Incidental Mutation 'R1132:Selenbp1'
ID |
94675 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Selenbp1
|
Ensembl Gene |
ENSMUSG00000068874 |
Gene Name |
selenium binding protein 1 |
Synonyms |
Lp56, Lpsb |
MMRRC Submission |
039205-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1132 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94840394-94852069 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 94844644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 100
(I100M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118563
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090839]
[ENSMUST00000134202]
[ENSMUST00000140757]
|
AlphaFold |
P17563 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090839
AA Change: I100M
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000088349 Gene: ENSMUSG00000068874 AA Change: I100M
Domain | Start | End | E-Value | Type |
Pfam:SBP56
|
6 |
472 |
3.2e-225 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134202
AA Change: I100M
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000120159 Gene: ENSMUSG00000068874 AA Change: I100M
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
AA Change: I100M
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000118563 Gene: ENSMUSG00000068874 AA Change: I100M
Domain | Start | End | E-Value | Type |
Pfam:SBP56
|
6 |
123 |
4.7e-56 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145551
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apba1 |
T |
C |
19: 23,894,917 (GRCm39) |
V451A |
possibly damaging |
Het |
Atxn2l |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
7: 126,093,420 (GRCm39) |
|
probably benign |
Het |
C3 |
C |
T |
17: 57,514,531 (GRCm39) |
|
probably null |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Cd163 |
G |
T |
6: 124,286,055 (GRCm39) |
G202* |
probably null |
Het |
Cdk8 |
A |
G |
5: 146,236,625 (GRCm39) |
T347A |
probably benign |
Het |
Cep170 |
C |
A |
1: 176,577,603 (GRCm39) |
R1257L |
probably damaging |
Het |
Cib1 |
A |
G |
7: 79,877,778 (GRCm39) |
F168S |
probably damaging |
Het |
Cntnap5c |
G |
A |
17: 58,601,351 (GRCm39) |
G833D |
probably damaging |
Het |
Dhx37 |
A |
T |
5: 125,498,103 (GRCm39) |
I702N |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,538,227 (GRCm39) |
K3586R |
possibly damaging |
Het |
Fbxo31 |
ACGGCGCGGCG |
ACGGCGCGGCGCGGCG |
8: 122,279,015 (GRCm39) |
|
probably null |
Het |
Fbxo31 |
CGCGG |
CGCGGAGCGG |
8: 122,279,019 (GRCm39) |
|
probably null |
Het |
Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
Gaa |
T |
C |
11: 119,175,885 (GRCm39) |
S953P |
probably damaging |
Het |
Inpp5j |
T |
C |
11: 3,452,305 (GRCm39) |
E315G |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,708,464 (GRCm39) |
Y840H |
probably damaging |
Het |
Kif1a |
T |
C |
1: 92,983,743 (GRCm39) |
E653G |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,517,639 (GRCm39) |
V1829A |
possibly damaging |
Het |
Myh8 |
C |
T |
11: 67,187,957 (GRCm39) |
Q910* |
probably null |
Het |
Or12d12 |
T |
C |
17: 37,610,423 (GRCm39) |
R297G |
probably benign |
Het |
Or14a257 |
A |
T |
7: 86,138,425 (GRCm39) |
F111L |
probably benign |
Het |
Or14j4 |
G |
T |
17: 37,921,333 (GRCm39) |
T103K |
possibly damaging |
Het |
Or2ag17 |
A |
T |
7: 106,389,758 (GRCm39) |
I150N |
possibly damaging |
Het |
Prdm4 |
A |
G |
10: 85,735,145 (GRCm39) |
S666P |
probably damaging |
Het |
Rad50 |
T |
C |
11: 53,585,788 (GRCm39) |
K331E |
possibly damaging |
Het |
Rbbp6 |
A |
G |
7: 122,599,336 (GRCm39) |
|
probably benign |
Het |
Skint6 |
A |
G |
4: 112,755,296 (GRCm39) |
|
probably null |
Het |
Stac3 |
T |
C |
10: 127,343,128 (GRCm39) |
S208P |
probably benign |
Het |
Tfap2a |
T |
C |
13: 40,874,867 (GRCm39) |
|
probably null |
Het |
Trhde |
T |
C |
10: 114,248,383 (GRCm39) |
K939E |
possibly damaging |
Het |
Vmn1r22 |
T |
C |
6: 57,877,826 (GRCm39) |
I50M |
probably benign |
Het |
Vmn1r39 |
C |
T |
6: 66,781,428 (GRCm39) |
V260I |
probably benign |
Het |
Zdhhc25 |
T |
C |
15: 88,484,926 (GRCm39) |
L87P |
probably damaging |
Het |
Zfp202 |
T |
C |
9: 40,122,318 (GRCm39) |
L360P |
probably benign |
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 |
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 |
R3033:Selenbp1
|
UTSW |
3 |
94,845,351 (GRCm39) |
missense |
probably benign |
0.22 |
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'- GCTGAACTGAAACCCTGTCTATGCC -3'
(R):5'- CAGCCCATGCTTGAAACTTGCTTG -3'
Sequencing Primer
(F):5'- CCCTGTCTATGCCTAGTCAAAAATG -3'
(R):5'- AGTTCAGGAGCCCTCTGAAG -3'
|
Posted On |
2014-01-05 |