Incidental Mutation 'R1087:Serpinb8'
| ID |
85054 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1087 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
107517668-107536708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107534727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 266
(V266A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000514]
[ENSMUST00000112706]
[ENSMUST00000123086]
|
| AlphaFold |
O08800 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000514
AA Change: V266A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000000514
Gene: ENSMUSG00000026315
AA Change: V266A
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112706
AA Change: V266A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108326
Gene: ENSMUSG00000026315
AA Change: V266A
| 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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa11 |
A |
G |
14: 25,870,603 (GRCm39) |
M56V |
unknown |
Het |
| Arid4a |
G |
A |
12: 71,122,112 (GRCm39) |
S509N |
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,356,017 (GRCm39) |
R1232G |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,193,259 (GRCm39) |
M643L |
probably benign |
Het |
| Bsph1 |
A |
G |
7: 13,206,106 (GRCm39) |
Y57C |
probably damaging |
Het |
| Car13 |
G |
A |
3: 14,706,885 (GRCm39) |
W6* |
probably null |
Het |
| Ccdc192 |
T |
C |
18: 57,863,870 (GRCm39) |
S225P |
probably damaging |
Het |
| Ccng2 |
T |
C |
5: 93,421,303 (GRCm39) |
I271T |
probably benign |
Het |
| Ces1f |
T |
A |
8: 93,984,923 (GRCm39) |
D468V |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,117,881 (GRCm39) |
Y130H |
probably benign |
Het |
| Clns1a |
T |
A |
7: 97,354,862 (GRCm39) |
H69Q |
possibly damaging |
Het |
| Cnot11 |
T |
A |
1: 39,579,139 (GRCm39) |
S335T |
probably benign |
Het |
| Dcaf11 |
A |
G |
14: 55,806,581 (GRCm39) |
S461G |
probably damaging |
Het |
| Dlst |
G |
A |
12: 85,179,413 (GRCm39) |
M417I |
probably damaging |
Het |
| Dock4 |
A |
C |
12: 40,779,937 (GRCm39) |
I612L |
probably benign |
Het |
| Endod1 |
A |
G |
9: 14,268,489 (GRCm39) |
V332A |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,314,639 (GRCm39) |
T213A |
possibly damaging |
Het |
| Gm5773 |
A |
T |
3: 93,681,065 (GRCm39) |
I246F |
probably damaging |
Het |
| Gml2 |
T |
A |
15: 74,695,946 (GRCm39) |
D113E |
possibly damaging |
Het |
| Grik1 |
T |
C |
16: 87,803,265 (GRCm39) |
E309G |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,823,355 (GRCm39) |
I1013K |
probably damaging |
Het |
| Kcmf1 |
T |
C |
6: 72,835,863 (GRCm39) |
E22G |
probably damaging |
Het |
| Kdm5b |
T |
A |
1: 134,528,375 (GRCm39) |
C361S |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,090,561 (GRCm39) |
S1150P |
probably damaging |
Het |
| Man2b1 |
G |
A |
8: 85,821,800 (GRCm39) |
V701M |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,281,488 (GRCm39) |
R266G |
probably damaging |
Het |
| Milr1 |
A |
G |
11: 106,645,848 (GRCm39) |
Y130C |
probably damaging |
Het |
| Nampt |
A |
G |
12: 32,883,042 (GRCm39) |
T76A |
possibly damaging |
Het |
| Nek10 |
A |
G |
14: 14,827,059 (GRCm38) |
N86D |
possibly damaging |
Het |
| Nms |
T |
G |
1: 38,983,192 (GRCm39) |
|
probably null |
Het |
| Or10w1 |
T |
A |
19: 13,632,376 (GRCm39) |
C194* |
probably null |
Het |
| Parp14 |
A |
G |
16: 35,678,658 (GRCm39) |
S437P |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,496,377 (GRCm39) |
M226V |
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,592,204 (GRCm39) |
R216G |
probably benign |
Het |
| Rorb |
T |
C |
19: 18,937,778 (GRCm39) |
K307R |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,430,882 (GRCm39) |
D439G |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,927,633 (GRCm39) |
E226G |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,618 (GRCm39) |
D212G |
possibly damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,673 (GRCm39) |
V186D |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,186,803 (GRCm39) |
C895S |
probably damaging |
Het |
| Zswim8 |
C |
A |
14: 20,767,933 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
R3114:Serpinb8
|
UTSW |
1 |
107,535,023 (GRCm39) |
missense |
probably benign |
0.09 |
|
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'- AATGAGAGCTGTCACGGCCAAC -3'
(R):5'- GCCTTCCTCATTGACCTCCACAAAG -3'
Sequencing Primer
(F):5'- GTGTCACTAGATGAGAGCACTCC -3'
(R):5'- CACAAAGCACTTGTGGGC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation