Incidental Mutation 'RF056:Rtbdn'
| ID |
605276 |
| 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 # |
RF056 (G1)
|
| Quality Score |
140.468 |
|
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) |
CGG to CGGAAGAGG
at 85682799 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: 98.6%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Begain |
CG |
CGCCGCAG |
12: 108,999,362 (GRCm39) |
|
probably benign |
Het |
| Bhlhb9 |
C |
T |
X: 134,791,239 (GRCm39) |
L484F |
possibly damaging |
Het |
| Cacna1f |
GA |
GAGTA |
X: 7,486,314 (GRCm39) |
|
probably null |
Het |
| Chga |
GCA |
GCATCA |
12: 102,527,683 (GRCm39) |
|
probably benign |
Het |
| Cnpy3 |
CCT |
CCTACT |
17: 47,047,670 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
CACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
CACACTGCCCAGGGATGTGACAGAGACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,463 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
T |
TAGAGGTGGAAGTGGTGGAAGTGGTGGA |
7: 30,466,632 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
GCCGCC |
GCCGCCTCCGCC |
4: 141,602,078 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
C |
CAGCAGA |
2: 83,643,240 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
CTGAGGGAGGA |
CTGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTATGAGGGAGGA |
7: 44,149,951 (GRCm39) |
|
probably null |
Het |
| Gm10181 |
GAGAGAGAGAGAGA |
G |
9: 25,000,761 (GRCm39) |
|
probably null |
Het |
| Gm16494 |
TTT |
TTTT |
17: 47,327,841 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
CCACAGCTGCAG |
CCACAGCTGCAGCAGCAGCACAGCTGCAG |
4: 59,610,647 (GRCm39) |
|
probably null |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,414 (GRCm39) |
|
probably benign |
Het |
| Nelfe |
A |
AGCGGGATCGAGACAGAGACAAAGG |
17: 35,073,047 (GRCm39) |
|
probably benign |
Het |
| Ngfr |
CAGG |
C |
11: 95,478,337 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GTTAGCAGTGAGGAGCAAGCTGAGA |
GTTAGCAGTGAGGAGCAAGCTGAGATACACTTTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,067 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
TACACGTTAGCAGTGAGGAGCAAGCTGAGAC |
TACACGTTAGCAGTGAGGAGCAAGCTGAGACACACGTTAGCAGTGAGGAGCAAGCTGAGAC |
2: 119,458,062 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CAGTGAGGAGCAAGCTGAGA |
CAGTGAGGAGCAAGCTGAGATACACGTTAGGAGTGAGGAGCAAGCTGAGA |
2: 119,458,072 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
A |
ATAGG |
9: 39,598,050 (GRCm39) |
|
probably null |
Het |
| Pdik1l |
TTGCACC |
TTGCACCTGCACC |
4: 134,006,813 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
C |
CCACCAA |
4: 134,006,827 (GRCm39) |
|
probably benign |
Het |
| Pqbp1 |
ACACACACACACC |
A |
X: 7,764,998 (GRCm39) |
|
probably benign |
Het |
| Rbm28 |
AGCAACACCTCTCACCTGGGGCAGAAGCA |
AGCAACACCTCTCACCTGGGGCAGAAGCAACACCTCTCACCTGGGGCAGAAGCA |
6: 29,157,052 (GRCm39) |
|
probably null |
Het |
| Rnf126 |
GAGGAC |
G |
10: 79,594,976 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
CAGAGCCTGTGGTGCTCGCAGG |
C |
3: 95,673,631 (GRCm39) |
|
probably benign |
Het |
| Sbp |
ACAAAGATGCTGACA |
ACAAAGATGCTGACAGCAAAGATGCTGACA |
17: 24,164,340 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
GTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,475 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
TGGTGGTGG |
TGGTGGTGGGGGTGGTGG |
7: 127,384,500 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2b |
CCTGTG |
CCTGTGGCTGTG |
11: 32,373,055 (GRCm39) |
|
probably benign |
Het |
| Taf1a |
CACGTTGAAGCTGTAGGTAAGTGAGACAGCGTTGAAGCTGTAGGTAAGTGAGACA |
CGCGTTGAAGCTGTAGGTAAGTGAGACA |
1: 183,172,369 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
TCCCCTTGGC |
TCCCCTTGGCTGCTGAGATGGGCACTTTCCTAGAGACCCCCTTGGC |
18: 60,966,647 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
CCAG |
CCAGCAG |
6: 115,537,025 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CAGAGCCAGAGCCAGAGCAAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,359 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
CCCAGGC |
CCCAGGCCCAGGGCCAGGC |
6: 125,013,453 (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 |
|
|
RF057:Rtbdn
|
UTSW |
8 |
85,682,795 (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'- TCGTATGGCATGGTCTAGGC -3'
Sequencing Primer
(F):5'- AGCCCAGAGACTCAGGTTC -3'
(R):5'- CATGGTCTAGGCTGGCAAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation