Incidental Mutation 'IGL01747:Dhrs2'
| ID |
153045 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dhrs2
|
| Ensembl Gene |
ENSMUSG00000022209 |
| Gene Name |
dehydrogenase/reductase member 2 |
| Synonyms |
5430405K24Rik, SDR family |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01747
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55459464-55478892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55472120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 4
(I4L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022820]
[ENSMUST00000165432]
|
| AlphaFold |
Q149L0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022820
AA Change: I4L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022820
Gene: ENSMUSG00000022209
AA Change: I4L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
38 |
206 |
2.2e-31 |
PFAM |
|
Pfam:KR
|
39 |
213 |
1.4e-11 |
PFAM |
|
Pfam:adh_short_C2
|
43 |
279 |
2.8e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165432
AA Change: I4L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129115
Gene: ENSMUSG00000022209
AA Change: I4L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
38 |
233 |
6.3e-52 |
PFAM |
|
Pfam:KR
|
39 |
213 |
9.1e-12 |
PFAM |
|
Pfam:adh_short_C2
|
43 |
279 |
1.8e-36 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
G |
13: 54,704,338 (GRCm39) |
|
probably null |
Het |
| Abca14 |
A |
G |
7: 119,877,310 (GRCm39) |
N986S |
probably benign |
Het |
| Adamts17 |
G |
A |
7: 66,701,759 (GRCm39) |
G702D |
probably damaging |
Het |
| Aox3 |
G |
A |
1: 58,198,817 (GRCm39) |
V671M |
probably damaging |
Het |
| Asnsd1 |
A |
T |
1: 53,387,254 (GRCm39) |
Y124* |
probably null |
Het |
| Astn2 |
A |
T |
4: 65,712,855 (GRCm39) |
M595K |
probably benign |
Het |
| Col2a1 |
T |
C |
15: 97,889,273 (GRCm39) |
|
probably benign |
Het |
| Fbxo4 |
A |
T |
15: 3,995,237 (GRCm39) |
L369* |
probably null |
Het |
| Gpbp1 |
G |
A |
13: 111,589,584 (GRCm39) |
R129C |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,750,697 (GRCm39) |
I2956L |
probably damaging |
Het |
| Myo16 |
C |
T |
8: 10,654,877 (GRCm39) |
T1843I |
probably damaging |
Het |
| Or1j14 |
T |
C |
2: 36,417,844 (GRCm39) |
L140P |
probably damaging |
Het |
| Or8k3b |
T |
C |
2: 86,521,045 (GRCm39) |
I91M |
possibly damaging |
Het |
| Pcdhb2 |
T |
G |
18: 37,429,356 (GRCm39) |
V86G |
probably damaging |
Het |
| Pskh1 |
T |
C |
8: 106,639,836 (GRCm39) |
M172T |
probably damaging |
Het |
| Slc38a10 |
T |
C |
11: 120,025,600 (GRCm39) |
|
probably benign |
Het |
| Spry2 |
C |
T |
14: 106,130,488 (GRCm39) |
D233N |
probably damaging |
Het |
| Tmem163 |
T |
A |
1: 127,596,457 (GRCm39) |
R84W |
probably damaging |
Het |
| Trappc11 |
T |
C |
8: 47,972,656 (GRCm39) |
I306V |
probably benign |
Het |
| Virma |
T |
C |
4: 11,526,877 (GRCm39) |
L1092P |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,702 (GRCm39) |
Y400C |
probably damaging |
Het |
|
| Other mutations in Dhrs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02510:Dhrs2
|
APN |
14 |
55,473,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02604:Dhrs2
|
APN |
14 |
55,474,778 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02746:Dhrs2
|
APN |
14 |
55,478,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03060:Dhrs2
|
APN |
14 |
55,474,775 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0179:Dhrs2
|
UTSW |
14 |
55,477,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Dhrs2
|
UTSW |
14 |
55,473,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0755:Dhrs2
|
UTSW |
14 |
55,472,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Dhrs2
|
UTSW |
14 |
55,478,298 (GRCm39) |
missense |
probably benign |
|
|
R1977:Dhrs2
|
UTSW |
14 |
55,472,112 (GRCm39) |
start codon destroyed |
probably null |
0.11 |
|
R3084:Dhrs2
|
UTSW |
14 |
55,477,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3086:Dhrs2
|
UTSW |
14 |
55,477,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3805:Dhrs2
|
UTSW |
14 |
55,472,205 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3806:Dhrs2
|
UTSW |
14 |
55,472,205 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4361:Dhrs2
|
UTSW |
14 |
55,478,646 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4754:Dhrs2
|
UTSW |
14 |
55,476,205 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4989:Dhrs2
|
UTSW |
14 |
55,474,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5307:Dhrs2
|
UTSW |
14 |
55,473,601 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7561:Dhrs2
|
UTSW |
14 |
55,474,698 (GRCm39) |
missense |
probably benign |
|
|
R8245:Dhrs2
|
UTSW |
14 |
55,478,637 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8296:Dhrs2
|
UTSW |
14 |
55,477,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Dhrs2
|
UTSW |
14 |
55,476,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Dhrs2
|
UTSW |
14 |
55,473,538 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8923:Dhrs2
|
UTSW |
14 |
55,478,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation