Incidental Mutation 'IGL02226:Dhrs3'
| ID |
285357 |
| 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 # |
IGL02226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
144619397-144654779 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 144650519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 248
(R248W)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000081200
Gene: ENSMUSG00000066026
| 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 |
possibly damaging
Transcript: ENSMUST00000105744
AA Change: R182W
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101370
Gene: ENSMUSG00000066026
AA Change: R182W
| 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 |
noncoding transcript
Transcript: ENSMUST00000133265
|
| 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 |
possibly damaging
Transcript: ENSMUST00000154208
AA Change: R248W
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122552
Gene: ENSMUSG00000066026
AA Change: R248W
| 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
AA Change: R222W
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126154
Gene: ENSMUSG00000066026
AA Change: R222W
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
C |
12: 53,057,250 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
G |
A |
8: 123,618,984 (GRCm39) |
R1602W |
probably damaging |
Het |
| Arhgap23 |
G |
T |
11: 97,342,426 (GRCm39) |
R236L |
probably benign |
Het |
| Aurkaip1 |
T |
C |
4: 155,917,028 (GRCm39) |
V92A |
probably benign |
Het |
| Cdh20 |
A |
T |
1: 104,881,816 (GRCm39) |
|
probably benign |
Het |
| Ctnnd2 |
A |
G |
15: 30,847,482 (GRCm39) |
N691S |
probably benign |
Het |
| Ddx24 |
A |
C |
12: 103,390,717 (GRCm39) |
D2E |
possibly damaging |
Het |
| Dennd5b |
A |
G |
6: 148,934,799 (GRCm39) |
S691P |
probably benign |
Het |
| Dlgap1 |
T |
C |
17: 70,823,029 (GRCm39) |
S5P |
probably damaging |
Het |
| Dnai4 |
A |
T |
4: 102,947,595 (GRCm39) |
I227K |
probably benign |
Het |
| Ep300 |
A |
T |
15: 81,497,613 (GRCm39) |
M510L |
unknown |
Het |
| Fbxo25 |
T |
C |
8: 13,973,922 (GRCm39) |
|
probably benign |
Het |
| Gm3252 |
A |
T |
14: 4,743,741 (GRCm38) |
K193M |
possibly damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,267,162 (GRCm39) |
|
probably null |
Het |
| Helz2 |
T |
C |
2: 180,873,483 (GRCm39) |
D2337G |
probably damaging |
Het |
| Idh1 |
A |
T |
1: 65,201,081 (GRCm39) |
M290K |
probably damaging |
Het |
| Layn |
T |
C |
9: 50,985,317 (GRCm39) |
S80G |
probably damaging |
Het |
| Ltbp4 |
C |
T |
7: 27,006,359 (GRCm39) |
E1440K |
probably damaging |
Het |
| Mri1 |
T |
C |
8: 84,982,924 (GRCm39) |
T166A |
probably damaging |
Het |
| Myod1 |
C |
T |
7: 46,027,730 (GRCm39) |
T290I |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,078,154 (GRCm39) |
L431* |
probably null |
Het |
| Nle1 |
A |
T |
11: 82,795,133 (GRCm39) |
Y299* |
probably null |
Het |
| Nlrp4c |
T |
A |
7: 6,069,828 (GRCm39) |
F576L |
possibly damaging |
Het |
| Nudt21 |
G |
T |
8: 94,746,329 (GRCm39) |
S123* |
probably null |
Het |
| Plekhg1 |
A |
C |
10: 3,895,916 (GRCm39) |
D436A |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,732 (GRCm39) |
V222A |
probably damaging |
Het |
| Ppp4r3c1 |
A |
C |
X: 88,975,518 (GRCm39) |
D226E |
probably damaging |
Het |
| Rbm14 |
A |
G |
19: 4,851,745 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
T |
A |
12: 51,436,164 (GRCm39) |
|
probably benign |
Het |
| Slc34a2 |
A |
G |
5: 53,225,073 (GRCm39) |
T405A |
probably benign |
Het |
| Slc39a9 |
T |
A |
12: 80,691,695 (GRCm39) |
M14K |
probably damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,691,696 (GRCm39) |
M14I |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,679,334 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,205,457 (GRCm39) |
R1057G |
unknown |
Het |
| Sptbn4 |
T |
G |
7: 27,065,132 (GRCm39) |
T2056P |
probably damaging |
Het |
| Ssrp1 |
T |
C |
2: 84,870,705 (GRCm39) |
L148P |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,938,093 (GRCm39) |
H985L |
probably damaging |
Het |
| Tmem44 |
A |
G |
16: 30,358,199 (GRCm39) |
|
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,603,808 (GRCm39) |
L11Q |
probably null |
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 |
|
IGL02236:Dhrs3
|
APN |
4 |
144,620,133 (GRCm39) |
missense |
probably benign |
|
|
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 |
Incidental Mutation