Incidental Mutation 'R0036:Sdr16c6'
| ID |
15680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdr16c6
|
| Ensembl Gene |
ENSMUSG00000071019 |
| Gene Name |
short chain dehydrogenase/reductase family 16C, member 6 |
| Synonyms |
4833413O15Rik |
| MMRRC Submission |
038330-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R0036 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
4055926-4077514 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 4063335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095151]
[ENSMUST00000108383]
|
| AlphaFold |
Q05A13 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095151
|
| SMART Domains |
Protein: ENSMUSP00000092773
Gene: ENSMUSG00000071019
| 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 benign
Transcript: ENSMUST00000108383
|
| SMART Domains |
Protein: ENSMUSP00000104020
Gene: ENSMUSG00000071019
| 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 |
- 1x: 79.1%
- 3x: 69.3%
- 10x: 43.3%
- 20x: 23.5%
|
| Validation Efficiency |
91% (49/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap44 |
A |
G |
16: 44,259,432 (GRCm39) |
E1098G |
possibly damaging |
Het |
| Cfap95 |
A |
T |
19: 23,593,932 (GRCm39) |
|
probably benign |
Het |
| Ctsq |
C |
T |
13: 61,185,485 (GRCm39) |
|
probably null |
Het |
| Dock9 |
C |
T |
14: 121,860,265 (GRCm39) |
V886M |
probably damaging |
Het |
| Eaf2 |
T |
C |
16: 36,621,020 (GRCm39) |
Y224C |
probably benign |
Het |
| Eif5b |
T |
A |
1: 38,058,192 (GRCm39) |
S165T |
probably benign |
Het |
| Eln |
A |
G |
5: 134,739,914 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,291,648 (GRCm39) |
K514R |
probably null |
Het |
| Myo1e |
T |
A |
9: 70,248,590 (GRCm39) |
W435R |
probably damaging |
Het |
| Nadsyn1 |
T |
C |
7: 143,365,028 (GRCm39) |
I226V |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,184,194 (GRCm39) |
|
probably benign |
Het |
| Phrf1 |
T |
C |
7: 140,841,693 (GRCm39) |
M1435T |
probably damaging |
Het |
| Ppic |
A |
T |
18: 53,542,264 (GRCm39) |
I148N |
probably damaging |
Het |
| Sgo2a |
T |
C |
1: 58,054,787 (GRCm39) |
S324P |
probably benign |
Het |
| Slf1 |
G |
T |
13: 77,249,070 (GRCm39) |
Q373K |
probably benign |
Het |
| Tfg |
G |
T |
16: 56,511,358 (GRCm39) |
Q324K |
probably benign |
Het |
| Wdr64 |
G |
T |
1: 175,556,496 (GRCm39) |
G248* |
probably null |
Het |
|
| Other mutations in Sdr16c6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01463:Sdr16c6
|
APN |
4 |
4,063,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Sdr16c6
|
APN |
4 |
4,076,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2012-12-21 |
Incidental Mutation