Incidental Mutation 'R5225:Serpinb8'
ID |
402533 |
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 |
042798-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R5225 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
107517668-107536708 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 107525201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108326
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000514]
[ENSMUST00000112706]
|
AlphaFold |
O08800 |
Predicted Effect |
probably null
Transcript: ENSMUST00000000514
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000000514 Gene: ENSMUSG00000026315 AA Change: M1K
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112706
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108326 Gene: ENSMUSG00000026315 AA Change: M1K
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151283
|
Meta Mutation Damage Score |
0.9751 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
100% (70/70) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
C |
T |
17: 9,226,839 (GRCm39) |
R465* |
probably null |
Het |
Abcg3 |
A |
T |
5: 105,114,649 (GRCm39) |
D289E |
probably damaging |
Het |
Ablim2 |
G |
T |
5: 36,024,115 (GRCm39) |
|
probably null |
Het |
Acp1 |
A |
T |
12: 30,955,078 (GRCm39) |
V36D |
probably benign |
Het |
Adgrb1 |
T |
A |
15: 74,449,348 (GRCm39) |
|
probably benign |
Het |
Akap6 |
G |
A |
12: 52,933,329 (GRCm39) |
V274I |
probably damaging |
Het |
Arhgap39 |
T |
C |
15: 76,609,715 (GRCm39) |
|
probably benign |
Het |
Bmp1 |
G |
A |
14: 70,717,605 (GRCm39) |
R789W |
probably damaging |
Het |
Catspere2 |
A |
T |
1: 177,976,474 (GRCm39) |
|
probably benign |
Het |
Cfhr2 |
T |
A |
1: 139,749,520 (GRCm39) |
Y154F |
possibly damaging |
Het |
Cilp2 |
T |
C |
8: 70,336,015 (GRCm39) |
Y358C |
probably damaging |
Het |
Cyp1a2 |
T |
A |
9: 57,584,516 (GRCm39) |
K513* |
probably null |
Het |
Dennd4a |
G |
T |
9: 64,796,210 (GRCm39) |
K745N |
possibly damaging |
Het |
Dlg1 |
T |
A |
16: 31,655,085 (GRCm39) |
S542T |
probably benign |
Het |
Dmbt1 |
A |
T |
7: 130,696,465 (GRCm39) |
I893F |
possibly damaging |
Het |
Dnhd1 |
A |
T |
7: 105,353,130 (GRCm39) |
E2761V |
possibly damaging |
Het |
F11 |
T |
C |
8: 45,708,341 (GRCm39) |
T40A |
probably benign |
Het |
Fam227a |
T |
C |
15: 79,520,936 (GRCm39) |
D296G |
possibly damaging |
Het |
Fance |
C |
T |
17: 28,534,589 (GRCm39) |
|
probably benign |
Het |
Gaa |
A |
G |
11: 119,167,669 (GRCm39) |
D149G |
probably damaging |
Het |
Gapt |
A |
G |
13: 110,490,522 (GRCm39) |
M47T |
possibly damaging |
Het |
Gm1110 |
T |
C |
9: 26,813,774 (GRCm39) |
N202D |
probably damaging |
Het |
Gm7535 |
T |
C |
17: 18,131,809 (GRCm39) |
|
probably benign |
Het |
Gm973 |
T |
A |
1: 59,601,859 (GRCm39) |
M491K |
probably benign |
Het |
Gmnc |
A |
G |
16: 26,782,695 (GRCm39) |
V27A |
probably benign |
Het |
Kif27 |
T |
C |
13: 58,440,915 (GRCm39) |
T1167A |
possibly damaging |
Het |
Klrg1 |
T |
A |
6: 122,248,331 (GRCm39) |
*189C |
probably null |
Het |
Lime1 |
T |
A |
2: 181,024,640 (GRCm39) |
M98K |
probably benign |
Het |
Lrp1 |
C |
A |
10: 127,391,965 (GRCm39) |
A2867S |
probably benign |
Het |
Lrrd1 |
G |
A |
5: 3,908,735 (GRCm39) |
S669N |
probably benign |
Het |
Mmel1 |
A |
G |
4: 154,976,456 (GRCm39) |
N520S |
probably damaging |
Het |
Mrpl48 |
A |
C |
7: 100,198,535 (GRCm39) |
L206V |
probably damaging |
Het |
Nagpa |
C |
T |
16: 5,021,596 (GRCm39) |
A52T |
probably benign |
Het |
Or1o3 |
A |
G |
17: 37,573,919 (GRCm39) |
V212A |
probably benign |
Het |
Or4c3 |
T |
G |
2: 89,851,528 (GRCm39) |
D294A |
probably benign |
Het |
Orai2 |
A |
G |
5: 136,190,355 (GRCm39) |
S71P |
probably damaging |
Het |
Pcbp1 |
A |
T |
6: 86,502,209 (GRCm39) |
I230N |
probably damaging |
Het |
Pcdh15 |
T |
C |
10: 74,138,986 (GRCm39) |
L349P |
probably damaging |
Het |
Pcdhb16 |
T |
C |
18: 37,613,011 (GRCm39) |
V657A |
probably benign |
Het |
Prdm15 |
G |
T |
16: 97,609,875 (GRCm39) |
H590N |
probably damaging |
Het |
Psg18 |
T |
C |
7: 18,079,874 (GRCm39) |
I442M |
probably damaging |
Het |
Pygm |
C |
A |
19: 6,439,494 (GRCm39) |
D279E |
probably benign |
Het |
Rrn3 |
T |
A |
16: 13,610,798 (GRCm39) |
|
probably null |
Het |
Sass6 |
T |
C |
3: 116,407,702 (GRCm39) |
S273P |
possibly damaging |
Het |
Schip1 |
A |
G |
3: 68,402,270 (GRCm39) |
M116V |
probably benign |
Het |
Sdc3 |
G |
A |
4: 130,546,087 (GRCm39) |
V55I |
unknown |
Het |
Slc24a5 |
T |
C |
2: 124,927,739 (GRCm39) |
I346T |
probably damaging |
Het |
Slc35f3 |
T |
A |
8: 127,117,846 (GRCm39) |
I335N |
probably damaging |
Het |
Snapc2 |
T |
A |
8: 4,305,299 (GRCm39) |
V147E |
probably damaging |
Het |
Snx2 |
T |
C |
18: 53,322,784 (GRCm39) |
S56P |
possibly damaging |
Het |
Sptbn5 |
A |
G |
2: 119,915,812 (GRCm39) |
|
probably benign |
Het |
Stk19 |
A |
T |
17: 35,040,400 (GRCm39) |
|
probably benign |
Het |
Sulf1 |
A |
G |
1: 12,911,702 (GRCm39) |
E692G |
probably benign |
Het |
Tet1 |
C |
T |
10: 62,674,450 (GRCm39) |
V1209I |
probably damaging |
Het |
Tln1 |
T |
C |
4: 43,539,406 (GRCm39) |
T1639A |
probably benign |
Het |
Tmem135 |
G |
T |
7: 88,845,335 (GRCm39) |
Y165* |
probably null |
Het |
Tmprss6 |
T |
C |
15: 78,336,707 (GRCm39) |
T398A |
probably damaging |
Het |
Ube4a |
C |
T |
9: 44,851,258 (GRCm39) |
|
probably null |
Het |
Vmn1r227 |
T |
C |
17: 20,955,499 (GRCm39) |
|
noncoding transcript |
Het |
Wdhd1 |
T |
C |
14: 47,488,273 (GRCm39) |
S745G |
probably benign |
Het |
Xylt1 |
A |
G |
7: 117,191,263 (GRCm39) |
H353R |
probably damaging |
Het |
Zfp788 |
A |
G |
7: 41,298,980 (GRCm39) |
T539A |
probably benign |
Het |
Zfp866 |
A |
T |
8: 70,218,091 (GRCm39) |
F510I |
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 |
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'- TCCAGAGCTTCTCAGTCCAC -3'
(R):5'- ATACCTCAGACATCTGGGTAGCAG -3'
Sequencing Primer
(F):5'- ATGGCCACATTGATGACCTG -3'
(R):5'- CAGACATCTGGGTAGCAGTGTTTC -3'
|
Posted On |
2016-07-22 |