Incidental Mutation 'R0042:Rdh10'
| ID |
15778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rdh10
|
| Ensembl Gene |
ENSMUSG00000025921 |
| Gene Name |
retinol dehydrogenase 10 (all-trans) |
| Synonyms |
3110069K09Rik, m366Asp, 4921506A21Rik, D1Ertd762e |
| MMRRC Submission |
038336-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R0042 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
16176106-16202774 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 16178260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027053]
[ENSMUST00000058437]
|
| AlphaFold |
Q8VCH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027053
|
| SMART Domains |
Protein: ENSMUSP00000027053
Gene: ENSMUSG00000025921
| 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 |
- 1x: 81.9%
- 3x: 73.7%
- 10x: 53.7%
- 20x: 34.5%
|
| Validation Efficiency |
94% (58/62) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,059,245 (GRCm39) |
|
probably benign |
Het |
| Adgrf3 |
A |
G |
5: 30,402,426 (GRCm39) |
L534P |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,730,280 (GRCm39) |
D3568G |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,809,409 (GRCm39) |
|
probably benign |
Het |
| Ccnb2 |
A |
G |
9: 70,326,335 (GRCm39) |
V34A |
probably benign |
Het |
| Dmxl1 |
C |
A |
18: 49,997,102 (GRCm39) |
T466K |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,254,713 (GRCm39) |
D373G |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,087,490 (GRCm39) |
V290A |
probably damaging |
Het |
| Gpr179 |
C |
T |
11: 97,225,757 (GRCm39) |
V2133I |
probably benign |
Het |
| Grb10 |
G |
T |
11: 11,886,798 (GRCm39) |
H435Q |
probably damaging |
Het |
| Gzmm |
T |
C |
10: 79,530,399 (GRCm39) |
I190T |
probably benign |
Het |
| H2-Q3 |
A |
G |
17: 35,578,823 (GRCm39) |
|
noncoding transcript |
Het |
| Hspb7 |
A |
G |
4: 141,151,245 (GRCm39) |
E129G |
probably damaging |
Het |
| Il17ra |
T |
C |
6: 120,449,086 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
A |
G |
11: 104,557,966 (GRCm39) |
T787A |
possibly damaging |
Het |
| Krt4 |
T |
G |
15: 101,831,187 (GRCm39) |
|
probably benign |
Het |
| Lgsn |
C |
T |
1: 31,229,534 (GRCm39) |
T85I |
probably benign |
Het |
| Metap1 |
C |
T |
3: 138,177,918 (GRCm39) |
V217I |
probably benign |
Het |
| Mib2 |
A |
T |
4: 155,743,897 (GRCm39) |
C48* |
probably null |
Het |
| Mroh4 |
T |
A |
15: 74,482,154 (GRCm39) |
I768F |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 54,095,624 (GRCm39) |
D361E |
probably damaging |
Het |
| P4hb |
G |
A |
11: 120,459,092 (GRCm39) |
R134C |
probably damaging |
Het |
| Prr35 |
C |
A |
17: 26,166,956 (GRCm39) |
E194* |
probably null |
Het |
| Rbl1 |
A |
G |
2: 157,017,624 (GRCm39) |
|
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,070,377 (GRCm39) |
I842L |
probably benign |
Het |
| Stk32b |
A |
C |
5: 37,874,092 (GRCm39) |
D13E |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,123,192 (GRCm39) |
D708G |
possibly damaging |
Het |
| Taar6 |
T |
C |
10: 23,861,021 (GRCm39) |
D175G |
probably benign |
Het |
| Tmod4 |
T |
C |
3: 95,037,099 (GRCm39) |
D164G |
possibly damaging |
Het |
| Ttc23l |
A |
C |
15: 10,551,627 (GRCm39) |
L33W |
probably damaging |
Het |
| Ttc39d |
T |
C |
17: 80,523,379 (GRCm39) |
Y13H |
probably benign |
Het |
| Utp18 |
G |
T |
11: 93,766,684 (GRCm39) |
T309K |
probably damaging |
Het |
| Vps11 |
G |
T |
9: 44,267,588 (GRCm39) |
Y341* |
probably null |
Het |
| Vsig8 |
T |
C |
1: 172,387,925 (GRCm39) |
V5A |
possibly damaging |
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 |
|
|
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 |
|
|
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 |
2012-12-21 |
Incidental Mutation