Incidental Mutation 'R2972:Dhrs7c'
| ID |
255248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhrs7c
|
| Ensembl Gene |
ENSMUSG00000033044 |
| Gene Name |
dehydrogenase/reductase 7C |
| Synonyms |
dehydrogenase/reductase (SDR family) member 7C, 1110001P11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2972 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
67689097-67706828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67706697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 285
(I285N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168612]
|
| AlphaFold |
Q8CHS7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040574
AA Change: I211N
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042780
Gene: ENSMUSG00000033044
AA Change: I211N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
11 |
136 |
1.5e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168612
AA Change: I285N
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130924
Gene: ENSMUSG00000033044
AA Change: I285N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:adh_short
|
38 |
237 |
2e-41 |
PFAM |
|
Pfam:adh_short_C2
|
43 |
238 |
3.4e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Card9 |
C |
T |
2: 26,247,222 (GRCm39) |
R309H |
probably damaging |
Het |
| Clec14a |
T |
A |
12: 58,314,360 (GRCm39) |
R421W |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,195,671 (GRCm39) |
N752S |
probably benign |
Het |
| Klrb1-ps1 |
A |
G |
6: 129,096,719 (GRCm39) |
|
noncoding transcript |
Het |
| Nin |
G |
A |
12: 70,109,487 (GRCm39) |
R151C |
probably damaging |
Het |
| Nsun6 |
A |
C |
2: 15,042,883 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
C |
T |
1: 81,169,485 (GRCm39) |
R81* |
probably null |
Het |
| Or1n2 |
G |
A |
2: 36,797,416 (GRCm39) |
V153M |
probably benign |
Het |
| Or4a69 |
G |
T |
2: 89,313,120 (GRCm39) |
R120S |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,410,644 (GRCm39) |
M2717K |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,867,540 (GRCm39) |
K5E |
possibly damaging |
Het |
| Rnf130 |
T |
A |
11: 49,984,627 (GRCm39) |
L309* |
probably null |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rxrg |
G |
A |
1: 167,466,715 (GRCm39) |
R422H |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,517 (GRCm39) |
I381N |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,133,847 (GRCm39) |
Y748H |
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,893 (GRCm39) |
Y537H |
probably benign |
Het |
|
| Other mutations in Dhrs7c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02031:Dhrs7c
|
APN |
11 |
67,706,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02168:Dhrs7c
|
APN |
11 |
67,706,693 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02198:Dhrs7c
|
APN |
11 |
67,706,628 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1403:Dhrs7c
|
UTSW |
11 |
67,702,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Dhrs7c
|
UTSW |
11 |
67,702,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1617:Dhrs7c
|
UTSW |
11 |
67,705,903 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2380:Dhrs7c
|
UTSW |
11 |
67,706,690 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3432:Dhrs7c
|
UTSW |
11 |
67,700,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3752:Dhrs7c
|
UTSW |
11 |
67,702,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4498:Dhrs7c
|
UTSW |
11 |
67,706,706 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4886:Dhrs7c
|
UTSW |
11 |
67,700,620 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5202:Dhrs7c
|
UTSW |
11 |
67,706,627 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6140:Dhrs7c
|
UTSW |
11 |
67,705,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7157:Dhrs7c
|
UTSW |
11 |
67,700,722 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7598:Dhrs7c
|
UTSW |
11 |
67,702,279 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7774:Dhrs7c
|
UTSW |
11 |
67,700,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9721:Dhrs7c
|
UTSW |
11 |
67,705,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9749:Dhrs7c
|
UTSW |
11 |
67,702,479 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAGACTGTTGGTTCACC -3'
(R):5'- GGGCCTATGACTTAAAAGGGATC -3'
Sequencing Primer
(F):5'- GCAGACTGTTGGTTCACCTAATGC -3'
(R):5'- TGACTTAAAAGGGATCTCACTGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation