Incidental Mutation 'R3719:Selenbp2'
| ID |
258810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Selenbp2
|
| Ensembl Gene |
ENSMUSG00000068877 |
| Gene Name |
selenium binding protein 2 |
| Synonyms |
acetaminophen-binding protein, Lpsb2, AP56 |
| MMRRC Submission |
042001-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.346)
|
| Stock # |
R3719 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94600880-94611713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94606924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 190
(F190S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088358
(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: F190S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088358
Gene: ENSMUSG00000068877
AA Change: F190S
| 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: F128S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134270
Gene: ENSMUSG00000068877
AA Change: F128S
| 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
|
| Meta Mutation Damage Score |
0.8967 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
A |
15: 94,259,719 (GRCm39) |
R327C |
probably damaging |
Het |
| Atxn2l |
G |
A |
7: 126,097,302 (GRCm39) |
R335W |
probably damaging |
Het |
| Blk |
A |
G |
14: 63,621,451 (GRCm39) |
S93P |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,711,343 (GRCm39) |
D75G |
probably damaging |
Het |
| Chpf2 |
C |
T |
5: 24,795,310 (GRCm39) |
Q278* |
probably null |
Het |
| Cypt14-ps |
C |
T |
X: 38,952,128 (GRCm39) |
G52E |
probably damaging |
Het |
| Defb18 |
A |
G |
1: 18,306,813 (GRCm39) |
S48P |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,006,882 (GRCm39) |
|
probably benign |
Het |
| Ero1b |
T |
G |
13: 12,598,493 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
C |
5: 115,717,876 (GRCm39) |
S254P |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Kdm3b |
C |
T |
18: 34,941,724 (GRCm39) |
A405V |
probably damaging |
Het |
| Mcm7 |
G |
A |
5: 138,164,976 (GRCm39) |
Q550* |
probably null |
Het |
| Or9m1 |
G |
A |
2: 87,733,447 (GRCm39) |
T191I |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 58,286,374 (GRCm39) |
E1150G |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,279,288 (GRCm39) |
Y756C |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,571,175 (GRCm39) |
T187A |
probably benign |
Het |
| Rbms3 |
C |
T |
9: 116,411,930 (GRCm39) |
V421I |
probably benign |
Het |
| Sema6a |
G |
A |
18: 47,382,144 (GRCm39) |
T801M |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Spen |
G |
T |
4: 141,244,494 (GRCm39) |
H180Q |
unknown |
Het |
| Tenm4 |
A |
G |
7: 96,512,770 (GRCm39) |
K1339R |
possibly damaging |
Het |
| Trim30a |
C |
A |
7: 104,060,370 (GRCm39) |
D469Y |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,964,354 (GRCm39) |
R1283H |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,749,757 (GRCm39) |
R29* |
probably null |
Het |
| Ttc17 |
A |
G |
2: 94,194,672 (GRCm39) |
V567A |
probably benign |
Het |
| Vmn2r101 |
A |
G |
17: 19,809,811 (GRCm39) |
Y199C |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,519,582 (GRCm39) |
Y459N |
probably damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,245 (GRCm39) |
I215V |
probably benign |
Het |
| Wdr48 |
C |
T |
9: 119,736,197 (GRCm39) |
S162F |
probably 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTACAGAGTAAGGGCCTCC -3'
(R):5'- GCAAGACAAGTGCAGATCTG -3'
Sequencing Primer
(F):5'- GACTCCTGCCATCTCTAAAATGGATG -3'
(R):5'- ATCTGCTGTAGGGTAGAGAGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation