Incidental Mutation 'R3114:Serpinb8'
| ID |
263921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb8
|
| Ensembl Gene |
ENSMUSG00000026315 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 8 |
| Synonyms |
ovalbumin, CAP-2, Spi8, CAP2, NK10 |
| MMRRC Submission |
040587-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R3114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
107517668-107536708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107535023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 365
(I365V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000514]
[ENSMUST00000112706]
[ENSMUST00000123086]
|
| AlphaFold |
O08800 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000514
AA Change: I365V
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000000514
Gene: ENSMUSG00000026315
AA Change: I365V
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112706
AA Change: I365V
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000108326
Gene: ENSMUSG00000026315
AA Change: I365V
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123086
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151283
|
| Meta Mutation Damage Score |
0.2438 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7 |
C |
T |
15: 102,442,858 (GRCm39) |
S417N |
probably benign |
Het |
| Cdt1 |
C |
T |
8: 123,297,221 (GRCm39) |
Q305* |
probably null |
Het |
| Cfap65 |
T |
A |
1: 74,966,291 (GRCm39) |
K345N |
probably damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Col11a2 |
T |
G |
17: 34,265,442 (GRCm39) |
V276G |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 31,052,542 (GRCm39) |
S4346G |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,345,772 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
A |
15: 102,231,639 (GRCm39) |
F1945Y |
possibly damaging |
Het |
| Fzd5 |
A |
G |
1: 64,774,739 (GRCm39) |
F341L |
probably benign |
Het |
| Gm1587 |
T |
G |
14: 78,036,272 (GRCm39) |
E11D |
unknown |
Het |
| H3c3 |
C |
A |
13: 23,929,290 (GRCm39) |
R64L |
probably benign |
Het |
| Ighv5-1 |
A |
G |
12: 113,537,844 (GRCm39) |
|
probably benign |
Het |
| Klhl3 |
A |
G |
13: 58,198,841 (GRCm39) |
|
probably null |
Het |
| Klhl33 |
A |
T |
14: 51,128,972 (GRCm39) |
D752E |
possibly damaging |
Het |
| Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
| Marchf1 |
A |
C |
8: 66,840,033 (GRCm39) |
H272P |
probably benign |
Het |
| Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
| Mei1 |
C |
T |
15: 82,009,160 (GRCm39) |
A835V |
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
| Mlxipl |
A |
G |
5: 135,162,516 (GRCm39) |
|
probably benign |
Het |
| Mob3a |
A |
T |
10: 80,527,136 (GRCm39) |
V63E |
probably damaging |
Het |
| Nos3 |
C |
T |
5: 24,577,629 (GRCm39) |
|
probably benign |
Het |
| Or4a2 |
T |
A |
2: 89,248,757 (GRCm39) |
|
probably null |
Het |
| Pcdha11 |
T |
A |
18: 37,144,860 (GRCm39) |
I317K |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,086,603 (GRCm39) |
V262A |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,084,792 (GRCm39) |
M519K |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,776,328 (GRCm39) |
S89P |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,695,459 (GRCm39) |
C309S |
probably benign |
Het |
| Rint1 |
A |
G |
5: 24,024,418 (GRCm39) |
N682S |
probably benign |
Het |
| Rnmt |
A |
G |
18: 68,447,079 (GRCm39) |
E321G |
probably benign |
Het |
| Sik1 |
T |
C |
17: 32,067,106 (GRCm39) |
T505A |
probably benign |
Het |
| Slfn10-ps |
T |
A |
11: 82,919,955 (GRCm39) |
|
noncoding transcript |
Het |
| Spmip8 |
T |
C |
8: 96,039,809 (GRCm39) |
|
probably null |
Het |
| Sspn |
A |
T |
6: 145,880,095 (GRCm39) |
I66F |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,654,777 (GRCm39) |
S337P |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,811,860 (GRCm39) |
S1715P |
probably damaging |
Het |
|
| Other mutations in Serpinb8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Serpinb8
|
APN |
1 |
107,534,714 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01309:Serpinb8
|
APN |
1 |
107,532,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03210:Serpinb8
|
APN |
1 |
107,530,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hachi
|
UTSW |
1 |
107,525,201 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
BB002:Serpinb8
|
UTSW |
1 |
107,526,715 (GRCm39) |
missense |
probably benign |
0.25 |
|
BB012:Serpinb8
|
UTSW |
1 |
107,526,715 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02835:Serpinb8
|
UTSW |
1 |
107,530,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0284:Serpinb8
|
UTSW |
1 |
107,530,648 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1087:Serpinb8
|
UTSW |
1 |
107,534,727 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1728:Serpinb8
|
UTSW |
1 |
107,534,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1728:Serpinb8
|
UTSW |
1 |
107,525,257 (GRCm39) |
missense |
probably benign |
|
|
R1728:Serpinb8
|
UTSW |
1 |
107,526,684 (GRCm39) |
missense |
probably benign |
|
|
R1729:Serpinb8
|
UTSW |
1 |
107,534,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1729:Serpinb8
|
UTSW |
1 |
107,525,257 (GRCm39) |
missense |
probably benign |
|
|
R1729:Serpinb8
|
UTSW |
1 |
107,526,684 (GRCm39) |
missense |
probably benign |
|
|
R1730:Serpinb8
|
UTSW |
1 |
107,534,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1730:Serpinb8
|
UTSW |
1 |
107,525,257 (GRCm39) |
missense |
probably benign |
|
|
R1730:Serpinb8
|
UTSW |
1 |
107,526,684 (GRCm39) |
missense |
probably benign |
|
|
R1739:Serpinb8
|
UTSW |
1 |
107,534,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1739:Serpinb8
|
UTSW |
1 |
107,525,257 (GRCm39) |
missense |
probably benign |
|
|
R1739:Serpinb8
|
UTSW |
1 |
107,526,684 (GRCm39) |
missense |
probably benign |
|
|
R1762:Serpinb8
|
UTSW |
1 |
107,534,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1762:Serpinb8
|
UTSW |
1 |
107,525,257 (GRCm39) |
missense |
probably benign |
|
|
R1762:Serpinb8
|
UTSW |
1 |
107,526,684 (GRCm39) |
missense |
probably benign |
|
|
R1783:Serpinb8
|
UTSW |
1 |
107,534,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1783:Serpinb8
|
UTSW |
1 |
107,525,257 (GRCm39) |
missense |
probably benign |
|
|
R1783:Serpinb8
|
UTSW |
1 |
107,526,684 (GRCm39) |
missense |
probably benign |
|
|
R1785:Serpinb8
|
UTSW |
1 |
107,525,257 (GRCm39) |
missense |
probably benign |
|
|
R1785:Serpinb8
|
UTSW |
1 |
107,526,684 (GRCm39) |
missense |
probably benign |
|
|
R1785:Serpinb8
|
UTSW |
1 |
107,534,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2120:Serpinb8
|
UTSW |
1 |
107,533,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Serpinb8
|
UTSW |
1 |
107,533,657 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2148:Serpinb8
|
UTSW |
1 |
107,533,657 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2391:Serpinb8
|
UTSW |
1 |
107,534,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Serpinb8
|
UTSW |
1 |
107,534,776 (GRCm39) |
missense |
unknown |
|
|
R2898:Serpinb8
|
UTSW |
1 |
107,534,776 (GRCm39) |
missense |
unknown |
|
|
R3697:Serpinb8
|
UTSW |
1 |
107,534,876 (GRCm39) |
nonsense |
probably null |
|
|
R4783:Serpinb8
|
UTSW |
1 |
107,532,472 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5225:Serpinb8
|
UTSW |
1 |
107,525,201 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5412:Serpinb8
|
UTSW |
1 |
107,533,616 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5525:Serpinb8
|
UTSW |
1 |
107,535,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5554:Serpinb8
|
UTSW |
1 |
107,526,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5891:Serpinb8
|
UTSW |
1 |
107,533,575 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6594:Serpinb8
|
UTSW |
1 |
107,525,201 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6681:Serpinb8
|
UTSW |
1 |
107,525,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7127:Serpinb8
|
UTSW |
1 |
107,525,200 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7151:Serpinb8
|
UTSW |
1 |
107,533,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Serpinb8
|
UTSW |
1 |
107,535,053 (GRCm39) |
makesense |
probably null |
|
|
R7716:Serpinb8
|
UTSW |
1 |
107,532,438 (GRCm39) |
nonsense |
probably null |
|
|
R7807:Serpinb8
|
UTSW |
1 |
107,532,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7822:Serpinb8
|
UTSW |
1 |
107,534,723 (GRCm39) |
nonsense |
probably null |
|
|
R7925:Serpinb8
|
UTSW |
1 |
107,526,715 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8210:Serpinb8
|
UTSW |
1 |
107,526,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9046:Serpinb8
|
UTSW |
1 |
107,530,563 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9303:Serpinb8
|
UTSW |
1 |
107,526,769 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9305:Serpinb8
|
UTSW |
1 |
107,526,769 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9459:Serpinb8
|
UTSW |
1 |
107,533,520 (GRCm39) |
nonsense |
probably null |
|
|
X0018:Serpinb8
|
UTSW |
1 |
107,525,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGGGCTGACTTCTCTGG -3'
(R):5'- GAATGTGTGACCTACCTAGCCTG -3'
Sequencing Primer
(F):5'- CTAAGAAGAATGTGCCCGTGTCC -3'
(R):5'- TGCACCTCCCAAATGCTTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation