Incidental Mutation 'IGL00767:Serpinb10'
| ID |
26573 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb10
|
| Ensembl Gene |
ENSMUSG00000092572 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 10 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00767
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
107456757-107477001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 107463807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 30
(V30F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146597]
[ENSMUST00000182198]
[ENSMUST00000194951]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143832
|
| SMART Domains |
Protein: ENSMUSP00000114751
Gene: ENSMUSG00000062345
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
189 |
2.36e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146597
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172762
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173703
AA Change: V30F
PolyPhen 2
Score 0.800 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134188
Gene: ENSMUSG00000092572
AA Change: V30F
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
320 |
6.18e-139 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182198
AA Change: V30F
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138771
Gene: ENSMUSG00000092572
AA Change: V30F
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
320 |
6.18e-139 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191955
AA Change: V30F
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141402
Gene: ENSMUSG00000102843
AA Change: V30F
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
320 |
6.18e-139 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194951
AA Change: V107F
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000141672
Gene: ENSMUSG00000092572
AA Change: V107F
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
396 |
1.31e-183 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anpep |
A |
C |
7: 79,490,638 (GRCm39) |
S293A |
probably benign |
Het |
| Dgkh |
T |
A |
14: 78,824,701 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,215,353 (GRCm39) |
T657S |
probably damaging |
Het |
| Hpf1 |
A |
G |
8: 61,349,836 (GRCm39) |
I155V |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,280,546 (GRCm39) |
I554V |
possibly damaging |
Het |
| Mindy2 |
A |
G |
9: 70,541,285 (GRCm39) |
|
probably null |
Het |
| Nostrin |
A |
G |
2: 69,006,119 (GRCm39) |
T268A |
probably benign |
Het |
| Npy6r |
A |
G |
18: 44,409,385 (GRCm39) |
T269A |
probably benign |
Het |
| Nt5dc3 |
T |
A |
10: 86,656,137 (GRCm39) |
|
probably benign |
Het |
| Osgin2 |
G |
A |
4: 16,006,377 (GRCm39) |
H106Y |
probably damaging |
Het |
| Pdlim3 |
G |
A |
8: 46,349,827 (GRCm39) |
G46R |
probably damaging |
Het |
| Pdpk1 |
T |
G |
17: 24,325,835 (GRCm39) |
K147N |
possibly damaging |
Het |
| Pfkfb3 |
T |
C |
2: 11,493,565 (GRCm39) |
D137G |
probably damaging |
Het |
| Polg |
G |
A |
7: 79,101,673 (GRCm39) |
P1048S |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,880,432 (GRCm39) |
I97K |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,236,248 (GRCm39) |
|
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,803,182 (GRCm39) |
|
probably benign |
Het |
| Tll1 |
G |
A |
8: 64,524,355 (GRCm39) |
R444C |
probably damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,576,226 (GRCm39) |
V848A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,716,017 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Serpinb10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00901:Serpinb10
|
APN |
1 |
107,468,726 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01287:Serpinb10
|
APN |
1 |
107,468,612 (GRCm39) |
critical splice acceptor site |
probably benign |
0.00 |
|
IGL02496:Serpinb10
|
APN |
1 |
107,466,155 (GRCm39) |
splice site |
probably null |
|
|
IGL03063:Serpinb10
|
APN |
1 |
107,469,957 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
PIT4445001:Serpinb10
|
UTSW |
1 |
107,463,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0106:Serpinb10
|
UTSW |
1 |
107,474,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0581:Serpinb10
|
UTSW |
1 |
107,474,692 (GRCm39) |
nonsense |
probably null |
|
|
R1538:Serpinb10
|
UTSW |
1 |
107,468,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Serpinb10
|
UTSW |
1 |
107,466,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1729:Serpinb10
|
UTSW |
1 |
107,466,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1730:Serpinb10
|
UTSW |
1 |
107,466,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1739:Serpinb10
|
UTSW |
1 |
107,466,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1762:Serpinb10
|
UTSW |
1 |
107,466,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1783:Serpinb10
|
UTSW |
1 |
107,466,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1785:Serpinb10
|
UTSW |
1 |
107,466,203 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3836:Serpinb10
|
UTSW |
1 |
107,463,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3949:Serpinb10
|
UTSW |
1 |
107,468,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3972:Serpinb10
|
UTSW |
1 |
107,463,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4237:Serpinb10
|
UTSW |
1 |
107,466,179 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4585:Serpinb10
|
UTSW |
1 |
107,474,779 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4883:Serpinb10
|
UTSW |
1 |
107,468,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5061:Serpinb10
|
UTSW |
1 |
107,468,701 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5085:Serpinb10
|
UTSW |
1 |
107,469,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Serpinb10
|
UTSW |
1 |
107,463,187 (GRCm39) |
splice site |
probably null |
|
|
R6665:Serpinb10
|
UTSW |
1 |
107,474,597 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6783:Serpinb10
|
UTSW |
1 |
107,474,597 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7311:Serpinb10
|
UTSW |
1 |
107,474,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Serpinb10
|
UTSW |
1 |
107,468,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7379:Serpinb10
|
UTSW |
1 |
107,460,117 (GRCm39) |
intron |
probably benign |
|
|
R7455:Serpinb10
|
UTSW |
1 |
107,463,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7642:Serpinb10
|
UTSW |
1 |
107,456,831 (GRCm39) |
splice site |
probably null |
|
|
R7782:Serpinb10
|
UTSW |
1 |
107,463,196 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R8300:Serpinb10
|
UTSW |
1 |
107,474,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8695:Serpinb10
|
UTSW |
1 |
107,468,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8745:Serpinb10
|
UTSW |
1 |
107,474,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9069:Serpinb10
|
UTSW |
1 |
107,474,549 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9373:Serpinb10
|
UTSW |
1 |
107,474,749 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9423:Serpinb10
|
UTSW |
1 |
107,466,179 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9645:Serpinb10
|
UTSW |
1 |
107,474,488 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2013-04-17 |
Incidental Mutation