Incidental Mutation 'R1632:Dhrs3'
ID |
172838 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dhrs3
|
Ensembl Gene |
ENSMUSG00000066026 |
Gene Name |
dehydrogenase/reductase 3 |
Synonyms |
dehydrogenase/reductase (SDR family) member 3, retSDR1, Rsdr1 |
MMRRC Submission |
039669-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1632 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
144619397-144654779 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 144620116 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 11
(V11A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081200
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084184]
[ENSMUST00000105744]
[ENSMUST00000142808]
[ENSMUST00000154208]
[ENSMUST00000171001]
|
AlphaFold |
O88876 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084184
AA Change: V11A
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000081200 Gene: ENSMUSG00000066026 AA Change: V11A
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: V11A
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000122552 Gene: ENSMUSG00000066026 AA Change: V11A
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 |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.9%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Arhgap28 |
A |
T |
17: 68,156,069 (GRCm39) |
Y696N |
probably damaging |
Het |
Cachd1 |
A |
G |
4: 100,824,169 (GRCm39) |
T537A |
probably benign |
Het |
Capn15 |
A |
T |
17: 26,179,639 (GRCm39) |
F841Y |
probably damaging |
Het |
Card10 |
G |
A |
15: 78,675,420 (GRCm39) |
R396* |
probably null |
Het |
Chd9 |
A |
T |
8: 91,683,335 (GRCm39) |
K592* |
probably null |
Het |
Cyp2j8 |
T |
A |
4: 96,335,561 (GRCm39) |
H411L |
probably benign |
Het |
Dhcr24 |
G |
T |
4: 106,443,148 (GRCm39) |
M394I |
probably benign |
Het |
Dync1li2 |
A |
T |
8: 105,164,123 (GRCm39) |
I134N |
probably damaging |
Het |
Enpp4 |
G |
T |
17: 44,410,544 (GRCm39) |
S344Y |
probably damaging |
Het |
Ephb3 |
T |
C |
16: 21,031,687 (GRCm39) |
S14P |
probably benign |
Het |
Fancm |
T |
G |
12: 65,177,105 (GRCm39) |
I1983S |
probably damaging |
Het |
Fndc1 |
T |
C |
17: 7,992,032 (GRCm39) |
T555A |
unknown |
Het |
Gemin4 |
A |
T |
11: 76,101,815 (GRCm39) |
M982K |
probably benign |
Het |
Gtpbp2 |
A |
G |
17: 46,479,518 (GRCm39) |
R590G |
probably benign |
Het |
H2-M3 |
G |
A |
17: 37,582,054 (GRCm39) |
R170H |
probably benign |
Het |
Hoxa13 |
G |
T |
6: 52,236,917 (GRCm39) |
N278K |
probably damaging |
Het |
Hspb3 |
A |
G |
13: 113,799,589 (GRCm39) |
V147A |
probably benign |
Het |
Il6st |
G |
T |
13: 112,640,866 (GRCm39) |
D820Y |
possibly damaging |
Het |
Kdm7a |
A |
G |
6: 39,129,832 (GRCm39) |
V448A |
probably benign |
Het |
Kmt2b |
T |
C |
7: 30,283,387 (GRCm39) |
D991G |
probably damaging |
Het |
Kri1 |
T |
C |
9: 21,193,507 (GRCm39) |
D140G |
possibly damaging |
Het |
Limk2 |
A |
G |
11: 3,296,250 (GRCm39) |
L399P |
probably damaging |
Het |
Lrrc9 |
T |
A |
12: 72,506,794 (GRCm39) |
|
probably null |
Het |
Map2 |
C |
T |
1: 66,454,245 (GRCm39) |
T1045M |
possibly damaging |
Het |
Map4k5 |
T |
C |
12: 69,874,821 (GRCm39) |
I321V |
probably benign |
Het |
Minar1 |
T |
A |
9: 89,484,413 (GRCm39) |
H328L |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myh7b |
A |
G |
2: 155,462,445 (GRCm39) |
S383G |
probably benign |
Het |
Nhsl3 |
A |
G |
4: 129,116,459 (GRCm39) |
M735T |
possibly damaging |
Het |
Nostrin |
A |
G |
2: 69,006,078 (GRCm39) |
K254R |
probably benign |
Het |
Nphp1 |
G |
T |
2: 127,612,312 (GRCm39) |
P212T |
probably benign |
Het |
Or5ak20 |
A |
T |
2: 85,183,586 (GRCm39) |
M228K |
possibly damaging |
Het |
Pals1 |
T |
A |
12: 78,843,812 (GRCm39) |
Y5* |
probably null |
Het |
Pclo |
A |
C |
5: 14,730,017 (GRCm39) |
|
probably benign |
Het |
Phf19 |
G |
A |
2: 34,801,631 (GRCm39) |
R60W |
probably damaging |
Het |
Pou2af2 |
T |
C |
9: 51,201,702 (GRCm39) |
D118G |
probably damaging |
Het |
Psg18 |
G |
A |
7: 18,084,824 (GRCm39) |
P91S |
probably benign |
Het |
Rttn |
C |
T |
18: 89,027,460 (GRCm39) |
T525I |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,793,686 (GRCm39) |
M1268V |
probably benign |
Het |
Slc25a2 |
T |
C |
18: 37,770,740 (GRCm39) |
E263G |
possibly damaging |
Het |
Slc32a1 |
C |
T |
2: 158,455,810 (GRCm39) |
A155V |
possibly damaging |
Het |
Slc6a19 |
A |
T |
13: 73,838,027 (GRCm39) |
|
probably null |
Het |
Socs4 |
A |
G |
14: 47,527,034 (GRCm39) |
|
probably benign |
Het |
Tas2r118 |
A |
G |
6: 23,969,260 (GRCm39) |
I267T |
probably benign |
Het |
Tpte |
G |
A |
8: 22,839,363 (GRCm39) |
C470Y |
probably damaging |
Het |
Usp17la |
A |
T |
7: 104,510,118 (GRCm39) |
H241L |
probably benign |
Het |
Vmn2r72 |
T |
A |
7: 85,401,000 (GRCm39) |
I140F |
probably benign |
Het |
Zfp329 |
T |
C |
7: 12,544,876 (GRCm39) |
D216G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGTTCAAGAGTGACCAGGTGGG -3'
(R):5'- CACCTTAGAGAAAGAGTCATGCGGC -3'
Sequencing Primer
(F):5'- GGTGGGACGCCTCCTTTTC -3'
(R):5'- GGATGAAACCGACTTGCTTC -3'
|
Posted On |
2014-04-24 |