Incidental Mutation 'IGL03211:Rdh7'
| ID |
413296 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rdh7
|
| Ensembl Gene |
ENSMUSG00000040134 |
| Gene Name |
retinol dehydrogenase 7 |
| Synonyms |
CRAD2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL03211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127719897-127724686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127723492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 121
(N121S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047199]
|
| AlphaFold |
O88451 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047199
AA Change: N121S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000039252
Gene: ENSMUSG00000040134
AA Change: N121S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:adh_short
|
30 |
220 |
1.2e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130374
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp7 |
C |
T |
2: 172,714,676 (GRCm39) |
V378I |
possibly damaging |
Het |
| Cd209b |
G |
T |
8: 3,968,830 (GRCm39) |
|
probably benign |
Het |
| Cilp |
A |
T |
9: 65,187,457 (GRCm39) |
Q1184L |
probably benign |
Het |
| Cysltr2 |
A |
T |
14: 73,267,155 (GRCm39) |
M185K |
possibly damaging |
Het |
| Dcaf6 |
A |
G |
1: 165,250,502 (GRCm39) |
F121L |
possibly damaging |
Het |
| Dnajc8 |
T |
A |
4: 132,272,048 (GRCm39) |
Y95N |
possibly damaging |
Het |
| Ebf3 |
A |
G |
7: 136,833,033 (GRCm39) |
V214A |
probably benign |
Het |
| Elavl3 |
A |
G |
9: 21,929,974 (GRCm39) |
V310A |
probably damaging |
Het |
| Emc2 |
C |
T |
15: 43,371,068 (GRCm39) |
R131* |
probably null |
Het |
| Hcn4 |
G |
A |
9: 58,765,434 (GRCm39) |
V639M |
unknown |
Het |
| Kif21a |
T |
G |
15: 90,882,166 (GRCm39) |
D46A |
possibly damaging |
Het |
| Kitl |
T |
C |
10: 99,916,721 (GRCm39) |
S175P |
probably benign |
Het |
| Klhl32 |
C |
T |
4: 24,792,616 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
C |
T |
2: 160,601,611 (GRCm39) |
T972I |
possibly damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,492 (GRCm39) |
H666R |
probably damaging |
Het |
| Rap1gap |
G |
A |
4: 137,443,157 (GRCm39) |
|
probably null |
Het |
| Ric8b |
T |
A |
10: 84,837,657 (GRCm39) |
I488N |
probably damaging |
Het |
| Slc38a2 |
A |
T |
15: 96,596,153 (GRCm39) |
|
probably null |
Het |
| Slc9a9 |
G |
A |
9: 95,020,043 (GRCm39) |
|
probably benign |
Het |
| Tk2 |
T |
A |
8: 104,970,073 (GRCm39) |
I64F |
probably damaging |
Het |
| Virma |
G |
A |
4: 11,548,770 (GRCm39) |
W1776* |
probably null |
Het |
| Vrk1 |
C |
T |
12: 106,002,847 (GRCm39) |
A15V |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 101,992,778 (GRCm39) |
|
probably benign |
Het |
| Wfdc10 |
T |
C |
2: 164,499,172 (GRCm39) |
V94A |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,600 (GRCm39) |
C652S |
possibly damaging |
Het |
|
| Other mutations in Rdh7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02098:Rdh7
|
APN |
10 |
127,720,607 (GRCm39) |
missense |
probably benign |
|
|
IGL02727:Rdh7
|
APN |
10 |
127,723,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0315:Rdh7
|
UTSW |
10 |
127,724,265 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0394:Rdh7
|
UTSW |
10 |
127,720,539 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0669:Rdh7
|
UTSW |
10 |
127,720,598 (GRCm39) |
missense |
probably benign |
|
|
R1662:Rdh7
|
UTSW |
10 |
127,724,481 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1735:Rdh7
|
UTSW |
10 |
127,720,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1778:Rdh7
|
UTSW |
10 |
127,720,590 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2191:Rdh7
|
UTSW |
10 |
127,724,467 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2268:Rdh7
|
UTSW |
10 |
127,720,530 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4240:Rdh7
|
UTSW |
10 |
127,721,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4817:Rdh7
|
UTSW |
10 |
127,721,631 (GRCm39) |
missense |
probably benign |
|
|
R4887:Rdh7
|
UTSW |
10 |
127,721,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4970:Rdh7
|
UTSW |
10 |
127,721,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6463:Rdh7
|
UTSW |
10 |
127,721,650 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6615:Rdh7
|
UTSW |
10 |
127,720,491 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6835:Rdh7
|
UTSW |
10 |
127,720,608 (GRCm39) |
missense |
probably benign |
|
|
R6854:Rdh7
|
UTSW |
10 |
127,724,250 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7172:Rdh7
|
UTSW |
10 |
127,724,218 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8129:Rdh7
|
UTSW |
10 |
127,723,370 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8186:Rdh7
|
UTSW |
10 |
127,723,284 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8430:Rdh7
|
UTSW |
10 |
127,723,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8888:Rdh7
|
UTSW |
10 |
127,724,430 (GRCm39) |
missense |
probably benign |
|
|
R8895:Rdh7
|
UTSW |
10 |
127,724,430 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation