Incidental Mutation 'R5145:Sdr9c7'
| ID |
395090 |
| 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 |
042729-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R5145 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127734404-127747630 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127738259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 179
(V179A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047134]
|
| AlphaFold |
Q8K3P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047134
AA Change: V179A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036628
Gene: ENSMUSG00000040127
AA Change: V179A
| 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
|
| Meta Mutation Damage Score |
0.3645 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
G |
A |
15: 11,285,962 (GRCm39) |
G724R |
probably damaging |
Het |
| Adgrg7 |
T |
A |
16: 56,562,682 (GRCm39) |
I552L |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,943 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,613,582 (GRCm39) |
T88A |
probably benign |
Het |
| Col6a5 |
T |
G |
9: 105,811,444 (GRCm39) |
I692L |
unknown |
Het |
| Cry2 |
T |
C |
2: 92,243,405 (GRCm39) |
I479V |
probably benign |
Het |
| Ddx21 |
T |
C |
10: 62,423,318 (GRCm39) |
|
probably null |
Het |
| Efcab12 |
T |
A |
6: 115,800,238 (GRCm39) |
I262F |
probably damaging |
Het |
| Eif2ak2 |
T |
C |
17: 79,183,633 (GRCm39) |
D72G |
possibly damaging |
Het |
| Fry |
T |
C |
5: 150,293,689 (GRCm39) |
F461L |
probably damaging |
Het |
| Gm38706 |
G |
A |
6: 130,460,731 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9772 |
C |
T |
17: 22,226,107 (GRCm39) |
C59Y |
probably damaging |
Het |
| Meig1 |
T |
C |
2: 3,410,263 (GRCm39) |
E79G |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mfsd2b |
T |
A |
12: 4,915,908 (GRCm39) |
|
probably benign |
Het |
| Nfatc2 |
A |
C |
2: 168,431,987 (GRCm39) |
I42S |
probably benign |
Het |
| Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
| Npy6r |
C |
T |
18: 44,409,686 (GRCm39) |
T369I |
probably benign |
Het |
| Or7a36 |
A |
G |
10: 78,820,143 (GRCm39) |
E173G |
probably benign |
Het |
| Ptprb |
A |
G |
10: 116,179,820 (GRCm39) |
T1413A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 138,017,304 (GRCm39) |
S624P |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,377,169 (GRCm39) |
V441A |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,315,860 (GRCm39) |
D2193E |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,017,397 (GRCm39) |
|
probably benign |
Het |
| Rnf167 |
T |
C |
11: 70,540,906 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
| Stt3a |
T |
C |
9: 36,646,762 (GRCm39) |
Y617C |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,936,966 (GRCm39) |
S1361C |
probably damaging |
Het |
| Tha1 |
A |
C |
11: 117,760,502 (GRCm39) |
S241A |
probably damaging |
Het |
| Tti1 |
G |
A |
2: 157,850,432 (GRCm39) |
A269V |
probably benign |
Het |
| Ugt2a1 |
A |
G |
5: 87,633,886 (GRCm39) |
|
probably null |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,761 (GRCm39) |
T730A |
possibly 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTGACCATAAAAGACTTTGTG -3'
(R):5'- AGGGTTTTCCTCACTCTGGGTC -3'
Sequencing Primer
(F):5'- TGAAAGTGATCAACATAAACCTGGTG -3'
(R):5'- GGTCCACCCAAGGGAAGAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation