Incidental Mutation 'RF034:Rtbdn'
ID |
604493 |
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 # |
RF034 (G1)
|
Quality Score |
217.473 |
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) |
GCGGC to GCGGCATCGGC
at 85682804 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: 99.4%
- 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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
TGTGGCTGC |
TGTGGCTGCGGTGGCTGC |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
Acap3 |
GCATCCTGGGCTGCT |
GCATCCTGGGCTGCTACATCCTGGGCTGCT |
4: 155,989,549 (GRCm39) |
|
probably benign |
Het |
Alpk3 |
GAGAAGGCAC |
G |
7: 80,742,162 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
T |
TTATTATGATTATTAC |
3: 37,104,909 (GRCm39) |
|
probably benign |
Het |
Cox7a2l |
GGA |
GGATGGGGA |
17: 83,810,151 (GRCm39) |
|
probably benign |
Het |
Cpne1 |
TCCAC |
TC |
2: 155,915,430 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
CCCAGGGATGTGACAGACACACTG |
CCCAGGGATGTGACAGACACACTGACCAGGGATGTGACAGACACACTG |
9: 86,922,470 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
GA |
GATGTGACAGACACACTGCCCAGGTA |
9: 86,922,500 (GRCm39) |
|
probably null |
Het |
Defb22 |
TGCGGCA |
TGCGGCAGGGCTGGCCTTTGCGGCA |
2: 152,327,752 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
GGGCGGAGCACAGTTCCTACCTCGTT |
GGGCGGAGCACAGTTCCTACCTCGTTTTGGTGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,416 (GRCm39) |
|
probably null |
Het |
Fbrsl1 |
GTG |
GTGCGTGTGCTGTTG |
5: 110,526,015 (GRCm39) |
|
probably benign |
Het |
Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
Gabre |
GCTC |
GCTCTGTCTC |
X: 71,314,368 (GRCm39) |
|
probably benign |
Het |
Garin5a |
GGGTCTGAGGGAGGA |
GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA |
7: 44,149,947 (GRCm39) |
|
probably null |
Het |
Gm15155 |
CAA |
CAACAACAAA |
X: 155,128,636 (GRCm39) |
|
probably null |
Het |
Igf1r |
GGAGATGGAGC |
GGAGATGGAGCTAGAGATGGAGC |
7: 67,875,924 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CACCACAGC |
CACCACAGCCACAGCGACCACAGC |
1: 83,020,003 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
AGC |
AGCGGC |
X: 70,162,441 (GRCm39) |
|
probably benign |
Het |
Map1a |
CCAGCTCCAGCTCCA |
CCAGCTCCAGCTCCAGCTACAGCTCCAGATACAGCTCCAGCTCCA |
2: 121,136,785 (GRCm39) |
|
probably benign |
Het |
Map1a |
GCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA |
2: 121,136,788 (GRCm39) |
|
probably benign |
Het |
Neu1 |
TCTTCTA |
T |
17: 35,151,534 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
CAGCAGC |
CAGCAGCAGAAGCAGC |
19: 46,069,810 (GRCm39) |
|
probably benign |
Het |
Or7g32 |
G |
T |
9: 19,388,928 (GRCm39) |
A206E |
possibly damaging |
Het |
Pdik1l |
TTTT |
TTTTGTTTTTGGTTT |
4: 134,006,685 (GRCm39) |
|
probably null |
Het |
Rassf6 |
CACTCATGGTCCTGTAGAGCAATGGGGATTC |
CACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTGACTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,771 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
CTGTAGAGCAATGGGGATTC |
CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC |
5: 90,756,782 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
ATGGTCCTGTAGAGCAATGGGGATTC |
ATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTCGTGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,776 (GRCm39) |
|
probably benign |
Het |
Rpgrip1 |
AGAGGAGGA |
AGA |
14: 52,386,983 (GRCm39) |
|
probably benign |
Het |
Rprd2 |
AGAGCCTGTGGTGCTCGCAGGGGAGGCTGTGGTGCTC |
AGAGGCTGTGGTGCTC |
3: 95,673,632 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
CG |
CGAGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Smarca2 |
CA |
CACCAAGA |
19: 26,608,411 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCACCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
Tfeb |
CAG |
CAGTAG |
17: 48,097,023 (GRCm39) |
|
probably null |
Het |
Tmed6 |
AGC |
AGCTGGC |
8: 107,788,228 (GRCm39) |
|
probably null |
Het |
Tomm5 |
TCTTCCGC |
TCTTCCGCAGCTTCCGC |
4: 45,107,976 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
TG |
TGATGCTGCTGCTGCGG |
15: 72,673,147 (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 |
|
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 |
|
RF058:Rtbdn
|
UTSW |
8 |
85,682,801 (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 |