Incidental Mutation 'IGL03063:Serpinb10'
| ID |
409562 |
| 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 # |
IGL03063
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
107456757-107477001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107469957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 146
(K146N)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000182198
AA Change: K146N
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138771
Gene: ENSMUSG00000092572
AA Change: K146N
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
320 |
6.18e-139 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191955
AA Change: K146N
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141402
Gene: ENSMUSG00000102843
AA Change: K146N
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
320 |
6.18e-139 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194951
AA Change: K223N
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141672
Gene: ENSMUSG00000092572
AA Change: K223N
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
C |
T |
7: 45,665,856 (GRCm39) |
V255I |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,701,702 (GRCm39) |
|
probably benign |
Het |
| Bpifb2 |
A |
T |
2: 153,731,044 (GRCm39) |
Q205L |
probably damaging |
Het |
| Ccdc30 |
C |
T |
4: 119,206,964 (GRCm39) |
R386Q |
possibly damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,273,114 (GRCm39) |
|
probably null |
Het |
| Comtd1 |
A |
G |
14: 21,897,735 (GRCm39) |
|
probably null |
Het |
| Dao |
T |
C |
5: 114,159,076 (GRCm39) |
C261R |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,563,059 (GRCm39) |
V187A |
possibly damaging |
Het |
| Dsg3 |
T |
C |
18: 20,666,425 (GRCm39) |
|
probably benign |
Het |
| Eif3j2 |
A |
G |
18: 43,610,444 (GRCm39) |
L123P |
possibly damaging |
Het |
| Esf1 |
G |
A |
2: 139,996,706 (GRCm39) |
|
probably benign |
Het |
| Exo5 |
G |
A |
4: 120,778,830 (GRCm39) |
T345I |
possibly damaging |
Het |
| Fancl |
A |
T |
11: 26,337,299 (GRCm39) |
I29F |
probably damaging |
Het |
| Gadl1 |
C |
T |
9: 115,795,335 (GRCm39) |
H313Y |
probably damaging |
Het |
| Gm17190 |
G |
A |
13: 96,219,270 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,245,675 (GRCm39) |
T1580N |
possibly damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,155 (GRCm39) |
I66L |
probably benign |
Het |
| Hhla1 |
A |
G |
15: 65,813,639 (GRCm39) |
I231T |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,716,630 (GRCm39) |
Y273H |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,726,213 (GRCm39) |
I83T |
probably benign |
Het |
| Ifit1 |
T |
C |
19: 34,625,404 (GRCm39) |
V180A |
possibly damaging |
Het |
| Igkv9-129 |
A |
T |
6: 67,817,172 (GRCm39) |
D92V |
probably damaging |
Het |
| Lrrc1 |
A |
G |
9: 77,406,551 (GRCm39) |
F36S |
probably damaging |
Het |
| Man1b1 |
A |
G |
2: 25,224,416 (GRCm39) |
E102G |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,179,031 (GRCm39) |
S475G |
probably benign |
Het |
| Or52s1 |
T |
A |
7: 102,861,841 (GRCm39) |
V247D |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,390,419 (GRCm39) |
M343K |
probably benign |
Het |
| Peg10 |
A |
T |
6: 4,756,647 (GRCm39) |
|
probably benign |
Het |
| Plet1 |
T |
A |
9: 50,415,722 (GRCm39) |
N197K |
probably benign |
Het |
| Ppp1r12a |
C |
T |
10: 108,097,115 (GRCm39) |
R243C |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,835,630 (GRCm39) |
F911L |
probably benign |
Het |
| Spon1 |
G |
A |
7: 113,632,260 (GRCm39) |
V528M |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,010,733 (GRCm39) |
V1100A |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,283,468 (GRCm39) |
M696V |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,875,084 (GRCm39) |
E122G |
probably damaging |
Het |
| Wt1 |
G |
A |
2: 105,000,368 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation