Incidental Mutation 'R5525:Serpinb8'
| ID |
431796 |
| 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 |
043083-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5525 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
107517668-107536708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107535023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 365
(I365F)
|
| 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: I365F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000000514
Gene: ENSMUSG00000026315
AA Change: I365F
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112706
AA Change: I365F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108326
Gene: ENSMUSG00000026315
AA Change: I365F
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,749,731 (GRCm39) |
T1501A |
probably benign |
Het |
| Acin1 |
G |
A |
14: 54,901,848 (GRCm39) |
A648V |
possibly damaging |
Het |
| Agap1 |
A |
G |
1: 89,671,495 (GRCm39) |
T401A |
possibly damaging |
Het |
| Anapc4 |
T |
G |
5: 53,014,151 (GRCm39) |
M440R |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,504,692 (GRCm39) |
M739T |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,001,273 (GRCm39) |
E721G |
possibly damaging |
Het |
| Bzw1 |
A |
G |
1: 58,442,065 (GRCm39) |
E221G |
possibly damaging |
Het |
| Cenpm |
A |
C |
15: 82,123,492 (GRCm39) |
|
probably null |
Het |
| Exosc1 |
T |
A |
19: 41,912,457 (GRCm39) |
K143N |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 92,043,228 (GRCm39) |
L1236Q |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Grm3 |
C |
T |
5: 9,554,872 (GRCm39) |
V807I |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,504,026 (GRCm39) |
N1110S |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,769,354 (GRCm39) |
V17D |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,767,961 (GRCm39) |
M5298R |
possibly damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,083,926 (GRCm39) |
E551V |
probably damaging |
Het |
| Oacyl |
A |
C |
18: 65,878,427 (GRCm39) |
I457L |
probably benign |
Het |
| Or12d13 |
C |
T |
17: 37,647,517 (GRCm39) |
G202D |
probably damaging |
Het |
| Or5p69 |
A |
G |
7: 107,967,206 (GRCm39) |
I170V |
probably benign |
Het |
| Or5t17 |
A |
T |
2: 86,832,683 (GRCm39) |
E123D |
possibly damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,210,269 (GRCm39) |
E996G |
probably damaging |
Het |
| Rabep1 |
T |
A |
11: 70,813,972 (GRCm39) |
S554T |
probably damaging |
Het |
| Rln1 |
T |
C |
19: 29,311,920 (GRCm39) |
E26G |
probably benign |
Het |
| Rpf1 |
A |
G |
3: 146,223,559 (GRCm39) |
|
silent |
Het |
| Sdk1 |
T |
C |
5: 142,171,020 (GRCm39) |
V1961A |
possibly damaging |
Het |
| Shank2 |
A |
G |
7: 143,623,846 (GRCm39) |
D277G |
probably damaging |
Het |
| Snapc4 |
ACTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGC |
2: 26,259,538 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,332,006 (GRCm39) |
T1269A |
possibly damaging |
Het |
| Ttll3 |
A |
G |
6: 113,389,939 (GRCm39) |
N776D |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,645,773 (GRCm39) |
E1483G |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,485,803 (GRCm39) |
D2971G |
probably benign |
Het |
| Zfp322a |
A |
G |
13: 23,541,685 (GRCm39) |
V19A |
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,050,281 (GRCm39) |
P2164T |
possibly 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 |
|
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'- AAACAAGGGCTGACTTCTCTGG -3'
(R):5'- AATGTGTGACCTACCTAGCCTG -3'
Sequencing Primer
(F):5'- CTAAGAAGAATGTGCCCGTGTCC -3'
(R):5'- TGCACCTCCCAAATGCTTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation