Incidental Mutation 'R1272:Rdh10'
| ID |
151332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rdh10
|
| Ensembl Gene |
ENSMUSG00000025921 |
| Gene Name |
retinol dehydrogenase 10 (all-trans) |
| Synonyms |
3110069K09Rik, m366Asp, 4921506A21Rik, D1Ertd762e |
| MMRRC Submission |
039338-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R1272 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
16176106-16202774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 16178240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 171
(H171N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027053]
[ENSMUST00000058437]
|
| AlphaFold |
Q8VCH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027053
AA Change: H171N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027053
Gene: ENSMUSG00000025921
AA Change: H171N
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
G |
2: 151,313,977 (GRCm39) |
L567P |
probably damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,971,746 (GRCm39) |
L75P |
probably damaging |
Het |
| Ap1m2 |
A |
T |
9: 21,217,006 (GRCm39) |
V110E |
possibly damaging |
Het |
| Bzw1 |
T |
C |
1: 58,436,979 (GRCm39) |
L70P |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,320,714 (GRCm39) |
K1347R |
probably damaging |
Het |
| Cd320 |
T |
C |
17: 34,067,138 (GRCm39) |
V209A |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,231,620 (GRCm39) |
E1156G |
possibly damaging |
Het |
| Dop1a |
A |
G |
9: 86,403,477 (GRCm39) |
D1559G |
probably damaging |
Het |
| Kel |
A |
T |
6: 41,680,404 (GRCm39) |
W19R |
probably benign |
Het |
| Ksr1 |
G |
A |
11: 79,036,904 (GRCm39) |
Q68* |
probably null |
Het |
| Leo1 |
G |
A |
9: 75,357,795 (GRCm39) |
D397N |
possibly damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Mapre3 |
T |
A |
5: 31,019,232 (GRCm39) |
N25K |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,302,143 (GRCm39) |
K964* |
probably null |
Het |
| Nav3 |
G |
C |
10: 109,572,860 (GRCm39) |
H1600D |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,442,289 (GRCm39) |
M513T |
probably benign |
Het |
| Rnf20 |
A |
G |
4: 49,651,496 (GRCm39) |
E654G |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tfcp2l1 |
C |
A |
1: 118,560,043 (GRCm39) |
P45Q |
probably damaging |
Het |
| Usp54 |
C |
T |
14: 20,611,178 (GRCm39) |
V1213I |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,976,062 (GRCm39) |
Q777L |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTAAGCTGAATTATTGGCAGGC -3'
(R):5'- TGTGGGGACAGCTCATTAGACAGG -3'
Sequencing Primer
(F):5'- GCTGAATTATTGGCAGGCATTAC -3'
(R):5'- TTAGACAGGCATCTCATGCAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation