Incidental Mutation 'R3795:Dhrs3'
| ID |
272720 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3795 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
144619397-144654779 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144645962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 116
(D116G)
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000133265
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142808
AA Change: D90G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122578
Gene: ENSMUSG00000066026
AA Change: D90G
| 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 damaging
Transcript: ENSMUST00000154208
AA Change: D116G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122552
Gene: ENSMUSG00000066026
AA Change: D116G
| 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 damaging
Transcript: ENSMUST00000171001
AA Change: D90G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126154
Gene: ENSMUSG00000066026
AA Change: D90G
| 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 |
|
| Meta Mutation Damage Score |
0.1938 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (32/33) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,212 (GRCm39) |
T10A |
probably benign |
Het |
| Adh1 |
T |
A |
3: 137,985,526 (GRCm39) |
L18H |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,084,714 (GRCm39) |
T426A |
probably benign |
Het |
| Capn13 |
C |
A |
17: 73,644,387 (GRCm39) |
V381L |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,778,735 (GRCm39) |
|
probably benign |
Het |
| Cmas |
T |
A |
6: 142,713,594 (GRCm39) |
D206E |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,077,590 (GRCm39) |
E1084G |
probably damaging |
Het |
| Cpz |
A |
G |
5: 35,669,093 (GRCm39) |
V346A |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,624,501 (GRCm39) |
E844G |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Lhx2 |
T |
C |
2: 38,243,359 (GRCm39) |
C12R |
probably damaging |
Het |
| Map3k2 |
T |
C |
18: 32,359,701 (GRCm39) |
M518T |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,293,793 (GRCm39) |
|
probably benign |
Het |
| Nlrp4e |
T |
A |
7: 23,020,228 (GRCm39) |
D238E |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,922,667 (GRCm39) |
Y6543H |
probably damaging |
Het |
| Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
| Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
| Psg20 |
A |
G |
7: 18,418,374 (GRCm39) |
V131A |
probably benign |
Het |
| Ptpro |
T |
C |
6: 137,357,307 (GRCm39) |
F266S |
probably benign |
Het |
| S100a7l2 |
T |
C |
3: 90,995,730 (GRCm39) |
I57M |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,747,522 (GRCm39) |
R663* |
probably null |
Het |
| Szt2 |
G |
T |
4: 118,248,927 (GRCm39) |
L586I |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,163,197 (GRCm39) |
I1113V |
probably damaging |
Het |
| Ube2ql1 |
G |
T |
13: 69,852,231 (GRCm39) |
A282E |
possibly damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,771,851 (GRCm39) |
M617L |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,085,466 (GRCm39) |
V676A |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,532,053 (GRCm39) |
|
probably null |
Het |
| Zbp1 |
T |
C |
2: 173,053,972 (GRCm39) |
H183R |
probably benign |
Het |
| Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
probably damaging |
Het |
| Zfp988 |
G |
A |
4: 147,416,040 (GRCm39) |
R158Q |
possibly damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCAGACACAGCTGGTATGG -3'
(R):5'- TTGCTGTTGAATGTCCCTGC -3'
Sequencing Primer
(F):5'- GCACCAGCGCCATTTATAAG -3'
(R):5'- TGAATGTCCCTGCAGGCATGAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation