Incidental Mutation 'R3033:Selenbp1'
| ID |
263337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Selenbp1
|
| Ensembl Gene |
ENSMUSG00000068874 |
| Gene Name |
selenium binding protein 1 |
| Synonyms |
Lp56, Lpsb |
| MMRRC Submission |
040549-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3033 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
94840394-94852069 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94845351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 149
(V149A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090839]
[ENSMUST00000134202]
[ENSMUST00000140757]
|
| AlphaFold |
P17563 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090839
AA Change: V149A
PolyPhen 2
Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000088349
Gene: ENSMUSG00000068874
AA Change: V149A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SBP56
|
6 |
472 |
3.2e-225 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134202
|
| SMART Domains |
Protein: ENSMUSP00000120159
Gene: ENSMUSG00000068874
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SBP56
|
6 |
123 |
4.7e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139949
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140757
|
| SMART Domains |
Protein: ENSMUSP00000118563
Gene: ENSMUSG00000068874
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SBP56
|
6 |
123 |
4.7e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145551
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit sex-specific changes in organ weights. Mice homozygous for a different allele lack methanethiol oxidase activity and exhibit an increase in dimethylsulfide and dimethyl-sulfone serum levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,184,227 (GRCm39) |
D591G |
probably benign |
Het |
| Aqp4 |
T |
A |
18: 15,526,617 (GRCm39) |
E288V |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,562,943 (GRCm39) |
Y894C |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Dennd4c |
AGGAGCTCCTGGAGC |
AGGAGC |
4: 86,743,557 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,150,333 (GRCm39) |
D810G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,191,366 (GRCm39) |
I222T |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,830,721 (GRCm39) |
T159S |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,219,734 (GRCm39) |
E1002G |
possibly damaging |
Het |
| Gm5414 |
T |
C |
15: 101,533,044 (GRCm39) |
E461G |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,997,821 (GRCm39) |
C359* |
probably null |
Het |
| Ift88 |
G |
A |
14: 57,715,501 (GRCm39) |
D515N |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,733,160 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
T |
C |
11: 58,275,453 (GRCm39) |
Y63H |
probably damaging |
Het |
| Mcm3 |
A |
T |
1: 20,878,992 (GRCm39) |
Y594N |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,568,966 (GRCm39) |
M322V |
probably benign |
Het |
| Neurl2 |
T |
C |
2: 164,674,975 (GRCm39) |
E129G |
probably benign |
Het |
| Nr2f2 |
A |
G |
7: 70,007,810 (GRCm39) |
V71A |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,981,613 (GRCm39) |
|
probably null |
Het |
| Smg9 |
A |
G |
7: 24,115,949 (GRCm39) |
D280G |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,912 (GRCm39) |
D555G |
probably damaging |
Het |
| Tomm70a |
G |
A |
16: 56,942,388 (GRCm39) |
G55D |
probably damaging |
Het |
| Tpte |
T |
A |
8: 22,810,888 (GRCm39) |
S182T |
possibly damaging |
Het |
| Zfp58 |
T |
C |
13: 67,639,741 (GRCm39) |
E250G |
probably damaging |
Het |
|
| Other mutations in Selenbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01970:Selenbp1
|
APN |
3 |
94,844,313 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL03281:Selenbp1
|
APN |
3 |
94,844,621 (GRCm39) |
nonsense |
probably null |
|
|
PIT4131001:Selenbp1
|
UTSW |
3 |
94,844,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0415:Selenbp1
|
UTSW |
3 |
94,844,224 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1132:Selenbp1
|
UTSW |
3 |
94,844,644 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1421:Selenbp1
|
UTSW |
3 |
94,851,183 (GRCm39) |
missense |
probably benign |
|
|
R1522:Selenbp1
|
UTSW |
3 |
94,844,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Selenbp1
|
UTSW |
3 |
94,851,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1701:Selenbp1
|
UTSW |
3 |
94,844,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Selenbp1
|
UTSW |
3 |
94,851,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4363:Selenbp1
|
UTSW |
3 |
94,850,060 (GRCm39) |
splice site |
probably null |
|
|
R4631:Selenbp1
|
UTSW |
3 |
94,851,879 (GRCm39) |
makesense |
probably null |
|
|
R4798:Selenbp1
|
UTSW |
3 |
94,851,211 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4935:Selenbp1
|
UTSW |
3 |
94,845,269 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5464:Selenbp1
|
UTSW |
3 |
94,851,727 (GRCm39) |
missense |
probably benign |
|
|
R6253:Selenbp1
|
UTSW |
3 |
94,851,157 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6314:Selenbp1
|
UTSW |
3 |
94,844,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Selenbp1
|
UTSW |
3 |
94,851,745 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7330:Selenbp1
|
UTSW |
3 |
94,847,021 (GRCm39) |
missense |
probably benign |
|
|
R7637:Selenbp1
|
UTSW |
3 |
94,844,659 (GRCm39) |
nonsense |
probably null |
|
|
R7658:Selenbp1
|
UTSW |
3 |
94,851,413 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8739:Selenbp1
|
UTSW |
3 |
94,844,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8803:Selenbp1
|
UTSW |
3 |
94,851,821 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8987:Selenbp1
|
UTSW |
3 |
94,847,425 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9145:Selenbp1
|
UTSW |
3 |
94,851,414 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9209:Selenbp1
|
UTSW |
3 |
94,847,079 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9747:Selenbp1
|
UTSW |
3 |
94,844,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCGAGTTACCAGACTGAATC -3'
(R):5'- CTGGATAGGACTCAGCCAGTTC -3'
Sequencing Primer
(F):5'- CTGTCTTTCCTTAGGGAGAAGAAAAG -3'
(R):5'- GACTCAGCCAGTTCCCCCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation