Incidental Mutation 'IGL03212:Rdh10'
ID |
413332 |
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 # |
IGL03212
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
16176106-16202774 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 16178051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 108
(C108G)
|
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: C108G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000027053 Gene: ENSMUSG00000025921 AA Change: C108G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151017
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Als2 |
A |
G |
1: 59,242,085 (GRCm39) |
S657P |
probably benign |
Het |
Atp2c1 |
T |
A |
9: 105,322,466 (GRCm39) |
N221I |
probably damaging |
Het |
Atp5pd |
G |
T |
11: 115,306,597 (GRCm39) |
H155N |
probably damaging |
Het |
Cd55b |
A |
T |
1: 130,339,179 (GRCm39) |
N316K |
probably benign |
Het |
Celsr1 |
A |
T |
15: 85,814,878 (GRCm39) |
M1861K |
probably benign |
Het |
Cfap69 |
T |
G |
5: 5,707,849 (GRCm39) |
|
probably null |
Het |
Col7a1 |
C |
A |
9: 108,803,520 (GRCm39) |
P2169Q |
unknown |
Het |
Cyp2j5 |
G |
T |
4: 96,552,055 (GRCm39) |
H65N |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,290,309 (GRCm39) |
V1233A |
probably benign |
Het |
Fn1 |
A |
T |
1: 71,680,484 (GRCm39) |
L407* |
probably null |
Het |
Fpr-rs3 |
T |
C |
17: 20,844,121 (GRCm39) |
D340G |
probably benign |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Glmp |
T |
C |
3: 88,235,664 (GRCm39) |
S317P |
probably benign |
Het |
Gm5581 |
A |
T |
6: 131,158,413 (GRCm39) |
|
noncoding transcript |
Het |
Gm5624 |
A |
T |
14: 44,798,167 (GRCm39) |
N103K |
probably benign |
Het |
Gprin3 |
A |
G |
6: 59,332,013 (GRCm39) |
F98S |
probably benign |
Het |
Ighmbp2 |
A |
G |
19: 3,329,942 (GRCm39) |
V104A |
probably damaging |
Het |
Igkv4-79 |
A |
C |
6: 69,020,214 (GRCm39) |
S34A |
probably benign |
Het |
Igsf10 |
G |
A |
3: 59,235,586 (GRCm39) |
P1532S |
probably benign |
Het |
Myt1l |
A |
G |
12: 29,877,819 (GRCm39) |
K490R |
unknown |
Het |
Or5d46 |
T |
A |
2: 88,170,016 (GRCm39) |
Y36N |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,826,132 (GRCm39) |
Q287L |
probably benign |
Het |
Plxna1 |
T |
A |
6: 89,308,885 (GRCm39) |
T1198S |
probably damaging |
Het |
Pramel6 |
A |
G |
2: 87,340,769 (GRCm39) |
D367G |
probably damaging |
Het |
Rbm28 |
G |
T |
6: 29,131,274 (GRCm39) |
R10S |
probably damaging |
Het |
Rfx7 |
C |
A |
9: 72,526,443 (GRCm39) |
T1211K |
probably benign |
Het |
Slc24a5 |
C |
A |
2: 124,922,750 (GRCm39) |
T141N |
probably damaging |
Het |
Smarca5 |
T |
A |
8: 81,438,410 (GRCm39) |
N642I |
possibly damaging |
Het |
Smchd1 |
C |
A |
17: 71,750,886 (GRCm39) |
R344L |
probably damaging |
Het |
Tmx3 |
T |
A |
18: 90,556,642 (GRCm39) |
I355N |
probably damaging |
Het |
Tram1l1 |
G |
A |
3: 124,115,563 (GRCm39) |
G241D |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,137,074 (GRCm39) |
T982A |
probably benign |
Het |
Vmn2r52 |
T |
G |
7: 9,893,474 (GRCm39) |
H555P |
possibly damaging |
Het |
Zbtb43 |
A |
T |
2: 33,344,286 (GRCm39) |
M313K |
probably benign |
Het |
Zfp942 |
A |
T |
17: 22,148,445 (GRCm39) |
Y61* |
probably null |
Het |
|
Other mutations in Rdh10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00731:Rdh10
|
APN |
1 |
16,178,099 (GRCm39) |
missense |
probably benign |
|
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 |
|
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 |
2016-08-02 |