Incidental Mutation 'IGL01565:Rdh19'
| ID |
90947 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rdh19
|
| Ensembl Gene |
ENSMUSG00000054052 |
| Gene Name |
retinol dehydrogenase 19 |
| Synonyms |
RDH-S, Rdhs |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL01565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127685797-127697045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 127695464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 226
(M226R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077530]
|
| AlphaFold |
G5E8H9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077530
AA Change: M226R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000076735
Gene: ENSMUSG00000054052
AA Change: M226R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:adh_short
|
30 |
223 |
1.8e-43 |
PFAM |
|
Pfam:DUF1776
|
43 |
304 |
1.1e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,439,222 (GRCm39) |
T36A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,592,101 (GRCm39) |
M796V |
probably damaging |
Het |
| Brpf1 |
A |
T |
6: 113,293,611 (GRCm39) |
Q560L |
probably damaging |
Het |
| Dbil5 |
T |
G |
11: 76,109,091 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,924,655 (GRCm39) |
K2200E |
possibly damaging |
Het |
| Gtf2i |
T |
C |
5: 134,284,767 (GRCm39) |
I471V |
probably damaging |
Het |
| Has3 |
T |
A |
8: 107,601,077 (GRCm39) |
W180R |
probably benign |
Het |
| Lrfn1 |
T |
C |
7: 28,158,194 (GRCm39) |
C38R |
probably damaging |
Het |
| Lrsam1 |
C |
T |
2: 32,826,507 (GRCm39) |
A455T |
probably damaging |
Het |
| Mettl2 |
C |
A |
11: 105,017,364 (GRCm39) |
D14E |
probably benign |
Het |
| Mocs1 |
G |
A |
17: 49,759,348 (GRCm39) |
R364Q |
probably benign |
Het |
| Ndst2 |
A |
T |
14: 20,778,274 (GRCm39) |
V435E |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,306 (GRCm39) |
|
probably benign |
Het |
| Pigr |
A |
C |
1: 130,772,211 (GRCm39) |
D143A |
possibly damaging |
Het |
| Polq |
A |
C |
16: 36,833,475 (GRCm39) |
N56T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,977,041 (GRCm39) |
D584E |
probably damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,114,553 (GRCm39) |
Q511H |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,596,077 (GRCm39) |
|
probably benign |
Het |
| Rock2 |
G |
A |
12: 17,003,318 (GRCm39) |
D386N |
possibly damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,352,275 (GRCm39) |
T96A |
possibly damaging |
Het |
| Spata2 |
A |
G |
2: 167,326,214 (GRCm39) |
S202P |
probably damaging |
Het |
| Swsap1 |
T |
A |
9: 21,868,524 (GRCm39) |
D265E |
possibly damaging |
Het |
| Tdrd3 |
A |
T |
14: 87,709,668 (GRCm39) |
I117L |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,344,296 (GRCm39) |
D1387G |
probably benign |
Het |
| Tnfaip6 |
A |
G |
2: 51,945,846 (GRCm39) |
S231G |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,396,355 (GRCm39) |
D434E |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,433,240 (GRCm39) |
Y105C |
probably damaging |
Het |
| Usp50 |
G |
T |
2: 126,619,888 (GRCm39) |
C141* |
probably null |
Het |
| Zfp647 |
A |
T |
15: 76,795,870 (GRCm39) |
C263* |
probably null |
Het |
|
| Other mutations in Rdh19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0011:Rdh19
|
UTSW |
10 |
127,692,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0011:Rdh19
|
UTSW |
10 |
127,692,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3841:Rdh19
|
UTSW |
10 |
127,692,755 (GRCm39) |
missense |
probably benign |
|
|
R3978:Rdh19
|
UTSW |
10 |
127,685,944 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3979:Rdh19
|
UTSW |
10 |
127,685,944 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3981:Rdh19
|
UTSW |
10 |
127,686,017 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3983:Rdh19
|
UTSW |
10 |
127,686,017 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4555:Rdh19
|
UTSW |
10 |
127,686,020 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4871:Rdh19
|
UTSW |
10 |
127,696,013 (GRCm39) |
missense |
probably benign |
|
|
R4915:Rdh19
|
UTSW |
10 |
127,686,113 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5712:Rdh19
|
UTSW |
10 |
127,692,756 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5990:Rdh19
|
UTSW |
10 |
127,695,463 (GRCm39) |
missense |
probably benign |
|
|
R7328:Rdh19
|
UTSW |
10 |
127,692,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7806:Rdh19
|
UTSW |
10 |
127,692,740 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7886:Rdh19
|
UTSW |
10 |
127,686,169 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8496:Rdh19
|
UTSW |
10 |
127,695,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8935:Rdh19
|
UTSW |
10 |
127,685,929 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9090:Rdh19
|
UTSW |
10 |
127,696,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9140:Rdh19
|
UTSW |
10 |
127,692,830 (GRCm39) |
missense |
|
|
|
R9271:Rdh19
|
UTSW |
10 |
127,696,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9344:Rdh19
|
UTSW |
10 |
127,692,740 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9473:Rdh19
|
UTSW |
10 |
127,696,177 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-12-09 |
Incidental Mutation