Incidental Mutation 'R0256:Selenbp2'
| ID |
34732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Selenbp2
|
| Ensembl Gene |
ENSMUSG00000068877 |
| Gene Name |
selenium binding protein 2 |
| Synonyms |
acetaminophen-binding protein, Lpsb2, AP56 |
| MMRRC Submission |
038487-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.370)
|
| Stock # |
R0256 (G1)
|
| Quality Score |
170 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94600880-94611713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94607008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 156
(H156L)
|
| 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 benign
Transcript: ENSMUST00000090848
AA Change: H218L
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000088358
Gene: ENSMUSG00000068877
AA Change: H218L
| 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 benign
Transcript: ENSMUST00000173849
AA Change: H156L
PolyPhen 2
Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000134270
Gene: ENSMUSG00000068877
AA Change: H156L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.6%
- 10x: 95.8%
- 20x: 92.8%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
T |
10: 29,098,252 (GRCm39) |
L186F |
probably damaging |
Het |
| Abce1 |
A |
C |
8: 80,412,572 (GRCm39) |
|
probably null |
Het |
| Acvrl1 |
A |
T |
15: 101,035,002 (GRCm39) |
N254Y |
probably damaging |
Het |
| Apip |
T |
A |
2: 102,918,916 (GRCm39) |
M72K |
possibly damaging |
Het |
| Arg1 |
A |
G |
10: 24,792,356 (GRCm39) |
Y188H |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,274,027 (GRCm39) |
N354Y |
probably damaging |
Het |
| Arrdc5 |
A |
G |
17: 56,601,382 (GRCm39) |
F248L |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,302,576 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
G |
T |
3: 36,971,922 (GRCm39) |
V552L |
probably benign |
Het |
| Ccdc154 |
C |
T |
17: 25,389,606 (GRCm39) |
A490V |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,053,868 (GRCm39) |
|
probably benign |
Het |
| Chmp2b |
G |
T |
16: 65,337,078 (GRCm39) |
T193K |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,436,640 (GRCm39) |
N814K |
probably damaging |
Het |
| Cmtr1 |
T |
C |
17: 29,916,098 (GRCm39) |
L576P |
probably damaging |
Het |
| Fhl5 |
T |
C |
4: 25,213,624 (GRCm39) |
H104R |
probably benign |
Het |
| Foxk1 |
A |
G |
5: 142,439,436 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
T |
A |
11: 99,683,542 (GRCm39) |
T193S |
unknown |
Het |
| Gm15217 |
A |
T |
14: 46,617,853 (GRCm39) |
|
probably benign |
Het |
| Hic2 |
A |
G |
16: 17,075,377 (GRCm39) |
I69V |
probably benign |
Het |
| Ivl |
T |
C |
3: 92,479,150 (GRCm39) |
D305G |
probably damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,725,472 (GRCm39) |
T323A |
probably damaging |
Het |
| Krt7 |
C |
T |
15: 101,321,190 (GRCm39) |
Q336* |
probably null |
Het |
| Krt73 |
T |
G |
15: 101,710,371 (GRCm39) |
D121A |
probably damaging |
Het |
| Mok |
T |
C |
12: 110,774,539 (GRCm39) |
D216G |
probably damaging |
Het |
| Muc17 |
A |
G |
5: 137,175,539 (GRCm39) |
C44R |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,395,132 (GRCm39) |
Y46C |
unknown |
Het |
| Muc5b |
T |
C |
7: 141,396,995 (GRCm39) |
F223L |
unknown |
Het |
| Noct |
A |
G |
3: 51,157,895 (GRCm39) |
D411G |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5j1 |
T |
C |
2: 86,879,400 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,906 (GRCm39) |
D173V |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,393,062 (GRCm39) |
H36R |
probably damaging |
Het |
| Plscr3 |
A |
G |
11: 69,740,880 (GRCm39) |
K239E |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,780,330 (GRCm39) |
D445G |
probably benign |
Het |
| Ramp1 |
A |
T |
1: 91,124,641 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
T |
A |
4: 100,266,942 (GRCm39) |
H214Q |
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,721,314 (GRCm39) |
T284A |
probably benign |
Het |
| Slc35a1 |
T |
C |
4: 34,668,962 (GRCm39) |
T284A |
probably benign |
Het |
| Smco2 |
A |
T |
6: 146,763,244 (GRCm39) |
I184F |
probably damaging |
Het |
| Son |
A |
G |
16: 91,453,472 (GRCm39) |
M740V |
possibly damaging |
Het |
| Stil |
T |
A |
4: 114,880,882 (GRCm39) |
N475K |
possibly damaging |
Het |
| Sval3 |
A |
G |
6: 41,949,839 (GRCm39) |
D122G |
probably damaging |
Het |
| Tnks |
A |
G |
8: 35,328,701 (GRCm39) |
M623T |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,617,317 (GRCm39) |
V235A |
probably benign |
Het |
| Zfp423 |
A |
T |
8: 88,500,262 (GRCm39) |
C1053* |
probably null |
Het |
| Zfp648 |
T |
A |
1: 154,081,414 (GRCm39) |
D524E |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGAGATGGCCCACCACTTCTAC -3'
(R):5'- AAACGGATCTCCAGGGGTATCAGC -3'
Sequencing Primer
(F):5'- CCCTGCTCAGGGAGTTTTG -3'
(R):5'- CAGGGTCTGGATAATCTCATGGC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation