Incidental Mutation 'R2391:Serpinb8'
| ID |
247750 |
| 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 |
040359-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R2391 (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 107534799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 290
(D290G)
|
| 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: D290G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000514
Gene: ENSMUSG00000026315
AA Change: D290G
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112706
AA Change: D290G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108326
Gene: ENSMUSG00000026315
AA Change: D290G
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000123086
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151283
|
| Meta Mutation Damage Score |
0.8760 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (36/36) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
T |
A |
7: 115,703,461 (GRCm39) |
D24E |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,952,071 (GRCm39) |
H689R |
probably benign |
Het |
| Acss3 |
T |
G |
10: 106,959,348 (GRCm39) |
T33P |
probably benign |
Het |
| BC005537 |
T |
A |
13: 24,993,898 (GRCm39) |
Y124* |
probably null |
Het |
| Capn2 |
T |
C |
1: 182,306,174 (GRCm39) |
D524G |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,590,965 (GRCm39) |
Y1011C |
probably damaging |
Het |
| Cdk18 |
G |
T |
1: 132,043,212 (GRCm39) |
Q438K |
probably benign |
Het |
| Cimap1d |
A |
T |
10: 79,481,484 (GRCm39) |
V15E |
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,416,214 (GRCm39) |
M1047V |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,708,198 (GRCm39) |
I1306N |
probably damaging |
Het |
| Emp2 |
A |
T |
16: 10,102,452 (GRCm39) |
I120N |
probably damaging |
Het |
| Gm2888 |
A |
T |
14: 3,037,656 (GRCm38) |
D216V |
possibly damaging |
Het |
| Naa16 |
T |
A |
14: 79,607,489 (GRCm39) |
H287L |
probably benign |
Het |
| Olfm5 |
A |
G |
7: 103,810,041 (GRCm39) |
S107P |
probably benign |
Het |
| Or10q3 |
G |
T |
19: 11,848,180 (GRCm39) |
Y133* |
probably null |
Het |
| Or51e2 |
C |
A |
7: 102,391,581 (GRCm39) |
V210F |
possibly damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,664 (GRCm39) |
V194A |
probably benign |
Het |
| Ptpn2 |
A |
T |
18: 67,808,959 (GRCm39) |
|
probably null |
Het |
| Sfmbt2 |
T |
C |
2: 10,450,504 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Slc6a20a |
A |
T |
9: 123,493,686 (GRCm39) |
V65E |
probably damaging |
Het |
| Spon1 |
C |
T |
7: 113,486,080 (GRCm39) |
T210M |
probably damaging |
Het |
| Sugp1 |
T |
C |
8: 70,512,061 (GRCm39) |
|
probably null |
Het |
| Tas2r143 |
C |
A |
6: 42,377,810 (GRCm39) |
H213Q |
probably damaging |
Het |
| Terf1 |
C |
A |
1: 15,875,963 (GRCm39) |
S21* |
probably null |
Het |
| Trim12a |
T |
C |
7: 103,956,138 (GRCm39) |
E134G |
probably damaging |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
| Tssk5 |
T |
C |
15: 76,258,751 (GRCm39) |
Y45C |
probably benign |
Het |
| Usp29 |
T |
A |
7: 6,966,770 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,884,764 (GRCm39) |
M46K |
possibly damaging |
Het |
| Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
probably damaging |
Het |
| Znhit6 |
T |
C |
3: 145,300,413 (GRCm39) |
S230P |
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 |
|
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'- AGAGCACTCCTCACTAGGTAAAG -3'
(R):5'- TGGTTCTGTTCTACAGCACC -3'
Sequencing Primer
(F):5'- CACTCCTCACTAGGTAAAGGGATAAG -3'
(R):5'- ACCGGGCGTTCCTAATCACTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation