Incidental Mutation 'RF058:Rtbdn'
| ID |
605330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtbdn
|
| Ensembl Gene |
ENSMUSG00000048617 |
| Gene Name |
retbindin |
| Synonyms |
A330096I21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF058 (G1)
|
| Quality Score |
217.47 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85673620-85683232 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
GCAGCG to GCAGCGACAGCG
at 85682801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065049]
[ENSMUST00000067472]
[ENSMUST00000109736]
[ENSMUST00000109738]
[ENSMUST00000109740]
[ENSMUST00000121880]
[ENSMUST00000128972]
[ENSMUST00000147812]
[ENSMUST00000152378]
|
| AlphaFold |
Q8QZY4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065049
|
| SMART Domains |
Protein: ENSMUSP00000066769
Gene: ENSMUSG00000052926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
7.1e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067472
|
| SMART Domains |
Protein: ENSMUSP00000070558
Gene: ENSMUSG00000048617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_rec
|
27 |
203 |
2e-40 |
PFAM |
|
low complexity region
|
224 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109736
|
| SMART Domains |
Protein: ENSMUSP00000105358
Gene: ENSMUSG00000052926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109738
|
| SMART Domains |
Protein: ENSMUSP00000105360
Gene: ENSMUSG00000052926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
5.5e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109740
|
| SMART Domains |
Protein: ENSMUSP00000105362
Gene: ENSMUSG00000048617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_rec
|
27 |
203 |
3.5e-42 |
PFAM |
|
low complexity region
|
224 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121880
|
| SMART Domains |
Protein: ENSMUSP00000113982
Gene: ENSMUSG00000048617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_rec
|
27 |
203 |
3.5e-42 |
PFAM |
|
low complexity region
|
224 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128972
|
| SMART Domains |
Protein: ENSMUSP00000121864
Gene: ENSMUSG00000052926
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:RNase_HII
|
57 |
268 |
1.4e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147812
|
| SMART Domains |
Protein: ENSMUSP00000120374
Gene: ENSMUSG00000052926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_HII
|
31 |
242 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152378
|
| SMART Domains |
Protein: ENSMUSP00000132841
Gene: ENSMUSG00000048617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_rec
|
2 |
172 |
2.8e-38 |
PFAM |
|
low complexity region
|
193 |
203 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was first identified in a study of human eye tissues. The protein encoded by this gene is preferentially expressed in the retina and may play a role in binding retinoids and other carotenoids as it shares homology with riboflavin binding proteins. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110021N24Rik |
GAGCGCGGCC |
G |
4: 108,637,826 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AAGGAAAAGGTGGCCAG |
AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG |
6: 131,529,850 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
CAG |
CAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,864 (GRCm39) |
|
probably benign |
Het |
| Alg9 |
GGC |
GGCTGC |
9: 50,686,727 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
CGGGGG |
CGGGGGGGG |
17: 5,045,858 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
GC |
GCTCCCTC |
6: 125,099,094 (GRCm39) |
|
probably benign |
Het |
| Chga |
CAG |
CAGAAG |
12: 102,527,675 (GRCm39) |
|
probably benign |
Het |
| Cort |
GCCCACTCGT |
G |
4: 149,209,869 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
GT |
GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT |
17: 23,981,151 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TCT |
TCTACT |
X: 74,043,608 (GRCm39) |
|
probably benign |
Het |
| Gabre |
C |
CCGGCTG |
X: 71,313,669 (GRCm39) |
|
probably benign |
Het |
| Haus4 |
CACTTAAAAAAAAAA |
CA |
14: 54,787,492 (GRCm39) |
|
probably benign |
Het |
| Il2 |
AG |
AGGGCTTGAAGTGG |
3: 37,179,966 (GRCm39) |
|
probably benign |
Het |
| Il2 |
CTTGAAGTGG |
CTTGAAGTGGGGATTGAAGTGG |
3: 37,179,970 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
TCCTCCTCC |
TC |
9: 21,192,362 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
ACAGCCACCACAGCCACAGCCACCACAGC |
ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC |
1: 83,019,983 (GRCm39) |
|
probably benign |
Het |
| Mbd1 |
CGTCTTCGTCTGCATCTGCATCTGCA |
C |
18: 74,406,680 (GRCm39) |
|
probably null |
Het |
| Nefh |
CCTC |
CCTCGCCTGGGGACTTGGACTC |
11: 4,891,021 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GTGGTGGT |
GTGGTGGTATTGGTGGT |
7: 127,384,490 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
ACCT |
A |
17: 48,666,975 (GRCm39) |
|
probably null |
Het |
| Triobp |
CTCCCTGTGCCCAAC |
CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC |
15: 78,851,244 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
CCCACCACCACAACCACCACCACCACCACCAC |
CCCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 24,899,735 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rtbdn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02892:Rtbdn
|
APN |
8 |
85,681,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03192:Rtbdn
|
APN |
8 |
85,679,284 (GRCm39) |
missense |
probably benign |
0.32 |
|
FR4342:Rtbdn
|
UTSW |
8 |
85,682,807 (GRCm39) |
small insertion |
probably benign |
|
|
FR4342:Rtbdn
|
UTSW |
8 |
85,682,797 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Rtbdn
|
UTSW |
8 |
85,682,800 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Rtbdn
|
UTSW |
8 |
85,682,805 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Rtbdn
|
UTSW |
8 |
85,682,797 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Rtbdn
|
UTSW |
8 |
85,682,790 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Rtbdn
|
UTSW |
8 |
85,682,806 (GRCm39) |
small insertion |
probably benign |
|
|
R1581:Rtbdn
|
UTSW |
8 |
85,681,695 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5057:Rtbdn
|
UTSW |
8 |
85,681,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Rtbdn
|
UTSW |
8 |
85,679,303 (GRCm39) |
missense |
probably null |
1.00 |
|
R7570:Rtbdn
|
UTSW |
8 |
85,679,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF023:Rtbdn
|
UTSW |
8 |
85,682,795 (GRCm39) |
small insertion |
probably benign |
|
|
RF024:Rtbdn
|
UTSW |
8 |
85,682,808 (GRCm39) |
small insertion |
probably benign |
|
|
RF025:Rtbdn
|
UTSW |
8 |
85,682,804 (GRCm39) |
small insertion |
probably benign |
|
|
RF034:Rtbdn
|
UTSW |
8 |
85,682,804 (GRCm39) |
small insertion |
probably benign |
|
|
RF046:Rtbdn
|
UTSW |
8 |
85,682,808 (GRCm39) |
small insertion |
probably benign |
|
|
RF050:Rtbdn
|
UTSW |
8 |
85,682,799 (GRCm39) |
small insertion |
probably benign |
|
|
RF056:Rtbdn
|
UTSW |
8 |
85,682,801 (GRCm39) |
small insertion |
probably benign |
|
|
RF056:Rtbdn
|
UTSW |
8 |
85,682,799 (GRCm39) |
small insertion |
probably benign |
|
|
RF057:Rtbdn
|
UTSW |
8 |
85,682,795 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCATACCTAGTCCAGAAGAC -3'
(R):5'- GTGTTTTCCCAAGCAGCAGC -3'
Sequencing Primer
(F):5'- AGCCCAGAGACTCAGGTTC -3'
(R):5'- CAAGCAGCAGCCATGTCGTATG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation