Incidental Mutation 'R6361:Dhrs7'
| ID |
535637 |
| 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 |
044511-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R6361 (G1)
|
| Quality Score |
51.0072 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
72697127-72711678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 72711433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 32
(L32V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021512]
[ENSMUST00000220821]
|
| AlphaFold |
Q9CXR1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021512
AA Change: L35V
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021512
Gene: ENSMUSG00000021094
AA Change: L35V
| 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 benign
Transcript: ENSMUST00000220821
AA Change: L35V
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221750
AA Change: L32V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap1 |
C |
T |
15: 64,221,672 (GRCm39) |
|
probably null |
Het |
| Cabin1 |
G |
A |
10: 75,562,699 (GRCm39) |
A29V |
possibly damaging |
Het |
| Cadps |
G |
A |
14: 12,491,778 (GRCm38) |
Q791* |
probably null |
Het |
| Cdc14b |
T |
C |
13: 64,364,023 (GRCm39) |
|
probably null |
Het |
| Cep89 |
C |
T |
7: 35,097,472 (GRCm39) |
P33S |
probably damaging |
Het |
| Clec18a |
A |
G |
8: 111,807,661 (GRCm39) |
|
probably benign |
Het |
| Cln5 |
T |
A |
14: 103,313,637 (GRCm39) |
D296E |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,943,902 (GRCm39) |
S1191T |
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,832,455 (GRCm39) |
I480M |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,424,011 (GRCm39) |
T1645A |
probably benign |
Het |
| Eif2b3 |
A |
G |
4: 116,885,622 (GRCm39) |
T55A |
possibly damaging |
Het |
| Ercc6 |
T |
C |
14: 32,239,067 (GRCm39) |
Y52H |
probably benign |
Het |
| Fam170b |
C |
A |
14: 32,558,028 (GRCm39) |
Q288K |
unknown |
Het |
| Flt4 |
A |
G |
11: 49,521,405 (GRCm39) |
T442A |
probably benign |
Het |
| Gm19402 |
A |
T |
10: 77,525,895 (GRCm39) |
|
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,403,832 (GRCm39) |
I87T |
probably damaging |
Het |
| Hspb7 |
A |
G |
4: 141,149,860 (GRCm39) |
E82G |
possibly damaging |
Het |
| Itgb3 |
A |
G |
11: 104,556,408 (GRCm39) |
K750E |
possibly damaging |
Het |
| Itsn2 |
A |
G |
12: 4,679,655 (GRCm39) |
M155V |
probably benign |
Het |
| Marchf8 |
A |
T |
6: 116,379,062 (GRCm39) |
D332V |
probably null |
Het |
| Mst1r |
A |
G |
9: 107,793,052 (GRCm39) |
M1042V |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,587,725 (GRCm39) |
F2756L |
probably benign |
Het |
| Myl6b |
T |
A |
10: 128,333,078 (GRCm39) |
K55* |
probably null |
Het |
| Or1j19 |
A |
G |
2: 36,676,792 (GRCm39) |
N85S |
probably damaging |
Het |
| Or4c123 |
A |
T |
2: 89,126,990 (GRCm39) |
I208N |
probably damaging |
Het |
| Or4k51 |
G |
T |
2: 111,584,940 (GRCm39) |
L115F |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,027 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or8g50 |
A |
C |
9: 39,648,968 (GRCm39) |
N286H |
probably damaging |
Het |
| Pcca |
A |
G |
14: 122,875,794 (GRCm39) |
D141G |
probably benign |
Het |
| Pkd2 |
C |
T |
5: 104,634,546 (GRCm39) |
R526* |
probably null |
Het |
| Polr2a |
C |
A |
11: 69,634,163 (GRCm39) |
A756S |
probably damaging |
Het |
| Prkd2 |
T |
C |
7: 16,581,579 (GRCm39) |
S145P |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,162,915 (GRCm39) |
N451D |
possibly damaging |
Het |
| Rundc3a |
G |
A |
11: 102,291,621 (GRCm39) |
R358Q |
probably damaging |
Het |
| Spata31g1 |
A |
T |
4: 42,972,695 (GRCm39) |
D676V |
probably benign |
Het |
| Spef1l |
T |
A |
7: 139,556,585 (GRCm39) |
D134V |
possibly damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,744,610 (GRCm39) |
K339E |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,493,052 (GRCm39) |
I723T |
probably benign |
Het |
| Vwa2 |
A |
T |
19: 56,889,958 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
C |
1: 63,342,480 (GRCm39) |
R286S |
possibly damaging |
Het |
| Zfp422 |
G |
A |
6: 116,603,781 (GRCm39) |
H73Y |
probably damaging |
Het |
| Zfp868 |
T |
C |
8: 70,064,564 (GRCm39) |
H257R |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,775,175 (GRCm39) |
S1723G |
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 |
|
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 |
|
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'- AACAAATCAGGGCCATTTTCG -3'
(R):5'- CTTCTATTGCAACACCCCGG -3'
Sequencing Primer
(F):5'- GGGCCATTTTCGAATTAAGACAAGC -3'
(R):5'- AGTCTTGCACGCAGTAGG -3'
|
| Posted On |
2018-09-14 |
Incidental Mutation