Incidental Mutation 'IGL03060:Dhrs2'
ID |
409413 |
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 # |
IGL03060
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
55459464-55478892 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 55474775 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 137
(Q137K)
|
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: Q137K
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000022820 Gene: ENSMUSG00000022209 AA Change: Q137K
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: Q137K
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000129115 Gene: ENSMUSG00000022209 AA Change: Q137K
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l2 |
G |
A |
19: 56,902,682 (GRCm39) |
Q720* |
probably null |
Het |
Amph |
A |
G |
13: 19,278,984 (GRCm39) |
E153G |
probably damaging |
Het |
Atad2 |
T |
C |
15: 57,985,842 (GRCm39) |
|
probably benign |
Het |
Atosa |
A |
G |
9: 74,917,450 (GRCm39) |
D683G |
probably damaging |
Het |
Cep152 |
C |
T |
2: 125,461,907 (GRCm39) |
|
probably benign |
Het |
Cntn2 |
C |
T |
1: 132,456,678 (GRCm39) |
V123I |
probably benign |
Het |
Fam124a |
A |
G |
14: 62,843,353 (GRCm39) |
Y287C |
probably benign |
Het |
Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
Gm9637 |
G |
A |
14: 19,402,173 (GRCm38) |
|
noncoding transcript |
Het |
Helz2 |
A |
G |
2: 180,871,015 (GRCm39) |
|
probably null |
Het |
Iars1 |
G |
A |
13: 49,843,923 (GRCm39) |
|
probably null |
Het |
Igll1 |
A |
T |
16: 16,680,291 (GRCm39) |
|
probably null |
Het |
Iqch |
A |
G |
9: 63,432,196 (GRCm39) |
Y361H |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,527,765 (GRCm39) |
H105Q |
probably benign |
Het |
Mapk6 |
A |
G |
9: 75,305,084 (GRCm39) |
M111T |
probably damaging |
Het |
Mrtfa |
G |
A |
15: 80,929,523 (GRCm39) |
R27W |
probably damaging |
Het |
Mt1 |
T |
A |
8: 94,906,522 (GRCm39) |
|
probably benign |
Het |
Myh7b |
A |
T |
2: 155,474,671 (GRCm39) |
D1768V |
probably damaging |
Het |
Myo6 |
A |
T |
9: 80,168,159 (GRCm39) |
Q441L |
probably benign |
Het |
Nt5c3b |
A |
T |
11: 100,327,045 (GRCm39) |
Y84N |
probably damaging |
Het |
Ntmt2 |
T |
C |
1: 163,544,692 (GRCm39) |
D97G |
probably damaging |
Het |
Or1e29 |
A |
G |
11: 73,667,289 (GRCm39) |
F288S |
probably damaging |
Het |
Paxx |
A |
G |
2: 25,350,196 (GRCm39) |
L137P |
probably damaging |
Het |
Ptprz1 |
T |
C |
6: 22,972,834 (GRCm39) |
V248A |
probably damaging |
Het |
Rif1 |
T |
A |
2: 52,002,149 (GRCm39) |
C1868S |
probably damaging |
Het |
Sec23a |
A |
T |
12: 59,032,891 (GRCm39) |
C403S |
probably benign |
Het |
Skint4 |
G |
A |
4: 111,975,432 (GRCm39) |
V131I |
probably benign |
Het |
Sugp2 |
T |
C |
8: 70,695,837 (GRCm39) |
V270A |
possibly damaging |
Het |
Tmed9 |
A |
G |
13: 55,743,321 (GRCm39) |
D151G |
possibly damaging |
Het |
Tubgcp4 |
A |
G |
2: 121,007,071 (GRCm39) |
|
probably benign |
Het |
Uaca |
A |
G |
9: 60,777,148 (GRCm39) |
R512G |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,676,169 (GRCm39) |
Y1999C |
possibly damaging |
Het |
Vwf |
T |
A |
6: 125,640,523 (GRCm39) |
C2320S |
probably damaging |
Het |
|
Other mutations in Dhrs2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01747:Dhrs2
|
APN |
14 |
55,472,120 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
2016-08-02 |