Incidental Mutation 'IGL03192:Rtbdn'
ID |
412677 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rtbdn
|
Ensembl Gene |
ENSMUSG00000048617 |
Gene Name |
retbindin |
Synonyms |
A330096I21Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03192
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
85673620-85683232 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 85679284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 30
(S30T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132841
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067472]
[ENSMUST00000109736]
[ENSMUST00000109738]
[ENSMUST00000109740]
[ENSMUST00000121880]
[ENSMUST00000152378]
|
AlphaFold |
Q8QZY4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067472
AA Change: S61T
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000070558 Gene: ENSMUSG00000048617 AA Change: S61T
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
AA Change: S61T
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000105362 Gene: ENSMUSG00000048617 AA Change: S61T
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
AA Change: S61T
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000113982 Gene: ENSMUSG00000048617 AA Change: S61T
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: ENSMUST00000152378
AA Change: S30T
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000132841 Gene: ENSMUSG00000048617 AA Change: S30T
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 |
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh7 |
G |
A |
3: 137,933,721 (GRCm39) |
G293S |
probably damaging |
Het |
Ahi1 |
G |
A |
10: 20,841,534 (GRCm39) |
V274I |
probably benign |
Het |
Arfip2 |
C |
T |
7: 105,287,150 (GRCm39) |
R138H |
probably damaging |
Het |
Asb8 |
G |
A |
15: 98,033,776 (GRCm39) |
R260C |
possibly damaging |
Het |
Cfh |
A |
T |
1: 140,026,759 (GRCm39) |
H531Q |
possibly damaging |
Het |
Clcn7 |
C |
A |
17: 25,352,575 (GRCm39) |
P42Q |
probably benign |
Het |
Cxcr6 |
G |
T |
9: 123,639,111 (GRCm39) |
K37N |
possibly damaging |
Het |
Fndc3c1 |
C |
T |
X: 105,479,922 (GRCm39) |
|
probably null |
Het |
Gramd1b |
A |
T |
9: 40,218,097 (GRCm39) |
L429H |
probably damaging |
Het |
Grm1 |
T |
C |
10: 10,955,660 (GRCm39) |
D208G |
possibly damaging |
Het |
H2-T24 |
C |
T |
17: 36,326,368 (GRCm39) |
W177* |
probably null |
Het |
Il17rc |
G |
A |
6: 113,449,846 (GRCm39) |
V151M |
probably damaging |
Het |
Magi3 |
A |
G |
3: 103,950,562 (GRCm39) |
F741S |
probably damaging |
Het |
Neil1 |
A |
G |
9: 57,050,819 (GRCm39) |
S339P |
probably benign |
Het |
Nptx1 |
T |
A |
11: 119,437,585 (GRCm39) |
N182I |
probably benign |
Het |
Or3a1c |
T |
A |
11: 74,046,076 (GRCm39) |
I32K |
probably benign |
Het |
Phtf2 |
A |
G |
5: 20,966,717 (GRCm39) |
V723A |
probably damaging |
Het |
Rbp3 |
G |
T |
14: 33,680,540 (GRCm39) |
M1047I |
possibly damaging |
Het |
Rhobtb1 |
A |
G |
10: 69,084,653 (GRCm39) |
I15V |
probably damaging |
Het |
Serinc4 |
G |
T |
2: 121,282,872 (GRCm39) |
S430* |
probably null |
Het |
Slc25a33 |
A |
G |
4: 149,829,223 (GRCm39) |
I312T |
probably damaging |
Het |
Speer3 |
A |
G |
5: 13,841,702 (GRCm39) |
R11G |
possibly damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,291,709 (GRCm39) |
|
probably benign |
Het |
Unc93a |
A |
T |
17: 13,335,073 (GRCm39) |
Y324* |
probably null |
Het |
Wdr31 |
A |
T |
4: 62,372,149 (GRCm39) |
D322E |
possibly damaging |
Het |
Zbtb9 |
A |
G |
17: 27,193,272 (GRCm39) |
T226A |
probably benign |
Het |
Zfyve16 |
T |
C |
13: 92,657,748 (GRCm39) |
E721G |
possibly damaging |
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 |
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 |
|
RF058:Rtbdn
|
UTSW |
8 |
85,682,801 (GRCm39) |
small insertion |
probably benign |
|
|
Posted On |
2016-08-02 |