Incidental Mutation 'R0644:Dera'
| ID |
56999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dera
|
| Ensembl Gene |
ENSMUSG00000030225 |
| Gene Name |
deoxyribose-phosphate aldolase |
| Synonyms |
2500002K03Rik, 2010002D22Rik |
| MMRRC Submission |
038829-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0644 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
137731093-137814894 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 137760046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 165
(T165S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087675]
[ENSMUST00000203216]
[ENSMUST00000203693]
|
| AlphaFold |
Q91YP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087675
AA Change: T165S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000084959
Gene: ENSMUSG00000030225
AA Change: T165S
| Domain | Start | End | E-Value | Type |
|---|
|
DeoC
|
49 |
299 |
1.16e-79 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203136
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203216
|
| SMART Domains |
Protein: ENSMUSP00000145264
Gene: ENSMUSG00000030225
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DeoC
|
2 |
97 |
1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203693
AA Change: T165S
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000144935
Gene: ENSMUSG00000030225
AA Change: T165S
| Domain | Start | End | E-Value | Type |
|---|
|
DeoC
|
49 |
271 |
4.4e-50 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203754
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204356
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000204779
AA Change: T41S
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
T |
9: 44,185,996 (GRCm39) |
I625N |
possibly damaging |
Het |
| Accs |
A |
G |
2: 93,669,574 (GRCm39) |
L282P |
probably damaging |
Het |
| Acsbg1 |
T |
A |
9: 54,517,110 (GRCm39) |
I568F |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atp5po |
A |
T |
16: 91,723,372 (GRCm39) |
V73E |
probably damaging |
Het |
| Bcl9 |
T |
C |
3: 97,117,813 (GRCm39) |
S294G |
probably benign |
Het |
| C2cd5 |
A |
T |
6: 142,958,950 (GRCm39) |
M1003K |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,825,523 (GRCm39) |
|
probably null |
Het |
| Elf2 |
C |
T |
3: 51,215,552 (GRCm39) |
V53M |
probably damaging |
Het |
| Entpd5 |
A |
T |
12: 84,432,915 (GRCm39) |
F212L |
probably benign |
Het |
| Fndc3c1 |
T |
A |
X: 105,478,568 (GRCm39) |
T761S |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,807,241 (GRCm39) |
T1187A |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,187,533 (GRCm39) |
S95P |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,122 (GRCm39) |
|
probably null |
Het |
| Impdh2 |
G |
T |
9: 108,440,836 (GRCm39) |
V112L |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,329,868 (GRCm39) |
M81L |
probably damaging |
Het |
| Lactb |
T |
C |
9: 66,863,172 (GRCm39) |
R481G |
possibly damaging |
Het |
| Nacad |
C |
T |
11: 6,549,486 (GRCm39) |
C1235Y |
possibly damaging |
Het |
| Or5d37 |
T |
A |
2: 87,923,633 (GRCm39) |
M216L |
probably benign |
Het |
| Or5h26 |
G |
A |
16: 58,987,979 (GRCm39) |
H176Y |
probably damaging |
Het |
| Osbpl6 |
C |
T |
2: 76,425,184 (GRCm39) |
R878C |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
| Rab27a |
T |
A |
9: 73,002,705 (GRCm39) |
S211R |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,363,405 (GRCm39) |
|
probably null |
Het |
| Shank2 |
T |
C |
7: 143,965,586 (GRCm39) |
S1065P |
probably benign |
Het |
| Tent5d |
T |
C |
X: 106,914,251 (GRCm39) |
F111S |
probably damaging |
Het |
| Tgm4 |
A |
T |
9: 122,880,523 (GRCm39) |
D308V |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,303,054 (GRCm39) |
L182P |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,259,056 (GRCm39) |
I412T |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,487,656 (GRCm39) |
V777A |
probably benign |
Het |
|
| Other mutations in Dera |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02134:Dera
|
APN |
6 |
137,807,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02220:Dera
|
APN |
6 |
137,757,815 (GRCm39) |
splice site |
probably null |
|
|
IGL02449:Dera
|
APN |
6 |
137,757,815 (GRCm39) |
splice site |
probably null |
|
|
IGL03256:Dera
|
APN |
6 |
137,756,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0691:Dera
|
UTSW |
6 |
137,773,745 (GRCm39) |
intron |
probably benign |
|
|
R0733:Dera
|
UTSW |
6 |
137,773,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1478:Dera
|
UTSW |
6 |
137,807,193 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3950:Dera
|
UTSW |
6 |
137,814,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3951:Dera
|
UTSW |
6 |
137,814,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3952:Dera
|
UTSW |
6 |
137,814,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4561:Dera
|
UTSW |
6 |
137,757,736 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7687:Dera
|
UTSW |
6 |
137,813,878 (GRCm39) |
missense |
|
|
|
R7956:Dera
|
UTSW |
6 |
137,813,826 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8676:Dera
|
UTSW |
6 |
137,807,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9600:Dera
|
UTSW |
6 |
137,814,135 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9607:Dera
|
UTSW |
6 |
137,833,732 (GRCm39) |
missense |
unknown |
|
|
R9608:Dera
|
UTSW |
6 |
137,813,876 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1088:Dera
|
UTSW |
6 |
137,814,116 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCATTTCTCAAAGCCGCAC -3'
(R):5'- TGCCCCTAACTACACAGAGAGTCG -3'
Sequencing Primer
(F):5'- ACTGACCAATTGAGGTTTGTCC -3'
(R):5'- AGAGAGTCGTAACCTGTTCCTAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation