Incidental Mutation 'R6342:Dhrs9'
| ID |
513909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhrs9
|
| Ensembl Gene |
ENSMUSG00000027068 |
| Gene Name |
dehydrogenase/reductase 9 |
| Synonyms |
C730025I08Rik, Rdh15, dehydrogenase/reductase (SDR family) member 9 |
| MMRRC Submission |
044496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R6342 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69210806-69233430 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 69223531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 93
(T93M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063690]
|
| AlphaFold |
Q58NB6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063690
AA Change: T93M
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000069631
Gene: ENSMUSG00000027068
AA Change: T93M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:adh_short
|
30 |
222 |
2.3e-41 |
PFAM |
|
Pfam:adh_short_C2
|
36 |
237 |
1.4e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
97% (31/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoreductase activity toward hydroxysteroids and is able to convert 3-alpha-tetrahydroprogesterone to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone in the cytoplasm, and may additionally function as a transcriptional repressor in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa9 |
T |
C |
3: 95,204,101 (GRCm39) |
*346W |
probably null |
Het |
| Ap4b1 |
T |
C |
3: 103,720,684 (GRCm39) |
V118A |
possibly damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,626,942 (GRCm39) |
S183P |
probably damaging |
Het |
| Cadm3 |
T |
C |
1: 173,168,675 (GRCm39) |
T298A |
possibly damaging |
Het |
| Crtc1 |
A |
C |
8: 70,892,207 (GRCm39) |
M1R |
probably null |
Het |
| Dalrd3 |
A |
T |
9: 108,448,322 (GRCm39) |
K291* |
probably null |
Het |
| Dnmt1 |
G |
T |
9: 20,821,089 (GRCm39) |
S1267* |
probably null |
Het |
| Dsg1b |
T |
C |
18: 20,523,300 (GRCm39) |
I109T |
probably damaging |
Het |
| Epha3 |
C |
A |
16: 63,403,863 (GRCm39) |
R745L |
probably damaging |
Het |
| Evi2 |
A |
G |
11: 79,406,784 (GRCm39) |
S264P |
probably benign |
Het |
| Grin2a |
A |
T |
16: 9,397,198 (GRCm39) |
L963Q |
probably damaging |
Het |
| Klhdc7a |
T |
A |
4: 139,694,370 (GRCm39) |
R192S |
probably benign |
Het |
| Kynu |
G |
T |
2: 43,571,463 (GRCm39) |
D460Y |
probably benign |
Het |
| Lrfn2 |
G |
A |
17: 49,404,028 (GRCm39) |
G717D |
probably benign |
Het |
| Lrp3 |
C |
T |
7: 34,901,731 (GRCm39) |
D696N |
probably benign |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or51a5 |
T |
C |
7: 102,771,563 (GRCm39) |
T143A |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,755,644 (GRCm39) |
I579N |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,009,168 (GRCm39) |
Y2316N |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,351 (GRCm39) |
D430V |
probably damaging |
Het |
| Rp9 |
A |
T |
9: 22,361,154 (GRCm39) |
H44Q |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,558,735 (GRCm39) |
T1035A |
possibly damaging |
Het |
| Slc2a5 |
A |
C |
4: 150,223,983 (GRCm39) |
D225A |
possibly damaging |
Het |
| Tlx3 |
A |
T |
11: 33,152,567 (GRCm39) |
V176E |
possibly damaging |
Het |
| Trpv3 |
G |
A |
11: 73,174,689 (GRCm39) |
G352D |
probably damaging |
Het |
| Ubr4 |
C |
A |
4: 139,156,850 (GRCm39) |
H2292N |
possibly damaging |
Het |
| Wee2 |
A |
G |
6: 40,421,189 (GRCm39) |
H93R |
probably benign |
Het |
| Xirp2 |
T |
G |
2: 67,341,994 (GRCm39) |
L1412V |
possibly damaging |
Het |
| Zfat |
T |
C |
15: 68,052,831 (GRCm39) |
H321R |
probably damaging |
Het |
| Zfp623 |
C |
A |
15: 75,819,837 (GRCm39) |
C264* |
probably null |
Het |
| Zfp687 |
G |
C |
3: 94,919,188 (GRCm39) |
P195A |
probably benign |
Het |
|
| Other mutations in Dhrs9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2267:Dhrs9
|
UTSW |
2 |
69,223,197 (GRCm39) |
splice site |
probably benign |
|
|
R2425:Dhrs9
|
UTSW |
2 |
69,223,308 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4573:Dhrs9
|
UTSW |
2 |
69,227,985 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4582:Dhrs9
|
UTSW |
2 |
69,227,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Dhrs9
|
UTSW |
2 |
69,231,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5045:Dhrs9
|
UTSW |
2 |
69,223,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5048:Dhrs9
|
UTSW |
2 |
69,224,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5640:Dhrs9
|
UTSW |
2 |
69,224,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6630:Dhrs9
|
UTSW |
2 |
69,228,067 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7034:Dhrs9
|
UTSW |
2 |
69,223,520 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7157:Dhrs9
|
UTSW |
2 |
69,223,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7457:Dhrs9
|
UTSW |
2 |
69,231,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7610:Dhrs9
|
UTSW |
2 |
69,223,291 (GRCm39) |
missense |
unknown |
|
|
R7821:Dhrs9
|
UTSW |
2 |
69,224,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7851:Dhrs9
|
UTSW |
2 |
69,231,600 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGACACGGGCTTTGGAAAC -3'
(R):5'- GAGTCTATCTGGGCACATCC -3'
Sequencing Primer
(F):5'- GCTTTGGAAACTTAGCAGCC -3'
(R):5'- TGCTGCTGGAACTTAAGAGACATCC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation