Incidental Mutation 'IGL01730:Dhrs3'
| ID |
105446 |
| 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 # |
IGL01730
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
144619397-144654779 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144646042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 117
(S117P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126154
(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 |
possibly damaging
Transcript: ENSMUST00000142808
AA Change: S117P
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122578
Gene: ENSMUSG00000066026
AA Change: S117P
| 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: S143P
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122552
Gene: ENSMUSG00000066026
AA Change: S143P
| 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: S117P
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126154
Gene: ENSMUSG00000066026
AA Change: S117P
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
G |
5: 36,119,583 (GRCm39) |
E287G |
probably damaging |
Het |
| Bhmt |
A |
T |
13: 93,761,917 (GRCm39) |
V122E |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,147,302 (GRCm39) |
I585T |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,861,841 (GRCm39) |
S645P |
probably benign |
Het |
| Derl1 |
A |
T |
15: 57,755,543 (GRCm39) |
F50Y |
possibly damaging |
Het |
| E2f8 |
A |
T |
7: 48,527,682 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,154,894 (GRCm39) |
|
probably benign |
Het |
| Fbxo15 |
A |
G |
18: 84,982,299 (GRCm39) |
I250M |
probably benign |
Het |
| Ghr |
A |
T |
15: 3,350,066 (GRCm39) |
S371T |
probably damaging |
Het |
| Gm5884 |
A |
T |
6: 128,622,669 (GRCm39) |
|
noncoding transcript |
Het |
| Grhl2 |
T |
C |
15: 37,338,018 (GRCm39) |
V496A |
probably benign |
Het |
| Gsap |
A |
G |
5: 21,495,152 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
T |
C |
10: 120,014,005 (GRCm39) |
D148G |
probably benign |
Het |
| Itga2 |
A |
T |
13: 114,990,947 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,987,810 (GRCm39) |
|
probably null |
Het |
| Kif20b |
A |
T |
19: 34,927,923 (GRCm39) |
K1022* |
probably null |
Het |
| Klhl17 |
G |
T |
4: 156,316,157 (GRCm39) |
S399* |
probably null |
Het |
| Lcp2 |
A |
T |
11: 34,000,943 (GRCm39) |
D42V |
possibly damaging |
Het |
| Lin7c |
G |
T |
2: 109,726,785 (GRCm39) |
G145* |
probably null |
Het |
| Lrba |
A |
G |
3: 86,648,731 (GRCm39) |
D2493G |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,996,992 (GRCm39) |
D41G |
probably damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,372,640 (GRCm39) |
Q785* |
probably null |
Het |
| Myl6b |
T |
C |
10: 128,332,211 (GRCm39) |
Y85C |
possibly damaging |
Het |
| Nup133 |
G |
T |
8: 124,664,972 (GRCm39) |
H240N |
probably benign |
Het |
| Or5b12 |
A |
C |
19: 12,896,926 (GRCm39) |
F249C |
probably damaging |
Het |
| Plk4 |
T |
C |
3: 40,760,285 (GRCm39) |
S394P |
probably benign |
Het |
| Prepl |
A |
G |
17: 85,388,603 (GRCm39) |
Y167H |
possibly damaging |
Het |
| Prkab1 |
A |
G |
5: 116,159,551 (GRCm39) |
L105P |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,616,728 (GRCm39) |
I3897L |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,916,434 (GRCm39) |
S469G |
probably benign |
Het |
| Serpinb3c |
T |
A |
1: 107,200,914 (GRCm39) |
S168C |
probably damaging |
Het |
| Snapc4 |
A |
T |
2: 26,253,736 (GRCm39) |
|
probably null |
Het |
| Sorcs2 |
A |
T |
5: 36,205,153 (GRCm39) |
M528K |
probably damaging |
Het |
| Spink10 |
T |
A |
18: 62,784,816 (GRCm39) |
|
probably null |
Het |
| Tent5b |
A |
T |
4: 133,213,833 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
C |
A |
6: 12,554,980 (GRCm39) |
Q301H |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,797,252 (GRCm39) |
F335I |
possibly damaging |
Het |
| Tshr |
A |
T |
12: 91,486,077 (GRCm39) |
D217V |
possibly damaging |
Het |
| Ttyh1 |
G |
A |
7: 4,128,720 (GRCm39) |
V206M |
possibly damaging |
Het |
| Tusc3 |
T |
G |
8: 39,617,880 (GRCm39) |
*348G |
probably null |
Het |
| Vmn2r76 |
G |
A |
7: 85,879,406 (GRCm39) |
T298I |
probably benign |
Het |
| Wdr47 |
T |
C |
3: 108,518,712 (GRCm39) |
F67L |
probably damaging |
Het |
|
| Other mutations in Dhrs3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation