Incidental Mutation 'IGL02230:Sdr16c5'
| ID |
285650 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sdr16c5
|
| Ensembl Gene |
ENSMUSG00000028236 |
| Gene Name |
short chain dehydrogenase/reductase family 16C, member 5 |
| Synonyms |
Rdhe2, Scdr9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL02230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
3995942-4019663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4016354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 24
(E24G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040925]
|
| AlphaFold |
Q7TQA3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040925
AA Change: E24G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046298
Gene: ENSMUSG00000028236
AA Change: E24G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
41 |
233 |
1.8e-17 |
PFAM |
|
Pfam:adh_short
|
41 |
238 |
1.7e-48 |
PFAM |
|
Pfam:adh_short_C2
|
47 |
228 |
1.3e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126274
|
| 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 member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,218,604 (GRCm39) |
T727S |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,291,193 (GRCm39) |
I374F |
probably damaging |
Het |
| Ecel1 |
T |
C |
1: 87,079,916 (GRCm39) |
N399S |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,190 (GRCm39) |
E317G |
probably damaging |
Het |
| Gm10030 |
T |
A |
9: 110,835,458 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4884 |
A |
T |
7: 40,692,829 (GRCm39) |
Q266L |
probably damaging |
Het |
| Gpr45 |
C |
A |
1: 43,071,816 (GRCm39) |
A153E |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,903,682 (GRCm39) |
F991L |
probably benign |
Het |
| Hif1a |
T |
G |
12: 73,979,224 (GRCm39) |
D249E |
probably damaging |
Het |
| Hsd17b12 |
A |
G |
2: 93,875,743 (GRCm39) |
L194P |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,245,956 (GRCm39) |
S947P |
probably damaging |
Het |
| Kng1 |
G |
T |
16: 22,879,244 (GRCm39) |
|
probably null |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Lrrc4 |
T |
A |
6: 28,830,879 (GRCm39) |
K245N |
probably damaging |
Het |
| Mdga2 |
G |
A |
12: 66,702,197 (GRCm39) |
R335* |
probably null |
Het |
| Naa16 |
A |
T |
14: 79,614,801 (GRCm39) |
|
probably benign |
Het |
| Ncbp1 |
C |
A |
4: 46,165,272 (GRCm39) |
N528K |
probably benign |
Het |
| Or10a2 |
A |
G |
7: 106,673,700 (GRCm39) |
I222V |
probably damaging |
Het |
| Or7a41 |
T |
A |
10: 78,870,876 (GRCm39) |
M82K |
probably damaging |
Het |
| Pipox |
A |
G |
11: 77,772,032 (GRCm39) |
L364P |
probably damaging |
Het |
| R3hdm4 |
C |
A |
10: 79,747,925 (GRCm39) |
A206S |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,136,145 (GRCm39) |
I589T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,599,861 (GRCm39) |
I815V |
possibly damaging |
Het |
| Serpina16 |
A |
G |
12: 103,641,561 (GRCm39) |
Y55H |
probably damaging |
Het |
| Sirt2 |
C |
T |
7: 28,478,371 (GRCm39) |
R83C |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,752,195 (GRCm39) |
|
probably null |
Het |
| Stmn1 |
A |
G |
4: 134,200,224 (GRCm39) |
E99G |
probably damaging |
Het |
| Tas2r103 |
T |
C |
6: 133,014,019 (GRCm39) |
I16V |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,927,056 (GRCm39) |
K334E |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,417,233 (GRCm39) |
I876T |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,807,591 (GRCm39) |
V289D |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Sdr16c5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00547:Sdr16c5
|
APN |
4 |
4,012,320 (GRCm39) |
splice site |
probably benign |
|
|
IGL03090:Sdr16c5
|
APN |
4 |
4,006,575 (GRCm39) |
splice site |
probably benign |
|
|
PIT4802001:Sdr16c5
|
UTSW |
4 |
4,012,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:Sdr16c5
|
UTSW |
4 |
4,005,546 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0610:Sdr16c5
|
UTSW |
4 |
4,016,116 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2012:Sdr16c5
|
UTSW |
4 |
3,996,244 (GRCm39) |
missense |
probably benign |
|
|
R3735:Sdr16c5
|
UTSW |
4 |
4,005,614 (GRCm39) |
missense |
probably benign |
|
|
R3839:Sdr16c5
|
UTSW |
4 |
4,006,601 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3896:Sdr16c5
|
UTSW |
4 |
4,006,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:Sdr16c5
|
UTSW |
4 |
4,016,216 (GRCm39) |
nonsense |
probably null |
|
|
R5024:Sdr16c5
|
UTSW |
4 |
4,010,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5194:Sdr16c5
|
UTSW |
4 |
4,006,663 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5395:Sdr16c5
|
UTSW |
4 |
4,016,277 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6267:Sdr16c5
|
UTSW |
4 |
4,016,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6352:Sdr16c5
|
UTSW |
4 |
4,016,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7076:Sdr16c5
|
UTSW |
4 |
4,006,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9147:Sdr16c5
|
UTSW |
4 |
3,996,200 (GRCm39) |
missense |
probably benign |
|
|
R9336:Sdr16c5
|
UTSW |
4 |
4,016,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9722:Sdr16c5
|
UTSW |
4 |
4,005,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation