Incidental Mutation 'R1373:Odad4'
ID |
157411 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Odad4
|
Ensembl Gene |
ENSMUSG00000006784 |
Gene Name |
outer dynein arm complex subunit 4 |
Synonyms |
4933404O19Rik, Ttc25 |
MMRRC Submission |
039437-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R1373 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
100436434-100463392 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100436658 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 11
(F11S)
|
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: F11S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006976 Gene: ENSMUSG00000006784 AA Change: F11S
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: F11S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090355 Gene: ENSMUSG00000006784 AA Change: F11S
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 |
0.3053 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.2%
|
Validation Efficiency |
94% (34/36) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
G |
A |
14: 68,808,400 (GRCm39) |
R317C |
probably damaging |
Het |
Adgrl1 |
T |
C |
8: 84,664,392 (GRCm39) |
V1261A |
probably benign |
Het |
Btla |
G |
A |
16: 45,044,783 (GRCm39) |
G23D |
probably benign |
Het |
Card19 |
T |
C |
13: 49,357,440 (GRCm39) |
D110G |
probably damaging |
Het |
Cbx7 |
C |
T |
15: 79,803,074 (GRCm39) |
G160R |
probably damaging |
Het |
Ccng2 |
C |
T |
5: 93,418,914 (GRCm39) |
|
probably benign |
Het |
Col4a3 |
G |
A |
1: 82,667,808 (GRCm39) |
|
probably benign |
Het |
Colgalt2 |
A |
G |
1: 152,348,912 (GRCm39) |
T186A |
probably damaging |
Het |
Cps1 |
A |
G |
1: 67,268,583 (GRCm39) |
N1437S |
possibly damaging |
Het |
Dcaf1 |
A |
G |
9: 106,735,079 (GRCm39) |
I676V |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,314,064 (GRCm39) |
|
probably benign |
Het |
Dock1 |
T |
C |
7: 134,768,904 (GRCm39) |
S1758P |
probably benign |
Het |
Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
Ice2 |
G |
A |
9: 69,314,401 (GRCm39) |
R50H |
probably benign |
Het |
Ifi207 |
T |
A |
1: 173,557,913 (GRCm39) |
D275V |
unknown |
Het |
Nrxn2 |
C |
T |
19: 6,522,331 (GRCm39) |
T190M |
probably damaging |
Het |
Or14j8 |
T |
C |
17: 38,263,251 (GRCm39) |
I221M |
probably damaging |
Het |
Or2ag17 |
C |
T |
7: 106,389,963 (GRCm39) |
V82I |
probably benign |
Het |
Pcnx3 |
A |
G |
19: 5,715,544 (GRCm39) |
L1494P |
probably damaging |
Het |
Pitrm1 |
G |
T |
13: 6,620,736 (GRCm39) |
M739I |
probably benign |
Het |
Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
Sfr1 |
C |
G |
19: 47,723,355 (GRCm39) |
D286E |
possibly damaging |
Het |
Slx4 |
A |
G |
16: 3,803,374 (GRCm39) |
S1147P |
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,864 (GRCm39) |
Q265H |
unknown |
Het |
Tgfbr3 |
T |
C |
5: 107,362,809 (GRCm39) |
I68V |
probably benign |
Het |
Tpmt |
A |
C |
13: 47,180,734 (GRCm39) |
|
probably null |
Het |
Trpm5 |
A |
G |
7: 142,640,579 (GRCm39) |
|
probably benign |
Het |
Txlnb |
A |
G |
10: 17,714,695 (GRCm39) |
T376A |
probably damaging |
Het |
Usp25 |
T |
C |
16: 76,859,273 (GRCm39) |
|
probably benign |
Het |
Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
Vps13c |
A |
T |
9: 67,834,793 (GRCm39) |
K1707N |
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 |
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 |
R2655:Odad4
|
UTSW |
11 |
100,444,405 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TTTGTCTGCGAGGCTTTCCACG -3'
(R):5'- GGTTCCATCATTCCAGAGGCCAAC -3'
Sequencing Primer
(F):5'- GCAAACAGCGATCACTCTGG -3'
(R):5'- aggaaagaagagaaaaaaagaagagg -3'
|
Posted On |
2014-02-18 |