Incidental Mutation 'R6772:Rlbp1'
ID |
543636 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rlbp1
|
Ensembl Gene |
ENSMUSG00000039194 |
Gene Name |
retinaldehyde binding protein 1 |
Synonyms |
3110056M11Rik, CRALBP |
MMRRC Submission |
044888-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6772 (G1)
|
Quality Score |
54.0073 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
79024618-79036796 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
G to A
at 79033798 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146075
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053718]
[ENSMUST00000179243]
[ENSMUST00000205442]
[ENSMUST00000205638]
[ENSMUST00000206162]
[ENSMUST00000206320]
[ENSMUST00000206695]
|
AlphaFold |
Q9Z275 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053718
|
SMART Domains |
Protein: ENSMUSP00000054545 Gene: ENSMUSG00000039194
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
25 |
N/A |
INTRINSIC |
low complexity region
|
54 |
68 |
N/A |
INTRINSIC |
CRAL_TRIO_N
|
92 |
117 |
1.18e-7 |
SMART |
SEC14
|
139 |
294 |
3.07e-42 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179243
|
SMART Domains |
Protein: ENSMUSP00000137143 Gene: ENSMUSG00000039194
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
25 |
N/A |
INTRINSIC |
low complexity region
|
54 |
68 |
N/A |
INTRINSIC |
CRAL_TRIO_N
|
92 |
117 |
1.18e-7 |
SMART |
SEC14
|
139 |
294 |
3.07e-42 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205442
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205638
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206162
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206320
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206695
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
Validation Efficiency |
97% (36/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene display delayed dark adaptation as well as reduced retinal degeneration. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,126,276 (GRCm39) |
D1144V |
probably damaging |
Het |
Ankrd13a |
A |
G |
5: 114,939,804 (GRCm39) |
H477R |
probably benign |
Het |
Anxa3 |
A |
T |
5: 96,958,972 (GRCm39) |
I27F |
probably damaging |
Het |
Aplf |
T |
C |
6: 87,640,781 (GRCm39) |
E76G |
possibly damaging |
Het |
Bbs1 |
A |
G |
19: 4,956,618 (GRCm39) |
|
probably benign |
Het |
Camk2a |
T |
C |
18: 61,102,092 (GRCm39) |
S332P |
probably benign |
Het |
Casz1 |
T |
A |
4: 149,027,663 (GRCm39) |
F1013L |
probably damaging |
Het |
Cd109 |
A |
T |
9: 78,588,092 (GRCm39) |
I707F |
possibly damaging |
Het |
Cd4 |
G |
A |
6: 124,849,421 (GRCm39) |
T202I |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,914,983 (GRCm39) |
S997P |
probably benign |
Het |
Cfap77 |
T |
C |
2: 28,944,951 (GRCm39) |
T24A |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,621,609 (GRCm39) |
R1019H |
probably damaging |
Het |
Epb41l4b |
C |
A |
4: 57,063,140 (GRCm39) |
V517F |
probably benign |
Het |
Exosc10 |
G |
A |
4: 148,665,591 (GRCm39) |
D818N |
probably damaging |
Het |
Furin |
C |
T |
7: 80,043,240 (GRCm39) |
G324S |
probably damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ifi206 |
T |
C |
1: 173,308,773 (GRCm39) |
M408V |
unknown |
Het |
Kdm4a |
T |
C |
4: 117,999,752 (GRCm39) |
|
probably null |
Het |
Neo1 |
T |
A |
9: 58,810,259 (GRCm39) |
Q1064L |
probably damaging |
Het |
Nphp4 |
G |
A |
4: 152,628,863 (GRCm39) |
V750I |
probably benign |
Het |
Pcdhac1 |
T |
C |
18: 37,223,289 (GRCm39) |
V34A |
probably benign |
Het |
Pdk4 |
T |
C |
6: 5,487,141 (GRCm39) |
I302V |
probably benign |
Het |
Prl6a1 |
A |
G |
13: 27,503,031 (GRCm39) |
D209G |
probably damaging |
Het |
Pspn |
T |
C |
17: 57,306,515 (GRCm39) |
Q138R |
probably benign |
Het |
Ptgs2 |
A |
G |
1: 149,977,829 (GRCm39) |
Y134C |
probably damaging |
Het |
Rpia |
T |
C |
6: 70,762,532 (GRCm39) |
I108V |
probably benign |
Het |
Tcaf1 |
A |
T |
6: 42,652,210 (GRCm39) |
H757Q |
probably damaging |
Het |
Ttc8 |
A |
C |
12: 98,909,848 (GRCm39) |
S143R |
probably damaging |
Het |
Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
A |
T |
4: 139,194,541 (GRCm39) |
K4280* |
probably null |
Het |
Vmn2r15 |
C |
A |
5: 109,434,238 (GRCm39) |
S822I |
probably damaging |
Het |
Vps53 |
A |
T |
11: 76,070,324 (GRCm39) |
M1K |
probably null |
Het |
Zfp362 |
A |
G |
4: 128,684,053 (GRCm39) |
M18T |
possibly damaging |
Het |
Zfp429 |
A |
G |
13: 67,538,317 (GRCm39) |
C376R |
probably damaging |
Het |
Zfyve9 |
T |
C |
4: 108,496,466 (GRCm39) |
N1395S |
probably damaging |
Het |
Zmynd8 |
T |
A |
2: 165,649,521 (GRCm39) |
Q857H |
probably benign |
Het |
|
Other mutations in Rlbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02435:Rlbp1
|
APN |
7 |
79,031,414 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02606:Rlbp1
|
APN |
7 |
79,027,037 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1433:Rlbp1
|
UTSW |
7 |
79,033,686 (GRCm39) |
missense |
probably benign |
0.05 |
R1434:Rlbp1
|
UTSW |
7 |
79,029,661 (GRCm39) |
splice site |
probably null |
|
R1540:Rlbp1
|
UTSW |
7 |
79,029,808 (GRCm39) |
missense |
probably damaging |
0.98 |
R1716:Rlbp1
|
UTSW |
7 |
79,025,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R4987:Rlbp1
|
UTSW |
7 |
79,029,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R5228:Rlbp1
|
UTSW |
7 |
79,027,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R6227:Rlbp1
|
UTSW |
7 |
79,029,876 (GRCm39) |
missense |
probably benign |
0.38 |
R7086:Rlbp1
|
UTSW |
7 |
79,029,813 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7174:Rlbp1
|
UTSW |
7 |
79,027,090 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7352:Rlbp1
|
UTSW |
7 |
79,031,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R7552:Rlbp1
|
UTSW |
7 |
79,029,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R8809:Rlbp1
|
UTSW |
7 |
79,025,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R8826:Rlbp1
|
UTSW |
7 |
79,027,114 (GRCm39) |
missense |
probably benign |
0.00 |
R9251:Rlbp1
|
UTSW |
7 |
79,027,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R9322:Rlbp1
|
UTSW |
7 |
79,027,003 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCCAAGATCTGTGCTCAG -3'
(R):5'- ACAAGTCCTTCAGAGCTAGGTAGG -3'
Sequencing Primer
(F):5'- GGCCCCAGAGAGATTGTTG -3'
(R):5'- GGAAGGAGGGCTCTAATTTTAGTCC -3'
|
Posted On |
2019-04-12 |