Incidental Mutation 'IGL01122:Rdh13'
| ID |
51600 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rdh13
|
| Ensembl Gene |
ENSMUSG00000008435 |
| Gene Name |
retinol dehydrogenase 13 (all-trans and 9-cis) |
| Synonyms |
8430425D21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
IGL01122
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
4427769-4448648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4445694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 60
(K60R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008579]
[ENSMUST00000119485]
[ENSMUST00000138798]
|
| AlphaFold |
Q8CEE7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008579
AA Change: K80R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000008579
Gene: ENSMUSG00000008435
AA Change: K80R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:KR
|
39 |
204 |
1.3e-7 |
PFAM |
|
Pfam:adh_short
|
39 |
245 |
1.4e-37 |
PFAM |
|
Pfam:Epimerase
|
41 |
231 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104772
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119485
AA Change: K80R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113433
Gene: ENSMUSG00000008435
AA Change: K80R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:adh_short
|
39 |
115 |
7.8e-10 |
PFAM |
|
low complexity region
|
117 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138798
AA Change: K60R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114390
Gene: ENSMUSG00000008435
AA Change: K60R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
19 |
112 |
2.7e-7 |
PFAM |
|
Pfam:adh_short
|
19 |
115 |
1.3e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154033
|
| 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 mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit disintegration of the outer-plus-inner-segment and outer nuclear layers, reduced amplitudes of a- and b-waves under scotopic conditions and swollen mitochondria in the inner segment following exposure to intense light. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap6 |
A |
T |
X: 168,029,666 (GRCm39) |
K142N |
possibly damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,251,555 (GRCm39) |
L540Q |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,341,422 (GRCm39) |
|
probably null |
Het |
| Cops6 |
A |
G |
5: 138,160,635 (GRCm39) |
K129E |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,018,522 (GRCm39) |
*1289Q |
probably null |
Het |
| Cyp11a1 |
T |
C |
9: 57,923,589 (GRCm39) |
I98T |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,060,621 (GRCm39) |
|
probably null |
Het |
| Dapl1 |
A |
T |
2: 59,324,839 (GRCm39) |
K30I |
probably damaging |
Het |
| Dlg2 |
A |
G |
7: 92,091,816 (GRCm39) |
M894V |
possibly damaging |
Het |
| Eme2 |
C |
T |
17: 25,112,320 (GRCm39) |
A202T |
possibly damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,215,739 (GRCm39) |
S170T |
probably damaging |
Het |
| Havcr2 |
A |
G |
11: 46,347,254 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ivd |
T |
A |
2: 118,707,361 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,778,900 (GRCm39) |
D471G |
possibly damaging |
Het |
| Med12 |
T |
C |
X: 100,325,149 (GRCm39) |
|
probably benign |
Het |
| Megf6 |
C |
T |
4: 154,338,264 (GRCm39) |
R445W |
probably damaging |
Het |
| Mptx1 |
A |
G |
1: 174,159,964 (GRCm39) |
Y90C |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,574,000 (GRCm39) |
V1083I |
possibly damaging |
Het |
| Nepn |
T |
A |
10: 52,267,911 (GRCm39) |
I59N |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,767 (GRCm39) |
I101T |
possibly damaging |
Het |
| Pbdc1 |
T |
C |
X: 104,126,297 (GRCm39) |
|
probably benign |
Het |
| Phlpp1 |
G |
T |
1: 106,101,166 (GRCm39) |
R478L |
possibly damaging |
Het |
| Ppp2r3c |
C |
T |
12: 55,344,587 (GRCm39) |
G127D |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,088,844 (GRCm39) |
L493P |
probably benign |
Het |
| Pramel24 |
A |
G |
4: 143,454,971 (GRCm39) |
D423G |
probably benign |
Het |
| Psap |
T |
C |
10: 60,135,253 (GRCm39) |
V303A |
probably benign |
Het |
| Scaf4 |
A |
G |
16: 90,045,518 (GRCm39) |
S528P |
unknown |
Het |
| Sfmbt1 |
A |
G |
14: 30,532,268 (GRCm39) |
I543V |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,386,679 (GRCm39) |
L1271P |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,528,960 (GRCm39) |
T1739K |
possibly damaging |
Het |
| Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
| Tmprss11b |
G |
T |
5: 86,811,376 (GRCm39) |
T186K |
probably benign |
Het |
| U2surp |
G |
T |
9: 95,372,287 (GRCm39) |
Q291K |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 120,997,358 (GRCm39) |
I738T |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,601,346 (GRCm39) |
S142T |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,821,988 (GRCm39) |
I222N |
probably benign |
Het |
| Zmym4 |
T |
C |
4: 126,758,045 (GRCm39) |
N1503S |
probably damaging |
Het |
|
| Other mutations in Rdh13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Rdh13
|
APN |
7 |
4,430,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01778:Rdh13
|
APN |
7 |
4,433,388 (GRCm39) |
splice site |
probably null |
|
|
IGL02269:Rdh13
|
APN |
7 |
4,448,497 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02749:Rdh13
|
APN |
7 |
4,430,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02820:Rdh13
|
APN |
7 |
4,438,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0524:Rdh13
|
UTSW |
7 |
4,447,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1698:Rdh13
|
UTSW |
7 |
4,430,790 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2111:Rdh13
|
UTSW |
7 |
4,448,482 (GRCm39) |
missense |
probably benign |
|
|
R2177:Rdh13
|
UTSW |
7 |
4,430,666 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4811:Rdh13
|
UTSW |
7 |
4,445,652 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7359:Rdh13
|
UTSW |
7 |
4,430,696 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8887:Rdh13
|
UTSW |
7 |
4,434,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation