Incidental Mutation 'IGL01875:Selenbp2'
ID |
178856 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Selenbp2
|
Ensembl Gene |
ENSMUSG00000068877 |
Gene Name |
selenium binding protein 2 |
Synonyms |
acetaminophen-binding protein, Lpsb2, AP56 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.370)
|
Stock # |
IGL01875
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
94600880-94611713 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 94605451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 92
(D92E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134270
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090848]
[ENSMUST00000131650]
[ENSMUST00000173849]
[ENSMUST00000173981]
[ENSMUST00000174223]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090848
AA Change: D154E
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000088358 Gene: ENSMUSG00000068877 AA Change: D154E
Domain | Start | End | E-Value | Type |
Pfam:SBP56
|
6 |
472 |
7.8e-227 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131650
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132162
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173849
AA Change: D92E
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000134270 Gene: ENSMUSG00000068877 AA Change: D92E
Domain | Start | End | E-Value | Type |
Pfam:SBP56
|
6 |
62 |
4.4e-22 |
PFAM |
Pfam:SBP56
|
57 |
410 |
4.1e-165 |
PFAM |
Pfam:Lactonase
|
163 |
296 |
4.6e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173981
|
SMART Domains |
Protein: ENSMUSP00000133320 Gene: ENSMUSG00000068877
Domain | Start | End | E-Value | Type |
Pfam:SBP56
|
1 |
128 |
3.9e-61 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174223
|
SMART Domains |
Protein: ENSMUSP00000134623 Gene: ENSMUSG00000068877
Domain | Start | End | E-Value | Type |
Pfam:SBP56
|
6 |
134 |
3.1e-56 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174377
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam11 |
A |
G |
11: 102,663,682 (GRCm39) |
T287A |
probably damaging |
Het |
Afm |
G |
T |
5: 90,696,742 (GRCm39) |
|
probably benign |
Het |
Ankrd24 |
A |
G |
10: 81,465,571 (GRCm39) |
|
probably benign |
Het |
Ankrd53 |
G |
T |
6: 83,740,031 (GRCm39) |
E62* |
probably null |
Het |
Atg4b |
A |
G |
1: 93,706,032 (GRCm39) |
S162G |
probably damaging |
Het |
B530045E10Rik |
A |
T |
10: 99,258,177 (GRCm39) |
|
noncoding transcript |
Het |
Ccng1 |
A |
G |
11: 40,643,183 (GRCm39) |
V88A |
probably benign |
Het |
Ces1e |
T |
A |
8: 93,950,524 (GRCm39) |
M86L |
probably benign |
Het |
Chrne |
A |
T |
11: 70,509,498 (GRCm39) |
|
probably null |
Het |
Ctsh |
T |
C |
9: 89,946,260 (GRCm39) |
S109P |
probably damaging |
Het |
Eif4g1 |
A |
C |
16: 20,499,790 (GRCm39) |
I420L |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
Fgfr1 |
A |
G |
8: 26,063,569 (GRCm39) |
M732V |
possibly damaging |
Het |
Gata5 |
T |
G |
2: 179,969,138 (GRCm39) |
|
probably benign |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm3633 |
A |
T |
14: 42,461,234 (GRCm39) |
M18K |
probably damaging |
Het |
Gucy1b2 |
A |
G |
14: 62,657,595 (GRCm39) |
L211P |
probably damaging |
Het |
Hemgn |
T |
C |
4: 46,396,994 (GRCm39) |
N81D |
possibly damaging |
Het |
Irs2 |
A |
T |
8: 11,056,221 (GRCm39) |
M737K |
probably damaging |
Het |
Itgb7 |
C |
A |
15: 102,126,430 (GRCm39) |
C502F |
probably damaging |
Het |
Jakmip1 |
G |
T |
5: 37,278,324 (GRCm39) |
A534S |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,107,728 (GRCm39) |
H1636R |
probably benign |
Het |
Kirrel1 |
T |
A |
3: 87,003,037 (GRCm39) |
I119F |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,217,354 (GRCm39) |
V527A |
probably damaging |
Het |
Mitf |
A |
G |
6: 97,994,856 (GRCm39) |
E409G |
probably benign |
Het |
Mtrr |
T |
G |
13: 68,720,728 (GRCm39) |
K289T |
probably damaging |
Het |
Muc2 |
A |
T |
7: 141,306,477 (GRCm39) |
I739F |
probably damaging |
Het |
Ncor2 |
T |
C |
5: 125,142,934 (GRCm39) |
T612A |
unknown |
Het |
Or12e7 |
T |
A |
2: 87,287,654 (GRCm39) |
N48K |
probably damaging |
Het |
Or1x2 |
A |
T |
11: 50,918,202 (GRCm39) |
R124S |
probably damaging |
Het |
Or6c213 |
T |
A |
10: 129,574,791 (GRCm39) |
|
probably benign |
Het |
Or8b42 |
T |
A |
9: 38,341,594 (GRCm39) |
N5K |
probably damaging |
Het |
P4ha3 |
T |
A |
7: 99,949,859 (GRCm39) |
C109S |
probably damaging |
Het |
Prkd3 |
T |
C |
17: 79,264,635 (GRCm39) |
E660G |
possibly damaging |
Het |
Rbm4b |
G |
A |
19: 4,812,219 (GRCm39) |
M209I |
probably benign |
Het |
Reln |
T |
A |
5: 22,109,715 (GRCm39) |
T3132S |
probably benign |
Het |
Slfn8 |
G |
T |
11: 82,894,905 (GRCm39) |
Q634K |
probably benign |
Het |
Sumo3 |
A |
T |
10: 77,449,832 (GRCm39) |
I57F |
probably benign |
Het |
Tacr1 |
A |
G |
6: 82,533,997 (GRCm39) |
Y341C |
probably benign |
Het |
Tlr4 |
T |
A |
4: 66,757,726 (GRCm39) |
L173Q |
probably damaging |
Het |
Tshz3 |
C |
T |
7: 36,469,385 (GRCm39) |
T458M |
probably damaging |
Het |
Vmn1r91 |
T |
A |
7: 19,835,859 (GRCm39) |
C259* |
probably null |
Het |
Vmn2r16 |
T |
C |
5: 109,478,277 (GRCm39) |
F11L |
probably benign |
Het |
Vmn2r28 |
T |
A |
7: 5,484,302 (GRCm39) |
M633L |
probably benign |
Het |
Vmn2r35 |
T |
C |
7: 7,819,772 (GRCm39) |
|
probably benign |
Het |
Vwc2l |
G |
T |
1: 70,768,172 (GRCm39) |
A79S |
probably benign |
Het |
Zfhx2 |
G |
A |
14: 55,301,372 (GRCm39) |
S2204F |
unknown |
Het |
|
Other mutations in Selenbp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02007:Selenbp2
|
APN |
3 |
94,605,461 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02103:Selenbp2
|
APN |
3 |
94,605,438 (GRCm39) |
missense |
probably null |
|
IGL02222:Selenbp2
|
APN |
3 |
94,607,269 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02441:Selenbp2
|
APN |
3 |
94,611,371 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03086:Selenbp2
|
APN |
3 |
94,606,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R0068:Selenbp2
|
UTSW |
3 |
94,610,816 (GRCm39) |
missense |
probably benign |
0.00 |
R0256:Selenbp2
|
UTSW |
3 |
94,607,008 (GRCm39) |
missense |
probably benign |
0.35 |
R0725:Selenbp2
|
UTSW |
3 |
94,604,809 (GRCm39) |
splice site |
probably benign |
|
R0879:Selenbp2
|
UTSW |
3 |
94,606,863 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1636:Selenbp2
|
UTSW |
3 |
94,604,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R3719:Selenbp2
|
UTSW |
3 |
94,606,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R4828:Selenbp2
|
UTSW |
3 |
94,611,426 (GRCm39) |
missense |
probably benign |
0.27 |
R4962:Selenbp2
|
UTSW |
3 |
94,610,856 (GRCm39) |
missense |
probably damaging |
0.99 |
R6661:Selenbp2
|
UTSW |
3 |
94,609,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R7201:Selenbp2
|
UTSW |
3 |
94,609,664 (GRCm39) |
missense |
probably benign |
0.03 |
R7221:Selenbp2
|
UTSW |
3 |
94,611,133 (GRCm39) |
nonsense |
probably null |
|
R7413:Selenbp2
|
UTSW |
3 |
94,607,404 (GRCm39) |
missense |
probably benign |
0.03 |
R8932:Selenbp2
|
UTSW |
3 |
94,609,793 (GRCm39) |
missense |
probably damaging |
0.98 |
R8968:Selenbp2
|
UTSW |
3 |
94,607,337 (GRCm39) |
missense |
probably benign |
0.43 |
R9015:Selenbp2
|
UTSW |
3 |
94,607,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R9380:Selenbp2
|
UTSW |
3 |
94,609,654 (GRCm39) |
missense |
probably benign |
0.01 |
R9516:Selenbp2
|
UTSW |
3 |
94,607,352 (GRCm39) |
missense |
probably benign |
|
R9544:Selenbp2
|
UTSW |
3 |
94,605,368 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9588:Selenbp2
|
UTSW |
3 |
94,605,368 (GRCm39) |
missense |
possibly damaging |
0.78 |
X0050:Selenbp2
|
UTSW |
3 |
94,611,435 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Selenbp2
|
UTSW |
3 |
94,605,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |