Incidental Mutation 'IGL01970:Selenbp1'
ID |
182530 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01970
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
94840394-94852069 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94844313 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 57
(S57G)
|
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: S57G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000088349 Gene: ENSMUSG00000068874 AA Change: S57G
Domain | Start | End | E-Value | Type |
Pfam:SBP56
|
6 |
472 |
3.2e-225 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134202
AA Change: S57G
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000120159 Gene: ENSMUSG00000068874 AA Change: S57G
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: S57G
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000118563 Gene: ENSMUSG00000068874 AA Change: S57G
Domain | Start | End | E-Value | Type |
Pfam:SBP56
|
6 |
123 |
4.7e-56 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145551
|
Coding Region Coverage |
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdk9 |
T |
C |
2: 32,598,063 (GRCm39) |
H280R |
possibly damaging |
Het |
Cenpt |
C |
T |
8: 106,571,748 (GRCm39) |
R461H |
probably damaging |
Het |
Cpa4 |
A |
G |
6: 30,579,645 (GRCm39) |
T151A |
probably benign |
Het |
Glrb |
A |
G |
3: 80,769,232 (GRCm39) |
I165T |
possibly damaging |
Het |
Gm17305 |
A |
T |
11: 69,255,646 (GRCm39) |
|
probably benign |
Het |
Kdm5b |
T |
A |
1: 134,528,465 (GRCm39) |
S391T |
probably damaging |
Het |
Klrg2 |
T |
C |
6: 38,613,383 (GRCm39) |
K207E |
probably damaging |
Het |
Krt1 |
T |
C |
15: 101,755,299 (GRCm39) |
I487V |
possibly damaging |
Het |
Krt27 |
A |
G |
11: 99,239,547 (GRCm39) |
L311P |
probably damaging |
Het |
Leng9 |
T |
C |
7: 4,151,326 (GRCm39) |
Y450C |
probably damaging |
Het |
Oacyl |
A |
T |
18: 65,882,785 (GRCm39) |
I627F |
possibly damaging |
Het |
Perm1 |
G |
T |
4: 156,302,118 (GRCm39) |
G221W |
probably damaging |
Het |
Rft1 |
C |
T |
14: 30,412,492 (GRCm39) |
L518F |
probably benign |
Het |
Sdk1 |
A |
T |
5: 142,071,437 (GRCm39) |
Q1209L |
possibly damaging |
Het |
Sema5a |
T |
C |
15: 32,686,792 (GRCm39) |
M968T |
probably benign |
Het |
Slc16a3 |
G |
A |
11: 120,847,864 (GRCm39) |
V351M |
probably damaging |
Het |
Sorbs2 |
G |
A |
8: 46,198,840 (GRCm39) |
V73I |
probably damaging |
Het |
Specc1l |
T |
A |
10: 75,081,595 (GRCm39) |
D347E |
probably damaging |
Het |
Tas2r116 |
A |
C |
6: 132,832,632 (GRCm39) |
T78P |
probably benign |
Het |
Tpm3 |
A |
G |
3: 89,997,135 (GRCm39) |
E224G |
probably damaging |
Het |
Trnau1ap |
T |
C |
4: 132,041,298 (GRCm39) |
|
probably benign |
Het |
Vmn2r17 |
T |
A |
5: 109,575,813 (GRCm39) |
M228K |
probably damaging |
Het |
Vnn1 |
T |
C |
10: 23,773,300 (GRCm39) |
I109T |
probably benign |
Het |
Wee1 |
C |
A |
7: 109,738,457 (GRCm39) |
H523Q |
probably damaging |
Het |
Xpr1 |
T |
C |
1: 155,165,980 (GRCm39) |
N524S |
probably benign |
Het |
|
Other mutations in Selenbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2014-05-07 |