Incidental Mutation 'R4555:Rdh19'
ID |
341842 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rdh19
|
Ensembl Gene |
ENSMUSG00000054052 |
Gene Name |
retinol dehydrogenase 19 |
Synonyms |
RDH-S, Rdhs |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R4555 (G1)
|
Quality Score |
216 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
127685797-127697045 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 127686020 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 44
(L44Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076735
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077530]
[ENSMUST00000125163]
|
AlphaFold |
G5E8H9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077530
AA Change: L44Q
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000076735 Gene: ENSMUSG00000054052 AA Change: L44Q
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125163
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
Afp |
T |
G |
5: 90,654,546 (GRCm39) |
I528S |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,812,755 (GRCm39) |
D2407G |
possibly damaging |
Het |
Cyp19a1 |
T |
C |
9: 54,074,105 (GRCm39) |
E483G |
probably damaging |
Het |
Dennd2c |
G |
A |
3: 103,039,202 (GRCm39) |
V117I |
probably benign |
Het |
Inha |
C |
T |
1: 75,486,227 (GRCm39) |
P174L |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,387,763 (GRCm39) |
R746G |
probably damaging |
Het |
Ndufaf7 |
T |
C |
17: 79,249,516 (GRCm39) |
S138P |
probably benign |
Het |
Osmr |
T |
C |
15: 6,845,201 (GRCm39) |
Q855R |
possibly damaging |
Het |
Pip4k2a |
C |
T |
2: 18,877,103 (GRCm39) |
D211N |
probably damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
Plxna1 |
G |
T |
6: 89,300,310 (GRCm39) |
T1591K |
probably damaging |
Het |
Rom1 |
T |
C |
19: 8,905,380 (GRCm39) |
T267A |
possibly damaging |
Het |
Smad3 |
C |
T |
9: 63,562,070 (GRCm39) |
V108I |
possibly damaging |
Het |
Sptb |
A |
C |
12: 76,659,625 (GRCm39) |
S1092A |
probably benign |
Het |
Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
Ugt1a6a |
C |
T |
1: 88,066,349 (GRCm39) |
R52* |
probably null |
Het |
Usp54 |
C |
T |
14: 20,611,090 (GRCm39) |
R1242H |
probably benign |
Het |
Vps16 |
T |
C |
2: 130,285,496 (GRCm39) |
V813A |
probably damaging |
Het |
|
Other mutations in Rdh19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01565:Rdh19
|
APN |
10 |
127,695,464 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCCGCATTTTGACACAGAG -3'
(R):5'- GTACCTCTGTTCCCAACACG -3'
Sequencing Primer
(F):5'- GAGTCTCTCTCTCTCTCTCTCTC -3'
(R):5'- GCTCCTTCACCCACTGAGTG -3'
|
Posted On |
2015-09-24 |