Incidental Mutation 'IGL00226:Dhrs7'
| ID |
2190 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dhrs7
|
| Ensembl Gene |
ENSMUSG00000021094 |
| Gene Name |
dehydrogenase/reductase 7 |
| Synonyms |
2310016E22Rik, 5730564L20Rik, dehydrogenase/reductase (SDR family) member 7, retDSR4, retSDR4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL00226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
72697127-72711678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72706124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 94
(C94R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021512]
[ENSMUST00000220821]
|
| AlphaFold |
Q9CXR1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021512
AA Change: C94R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021512
Gene: ENSMUSG00000021094
AA Change: C94R
| 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: C94R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221674
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221750
AA Change: C91R
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
C |
A |
3: 36,533,690 (GRCm39) |
|
probably benign |
Het |
| Ankib1 |
G |
A |
5: 3,777,573 (GRCm39) |
S439L |
probably benign |
Het |
| Cdcp3 |
T |
A |
7: 130,839,823 (GRCm39) |
|
probably null |
Het |
| Cpd |
G |
T |
11: 76,688,615 (GRCm39) |
H886N |
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,323,277 (GRCm39) |
H1369L |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,272,488 (GRCm39) |
N1068S |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,433,732 (GRCm39) |
D2329E |
possibly damaging |
Het |
| Eif1ad |
A |
G |
19: 5,418,212 (GRCm39) |
|
probably benign |
Het |
| Fam149a |
T |
C |
8: 45,792,380 (GRCm39) |
R693G |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,522,411 (GRCm39) |
T153S |
probably benign |
Het |
| Glg1 |
A |
T |
8: 111,886,481 (GRCm39) |
C1104S |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,134,341 (GRCm39) |
|
probably benign |
Het |
| Kctd6 |
C |
T |
14: 8,222,856 (GRCm38) |
R233C |
possibly damaging |
Het |
| Kpna3 |
A |
G |
14: 61,611,737 (GRCm39) |
V300A |
possibly damaging |
Het |
| Msh5 |
A |
T |
17: 35,248,857 (GRCm39) |
Y725* |
probably null |
Het |
| Myh2 |
T |
C |
11: 67,076,059 (GRCm39) |
S749P |
possibly damaging |
Het |
| Or2ag15 |
T |
A |
7: 106,340,908 (GRCm39) |
T78S |
probably benign |
Het |
| Or4c110 |
A |
G |
2: 88,831,683 (GRCm39) |
|
probably benign |
Het |
| Or5ac17 |
A |
T |
16: 59,036,859 (GRCm39) |
M39K |
probably damaging |
Het |
| Or8g19 |
T |
A |
9: 39,056,053 (GRCm39) |
I219N |
possibly damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,967,860 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
T |
A |
3: 122,588,006 (GRCm39) |
F391I |
probably damaging |
Het |
| Ptpn12 |
A |
C |
5: 21,203,666 (GRCm39) |
S371A |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,365,900 (GRCm39) |
Y254C |
probably damaging |
Het |
| Slc2a10 |
G |
A |
2: 165,356,700 (GRCm39) |
C120Y |
probably damaging |
Het |
| Spink5 |
G |
A |
18: 44,120,938 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,099,045 (GRCm39) |
Q1250R |
probably benign |
Het |
| Tph1 |
G |
T |
7: 46,306,294 (GRCm39) |
N222K |
probably benign |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,805 (GRCm39) |
D351V |
probably damaging |
Het |
| Zfp54 |
A |
G |
17: 21,653,821 (GRCm39) |
D105G |
possibly damaging |
Het |
| Zfp623 |
T |
C |
15: 75,820,052 (GRCm39) |
I336T |
probably damaging |
Het |
|
| Other mutations in Dhrs7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R3431:Dhrs7
|
UTSW |
12 |
72,711,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
| Posted On |
2011-12-09 |
Incidental Mutation