Incidental Mutation 'R2097:Odad4'
| ID |
230325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Odad4
|
| Ensembl Gene |
ENSMUSG00000006784 |
| Gene Name |
outer dynein arm complex subunit 4 |
| Synonyms |
4933404O19Rik, Ttc25 |
| MMRRC Submission |
040101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R2097 (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 100454408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 398
(F398I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006976]
[ENSMUST00000092684]
|
| AlphaFold |
Q9D4B2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006976
AA Change: F398I
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000006976
Gene: ENSMUSG00000006784
AA Change: F398I
| 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 |
possibly damaging
Transcript: ENSMUST00000092684
AA Change: F398I
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000090355
Gene: ENSMUSG00000006784
AA Change: F398I
| 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: ENSMUST00000132143
|
| Meta Mutation Damage Score |
0.0905 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,709,185 (GRCm39) |
V263A |
probably damaging |
Het |
| Apol6 |
T |
A |
15: 76,931,333 (GRCm39) |
|
probably null |
Het |
| Aqp3 |
C |
T |
4: 41,098,004 (GRCm39) |
V36M |
possibly damaging |
Het |
| Bace1 |
G |
T |
9: 45,771,520 (GRCm39) |
C478F |
probably benign |
Het |
| Bbof1 |
C |
A |
12: 84,460,081 (GRCm39) |
A116D |
probably damaging |
Het |
| Casq1 |
A |
T |
1: 172,037,988 (GRCm39) |
L381Q |
probably damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,397,759 (GRCm39) |
L533* |
probably null |
Het |
| Cdcp3 |
A |
T |
7: 130,783,693 (GRCm39) |
R29* |
probably null |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Cntn6 |
A |
G |
6: 104,838,910 (GRCm39) |
E988G |
probably damaging |
Het |
| Cts6 |
T |
A |
13: 61,343,259 (GRCm39) |
N321Y |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,821,084 (GRCm39) |
S1269P |
probably benign |
Het |
| Dsg4 |
C |
A |
18: 20,604,101 (GRCm39) |
P856H |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,811,791 (GRCm39) |
|
probably null |
Het |
| Galc |
T |
C |
12: 98,218,291 (GRCm39) |
D187G |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,357,079 (GRCm39) |
I384T |
probably damaging |
Het |
| Hacd2 |
A |
G |
16: 34,869,090 (GRCm39) |
I92V |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,270,431 (GRCm39) |
Y1223N |
probably damaging |
Het |
| Il20ra |
T |
C |
10: 19,635,211 (GRCm39) |
I484T |
probably damaging |
Het |
| Map7 |
G |
T |
10: 20,122,362 (GRCm39) |
V143F |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,348,323 (GRCm39) |
L1893P |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,844 (GRCm39) |
N533S |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,630,638 (GRCm39) |
D2233G |
probably damaging |
Het |
| Nlrp6 |
A |
T |
7: 140,503,117 (GRCm39) |
T408S |
probably damaging |
Het |
| Notch3 |
A |
T |
17: 32,341,728 (GRCm39) |
L2008Q |
probably damaging |
Het |
| Or52e19b |
T |
A |
7: 103,032,840 (GRCm39) |
D123V |
probably damaging |
Het |
| Or8k20 |
A |
T |
2: 86,106,383 (GRCm39) |
Y149* |
probably null |
Het |
| Pggt1b |
T |
C |
18: 46,379,695 (GRCm39) |
N296D |
probably benign |
Het |
| Pglyrp3 |
T |
A |
3: 91,935,478 (GRCm39) |
F243I |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptpdc1 |
T |
A |
13: 48,746,135 (GRCm39) |
|
probably null |
Het |
| Ptprq |
T |
C |
10: 107,489,354 (GRCm39) |
T924A |
probably benign |
Het |
| Pwp2 |
C |
A |
10: 78,013,576 (GRCm39) |
|
probably benign |
Het |
| Slc7a4 |
G |
T |
16: 17,391,319 (GRCm39) |
|
probably null |
Het |
| Tmem132b |
T |
A |
5: 125,715,272 (GRCm39) |
I327K |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,393,933 (GRCm39) |
M4V |
probably damaging |
Het |
| Tspan13 |
T |
C |
12: 36,071,829 (GRCm39) |
S128G |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,429,882 (GRCm39) |
D131G |
probably null |
Het |
| Zeb2 |
A |
T |
2: 44,887,168 (GRCm39) |
C615S |
probably damaging |
Het |
| Zfp777 |
C |
T |
6: 48,021,176 (GRCm39) |
D149N |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,263,892 (GRCm39) |
K297E |
possibly 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 |
|
|
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'- GCAGTCTGGCAATATGATGGTAC -3'
(R):5'- AACACAGAGATGCTAGGCTC -3'
Sequencing Primer
(F):5'- ACTTACTAATTATGCTCTGGACCGG -3'
(R):5'- TCAGCCCTTGGGACTGG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation