Incidental Mutation 'R4363:Selenbp1'
ID |
470053 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Selenbp1
|
Ensembl Gene |
ENSMUSG00000068874 |
Gene Name |
selenium binding protein 1 |
Synonyms |
Lp56, Lpsb |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4363 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94840394-94852069 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to G
at 94850060 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088349
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090839]
[ENSMUST00000134202]
[ENSMUST00000140757]
|
AlphaFold |
P17563 |
Predicted Effect |
probably null
Transcript: ENSMUST00000090839
|
SMART Domains |
Protein: ENSMUSP00000088349 Gene: ENSMUSG00000068874
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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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 |
Abcc2 |
G |
T |
19: 43,787,575 (GRCm39) |
W207L |
possibly damaging |
Het |
Adamts13 |
G |
A |
2: 26,894,794 (GRCm39) |
C1034Y |
probably damaging |
Het |
Adgrb3 |
A |
T |
1: 25,151,303 (GRCm39) |
V1081E |
probably damaging |
Het |
Apcdd1 |
T |
A |
18: 63,085,003 (GRCm39) |
I400N |
possibly damaging |
Het |
Bcan |
G |
T |
3: 87,904,405 (GRCm39) |
T117K |
probably damaging |
Het |
Bicc1 |
ATGTG |
ATG |
10: 70,779,204 (GRCm39) |
|
probably null |
Het |
Cmtr1 |
T |
C |
17: 29,893,206 (GRCm39) |
L75P |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,300,229 (GRCm39) |
S3179T |
unknown |
Het |
Cplx2 |
A |
T |
13: 54,526,630 (GRCm39) |
T13S |
probably benign |
Het |
Drd3 |
A |
T |
16: 43,582,722 (GRCm39) |
I72F |
probably damaging |
Het |
Dsn1 |
A |
T |
2: 156,841,062 (GRCm39) |
I214K |
probably benign |
Het |
Ermp1 |
A |
T |
19: 29,590,276 (GRCm39) |
W809R |
probably damaging |
Het |
Fbn2 |
G |
A |
18: 58,282,122 (GRCm39) |
S298L |
probably damaging |
Het |
Fbxo33 |
T |
C |
12: 59,251,648 (GRCm39) |
H289R |
probably damaging |
Het |
Fcgbpl1 |
T |
C |
7: 27,846,331 (GRCm39) |
S1008P |
probably damaging |
Het |
Gli2 |
T |
C |
1: 118,781,100 (GRCm39) |
N189S |
probably benign |
Het |
Hus1 |
G |
T |
11: 8,948,676 (GRCm39) |
L242I |
probably damaging |
Het |
Hyou1 |
G |
A |
9: 44,291,912 (GRCm39) |
|
probably null |
Het |
Kirrel1 |
C |
A |
3: 86,997,792 (GRCm39) |
E244* |
probably null |
Het |
Mmrn2 |
C |
T |
14: 34,119,934 (GRCm39) |
A268V |
probably damaging |
Het |
Mycbp2 |
G |
T |
14: 103,485,893 (GRCm39) |
A1023E |
probably damaging |
Het |
Nedd9 |
A |
T |
13: 41,471,429 (GRCm39) |
I184N |
probably damaging |
Het |
Nmnat1 |
T |
C |
4: 149,557,902 (GRCm39) |
I47V |
probably benign |
Het |
Or1j11 |
A |
T |
2: 36,311,544 (GRCm39) |
I45F |
probably damaging |
Het |
Or51f5 |
T |
C |
7: 102,424,463 (GRCm39) |
V244A |
probably benign |
Het |
Otulinl |
C |
T |
15: 27,664,429 (GRCm39) |
|
probably null |
Het |
Pak1 |
T |
C |
7: 97,532,793 (GRCm39) |
S198P |
possibly damaging |
Het |
Pank1 |
A |
C |
19: 34,804,532 (GRCm39) |
V208G |
probably damaging |
Het |
Pcdhga12 |
C |
G |
18: 37,899,214 (GRCm39) |
F15L |
probably benign |
Het |
Recql4 |
T |
C |
15: 76,590,244 (GRCm39) |
D723G |
probably benign |
Het |
Rgs22 |
A |
T |
15: 36,104,020 (GRCm39) |
I147N |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,475,665 (GRCm39) |
Y4927C |
probably damaging |
Het |
Syk |
A |
T |
13: 52,794,766 (GRCm39) |
H477L |
probably damaging |
Het |
Tnfrsf11b |
T |
A |
15: 54,119,555 (GRCm39) |
T140S |
possibly damaging |
Het |
Vmn2r-ps69 |
T |
C |
7: 84,959,700 (GRCm39) |
|
noncoding transcript |
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 |
R3033:Selenbp1
|
UTSW |
3 |
94,845,351 (GRCm39) |
missense |
probably benign |
0.22 |
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'- TTGATTCCTGGCCTGGGAAG -3'
(R):5'- GAGTTGTTGGCCTTATTAGAATCTC -3'
Sequencing Primer
(F):5'- CCTGGGAAGAGAGATAGACTCCTTAC -3'
(R):5'- GAAATTCCAGGCTGGTCTCGAAC -3'
|
Posted On |
2017-03-06 |