Incidental Mutation 'R6661:Selenbp2'
| ID |
526835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Selenbp2
|
| Ensembl Gene |
ENSMUSG00000068877 |
| Gene Name |
selenium binding protein 2 |
| Synonyms |
acetaminophen-binding protein, Lpsb2, AP56 |
| MMRRC Submission |
044781-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.346)
|
| Stock # |
R6661 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94600880-94611713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94609821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 257
(D257G)
|
| 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: D319G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088358
Gene: ENSMUSG00000068877
AA Change: D319G
| 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: D257G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134270
Gene: ENSMUSG00000068877
AA Change: D257G
| 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 |
0.9569 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.8%
|
| Validation Efficiency |
93% (38/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amy2a1 |
T |
C |
3: 113,325,363 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ankrd9 |
C |
A |
12: 110,944,202 (GRCm39) |
|
probably benign |
Het |
| Arhgap28 |
C |
A |
17: 68,152,746 (GRCm39) |
W675L |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 64,900,834 (GRCm39) |
S595P |
probably damaging |
Het |
| Brd10 |
A |
T |
19: 29,700,864 (GRCm39) |
H741Q |
possibly damaging |
Het |
| Cacna1d |
C |
A |
14: 29,811,832 (GRCm39) |
D1273Y |
probably damaging |
Het |
| Ccr4 |
T |
C |
9: 114,325,031 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,803,135 (GRCm39) |
V2468A |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,140,230 (GRCm39) |
E666G |
possibly damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,439,986 (GRCm39) |
V775L |
probably damaging |
Het |
| Cux2 |
C |
A |
5: 122,007,360 (GRCm39) |
R767L |
probably benign |
Het |
| Decr2 |
A |
G |
17: 26,302,561 (GRCm39) |
L217S |
possibly damaging |
Het |
| Dennd4c |
T |
A |
4: 86,717,626 (GRCm39) |
M541K |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,662,609 (GRCm39) |
R651G |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,525,963 (GRCm39) |
F80I |
probably damaging |
Het |
| Fmnl2 |
C |
A |
2: 52,998,297 (GRCm39) |
P554Q |
probably damaging |
Het |
| Gapvd1 |
C |
T |
2: 34,618,450 (GRCm39) |
D308N |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,559,726 (GRCm39) |
|
probably null |
Het |
| Jcad |
G |
A |
18: 4,675,256 (GRCm39) |
G1006D |
probably damaging |
Het |
| Krt1c |
A |
G |
15: 101,724,398 (GRCm39) |
Y289H |
probably damaging |
Het |
| Lrrc52 |
A |
G |
1: 167,293,922 (GRCm39) |
F121S |
probably damaging |
Het |
| Lrrc63 |
G |
A |
14: 75,362,633 (GRCm39) |
T299I |
unknown |
Het |
| Magi1 |
T |
C |
6: 93,920,289 (GRCm39) |
N109S |
probably benign |
Het |
| Mbd4 |
C |
A |
6: 115,826,116 (GRCm39) |
E271* |
probably null |
Het |
| Meis2 |
T |
A |
2: 115,694,751 (GRCm39) |
D457V |
probably damaging |
Het |
| Mroh8 |
A |
G |
2: 157,067,547 (GRCm39) |
V604A |
probably benign |
Het |
| Nedd4 |
T |
A |
9: 72,593,377 (GRCm39) |
V150E |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,884,243 (GRCm39) |
E790G |
probably damaging |
Het |
| Or8h8 |
T |
C |
2: 86,753,492 (GRCm39) |
N128S |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,967,993 (GRCm39) |
I834V |
possibly damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,933,367 (GRCm39) |
C666R |
possibly damaging |
Het |
| Prg2 |
T |
C |
2: 84,813,620 (GRCm39) |
|
probably null |
Het |
| Slf1 |
T |
C |
13: 77,191,964 (GRCm39) |
R957G |
probably damaging |
Het |
| Smim10l1 |
T |
A |
6: 133,082,513 (GRCm39) |
M46K |
possibly damaging |
Het |
| Sptbn5 |
T |
C |
2: 119,902,856 (GRCm39) |
Y50C |
possibly damaging |
Het |
| Tcea1 |
A |
G |
1: 4,928,652 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,385,842 (GRCm39) |
E234G |
probably damaging |
Het |
| Tmbim4 |
T |
C |
10: 120,060,556 (GRCm39) |
V181A |
probably benign |
Het |
| Trappc9 |
A |
G |
15: 72,461,993 (GRCm39) |
S1091P |
possibly damaging |
Het |
| Txnrd3 |
T |
A |
6: 89,631,134 (GRCm39) |
C143* |
probably null |
Het |
| Ushbp1 |
C |
T |
8: 71,843,305 (GRCm39) |
C314Y |
unknown |
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 |
|
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 |
|
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'- TGGTCAGTGGAGAAGGTGATCC -3'
(R):5'- TCTTGTCAGACACAGTCCCTG -3'
Sequencing Primer
(F):5'- AGAAGGTGATCCAAGTGCCCTC -3'
(R):5'- ACAGTCCCTGTGTTCAGTCATGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation