Incidental Mutation 'R6665:Serpinb10'
| ID |
526923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb10
|
| Ensembl Gene |
ENSMUSG00000092572 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 10 |
| Synonyms |
|
| MMRRC Submission |
044785-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6665 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
107456757-107477001 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 107474597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 253
(N253T)
|
| 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: N253T
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138771
Gene: ENSMUSG00000092572
AA Change: N253T
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
320 |
6.18e-139 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194951
AA Change: N330T
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141672
Gene: ENSMUSG00000092572
AA Change: N330T
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
396 |
1.31e-183 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
A |
G |
9: 30,815,775 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
T |
G |
13: 70,927,689 (GRCm39) |
K517Q |
probably damaging |
Het |
| Atp9b |
A |
C |
18: 80,960,950 (GRCm39) |
V87G |
probably benign |
Het |
| Avil |
A |
G |
10: 126,856,394 (GRCm39) |
K808E |
probably damaging |
Het |
| Bin2 |
T |
C |
15: 100,554,676 (GRCm39) |
E49G |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,508,092 (GRCm39) |
Y652C |
probably damaging |
Het |
| Cd6 |
T |
C |
19: 10,768,367 (GRCm39) |
N541D |
probably benign |
Het |
| Col28a1 |
A |
G |
6: 8,062,277 (GRCm39) |
V671A |
probably benign |
Het |
| Dock6 |
C |
T |
9: 21,751,208 (GRCm39) |
C355Y |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,183,205 (GRCm39) |
F71S |
probably damaging |
Het |
| Dusp8 |
G |
A |
7: 141,643,842 (GRCm39) |
P24S |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,107,098 (GRCm39) |
Y1151C |
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,823,078 (GRCm39) |
L659Q |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,562,077 (GRCm39) |
Y810C |
probably damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Hexb |
T |
C |
13: 97,315,893 (GRCm39) |
N380D |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,751,592 (GRCm39) |
E1498G |
possibly damaging |
Het |
| Lrif1 |
T |
A |
3: 106,642,659 (GRCm39) |
|
probably null |
Het |
| Myo9a |
G |
T |
9: 59,779,155 (GRCm39) |
G1637V |
probably benign |
Het |
| Myod1 |
A |
T |
7: 46,026,281 (GRCm39) |
H62L |
probably damaging |
Het |
| Myoz3 |
A |
C |
18: 60,709,495 (GRCm39) |
L222R |
probably damaging |
Het |
| Naca |
T |
A |
10: 127,884,227 (GRCm39) |
N2180K |
probably damaging |
Het |
| Or6c76 |
T |
C |
10: 129,612,116 (GRCm39) |
F111S |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,955,702 (GRCm39) |
V405A |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,603,914 (GRCm39) |
|
probably null |
Het |
| Rab32 |
T |
C |
10: 10,433,846 (GRCm39) |
|
probably benign |
Het |
| Slc13a5 |
C |
T |
11: 72,151,186 (GRCm39) |
V131I |
probably damaging |
Het |
| Slc25a40 |
A |
G |
5: 8,502,788 (GRCm39) |
N290S |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,703,020 (GRCm39) |
V131A |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,600,604 (GRCm39) |
|
probably null |
Het |
| Stxbp2 |
A |
G |
8: 3,691,998 (GRCm39) |
M547V |
probably benign |
Het |
| Tmem247 |
A |
T |
17: 87,225,998 (GRCm39) |
Q146L |
probably benign |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,900 (GRCm39) |
I702V |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,355,636 (GRCm39) |
S436P |
probably benign |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGGAGAGAGCCATTACC -3'
(R):5'- GGGGAGCAGAATCTTCCAC -3'
Sequencing Primer
(F):5'- CTGGAGAGAGCCATTACCTATGAG -3'
(R):5'- TTCAATGGAAGGTGCCT -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation