Incidental Mutation 'R3431:Dhrs7'
| ID |
334587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhrs7
|
| Ensembl Gene |
ENSMUSG00000021094 |
| Gene Name |
dehydrogenase/reductase 7 |
| Synonyms |
2310016E22Rik, 5730564L20Rik, dehydrogenase/reductase (SDR family) member 7, retDSR4, retSDR4 |
| MMRRC Submission |
040649-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R3431 (G1)
|
| Quality Score |
44 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
72697127-72711678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72711501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 12
(L12Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021512]
[ENSMUST00000220821]
|
| AlphaFold |
Q9CXR1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021512
AA Change: L12Q
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000021512
Gene: ENSMUSG00000021094
AA Change: L12Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:KR
|
51 |
227 |
2.5e-11 |
PFAM |
|
Pfam:adh_short
|
51 |
250 |
4.4e-52 |
PFAM |
|
Pfam:adh_short_C2
|
57 |
267 |
1.3e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220821
AA Change: L12Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221674
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000221750
AA Change: L9Q
|
| Meta Mutation Damage Score |
0.1954 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (41/41) |
| 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, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. [provided by RefSeq, Apr 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,746,560 (GRCm39) |
H140R |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 89,855,312 (GRCm39) |
|
probably benign |
Het |
| Apob |
T |
G |
12: 8,060,778 (GRCm39) |
F3054V |
probably damaging |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Calcb |
A |
T |
7: 114,319,064 (GRCm39) |
R30W |
probably damaging |
Het |
| Cbl |
T |
C |
9: 44,062,743 (GRCm39) |
*914W |
probably null |
Het |
| Chd4 |
A |
G |
6: 125,097,523 (GRCm39) |
|
probably benign |
Het |
| Clec4a2 |
A |
T |
6: 123,116,370 (GRCm39) |
|
probably null |
Het |
| Crb2 |
T |
A |
2: 37,682,229 (GRCm39) |
V870E |
probably benign |
Het |
| Cyp2c39 |
A |
G |
19: 39,525,306 (GRCm39) |
E203G |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,413 (GRCm39) |
Y1382C |
probably benign |
Het |
| Efs |
C |
T |
14: 55,157,681 (GRCm39) |
R117Q |
probably damaging |
Het |
| Evl |
T |
C |
12: 108,614,567 (GRCm39) |
|
probably benign |
Het |
| Fbxo16 |
T |
C |
14: 65,531,233 (GRCm39) |
F46L |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,822,354 (GRCm39) |
E6029G |
possibly damaging |
Het |
| Gm20775 |
A |
T |
Y: 10,641,956 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4924 |
T |
A |
10: 82,214,864 (GRCm39) |
Y887* |
probably null |
Het |
| H60c |
G |
T |
10: 3,210,382 (GRCm39) |
R56S |
possibly damaging |
Het |
| Hbq1a |
T |
G |
11: 32,250,715 (GRCm39) |
S133A |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,277,948 (GRCm39) |
E92G |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,892,843 (GRCm39) |
E46D |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mmp21 |
T |
C |
7: 133,280,479 (GRCm39) |
T164A |
probably benign |
Het |
| Mthfd2 |
T |
C |
6: 83,288,330 (GRCm39) |
R142G |
probably benign |
Het |
| Mup4 |
T |
G |
4: 59,959,192 (GRCm39) |
|
probably null |
Het |
| Npas3 |
A |
T |
12: 54,115,832 (GRCm39) |
Q900L |
probably damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,022,205 (GRCm39) |
D141G |
probably damaging |
Het |
| Rap2a |
G |
T |
14: 120,741,170 (GRCm39) |
A158S |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 89,113,695 (GRCm39) |
T1705A |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,486,876 (GRCm39) |
V3834E |
probably damaging |
Het |
| Taf5 |
A |
C |
19: 47,064,272 (GRCm39) |
K405T |
probably damaging |
Het |
| Tbc1d19 |
T |
C |
5: 54,005,548 (GRCm39) |
|
probably benign |
Het |
| Tmem232 |
A |
T |
17: 65,572,297 (GRCm39) |
|
probably null |
Het |
| Tssk4 |
A |
G |
14: 55,889,152 (GRCm39) |
N226S |
probably damaging |
Het |
| Tulp4 |
C |
A |
17: 6,257,239 (GRCm39) |
S311R |
probably benign |
Het |
| Uggt1 |
C |
A |
1: 36,249,140 (GRCm39) |
E267* |
probably null |
Het |
| Usp34 |
T |
C |
11: 23,320,466 (GRCm39) |
I917T |
possibly damaging |
Het |
|
| Other mutations in Dhrs7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Dhrs7
|
APN |
12 |
72,706,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00715:Dhrs7
|
APN |
12 |
72,699,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02398:Dhrs7
|
APN |
12 |
72,711,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Dhrs7
|
UTSW |
12 |
72,699,860 (GRCm39) |
splice site |
probably benign |
|
|
R0691:Dhrs7
|
UTSW |
12 |
72,699,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1640:Dhrs7
|
UTSW |
12 |
72,699,089 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1696:Dhrs7
|
UTSW |
12 |
72,699,894 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1727:Dhrs7
|
UTSW |
12 |
72,706,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Dhrs7
|
UTSW |
12 |
72,699,939 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2046:Dhrs7
|
UTSW |
12 |
72,699,040 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2124:Dhrs7
|
UTSW |
12 |
72,699,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2205:Dhrs7
|
UTSW |
12 |
72,703,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2356:Dhrs7
|
UTSW |
12 |
72,699,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4492:Dhrs7
|
UTSW |
12 |
72,699,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4744:Dhrs7
|
UTSW |
12 |
72,699,025 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4747:Dhrs7
|
UTSW |
12 |
72,699,892 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5050:Dhrs7
|
UTSW |
12 |
72,704,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5076:Dhrs7
|
UTSW |
12 |
72,706,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5678:Dhrs7
|
UTSW |
12 |
72,704,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6361:Dhrs7
|
UTSW |
12 |
72,711,433 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7895:Dhrs7
|
UTSW |
12 |
72,699,234 (GRCm39) |
splice site |
probably null |
|
|
R8432:Dhrs7
|
UTSW |
12 |
72,711,581 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGGCTCAGCTTGGCAAC -3'
(R):5'- CTTCTATTGCAACACCCCGG -3'
Sequencing Primer
(F):5'- AACAGCTGGGAGGGACCTC -3'
(R):5'- AGTCTTGCACGCAGTAGG -3'
|
| Posted On |
2015-09-15 |
Incidental Mutation