Incidental Mutation 'RF057:Rtbdn'
| ID |
605306 |
| 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 # |
RF057 (G1)
|
| Quality Score |
214.974 |
|
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 85682795 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: 99.6%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030445D17Rik |
GCACATGCACACACA |
GCACA |
4: 136,189,617 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
AAGGCACCGAC |
A |
7: 80,742,165 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
CGGC |
CGGCGGTGGC |
18: 36,693,982 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
GCTGTGGC |
GCTGTGGCTGTGTCTGTGGC |
19: 47,129,709 (GRCm39) |
|
probably benign |
Het |
| Crtam |
TTCTTGATCTGAA |
T |
9: 40,895,650 (GRCm39) |
|
probably null |
Het |
| Cul9 |
CCT |
CCTACT |
17: 46,811,789 (GRCm39) |
|
probably null |
Het |
| Dmkn |
GAAGTGGTGGAAGTGGTGG |
GAAGTGGTGGAAGTGGTGGAAGTGGTGTAAGTGGTGGAAGTGGTGG |
7: 30,466,613 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
CGCCG |
CGCCGAAGCCG |
4: 141,602,080 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
CGCTC |
CGCTCGCTC |
6: 137,494,062 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
GGAGGA |
GGAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGTGAGGA |
7: 44,149,956 (GRCm39) |
|
probably null |
Het |
| Gm16519 |
AAGCAG |
AAGCAGCAG |
17: 71,236,326 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
CGCC |
CGCCGCC |
11: 99,277,025 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
CCAACA |
CCAACAGTTCCCTCGCCTCTGTTACCCCACAAATCAACAACA |
11: 58,281,065 (GRCm39) |
|
probably benign |
Het |
| Mapk6 |
CCCCA |
CCCCATCCCA |
9: 75,295,540 (GRCm39) |
|
probably null |
Het |
| Med12l |
GCA |
GCATCA |
3: 59,183,401 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GTCAGGCAGTGA |
GTCAGGCAGTGACTCAGGCAGTGA |
19: 42,064,545 (GRCm39) |
|
probably null |
Het |
| Pdik1l |
TTTTTGTTTT |
TTTTTGTTTTGGTTTTGTTTT |
4: 134,006,679 (GRCm39) |
|
probably null |
Het |
| Prp2 |
CACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCA |
C |
6: 132,577,493 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
TTTCCCAGAGATCCCCTTGGC |
TTTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACCTTCCCAGAGATCCCCTTGGC |
18: 60,966,636 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
GAGATCCCCTTGGC |
GAGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCATAGATCCCCTTGGC |
18: 60,966,643 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
TCCCAGAGATCCCCTTGGC |
TCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTTGCCCAGAGATCCCCTTGGC |
18: 60,966,638 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
TTCCCAGAGATCCCCTTGGC |
TTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTGTCCCAGAGATCCCCTTGGC |
18: 60,966,637 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
CAGAAT |
CAGAATCACCTCCCGTGGGCTTGCGAGAAT |
6: 72,593,052 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
15: 72,673,144 (GRCm39) |
|
probably benign |
Het |
| Ttn |
ACCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTC |
2: 76,673,734 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
C |
CCCAGGCCCAGGG |
6: 125,013,459 (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 |
|
|
RF058:Rtbdn
|
UTSW |
8 |
85,682,801 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCATACCTAGTCCAGAAGAC -3'
(R):5'- AGCAGCAGCCATGTCGTATG -3'
Sequencing Primer
(F):5'- AGCCCAGAGACTCAGGTTC -3'
(R):5'- CATGGTCTAGGCTGGCAAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation