Incidental Mutation 'R3709:Dhrs3'
| ID |
259479 |
| 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 |
040702-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3709 (G1)
|
| Quality Score |
194 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
144619397-144654779 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 144620281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084184]
[ENSMUST00000105744]
[ENSMUST00000142808]
[ENSMUST00000142808]
[ENSMUST00000154208]
[ENSMUST00000171001]
[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 null
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 null
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 null
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 null
Transcript: ENSMUST00000154208
|
| SMART Domains |
Protein: ENSMUSP00000122552
Gene: ENSMUSG00000066026
| 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 null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Meta Mutation Damage Score |
0.9591 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
G |
11: 48,910,480 (GRCm39) |
D651A |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,788,738 (GRCm39) |
N1039S |
probably benign |
Het |
| Abcc2 |
G |
T |
19: 43,786,885 (GRCm39) |
V169F |
possibly damaging |
Het |
| Adcy8 |
T |
C |
15: 64,597,384 (GRCm39) |
|
probably benign |
Het |
| Aida |
C |
A |
1: 183,085,610 (GRCm39) |
|
probably null |
Het |
| Armc8 |
A |
G |
9: 99,402,550 (GRCm39) |
I333T |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Ccdc92b |
C |
A |
11: 74,528,933 (GRCm39) |
R146S |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,892,628 (GRCm39) |
D264G |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,381,009 (GRCm39) |
S2804P |
possibly damaging |
Het |
| Cic |
A |
G |
7: 24,986,406 (GRCm39) |
D1276G |
probably damaging |
Het |
| Cldn19 |
T |
C |
4: 119,114,094 (GRCm39) |
S79P |
possibly damaging |
Het |
| Ctdp1 |
G |
A |
18: 80,493,428 (GRCm39) |
Q356* |
probably null |
Het |
| Cyp2c69 |
A |
G |
19: 39,839,667 (GRCm39) |
|
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,223,815 (GRCm39) |
W1054R |
probably damaging |
Het |
| Gfral |
G |
A |
9: 76,100,725 (GRCm39) |
R238* |
probably null |
Het |
| Gm10322 |
C |
A |
10: 59,451,941 (GRCm39) |
D19E |
possibly damaging |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Idh3a |
T |
C |
9: 54,493,810 (GRCm39) |
S4P |
possibly damaging |
Het |
| Il15ra |
G |
T |
2: 11,735,458 (GRCm39) |
|
probably null |
Het |
| Ipo8 |
A |
T |
6: 148,707,842 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
G |
A |
7: 80,366,835 (GRCm39) |
T1595I |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 34,212,400 (GRCm39) |
|
probably null |
Het |
| Klrb1a |
T |
C |
6: 128,595,466 (GRCm39) |
D96G |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,587,454 (GRCm39) |
V165M |
unknown |
Het |
| Lrp4 |
A |
C |
2: 91,320,811 (GRCm39) |
T975P |
possibly damaging |
Het |
| Lsm14a |
T |
A |
7: 34,053,204 (GRCm39) |
I283F |
probably damaging |
Het |
| Mael |
T |
C |
1: 166,066,135 (GRCm39) |
D34G |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,455,015 (GRCm39) |
Q1302* |
probably null |
Het |
| Mctp1 |
T |
C |
13: 76,972,999 (GRCm39) |
|
probably null |
Het |
| Mlxip |
T |
C |
5: 123,585,537 (GRCm39) |
V642A |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,657,547 (GRCm39) |
E1066G |
possibly damaging |
Het |
| Naa35 |
T |
A |
13: 59,765,846 (GRCm39) |
|
probably benign |
Het |
| Nacc1 |
T |
A |
8: 85,403,828 (GRCm39) |
I16F |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,963,645 (GRCm39) |
N499K |
probably benign |
Het |
| Or10ab4 |
A |
G |
7: 107,655,004 (GRCm39) |
M272V |
possibly damaging |
Het |
| Osbpl10 |
C |
A |
9: 115,036,655 (GRCm39) |
P253Q |
probably benign |
Het |
| Ptpn21 |
G |
T |
12: 98,654,800 (GRCm39) |
S722R |
probably benign |
Het |
| Rab44 |
C |
T |
17: 29,358,843 (GRCm39) |
P344S |
probably benign |
Het |
| Rbms2 |
C |
T |
10: 127,979,312 (GRCm39) |
R139Q |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,709,002 (GRCm39) |
Y32H |
probably damaging |
Het |
| Slc6a15 |
A |
G |
10: 103,229,275 (GRCm39) |
I105V |
probably benign |
Het |
| Thumpd3 |
A |
G |
6: 113,032,652 (GRCm39) |
D130G |
possibly damaging |
Het |
| Trib1 |
A |
G |
15: 59,526,210 (GRCm39) |
Y260C |
probably damaging |
Het |
| Tsks |
G |
T |
7: 44,601,309 (GRCm39) |
R208L |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,577,585 (GRCm39) |
S22690* |
probably null |
Het |
| Ttyh2 |
T |
G |
11: 114,609,958 (GRCm39) |
S510A |
possibly damaging |
Het |
| Was |
G |
T |
X: 7,952,927 (GRCm39) |
S271R |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,213,725 (GRCm39) |
C20S |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 33,196,685 (GRCm39) |
Y253* |
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 |
|
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 |
|
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'- TGGTAGTGTTCCCTCTGCAAATG -3'
(R):5'- TGCCAAAACACAGTCCGGTG -3'
Sequencing Primer
(F):5'- TTGGTAACCAAAGCAGCC -3'
(R):5'- GATGAAACCGACTTGCTTCG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation