Incidental Mutation 'R5571:Dhrs3'
| ID |
435659 |
| 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 |
044395-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5571 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
144619397-144654779 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 144620134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 17
(I17S)
|
| 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: I17S
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000081200
Gene: ENSMUSG00000066026
AA Change: I17S
| 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: I17S
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000122552
Gene: ENSMUSG00000066026
AA Change: I17S
| 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 |
|
| Meta Mutation Damage Score |
0.1130 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.9%
|
| Validation Efficiency |
100% (59/59) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
A |
T |
3: 59,784,640 (GRCm39) |
H371L |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 80,002,382 (GRCm39) |
V1058A |
probably benign |
Het |
| Baiap2l2 |
T |
C |
15: 79,155,783 (GRCm39) |
H97R |
probably damaging |
Het |
| Bax |
A |
G |
7: 45,111,315 (GRCm39) |
S184P |
probably damaging |
Het |
| Bsph1 |
T |
G |
7: 13,184,840 (GRCm39) |
M1R |
probably null |
Het |
| Cbln2 |
A |
G |
18: 86,731,273 (GRCm39) |
D27G |
probably benign |
Het |
| Cntnap3 |
G |
A |
13: 65,051,572 (GRCm39) |
A28V |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,715,938 (GRCm39) |
R1641L |
unknown |
Het |
| Ep300 |
T |
C |
15: 81,527,418 (GRCm39) |
|
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,664,717 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,064,423 (GRCm39) |
E4793V |
probably damaging |
Het |
| Fbxw22 |
T |
G |
9: 109,232,156 (GRCm39) |
K80N |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,436,066 (GRCm39) |
E322G |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,855,994 (GRCm39) |
D1927G |
probably damaging |
Het |
| Fndc7 |
T |
C |
3: 108,763,724 (GRCm39) |
I639V |
possibly damaging |
Het |
| Folh1 |
T |
C |
7: 86,383,328 (GRCm39) |
Y473C |
probably damaging |
Het |
| Foxb2 |
T |
A |
19: 16,850,131 (GRCm39) |
M292L |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,605,265 (GRCm39) |
S41P |
probably damaging |
Het |
| Gmds |
A |
T |
13: 32,101,704 (GRCm39) |
|
probably null |
Het |
| Gp6 |
G |
T |
7: 4,371,899 (GRCm39) |
A302D |
probably damaging |
Het |
| Hmgcr |
A |
T |
13: 96,803,171 (GRCm39) |
M8K |
probably benign |
Het |
| Itpripl2 |
C |
T |
7: 118,089,092 (GRCm39) |
R489Q |
probably damaging |
Het |
| Kmo |
T |
C |
1: 175,474,760 (GRCm39) |
V175A |
possibly damaging |
Het |
| Lce1i |
C |
T |
3: 92,684,988 (GRCm39) |
G63S |
unknown |
Het |
| Lrp1b |
T |
C |
2: 41,298,354 (GRCm39) |
Q155R |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,995,588 (GRCm39) |
S541P |
possibly damaging |
Het |
| Neto2 |
C |
T |
8: 86,367,173 (GRCm39) |
D524N |
probably damaging |
Het |
| Oga |
T |
C |
19: 45,765,445 (GRCm39) |
T121A |
probably benign |
Het |
| Or1j10 |
A |
G |
2: 36,267,129 (GRCm39) |
T114A |
probably benign |
Het |
| Or2ak6 |
T |
A |
11: 58,592,877 (GRCm39) |
F117I |
probably damaging |
Het |
| Or5bw2 |
T |
C |
7: 6,573,824 (GRCm39) |
I278T |
possibly damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,569 (GRCm39) |
I174L |
probably benign |
Het |
| Ppp4r1 |
C |
T |
17: 66,110,856 (GRCm39) |
Q21* |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,570,334 (GRCm39) |
T4930S |
possibly damaging |
Het |
| Scart2 |
T |
A |
7: 139,829,036 (GRCm39) |
C232S |
probably damaging |
Het |
| Siae |
G |
A |
9: 37,528,219 (GRCm39) |
G64D |
probably benign |
Het |
| Slc14a2 |
T |
C |
18: 78,252,282 (GRCm39) |
M10V |
possibly damaging |
Het |
| Ssrp1 |
C |
G |
2: 84,874,669 (GRCm39) |
D496E |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,725,912 (GRCm39) |
S371P |
probably damaging |
Het |
| Taf6l |
G |
A |
19: 8,761,294 (GRCm39) |
R24W |
probably damaging |
Het |
| Tbkbp1 |
T |
C |
11: 97,039,555 (GRCm39) |
Q118R |
probably damaging |
Het |
| Tln2 |
C |
T |
9: 67,241,602 (GRCm39) |
G1001E |
possibly damaging |
Het |
| Tm2d3 |
A |
G |
7: 65,348,872 (GRCm39) |
N184D |
probably damaging |
Het |
| Tmprss2 |
A |
T |
16: 97,392,071 (GRCm39) |
W131R |
probably null |
Het |
| Ube2d2a |
A |
G |
18: 35,903,531 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,954,480 (GRCm39) |
Y1043H |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,407,975 (GRCm39) |
I2600K |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,539,168 (GRCm39) |
Y218C |
probably damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,950,106 (GRCm39) |
Y247C |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,192,463 (GRCm39) |
N699K |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,951,402 (GRCm39) |
V579A |
probably benign |
Het |
| Zfhx3 |
A |
T |
8: 109,682,623 (GRCm39) |
Q3354L |
unknown |
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 |
|
|
R3795:Dhrs3
|
UTSW |
4 |
144,645,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GCCCTGTCCTTTACATCTGAAAG -3'
(R):5'- AGAGTCCCTTTACCCTCAGC -3'
Sequencing Primer
(F):5'- GTCCTTTACATCTGAAAGGAGATCAG -3'
(R):5'- ACTCCAGGTGTCGCAGTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation