Incidental Mutation 'IGL01463:Sdr16c6'
| ID |
88044 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sdr16c6
|
| Ensembl Gene |
ENSMUSG00000071019 |
| Gene Name |
short chain dehydrogenase/reductase family 16C, member 6 |
| Synonyms |
4833413O15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL01463
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
4055926-4077514 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4063238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 179
(G179D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095151]
[ENSMUST00000108383]
|
| AlphaFold |
Q05A13 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095151
AA Change: G179D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092773
Gene: ENSMUSG00000071019
AA Change: G179D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
37 |
200 |
1.1e-14 |
PFAM |
|
Pfam:adh_short
|
37 |
235 |
1.4e-46 |
PFAM |
|
Pfam:adh_short_C2
|
43 |
211 |
1.7e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108383
AA Change: G179D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104020
Gene: ENSMUSG00000071019
AA Change: G179D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
37 |
205 |
2e-32 |
PFAM |
|
Pfam:KR
|
38 |
200 |
4.4e-15 |
PFAM |
|
Pfam:adh_short_C2
|
43 |
214 |
4.1e-14 |
PFAM |
|
low complexity region
|
235 |
241 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,142,790 (GRCm39) |
D773G |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,429,818 (GRCm39) |
T274A |
probably benign |
Het |
| Cyp2c50 |
G |
T |
19: 40,079,422 (GRCm39) |
C172F |
probably damaging |
Het |
| Fam83h |
G |
T |
15: 75,875,637 (GRCm39) |
R567S |
possibly damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,520,405 (GRCm39) |
|
probably null |
Het |
| Gmds |
A |
T |
13: 32,418,341 (GRCm39) |
Y48N |
probably damaging |
Het |
| Mov10 |
C |
T |
3: 104,707,640 (GRCm39) |
R578H |
probably damaging |
Het |
| Pcna |
A |
T |
2: 132,093,349 (GRCm39) |
Y133N |
probably damaging |
Het |
| Rhag |
T |
C |
17: 41,139,646 (GRCm39) |
I126T |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 74,786,203 (GRCm39) |
G406S |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,150 (GRCm39) |
N269K |
probably damaging |
Het |
|
| Other mutations in Sdr16c6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02801:Sdr16c6
|
APN |
4 |
4,076,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0036:Sdr16c6
|
UTSW |
4 |
4,063,335 (GRCm39) |
splice site |
probably benign |
|
|
R1054:Sdr16c6
|
UTSW |
4 |
4,069,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1778:Sdr16c6
|
UTSW |
4 |
4,058,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1928:Sdr16c6
|
UTSW |
4 |
4,069,926 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1930:Sdr16c6
|
UTSW |
4 |
4,058,809 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2385:Sdr16c6
|
UTSW |
4 |
4,062,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4865:Sdr16c6
|
UTSW |
4 |
4,058,834 (GRCm39) |
missense |
probably benign |
|
|
R5342:Sdr16c6
|
UTSW |
4 |
4,069,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5637:Sdr16c6
|
UTSW |
4 |
4,063,232 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5841:Sdr16c6
|
UTSW |
4 |
4,062,728 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6233:Sdr16c6
|
UTSW |
4 |
4,069,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6977:Sdr16c6
|
UTSW |
4 |
4,076,865 (GRCm39) |
missense |
probably benign |
|
|
R7423:Sdr16c6
|
UTSW |
4 |
4,076,921 (GRCm39) |
splice site |
probably benign |
|
|
R7460:Sdr16c6
|
UTSW |
4 |
4,076,575 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7623:Sdr16c6
|
UTSW |
4 |
4,058,801 (GRCm39) |
missense |
not run |
|
|
R8220:Sdr16c6
|
UTSW |
4 |
4,076,872 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8338:Sdr16c6
|
UTSW |
4 |
4,076,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9769:Sdr16c6
|
UTSW |
4 |
4,076,893 (GRCm39) |
missense |
probably benign |
0.26 |
|
Z1176:Sdr16c6
|
UTSW |
4 |
4,063,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation