Incidental Mutation 'R9303:Serpinb8'
| ID |
705041 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R9303 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
107517668-107536708 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 107526769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000514]
[ENSMUST00000112706]
|
| AlphaFold |
O08800 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000514
|
| SMART Domains |
Protein: ENSMUSP00000000514
Gene: ENSMUSG00000026315
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112706
|
| SMART Domains |
Protein: ENSMUSP00000108326
Gene: ENSMUSG00000026315
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (57/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,126,989 (GRCm39) |
I1227V |
probably benign |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
T |
C |
7: 66,489,645 (GRCm39) |
L21P |
probably damaging |
Het |
| Adcy1 |
T |
C |
11: 7,094,766 (GRCm39) |
V564A |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,748,275 (GRCm39) |
N492D |
probably benign |
Het |
| Aldh1b1 |
G |
A |
4: 45,803,811 (GRCm39) |
V450M |
probably damaging |
Het |
| Arv1 |
T |
A |
8: 125,457,685 (GRCm39) |
H196Q |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,517,163 (GRCm39) |
I390N |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,098,969 (GRCm39) |
I1277V |
|
Het |
| Capn10 |
T |
C |
1: 92,871,665 (GRCm39) |
|
probably null |
Het |
| Casq2 |
A |
G |
3: 102,052,700 (GRCm39) |
D404G |
unknown |
Het |
| Cenpf |
T |
C |
1: 189,392,271 (GRCm39) |
|
probably null |
Het |
| Cep295nl |
G |
A |
11: 118,224,766 (GRCm39) |
P26L |
possibly damaging |
Het |
| Chmp4c |
T |
G |
3: 10,454,974 (GRCm39) |
S214A |
probably benign |
Het |
| Chrna5 |
T |
C |
9: 54,912,156 (GRCm39) |
F319L |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 16,011,532 (GRCm39) |
T2507K |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,967,037 (GRCm39) |
M996T |
probably damaging |
Het |
| Dbf4 |
T |
C |
5: 8,448,102 (GRCm39) |
T328A |
unknown |
Het |
| Ddc |
C |
T |
11: 11,779,132 (GRCm39) |
V331I |
probably benign |
Het |
| Fads2b |
A |
T |
2: 85,330,649 (GRCm39) |
C219* |
probably null |
Het |
| Fat1 |
T |
A |
8: 45,463,498 (GRCm39) |
W1347R |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,986,727 (GRCm39) |
F51L |
probably benign |
Het |
| Gng2 |
G |
T |
14: 19,925,961 (GRCm39) |
H44N |
probably damaging |
Het |
| Hps5 |
G |
A |
7: 46,438,619 (GRCm39) |
T38I |
possibly damaging |
Het |
| Igf2 |
G |
A |
7: 142,208,153 (GRCm39) |
R64C |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 82,759,758 (GRCm39) |
A601V |
probably damaging |
Het |
| Kdm2a |
A |
G |
19: 4,395,606 (GRCm39) |
Y342H |
probably benign |
Het |
| Kidins220 |
C |
A |
12: 25,107,110 (GRCm39) |
T1430K |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,898,829 (GRCm39) |
C177R |
possibly damaging |
Het |
| Krt32 |
T |
C |
11: 99,972,029 (GRCm39) |
T440A |
probably benign |
Het |
| Kynu |
T |
A |
2: 43,569,768 (GRCm39) |
F350Y |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,973,137 (GRCm39) |
L1568P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,618,574 (GRCm39) |
S281T |
|
Het |
| Or2y3 |
A |
T |
17: 38,393,629 (GRCm39) |
V80D |
probably damaging |
Het |
| Or5h23 |
A |
G |
16: 58,906,802 (GRCm39) |
S15P |
probably benign |
Het |
| Or8c19-ps1 |
C |
T |
9: 38,220,463 (GRCm39) |
T124M |
probably benign |
Het |
| Orc3 |
G |
A |
4: 34,607,181 (GRCm39) |
R50* |
probably null |
Het |
| Osbpl6 |
T |
A |
2: 76,378,716 (GRCm39) |
D124E |
probably damaging |
Het |
| Parp4 |
TG |
T |
14: 56,832,790 (GRCm39) |
|
probably null |
Het |
| Parp4 |
T |
C |
14: 56,852,224 (GRCm39) |
|
probably null |
Het |
| Pcdhb18 |
A |
C |
18: 37,625,004 (GRCm39) |
H778P |
probably benign |
Het |
| Polg |
A |
T |
7: 79,105,860 (GRCm39) |
Y710N |
probably benign |
Het |
| Ppp2r2b |
C |
A |
18: 42,779,025 (GRCm39) |
R370L |
possibly damaging |
Het |
| Raet1e |
C |
T |
10: 22,057,872 (GRCm39) |
T213I |
possibly damaging |
Het |
| Reln |
T |
A |
5: 22,193,705 (GRCm39) |
S1418C |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,285,689 (GRCm39) |
S427G |
probably benign |
Het |
| Rhobtb2 |
G |
A |
14: 70,025,376 (GRCm39) |
H633Y |
probably damaging |
Het |
| Serpina3i |
T |
C |
12: 104,234,881 (GRCm39) |
V404A |
probably damaging |
Het |
| Sorl1 |
G |
T |
9: 41,900,739 (GRCm39) |
Q1658K |
probably damaging |
Het |
| Tmem26 |
G |
A |
10: 68,559,816 (GRCm39) |
W29* |
probably null |
Het |
| Togaram2 |
A |
G |
17: 71,996,408 (GRCm39) |
E137G |
probably damaging |
Het |
| Ttc39b |
A |
G |
4: 83,151,023 (GRCm39) |
L524S |
probably damaging |
Het |
| Usp43 |
T |
C |
11: 67,767,345 (GRCm39) |
N675S |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,268,439 (GRCm39) |
L10P |
possibly damaging |
Het |
| Zbtb1 |
G |
A |
12: 76,432,773 (GRCm39) |
R253Q |
probably damaging |
Het |
| Zfp354b |
T |
A |
11: 50,820,256 (GRCm39) |
R36S |
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 |
|
|
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 |
|
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'- TCCCTTAGCTGTGCTTGTGTGTA -3'
(R):5'- AGCCTGCTCTTCCCAAACTT -3'
Sequencing Primer
(F):5'- CTTGTGTGTAGGAGGGGAGAAAAC -3'
(R):5'- CTTGAACATGGTGGACACGACTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation