Incidental Mutation 'IGL02280:Sdr9c7'
| ID |
289816 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sdr9c7
|
| Ensembl Gene |
ENSMUSG00000040127 |
| Gene Name |
4short chain dehydrogenase/reductase family 9C, member 7 |
| Synonyms |
Rdhs, 1810054F20Rik, Rdh20, Sdro, SDR-O |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL02280
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127734404-127747630 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 127738287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047134]
|
| AlphaFold |
Q8K3P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047134
|
| SMART Domains |
Protein: ENSMUSP00000036628
Gene: ENSMUSG00000040127
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
26 |
217 |
3.2e-41 |
PFAM |
|
Pfam:adh_short_C2
|
32 |
226 |
1.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149849
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155067
|
| 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 protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C2cd6 |
A |
G |
1: 59,117,040 (GRCm39) |
|
probably null |
Het |
| Car12 |
T |
C |
9: 66,653,857 (GRCm39) |
L71P |
probably damaging |
Het |
| Dusp29 |
A |
T |
14: 21,736,787 (GRCm39) |
I105N |
probably damaging |
Het |
| Galnt7 |
T |
G |
8: 57,989,824 (GRCm39) |
R467S |
probably damaging |
Het |
| Glra3 |
T |
A |
8: 56,394,006 (GRCm39) |
L39Q |
possibly damaging |
Het |
| Itsn2 |
A |
G |
12: 4,758,961 (GRCm39) |
K1526E |
possibly damaging |
Het |
| Klra2 |
T |
C |
6: 131,222,256 (GRCm39) |
R12G |
probably damaging |
Het |
| Ly6g6f |
G |
T |
17: 35,302,194 (GRCm39) |
H114Q |
probably benign |
Het |
| Mrc1 |
C |
A |
2: 14,249,024 (GRCm39) |
R187S |
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Myh8 |
T |
A |
11: 67,174,198 (GRCm39) |
|
probably benign |
Het |
| Or10ag59 |
T |
C |
2: 87,405,689 (GRCm39) |
I87T |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,695 (GRCm39) |
S93P |
probably damaging |
Het |
| Parva |
T |
C |
7: 112,159,226 (GRCm39) |
I164T |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,058,295 (GRCm39) |
Q233L |
probably damaging |
Het |
| Pcdhb4 |
T |
G |
18: 37,440,735 (GRCm39) |
V15G |
probably benign |
Het |
| Pnpla7 |
T |
A |
2: 24,901,589 (GRCm39) |
D538E |
probably benign |
Het |
| Pwp2 |
A |
T |
10: 78,019,934 (GRCm39) |
I30N |
probably damaging |
Het |
| Robo2 |
G |
T |
16: 73,843,704 (GRCm39) |
D170E |
probably damaging |
Het |
| Scara5 |
A |
G |
14: 65,968,227 (GRCm39) |
M167V |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,473,165 (GRCm39) |
C4836S |
probably damaging |
Het |
| Taar7d |
A |
T |
10: 23,904,006 (GRCm39) |
D296V |
probably damaging |
Het |
|
| Other mutations in Sdr9c7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Sdr9c7
|
APN |
10 |
127,745,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00857:Sdr9c7
|
APN |
10 |
127,734,728 (GRCm39) |
missense |
probably benign |
|
|
IGL02668:Sdr9c7
|
APN |
10 |
127,738,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0047:Sdr9c7
|
UTSW |
10 |
127,739,541 (GRCm39) |
missense |
probably benign |
|
|
R0047:Sdr9c7
|
UTSW |
10 |
127,739,541 (GRCm39) |
missense |
probably benign |
|
|
R0325:Sdr9c7
|
UTSW |
10 |
127,734,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0440:Sdr9c7
|
UTSW |
10 |
127,734,822 (GRCm39) |
splice site |
probably benign |
|
|
R1720:Sdr9c7
|
UTSW |
10 |
127,738,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1936:Sdr9c7
|
UTSW |
10 |
127,739,503 (GRCm39) |
missense |
probably benign |
|
|
R4790:Sdr9c7
|
UTSW |
10 |
127,739,448 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5145:Sdr9c7
|
UTSW |
10 |
127,738,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5241:Sdr9c7
|
UTSW |
10 |
127,745,659 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6381:Sdr9c7
|
UTSW |
10 |
127,739,542 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8024:Sdr9c7
|
UTSW |
10 |
127,734,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8228:Sdr9c7
|
UTSW |
10 |
127,734,544 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8939:Sdr9c7
|
UTSW |
10 |
127,734,776 (GRCm39) |
missense |
probably benign |
|
|
R9020:Sdr9c7
|
UTSW |
10 |
127,745,659 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Sdr9c7
|
UTSW |
10 |
127,738,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation