Incidental Mutation 'IGL02222:Selenbp2'
| ID |
285184 |
| 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: 0.346)
|
| Stock # |
IGL02222
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94600880-94611713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94607269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 168
(V168E)
|
| 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 |
probably damaging
Transcript: ENSMUST00000090848
AA Change: V230E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000088358
Gene: ENSMUSG00000068877
AA Change: V230E
| 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 |
probably damaging
Transcript: ENSMUST00000173849
AA Change: V168E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134270
Gene: ENSMUSG00000068877
AA Change: V168E
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,322,045 (GRCm39) |
R1682W |
probably benign |
Het |
| Angptl6 |
A |
T |
9: 20,785,203 (GRCm39) |
M450K |
probably damaging |
Het |
| Armc12 |
C |
A |
17: 28,757,694 (GRCm39) |
N275K |
probably damaging |
Het |
| Cd27 |
T |
C |
6: 125,211,495 (GRCm39) |
H144R |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,386,641 (GRCm39) |
K1880E |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,414,094 (GRCm39) |
I907N |
probably damaging |
Het |
| Dpy19l4 |
A |
C |
4: 11,281,116 (GRCm39) |
F443C |
possibly damaging |
Het |
| Eif3i |
C |
T |
4: 129,485,881 (GRCm39) |
D315N |
possibly damaging |
Het |
| Fam217a |
A |
G |
13: 35,095,102 (GRCm39) |
L128P |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,078 (GRCm39) |
L62F |
probably damaging |
Het |
| Fmn1 |
A |
T |
2: 113,423,454 (GRCm39) |
I1047F |
probably damaging |
Het |
| G2e3 |
A |
G |
12: 51,410,016 (GRCm39) |
H267R |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,338,585 (GRCm39) |
|
probably null |
Het |
| Gm10650 |
T |
C |
3: 127,833,789 (GRCm39) |
|
noncoding transcript |
Het |
| Grip1 |
C |
T |
10: 119,835,714 (GRCm39) |
T470I |
probably damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,682,152 (GRCm39) |
D466A |
probably benign |
Het |
| Lrrc63 |
T |
C |
14: 75,323,580 (GRCm39) |
Y548C |
probably damaging |
Het |
| Naaa |
T |
C |
5: 92,407,409 (GRCm39) |
|
probably benign |
Het |
| Parpbp |
T |
A |
10: 87,975,947 (GRCm39) |
E55D |
possibly damaging |
Het |
| Pnpt1 |
A |
T |
11: 29,109,327 (GRCm39) |
D691V |
possibly damaging |
Het |
| Pnpt1 |
G |
A |
11: 29,080,842 (GRCm39) |
A29T |
probably benign |
Het |
| Pramel11 |
A |
G |
4: 143,622,416 (GRCm39) |
M313T |
possibly damaging |
Het |
| Psg25 |
T |
C |
7: 18,263,652 (GRCm39) |
N57S |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 75,999,617 (GRCm39) |
E2337K |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,087,755 (GRCm39) |
T1269A |
probably benign |
Het |
| Tent5b |
T |
C |
4: 133,213,864 (GRCm39) |
V245A |
probably damaging |
Het |
| Tnfrsf13c |
C |
A |
15: 82,107,364 (GRCm39) |
V144L |
probably damaging |
Het |
| Uspl1 |
G |
T |
5: 149,130,854 (GRCm39) |
V132L |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,449 (GRCm39) |
Y398F |
possibly damaging |
Het |
| Vps13a |
T |
A |
19: 16,659,539 (GRCm39) |
T1663S |
probably benign |
Het |
| Ythdc1 |
G |
A |
5: 86,975,902 (GRCm39) |
R503H |
possibly damaging |
Het |
|
| Other mutations in Selenbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01875:Selenbp2
|
APN |
3 |
94,605,451 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02007:Selenbp2
|
APN |
3 |
94,605,461 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02103:Selenbp2
|
APN |
3 |
94,605,438 (GRCm39) |
missense |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation