Incidental Mutation 'IGL00731:Rdh10'
ID |
13791 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rdh10
|
Ensembl Gene |
ENSMUSG00000025921 |
Gene Name |
retinol dehydrogenase 10 (all-trans) |
Synonyms |
3110069K09Rik, m366Asp, 4921506A21Rik, D1Ertd762e |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.888)
|
Stock # |
IGL00731
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
16176106-16202774 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 16178099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 124
(N124D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027053
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027053]
[ENSMUST00000058437]
|
AlphaFold |
Q8VCH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027053
AA Change: N124D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027053 Gene: ENSMUSG00000025921 AA Change: N124D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
Pfam:KR
|
37 |
231 |
3.1e-8 |
PFAM |
Pfam:adh_short
|
90 |
259 |
1.8e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058437
|
SMART Domains |
Protein: ENSMUSP00000071616 Gene: ENSMUSG00000043716
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L30_N
|
39 |
109 |
4.5e-31 |
PFAM |
Pfam:Ribosomal_L30
|
112 |
162 |
1.3e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125005
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141217
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149566
|
SMART Domains |
Protein: ENSMUSP00000118695 Gene: ENSMUSG00000043716
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
36 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L30_N
|
65 |
135 |
2.1e-31 |
PFAM |
Pfam:Ribosomal_L30
|
138 |
188 |
3e-29 |
PFAM |
|
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 retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011] PHENOTYPE: Embryos homozygous for null or hypomorphic alleles exhibit mid-gestational lethality, reduced Retinoic Acid signaling and abnormal limb, craniofacial, somite and cardiac morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
A |
G |
8: 111,771,501 (GRCm39) |
|
probably benign |
Het |
Adcy10 |
T |
C |
1: 165,400,183 (GRCm39) |
F1531L |
probably benign |
Het |
Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
Dab2 |
T |
C |
15: 6,465,191 (GRCm39) |
S463P |
possibly damaging |
Het |
Ehf |
C |
T |
2: 103,097,185 (GRCm39) |
|
probably null |
Het |
Fnbp4 |
G |
T |
2: 90,598,987 (GRCm39) |
V704L |
probably benign |
Het |
Gbp7 |
T |
C |
3: 142,252,189 (GRCm39) |
S591P |
probably benign |
Het |
Gpr155 |
A |
G |
2: 73,192,957 (GRCm39) |
L498P |
probably damaging |
Het |
Igll1 |
T |
C |
16: 16,678,783 (GRCm39) |
T176A |
probably benign |
Het |
Klk1b21 |
A |
G |
7: 43,755,347 (GRCm39) |
E182G |
possibly damaging |
Het |
Npat |
G |
A |
9: 53,473,386 (GRCm39) |
E393K |
probably damaging |
Het |
Npnt |
C |
T |
3: 132,610,418 (GRCm39) |
|
probably null |
Het |
Pde2a |
A |
G |
7: 101,157,306 (GRCm39) |
Y693C |
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,749,237 (GRCm39) |
S1269P |
possibly damaging |
Het |
Rasal2 |
A |
C |
1: 156,985,334 (GRCm39) |
D804E |
probably benign |
Het |
Slit3 |
G |
T |
11: 35,512,981 (GRCm39) |
D536Y |
probably damaging |
Het |
Snx24 |
C |
T |
18: 53,517,681 (GRCm39) |
|
probably benign |
Het |
Spink12 |
G |
A |
18: 44,241,177 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Rdh10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01646:Rdh10
|
APN |
1 |
16,178,246 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01820:Rdh10
|
APN |
1 |
16,198,483 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02377:Rdh10
|
APN |
1 |
16,176,438 (GRCm39) |
nonsense |
probably null |
|
IGL03212:Rdh10
|
APN |
1 |
16,178,051 (GRCm39) |
missense |
probably benign |
0.03 |
R0039:Rdh10
|
UTSW |
1 |
16,199,508 (GRCm39) |
missense |
probably damaging |
0.97 |
R0042:Rdh10
|
UTSW |
1 |
16,178,260 (GRCm39) |
unclassified |
probably benign |
|
R0042:Rdh10
|
UTSW |
1 |
16,178,260 (GRCm39) |
unclassified |
probably benign |
|
R0109:Rdh10
|
UTSW |
1 |
16,176,489 (GRCm39) |
missense |
probably damaging |
0.97 |
R0569:Rdh10
|
UTSW |
1 |
16,199,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R1272:Rdh10
|
UTSW |
1 |
16,178,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R1633:Rdh10
|
UTSW |
1 |
16,198,420 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2896:Rdh10
|
UTSW |
1 |
16,176,329 (GRCm39) |
splice site |
probably null |
|
R4623:Rdh10
|
UTSW |
1 |
16,201,287 (GRCm39) |
splice site |
probably benign |
|
R5095:Rdh10
|
UTSW |
1 |
16,201,609 (GRCm39) |
missense |
probably benign |
0.01 |
R5158:Rdh10
|
UTSW |
1 |
16,178,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R5535:Rdh10
|
UTSW |
1 |
16,201,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R6433:Rdh10
|
UTSW |
1 |
16,178,079 (GRCm39) |
missense |
probably damaging |
0.98 |
R6778:Rdh10
|
UTSW |
1 |
16,176,408 (GRCm39) |
missense |
probably damaging |
0.99 |
R6922:Rdh10
|
UTSW |
1 |
16,176,255 (GRCm39) |
missense |
probably benign |
|
R9145:Rdh10
|
UTSW |
1 |
16,199,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |