Incidental Mutation 'R5241:Sdr9c7'
| ID |
400835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdr9c7
|
| Ensembl Gene |
ENSMUSG00000040127 |
| Gene Name |
4short chain dehydrogenase/reductase family 9C, member 7 |
| Synonyms |
Rdhs, 1810054F20Rik, Rdh20, Sdro, SDR-O |
| MMRRC Submission |
042812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5241 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127734404-127747630 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 127745659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 257
(I257S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047134]
|
| AlphaFold |
Q8K3P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047134
AA Change: I257S
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000036628
Gene: ENSMUSG00000040127
AA Change: I257S
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930033H14Rik |
A |
G |
10: 69,048,581 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
T |
C |
1: 25,150,871 (GRCm39) |
T881A |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,637,048 (GRCm39) |
C3464* |
probably null |
Het |
| Afp |
A |
G |
5: 90,649,473 (GRCm39) |
M347V |
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,068 (GRCm39) |
T1041A |
probably benign |
Het |
| Atl1 |
T |
C |
12: 70,005,887 (GRCm39) |
S398P |
possibly damaging |
Het |
| Atp8b4 |
G |
A |
2: 126,225,646 (GRCm39) |
P528L |
probably benign |
Het |
| Bahcc1 |
C |
A |
11: 120,162,229 (GRCm39) |
P176T |
probably damaging |
Het |
| Bsnd |
A |
G |
4: 106,345,182 (GRCm39) |
V88A |
probably benign |
Het |
| Dnah7c |
T |
A |
1: 46,569,660 (GRCm39) |
F687Y |
probably benign |
Het |
| Dok6 |
T |
C |
18: 89,616,913 (GRCm39) |
I23M |
possibly damaging |
Het |
| Fcgbp |
A |
T |
7: 27,784,624 (GRCm39) |
D228V |
probably damaging |
Het |
| Gatad2a |
G |
A |
8: 70,370,667 (GRCm39) |
Q107* |
probably null |
Het |
| Glis3 |
G |
T |
19: 28,327,423 (GRCm39) |
T663K |
probably benign |
Het |
| Gm10784 |
T |
A |
13: 50,099,129 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdmc2 |
C |
T |
15: 63,696,743 (GRCm39) |
R476H |
probably benign |
Het |
| Gsdmc3 |
A |
G |
15: 63,735,995 (GRCm39) |
S202P |
possibly damaging |
Het |
| Map3k8 |
T |
C |
18: 4,340,750 (GRCm39) |
E188G |
probably damaging |
Het |
| Mccc1 |
T |
A |
3: 36,028,345 (GRCm39) |
Q487L |
probably benign |
Het |
| Msantd1 |
A |
G |
5: 35,078,813 (GRCm39) |
D116G |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,095,275 (GRCm39) |
S212T |
probably benign |
Het |
| Nr1h4 |
A |
G |
10: 89,319,351 (GRCm39) |
Y158H |
probably damaging |
Het |
| Or4p19 |
T |
C |
2: 88,242,442 (GRCm39) |
T187A |
possibly damaging |
Het |
| Or51f1e |
T |
C |
7: 102,747,524 (GRCm39) |
V192A |
probably benign |
Het |
| Or6k8-ps1 |
T |
A |
1: 173,979,667 (GRCm39) |
I195N |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,269,451 (GRCm39) |
H272Q |
probably benign |
Het |
| Pdia5 |
T |
C |
16: 35,250,145 (GRCm39) |
N242S |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,761,857 (GRCm39) |
D1441E |
probably damaging |
Het |
| Runx2 |
G |
T |
17: 44,950,664 (GRCm39) |
Y203* |
probably null |
Het |
| Slitrk1 |
A |
G |
14: 109,150,444 (GRCm39) |
M89T |
probably benign |
Het |
| St14 |
G |
T |
9: 31,011,714 (GRCm39) |
C397* |
probably null |
Het |
| Tas2r123 |
T |
C |
6: 132,824,181 (GRCm39) |
I26T |
probably benign |
Het |
| Tmem144 |
A |
T |
3: 79,721,431 (GRCm39) |
M329K |
probably benign |
Het |
| Tmem252 |
T |
C |
19: 24,651,491 (GRCm39) |
M20T |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,203,066 (GRCm39) |
V473A |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 8,108,700 (GRCm39) |
C149R |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,312,704 (GRCm39) |
R58* |
probably null |
Het |
| Zer1 |
A |
C |
2: 29,994,982 (GRCm39) |
L471R |
probably damaging |
Het |
| Zfp101 |
C |
T |
17: 33,601,210 (GRCm39) |
C182Y |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGGGAGACTTGCTTTAAATGC -3'
(R):5'- AGCTGAGTATGCTCTTCTCTGC -3'
Sequencing Primer
(F):5'- GGAGACTTGCTTTAAATGCTGAATTG -3'
(R):5'- TTCTCTGCCCACAAGATATATGAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation