Incidental Mutation 'R5158:Rdh10'
ID |
396808 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rdh10
|
Ensembl Gene |
ENSMUSG00000025921 |
Gene Name |
retinol dehydrogenase 10 (all-trans) |
Synonyms |
3110069K09Rik, m366Asp, 4921506A21Rik, D1Ertd762e |
MMRRC Submission |
042740-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.888)
|
Stock # |
R5158 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
16176106-16202774 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 16178221 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 164
(R164S)
|
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: R164S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027053 Gene: ENSMUSG00000025921 AA Change: R164S
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: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.9%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
C |
T |
17: 45,825,755 (GRCm39) |
T357I |
probably benign |
Het |
Abca14 |
A |
T |
7: 119,852,652 (GRCm39) |
R872S |
probably benign |
Het |
Adnp2 |
A |
G |
18: 80,180,758 (GRCm39) |
Y47H |
probably damaging |
Het |
Atp6v0d2 |
T |
C |
4: 19,878,292 (GRCm39) |
N327S |
probably damaging |
Het |
Ccdc190 |
A |
G |
1: 169,760,578 (GRCm39) |
R69G |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,901,059 (GRCm39) |
D213G |
probably damaging |
Het |
Clcn4 |
G |
A |
7: 7,294,618 (GRCm39) |
T381I |
possibly damaging |
Het |
Cobl |
A |
G |
11: 12,206,198 (GRCm39) |
F477S |
possibly damaging |
Het |
Ctdspl2 |
T |
A |
2: 121,811,774 (GRCm39) |
V205E |
probably benign |
Het |
Dhx37 |
A |
T |
5: 125,492,216 (GRCm39) |
Y1128N |
probably damaging |
Het |
Ehmt2 |
G |
A |
17: 35,130,640 (GRCm39) |
E1085K |
probably damaging |
Het |
Fam149a |
T |
G |
8: 45,803,472 (GRCm39) |
I340L |
possibly damaging |
Het |
Fut9 |
T |
A |
4: 25,620,731 (GRCm39) |
I28F |
probably benign |
Het |
Il36g |
T |
A |
2: 24,082,798 (GRCm39) |
I191K |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,392,816 (GRCm39) |
N716D |
probably benign |
Het |
Itgb7 |
T |
C |
15: 102,125,464 (GRCm39) |
D672G |
probably benign |
Het |
Kat6b |
A |
G |
14: 21,720,054 (GRCm39) |
M1469V |
possibly damaging |
Het |
Kif3a |
T |
C |
11: 53,479,578 (GRCm39) |
F430L |
probably benign |
Het |
L3mbtl3 |
T |
C |
10: 26,179,586 (GRCm39) |
D523G |
unknown |
Het |
Mcf2l |
A |
G |
8: 13,059,715 (GRCm39) |
Q736R |
probably damaging |
Het |
Mpl |
T |
G |
4: 118,313,881 (GRCm39) |
D128A |
probably damaging |
Het |
Myom3 |
T |
A |
4: 135,492,897 (GRCm39) |
C149S |
probably damaging |
Het |
N4bp2 |
A |
G |
5: 65,965,805 (GRCm39) |
I1285V |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,753,149 (GRCm39) |
Q279R |
probably damaging |
Het |
Ndc1 |
T |
G |
4: 107,232,362 (GRCm39) |
S182R |
probably damaging |
Het |
Ngf |
A |
T |
3: 102,427,445 (GRCm39) |
M65L |
possibly damaging |
Het |
Or2n1 |
T |
A |
17: 38,486,345 (GRCm39) |
Y123* |
probably null |
Het |
Pigb |
T |
C |
9: 72,929,683 (GRCm39) |
Y300C |
probably damaging |
Het |
Pla2g2a |
T |
G |
4: 138,560,595 (GRCm39) |
*69G |
probably null |
Het |
Ppp1r12b |
T |
C |
1: 134,814,166 (GRCm39) |
E379G |
probably damaging |
Het |
Ptdss2 |
T |
C |
7: 140,731,684 (GRCm39) |
F164S |
probably benign |
Het |
Ptprc |
T |
C |
1: 138,102,822 (GRCm39) |
T2A |
possibly damaging |
Het |
Ptprq |
T |
A |
10: 107,370,565 (GRCm39) |
N2042I |
probably damaging |
Het |
Sec31a |
A |
T |
5: 100,541,180 (GRCm39) |
I309N |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,599,409 (GRCm39) |
I710N |
unknown |
Het |
Slc25a30 |
A |
T |
14: 76,008,956 (GRCm39) |
L26Q |
probably damaging |
Het |
Sptan1 |
G |
A |
2: 29,868,455 (GRCm39) |
V34I |
probably damaging |
Het |
Sult1e1 |
A |
T |
5: 87,735,453 (GRCm39) |
I75N |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,951,885 (GRCm39) |
V938A |
probably benign |
Het |
Vps16 |
C |
T |
2: 130,283,199 (GRCm39) |
R531C |
probably damaging |
Het |
Zbtb22 |
C |
T |
17: 34,137,423 (GRCm39) |
H523Y |
probably damaging |
Het |
Zfp39 |
G |
A |
11: 58,780,671 (GRCm39) |
T697M |
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 |
|
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 |
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'- TCATCCGGACTTCTGAGGAC -3'
(R):5'- GACATTGTAACCCAGCATGTG -3'
Sequencing Primer
(F):5'- GACTTCTGAGGACAGCTGG -3'
(R):5'- CATGTGGGGACAGCTCATTAGAC -3'
|
Posted On |
2016-06-21 |