Incidental Mutation 'IGL02236:Dhrs3'
ID |
285878 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dhrs3
|
Ensembl Gene |
ENSMUSG00000066026 |
Gene Name |
dehydrogenase/reductase 3 |
Synonyms |
dehydrogenase/reductase (SDR family) member 3, retSDR1, Rsdr1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02236
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
144619397-144654779 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 144620133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 17
(I17L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122552
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084184]
[ENSMUST00000105744]
[ENSMUST00000142808]
[ENSMUST00000154208]
[ENSMUST00000171001]
|
AlphaFold |
O88876 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084184
AA Change: I17L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000081200 Gene: ENSMUSG00000066026 AA Change: I17L
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
39 |
121 |
1.7e-19 |
PFAM |
Pfam:KR
|
40 |
119 |
1.5e-16 |
PFAM |
Pfam:Polysacc_synt_2
|
41 |
121 |
1.3e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105744
|
SMART Domains |
Protein: ENSMUSP00000101370 Gene: ENSMUSG00000066026
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
13 |
92 |
2.1e-18 |
PFAM |
Pfam:KR
|
14 |
93 |
1.5e-15 |
PFAM |
Pfam:Polysacc_synt_2
|
15 |
90 |
4.2e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128926
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142808
|
SMART Domains |
Protein: ENSMUSP00000122578 Gene: ENSMUSG00000066026
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
13 |
146 |
6.1e-29 |
PFAM |
Pfam:KR
|
14 |
139 |
5.9e-20 |
PFAM |
Pfam:Polysacc_synt_2
|
15 |
109 |
4.2e-10 |
PFAM |
Pfam:Epimerase
|
15 |
124 |
3.8e-8 |
PFAM |
Pfam:adh_short_C2
|
19 |
146 |
3.3e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154208
AA Change: I17L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122552 Gene: ENSMUSG00000066026 AA Change: I17L
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
39 |
233 |
7.8e-42 |
PFAM |
Pfam:KR
|
40 |
213 |
2.3e-21 |
PFAM |
Pfam:Polysacc_synt_2
|
41 |
132 |
2.8e-9 |
PFAM |
Pfam:adh_short_C2
|
45 |
205 |
4.8e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171001
|
SMART Domains |
Protein: ENSMUSP00000126154 Gene: ENSMUSG00000066026
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
13 |
181 |
2.1e-34 |
PFAM |
Pfam:KR
|
14 |
191 |
2.7e-21 |
PFAM |
Pfam:Polysacc_synt_2
|
15 |
106 |
1.8e-9 |
PFAM |
Pfam:Epimerase
|
15 |
124 |
2e-7 |
PFAM |
Pfam:adh_short_C2
|
19 |
179 |
2e-14 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Short-chain dehydrogenases/reductases (SDRs), such as DHRS3, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM, Jun 2009] PHENOTYPE: Mice homozygous for a targeted mutation die before weaning age. Mice homozygous for a gene trap allele exhibit perinatal lethality, altered retinoid metabolism and heart, craniofacial and skeletal defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Baz1b |
T |
C |
5: 135,246,138 (GRCm39) |
L529P |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,197,399 (GRCm39) |
D995E |
probably benign |
Het |
Cd22 |
T |
C |
7: 30,566,893 (GRCm39) |
N607S |
possibly damaging |
Het |
Ddx10 |
T |
A |
9: 53,146,682 (GRCm39) |
D180V |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,725,672 (GRCm39) |
Y709H |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 30,868,747 (GRCm39) |
K394* |
probably null |
Het |
Flnc |
T |
A |
6: 29,454,375 (GRCm39) |
I1896N |
probably damaging |
Het |
Glipr1l2 |
A |
G |
10: 111,928,534 (GRCm39) |
Y143C |
probably damaging |
Het |
Lmo7 |
T |
C |
14: 102,163,524 (GRCm39) |
|
probably benign |
Het |
Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,241,888 (GRCm39) |
S98P |
probably benign |
Het |
Myf5 |
A |
G |
10: 107,320,051 (GRCm39) |
S200P |
possibly damaging |
Het |
Or52r1b |
T |
G |
7: 102,690,928 (GRCm39) |
S76A |
possibly damaging |
Het |
Pramel12 |
G |
A |
4: 143,143,512 (GRCm39) |
V93I |
probably benign |
Het |
Recql5 |
A |
C |
11: 115,784,856 (GRCm39) |
S824A |
probably benign |
Het |
Reg2 |
A |
G |
6: 78,383,188 (GRCm39) |
E45G |
probably damaging |
Het |
Rergl |
T |
C |
6: 139,471,918 (GRCm39) |
D77G |
probably benign |
Het |
Rnf224 |
T |
C |
2: 25,126,260 (GRCm39) |
D31G |
probably damaging |
Het |
Sema4c |
C |
T |
1: 36,592,166 (GRCm39) |
S227N |
probably damaging |
Het |
Sgsm2 |
C |
T |
11: 74,750,698 (GRCm39) |
G439D |
probably damaging |
Het |
Smap2 |
T |
A |
4: 120,832,587 (GRCm39) |
M185L |
probably benign |
Het |
Spty2d1 |
A |
G |
7: 46,647,360 (GRCm39) |
V523A |
probably benign |
Het |
Stk17b |
C |
A |
1: 53,803,247 (GRCm39) |
R184L |
probably damaging |
Het |
Syt13 |
A |
G |
2: 92,771,210 (GRCm39) |
D99G |
probably damaging |
Het |
Trav14-1 |
T |
A |
14: 53,791,763 (GRCm39) |
S38T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,700,812 (GRCm39) |
|
probably benign |
Het |
Usp17la |
G |
A |
7: 104,510,353 (GRCm39) |
W319* |
probably null |
Het |
Vmn2r73 |
T |
C |
7: 85,521,902 (GRCm39) |
T146A |
probably benign |
Het |
Vwa3b |
C |
T |
1: 37,193,132 (GRCm39) |
|
probably benign |
Het |
Zfp13 |
A |
T |
17: 23,799,739 (GRCm39) |
|
probably benign |
Het |
Zscan18 |
A |
C |
7: 12,503,251 (GRCm39) |
D769E |
probably benign |
Het |
|
Other mutations in Dhrs3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01730:Dhrs3
|
APN |
4 |
144,646,042 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02226:Dhrs3
|
APN |
4 |
144,650,519 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02728:Dhrs3
|
APN |
4 |
144,646,642 (GRCm39) |
missense |
probably damaging |
0.98 |
R0079:Dhrs3
|
UTSW |
4 |
144,646,618 (GRCm39) |
missense |
probably damaging |
0.99 |
R0734:Dhrs3
|
UTSW |
4 |
144,653,746 (GRCm39) |
missense |
probably damaging |
0.99 |
R1474:Dhrs3
|
UTSW |
4 |
144,646,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R1632:Dhrs3
|
UTSW |
4 |
144,620,116 (GRCm39) |
missense |
probably benign |
0.30 |
R2010:Dhrs3
|
UTSW |
4 |
144,653,758 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3162:Dhrs3
|
UTSW |
4 |
144,646,016 (GRCm39) |
missense |
possibly damaging |
0.80 |
R3162:Dhrs3
|
UTSW |
4 |
144,646,016 (GRCm39) |
missense |
possibly damaging |
0.80 |
R3176:Dhrs3
|
UTSW |
4 |
144,650,510 (GRCm39) |
missense |
probably benign |
0.00 |
R3276:Dhrs3
|
UTSW |
4 |
144,650,510 (GRCm39) |
missense |
probably benign |
0.00 |
R3440:Dhrs3
|
UTSW |
4 |
144,646,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R3709:Dhrs3
|
UTSW |
4 |
144,620,281 (GRCm39) |
critical splice donor site |
probably null |
|
R3795:Dhrs3
|
UTSW |
4 |
144,645,962 (GRCm39) |
missense |
probably damaging |
0.99 |
R5571:Dhrs3
|
UTSW |
4 |
144,620,134 (GRCm39) |
missense |
probably benign |
0.34 |
R5943:Dhrs3
|
UTSW |
4 |
144,646,546 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6457:Dhrs3
|
UTSW |
4 |
144,646,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R7607:Dhrs3
|
UTSW |
4 |
144,650,510 (GRCm39) |
missense |
probably benign |
0.00 |
R8144:Dhrs3
|
UTSW |
4 |
144,646,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R8371:Dhrs3
|
UTSW |
4 |
144,645,953 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9029:Dhrs3
|
UTSW |
4 |
144,653,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R9112:Dhrs3
|
UTSW |
4 |
144,653,769 (GRCm39) |
missense |
probably benign |
0.41 |
R9698:Dhrs3
|
UTSW |
4 |
144,646,508 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Posted On |
2015-04-16 |