Incidental Mutation 'IGL00901:Serpinb10'
| ID |
26599 |
| 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 # |
IGL00901
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
107456757-107477001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107468726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 123
(K123R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182198]
[ENSMUST00000194951]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173703
AA Change: K123R
|
| SMART Domains |
Protein: ENSMUSP00000134188
Gene: ENSMUSG00000092572
AA Change: K123R
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
320 |
6.18e-139 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182198
AA Change: K123R
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000138771
Gene: ENSMUSG00000092572
AA Change: K123R
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
320 |
6.18e-139 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191955
AA Change: K123R
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000141402
Gene: ENSMUSG00000102843
AA Change: K123R
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
320 |
6.18e-139 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194951
AA Change: K200R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141672
Gene: ENSMUSG00000092572
AA Change: K200R
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot6 |
A |
G |
12: 84,153,250 (GRCm39) |
Y164C |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,489,171 (GRCm39) |
S334P |
probably benign |
Het |
| Arhgef1 |
A |
G |
7: 24,612,118 (GRCm39) |
E129G |
probably damaging |
Het |
| Bmt2 |
G |
T |
6: 13,628,748 (GRCm39) |
H312N |
probably damaging |
Het |
| Brme1 |
A |
G |
8: 84,893,400 (GRCm39) |
D189G |
probably damaging |
Het |
| Ces2g |
A |
G |
8: 105,691,761 (GRCm39) |
Y272C |
probably benign |
Het |
| Cfap69 |
T |
A |
5: 5,669,162 (GRCm39) |
|
probably benign |
Het |
| Cftr |
T |
C |
6: 18,268,429 (GRCm39) |
|
probably null |
Het |
| Clec2g |
A |
G |
6: 128,925,655 (GRCm39) |
|
probably benign |
Het |
| Cyp2b9 |
A |
T |
7: 25,897,930 (GRCm39) |
I245F |
probably damaging |
Het |
| Fbxo6 |
T |
A |
4: 148,230,600 (GRCm39) |
I221F |
probably damaging |
Het |
| Fbxw21 |
A |
C |
9: 108,985,467 (GRCm39) |
C104G |
probably benign |
Het |
| Flna |
A |
G |
X: 73,273,534 (GRCm39) |
S101P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ift88 |
T |
A |
14: 57,681,902 (GRCm39) |
F229I |
probably damaging |
Het |
| Map2k3 |
T |
C |
11: 60,832,747 (GRCm39) |
S31P |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,154,815 (GRCm39) |
D176G |
probably damaging |
Het |
| Or12d2 |
T |
G |
17: 37,624,598 (GRCm39) |
K226Q |
possibly damaging |
Het |
| Or12e10 |
A |
G |
2: 87,640,992 (GRCm39) |
Y276C |
probably damaging |
Het |
| Or14j6 |
T |
A |
17: 38,215,148 (GRCm39) |
V237D |
probably damaging |
Het |
| Pde7b |
C |
T |
10: 20,494,875 (GRCm39) |
|
probably null |
Het |
| Polr3b |
T |
C |
10: 84,467,660 (GRCm39) |
I80T |
possibly damaging |
Het |
| Prpf4b |
T |
A |
13: 35,078,465 (GRCm39) |
Y692N |
probably damaging |
Het |
| Rabl2 |
T |
C |
15: 89,474,473 (GRCm39) |
|
probably benign |
Het |
| Rasgrp1 |
T |
C |
2: 117,115,611 (GRCm39) |
K659R |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,716,934 (GRCm39) |
S774T |
probably damaging |
Het |
| Sema5b |
C |
T |
16: 35,471,685 (GRCm39) |
T426M |
probably damaging |
Het |
| Slc33a1 |
T |
C |
3: 63,871,433 (GRCm39) |
D60G |
probably benign |
Het |
| Tnks |
A |
T |
8: 35,305,549 (GRCm39) |
Y92* |
probably null |
Het |
| Tvp23b |
T |
A |
11: 62,774,606 (GRCm39) |
|
probably benign |
Het |
| Wnk1 |
T |
A |
6: 119,937,669 (GRCm39) |
Q1218L |
probably damaging |
Het |
|
| Other mutations in Serpinb10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00767:Serpinb10
|
APN |
1 |
107,463,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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