Incidental Mutation 'R6778:Rdh10'
| ID |
531356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rdh10
|
| Ensembl Gene |
ENSMUSG00000025921 |
| Gene Name |
retinol dehydrogenase 10 (all-trans) |
| Synonyms |
3110069K09Rik, m366Asp, 4921506A21Rik, D1Ertd762e |
| MMRRC Submission |
044894-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.888)
|
| Stock # |
R6778 (G1)
|
| Quality Score |
84.0076 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
16176106-16202774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16176408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 56
(F56S)
|
| 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: F56S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027053
Gene: ENSMUSG00000025921
AA Change: F56S
| 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 |
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
T |
A |
10: 61,061,231 (GRCm39) |
N403Y |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,072,599 (GRCm39) |
E989G |
probably damaging |
Het |
| Aoc2 |
A |
G |
11: 101,216,187 (GRCm39) |
N90S |
probably damaging |
Het |
| Apol9a |
T |
C |
15: 77,288,533 (GRCm39) |
Y278C |
probably benign |
Het |
| Casq2 |
T |
A |
3: 102,035,247 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
T |
A |
8: 129,547,601 (GRCm39) |
T1284S |
possibly damaging |
Het |
| Dlat |
A |
G |
9: 50,562,157 (GRCm39) |
L289P |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 30,854,640 (GRCm39) |
P101S |
probably benign |
Het |
| Dzip3 |
C |
A |
16: 48,802,446 (GRCm39) |
A28S |
probably benign |
Het |
| Ffar4 |
A |
G |
19: 38,102,112 (GRCm39) |
E249G |
possibly damaging |
Het |
| Fubp3 |
A |
T |
2: 31,488,685 (GRCm39) |
K180N |
possibly damaging |
Het |
| Gm7489 |
T |
A |
15: 53,749,348 (GRCm39) |
|
probably benign |
Het |
| Ifitm6 |
A |
T |
7: 140,596,056 (GRCm39) |
M59K |
possibly damaging |
Het |
| Igkv4-80 |
A |
T |
6: 68,993,545 (GRCm39) |
Y115* |
probably null |
Het |
| Igsf21 |
G |
T |
4: 139,761,959 (GRCm39) |
R240S |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,649,742 (GRCm39) |
N942K |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 65,021,630 (GRCm39) |
T35K |
possibly damaging |
Het |
| Mvk |
T |
A |
5: 114,590,441 (GRCm39) |
D193E |
probably benign |
Het |
| Npas2 |
T |
A |
1: 39,364,381 (GRCm39) |
M241K |
possibly damaging |
Het |
| Npsr1 |
T |
A |
9: 24,165,914 (GRCm39) |
I100N |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,472,639 (GRCm39) |
D50G |
probably damaging |
Het |
| Or10d4c |
T |
A |
9: 39,558,043 (GRCm39) |
V7E |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,965,645 (GRCm39) |
D604G |
probably damaging |
Het |
| Pitx2 |
C |
T |
3: 129,012,392 (GRCm39) |
P254L |
probably damaging |
Het |
| Rin1 |
T |
C |
19: 5,104,914 (GRCm39) |
L647P |
probably damaging |
Het |
| Sgk3 |
T |
A |
1: 9,956,369 (GRCm39) |
|
probably null |
Het |
| Sgpp1 |
A |
G |
12: 75,763,068 (GRCm39) |
I371T |
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,313,343 (GRCm39) |
Y872C |
possibly damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,868,522 (GRCm39) |
K367R |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,052,406 (GRCm39) |
F7487L |
probably damaging |
Het |
| Tars1 |
T |
C |
15: 11,389,785 (GRCm39) |
N375S |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,801,425 (GRCm39) |
Y320C |
probably damaging |
Het |
| Tbl1xr1 |
T |
A |
3: 22,243,946 (GRCm39) |
F73L |
probably benign |
Het |
| Tmem145 |
G |
A |
7: 25,010,801 (GRCm39) |
V378I |
probably benign |
Het |
| Tmprss11d |
T |
C |
5: 86,457,209 (GRCm39) |
H150R |
probably benign |
Het |
| Tnc |
T |
G |
4: 63,913,835 (GRCm39) |
I1326L |
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,952,500 (GRCm39) |
Y502C |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,916,512 (GRCm39) |
I811V |
probably benign |
Het |
| Vmn1r71 |
C |
T |
7: 10,482,143 (GRCm39) |
A182T |
probably benign |
Het |
| Wdr47 |
T |
A |
3: 108,540,412 (GRCm39) |
N602K |
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 |
|
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 |
|
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'- AAGTTGACAACTCCCGCGTC -3'
(R):5'- ACTAGGCAGTGGAGACCCTC -3'
Sequencing Primer
(F):5'- TAACTCGCGGCTGTCACC -3'
(R):5'- TCCGGGCTGGGGAGATG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation