|
| Other mutations in Odad4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02027:Odad4
|
APN |
11 |
100,460,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02379:Odad4
|
APN |
11 |
100,457,809 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03091:Odad4
|
APN |
11 |
100,441,076 (GRCm39) |
nonsense |
probably null |
|
|
IGL02991:Odad4
|
UTSW |
11 |
100,444,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0044:Odad4
|
UTSW |
11 |
100,457,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Odad4
|
UTSW |
11 |
100,454,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0280:Odad4
|
UTSW |
11 |
100,441,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1373:Odad4
|
UTSW |
11 |
100,436,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Odad4
|
UTSW |
11 |
100,460,679 (GRCm39) |
splice site |
probably null |
|
|
R2097:Odad4
|
UTSW |
11 |
100,454,408 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2121:Odad4
|
UTSW |
11 |
100,457,837 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2509:Odad4
|
UTSW |
11 |
100,444,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4635:Odad4
|
UTSW |
11 |
100,442,333 (GRCm39) |
nonsense |
probably null |
|
|
R4773:Odad4
|
UTSW |
11 |
100,440,742 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4858:Odad4
|
UTSW |
11 |
100,441,147 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5164:Odad4
|
UTSW |
11 |
100,462,346 (GRCm39) |
nonsense |
probably null |
|
|
R5181:Odad4
|
UTSW |
11 |
100,440,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5707:Odad4
|
UTSW |
11 |
100,444,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5742:Odad4
|
UTSW |
11 |
100,436,699 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7634:Odad4
|
UTSW |
11 |
100,452,731 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7851:Odad4
|
UTSW |
11 |
100,436,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8186:Odad4
|
UTSW |
11 |
100,454,505 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8194:Odad4
|
UTSW |
11 |
100,454,502 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8444:Odad4
|
UTSW |
11 |
100,452,731 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8879:Odad4
|
UTSW |
11 |
100,457,752 (GRCm39) |
nonsense |
probably null |
|
|
X0018:Odad4
|
UTSW |
11 |
100,444,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0028:Odad4
|
UTSW |
11 |
100,436,724 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTTCCTCACTGCTGGGG -3'
(R):5'- ACAAGTCAGCAGAGGCCTAG -3'
Sequencing Primer
(F):5'- TGCAGACAGAGGTCCTCACAG -3'
(R):5'- AGGCCTAGGCTCTGACTATCATG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation