Incidental Mutation 'IGL00778:Sdr9c7'
| ID |
13943 |
| 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: 0.084)
|
| Stock # |
IGL00778
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127734404-127747630 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127745697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 270
(S270P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047134]
|
| AlphaFold |
Q8K3P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047134
AA Change: S270P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036628
Gene: ENSMUSG00000040127
AA Change: S270P
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
G |
A |
14: 44,401,391 (GRCm39) |
H152Y |
probably benign |
Het |
| Abca1 |
T |
C |
4: 53,086,132 (GRCm39) |
D457G |
probably benign |
Het |
| Atp8a1 |
T |
G |
5: 67,817,246 (GRCm39) |
K913N |
possibly damaging |
Het |
| Cd180 |
G |
A |
13: 102,841,917 (GRCm39) |
S321N |
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,363,470 (GRCm39) |
N264D |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,387,109 (GRCm39) |
C1724S |
probably benign |
Het |
| Chil4 |
A |
G |
3: 106,109,113 (GRCm39) |
S397P |
probably benign |
Het |
| Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
| Csgalnact2 |
A |
T |
6: 118,103,233 (GRCm39) |
M1K |
probably null |
Het |
| Enpp3 |
C |
A |
10: 24,674,160 (GRCm39) |
C380F |
probably damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,266,546 (GRCm39) |
R967W |
probably damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,066,856 (GRCm39) |
D472E |
unknown |
Het |
| Klhl28 |
A |
T |
12: 64,996,840 (GRCm39) |
D500E |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,148,321 (GRCm39) |
|
probably benign |
Het |
| Mphosph8 |
A |
G |
14: 56,911,900 (GRCm39) |
I308V |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,190,868 (GRCm39) |
|
probably null |
Het |
| Nsmaf |
C |
T |
4: 6,435,056 (GRCm39) |
|
probably null |
Het |
| Padi6 |
T |
A |
4: 140,454,934 (GRCm39) |
I668L |
possibly damaging |
Het |
| Pigw |
A |
G |
11: 84,768,150 (GRCm39) |
I393T |
possibly damaging |
Het |
| Prg3 |
G |
A |
2: 84,824,076 (GRCm39) |
C212Y |
probably damaging |
Het |
| Pwp1 |
T |
C |
10: 85,715,752 (GRCm39) |
V267A |
probably benign |
Het |
| Raver2 |
C |
A |
4: 100,953,468 (GRCm39) |
Q79K |
probably benign |
Het |
| Sfmbt2 |
A |
G |
2: 10,406,818 (GRCm39) |
E39G |
probably damaging |
Het |
| Strada |
A |
G |
11: 106,061,976 (GRCm39) |
|
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,855,500 (GRCm39) |
|
probably benign |
Het |
| Zic3 |
A |
G |
X: 57,079,779 (GRCm39) |
Y424C |
probably damaging |
Het |
|
| Other mutations in Sdr9c7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00857:Sdr9c7
|
APN |
10 |
127,734,728 (GRCm39) |
missense |
probably benign |
|
|
IGL02280:Sdr9c7
|
APN |
10 |
127,738,287 (GRCm39) |
splice site |
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 |
2012-12-06 |
Incidental Mutation