Incidental Mutation 'R5164:Odad4'
| ID |
395603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Odad4
|
| Ensembl Gene |
ENSMUSG00000006784 |
| Gene Name |
outer dynein arm complex subunit 4 |
| Synonyms |
4933404O19Rik, Ttc25 |
| MMRRC Submission |
042745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R5164 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100436434-100463392 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 100462346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 506
(W506*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006976]
[ENSMUST00000092684]
[ENSMUST00000103120]
|
| AlphaFold |
Q9D4B2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006976
AA Change: W506*
|
| SMART Domains |
Protein: ENSMUSP00000006976
Gene: ENSMUSG00000006784
AA Change: W506*
| 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 benign
Transcript: ENSMUST00000092684
AA Change: V535M
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000090355
Gene: ENSMUSG00000006784
AA Change: V535M
| 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 |
probably benign
Transcript: ENSMUST00000103120
|
| SMART Domains |
Protein: ENSMUSP00000099409
Gene: ENSMUSG00000006782
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_33
|
52 |
175 |
8.9e-10 |
PFAM |
|
Pfam:CNPase
|
185 |
419 |
7.1e-118 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132143
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150414
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (49/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,583,793 (GRCm39) |
H4637Q |
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,189,249 (GRCm39) |
H2221R |
probably benign |
Het |
| Arsj |
A |
T |
3: 126,231,808 (GRCm39) |
M185L |
probably benign |
Het |
| Ccdc177 |
T |
C |
12: 80,805,336 (GRCm39) |
T313A |
unknown |
Het |
| Cdkal1 |
A |
T |
13: 29,809,702 (GRCm39) |
L214H |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,301,752 (GRCm39) |
I1830N |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,965,675 (GRCm39) |
K445R |
probably damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,884,160 (GRCm39) |
I299N |
probably damaging |
Het |
| Cse1l |
C |
A |
2: 166,786,348 (GRCm39) |
D826E |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,475,511 (GRCm39) |
V816A |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,408,438 (GRCm39) |
E3474D |
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,055,110 (GRCm39) |
Y585* |
probably null |
Het |
| Ebf2 |
T |
C |
14: 67,627,970 (GRCm39) |
S322P |
possibly damaging |
Het |
| Epha8 |
T |
C |
4: 136,672,983 (GRCm39) |
E267G |
possibly damaging |
Het |
| Fkbp5 |
A |
G |
17: 28,656,964 (GRCm39) |
|
probably null |
Het |
| Gbp4 |
T |
A |
5: 105,284,743 (GRCm39) |
K49* |
probably null |
Het |
| Gramd4 |
A |
T |
15: 85,985,032 (GRCm39) |
T98S |
probably benign |
Het |
| Hectd1 |
C |
A |
12: 51,874,272 (GRCm39) |
M1I |
probably null |
Het |
| Hsd17b8 |
A |
G |
17: 34,245,952 (GRCm39) |
|
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,574,597 (GRCm39) |
T315A |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Keg1 |
A |
G |
19: 12,692,044 (GRCm39) |
|
probably benign |
Het |
| Lilra6 |
A |
T |
7: 3,917,880 (GRCm39) |
V88E |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,640,147 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,759,011 (GRCm39) |
|
probably null |
Het |
| Nrdc |
C |
T |
4: 108,896,914 (GRCm39) |
T511I |
probably damaging |
Het |
| Or4c106 |
T |
A |
2: 88,682,914 (GRCm39) |
L207I |
probably benign |
Het |
| Or5p6 |
G |
A |
7: 107,631,487 (GRCm39) |
T21I |
possibly damaging |
Het |
| Or8k24 |
T |
C |
2: 86,215,815 (GRCm39) |
T316A |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,246,799 (GRCm39) |
V301A |
probably damaging |
Het |
| Pnisr |
A |
T |
4: 21,859,237 (GRCm39) |
Q144L |
possibly damaging |
Het |
| Pp2d1 |
G |
T |
17: 53,815,098 (GRCm39) |
T542K |
probably benign |
Het |
| Ppargc1b |
A |
T |
18: 61,435,715 (GRCm39) |
C922S |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,018,995 (GRCm39) |
|
probably null |
Het |
| Runx3 |
T |
C |
4: 134,848,441 (GRCm39) |
S9P |
possibly damaging |
Het |
| Serpina1b |
A |
G |
12: 103,698,346 (GRCm39) |
S168P |
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,200,487 (GRCm39) |
A722V |
probably damaging |
Het |
| Slc23a2 |
T |
A |
2: 131,917,370 (GRCm39) |
|
probably benign |
Het |
| Slc47a1 |
A |
G |
11: 61,243,886 (GRCm39) |
|
probably null |
Het |
| Tcf20 |
A |
G |
15: 82,740,804 (GRCm39) |
S216P |
probably damaging |
Het |
| Tpst1 |
T |
A |
5: 130,130,842 (GRCm39) |
I104N |
probably damaging |
Het |
| Ufm1 |
A |
C |
3: 53,765,348 (GRCm39) |
|
probably benign |
Het |
| Unkl |
A |
G |
17: 25,432,083 (GRCm39) |
|
probably null |
Het |
| Usf3 |
T |
C |
16: 44,038,543 (GRCm39) |
S1008P |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,237,677 (GRCm39) |
V6A |
possibly damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,648,875 (GRCm39) |
S752R |
probably benign |
Het |
| Zfp268 |
T |
C |
4: 145,348,775 (GRCm39) |
Y71H |
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 |
|
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 |
|
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'- TCCAGCGGTGTGACATATGC -3'
(R):5'- AGTAGTCCGAGAGCCTTCTG -3'
Sequencing Primer
(F):5'- CTCCCTTGGAAAGAGTGTGAC -3'
(R):5'- AGTCCGAGAGCCTTCTGTAGATTTC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation