Incidental Mutation 'R2898:Serpinb8'
| ID |
477204 |
| 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 |
040486-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R2898 (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 G
at 107534776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 32
(T32A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000514]
[ENSMUST00000112706]
[ENSMUST00000123086]
|
| AlphaFold |
O08800 |
| Predicted Effect |
silent
Transcript: ENSMUST00000000514
|
| SMART Domains |
Protein: ENSMUSP00000000514
Gene: ENSMUSG00000026315
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000112706
|
| SMART Domains |
Protein: ENSMUSP00000108326
Gene: ENSMUSG00000026315
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123086
AA Change: T32A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151283
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
C |
T |
X: 77,413,868 (GRCm39) |
Q198* |
probably null |
Het |
| Acap3 |
C |
T |
4: 155,987,916 (GRCm39) |
R547C |
possibly damaging |
Het |
| Acap3 |
G |
C |
4: 155,989,388 (GRCm39) |
|
probably null |
Het |
| Adcy6 |
A |
G |
15: 98,491,369 (GRCm39) |
S1075P |
probably damaging |
Het |
| Ankk1 |
T |
A |
9: 49,333,122 (GRCm39) |
T121S |
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,211,152 (GRCm39) |
I406V |
probably damaging |
Het |
| Bnipl |
T |
A |
3: 95,150,360 (GRCm39) |
H219L |
probably benign |
Het |
| Brwd1 |
C |
A |
16: 95,867,300 (GRCm39) |
M178I |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,988,341 (GRCm39) |
|
probably null |
Het |
| Chd5 |
T |
C |
4: 152,456,572 (GRCm39) |
F970L |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,012,037 (GRCm39) |
|
probably null |
Het |
| Coq9 |
T |
C |
8: 95,579,752 (GRCm39) |
Y236H |
probably damaging |
Het |
| Cxcr2 |
T |
C |
1: 74,198,130 (GRCm39) |
V208A |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,894,734 (GRCm39) |
R3433H |
probably damaging |
Het |
| Dnmt3b |
G |
T |
2: 153,509,550 (GRCm39) |
V268L |
possibly damaging |
Het |
| Fbxw21 |
T |
C |
9: 108,985,404 (GRCm39) |
T125A |
possibly damaging |
Het |
| Fzd9 |
T |
G |
5: 135,278,700 (GRCm39) |
D395A |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,309,469 (GRCm39) |
V642A |
possibly damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Hid1 |
A |
G |
11: 115,241,356 (GRCm39) |
S645P |
probably benign |
Het |
| Hmgxb3 |
C |
T |
18: 61,288,368 (GRCm39) |
V500M |
probably benign |
Het |
| Hnf1a |
C |
T |
5: 115,098,106 (GRCm39) |
W165* |
probably null |
Het |
| Hsd3b1 |
A |
T |
3: 98,760,623 (GRCm39) |
C123S |
probably benign |
Het |
| Inpp4a |
A |
T |
1: 37,405,675 (GRCm39) |
H148L |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,074,839 (GRCm39) |
R2338Q |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,224,667 (GRCm39) |
I1441N |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,114,350 (GRCm39) |
T31A |
possibly damaging |
Het |
| Lrrc15 |
C |
T |
16: 30,092,604 (GRCm39) |
R245H |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,063,111 (GRCm39) |
N65S |
probably damaging |
Het |
| Mpp4 |
T |
C |
1: 59,183,853 (GRCm39) |
I296V |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,176,893 (GRCm39) |
|
probably null |
Het |
| Myo7a |
G |
T |
7: 97,703,631 (GRCm39) |
Y2003* |
probably null |
Het |
| Myo7a |
T |
C |
7: 97,746,413 (GRCm39) |
N246D |
probably damaging |
Het |
| Ndrg4 |
A |
G |
8: 96,405,014 (GRCm39) |
|
probably null |
Het |
| Neu2 |
A |
G |
1: 87,522,782 (GRCm39) |
S72G |
probably benign |
Het |
| Or51g1 |
T |
A |
7: 102,634,084 (GRCm39) |
I96F |
probably benign |
Het |
| Or8b1c |
T |
C |
9: 38,384,271 (GRCm39) |
V76A |
probably damaging |
Het |
| Pcdhb1 |
A |
G |
18: 37,399,516 (GRCm39) |
Y489C |
probably damaging |
Het |
| Ppp1r10 |
A |
G |
17: 36,239,784 (GRCm39) |
K501R |
probably damaging |
Het |
| Ppp1r9a |
C |
T |
6: 4,906,558 (GRCm39) |
T371I |
probably benign |
Het |
| Prpf8 |
A |
T |
11: 75,386,860 (GRCm39) |
T1102S |
probably benign |
Het |
| Ric8b |
T |
G |
10: 84,783,761 (GRCm39) |
D206E |
probably benign |
Het |
| Sacm1l |
T |
C |
9: 123,389,666 (GRCm39) |
|
probably null |
Het |
| Sema6c |
C |
A |
3: 95,080,129 (GRCm39) |
L776M |
probably damaging |
Het |
| Sh2b3 |
A |
T |
5: 121,967,111 (GRCm39) |
M1K |
probably null |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Spty2d1 |
T |
A |
7: 46,643,100 (GRCm39) |
M664L |
unknown |
Het |
| Stk36 |
T |
A |
1: 74,671,984 (GRCm39) |
S895T |
probably null |
Het |
| Sycp3 |
G |
A |
10: 88,308,544 (GRCm39) |
E205K |
possibly damaging |
Het |
| Taok3 |
A |
G |
5: 117,338,134 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
T |
C |
13: 3,635,122 (GRCm39) |
N562D |
possibly damaging |
Het |
| Tbc1d16 |
A |
T |
11: 119,048,654 (GRCm39) |
I333N |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Thumpd2 |
C |
T |
17: 81,351,557 (GRCm39) |
W288* |
probably null |
Het |
| Tnks2 |
T |
C |
19: 36,849,990 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpm1 |
T |
C |
9: 66,938,322 (GRCm39) |
D254G |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,751,223 (GRCm39) |
L278* |
probably null |
Het |
| Zfp37 |
C |
T |
4: 62,110,014 (GRCm39) |
G350D |
probably damaging |
Het |
| Zfp777 |
C |
T |
6: 48,002,594 (GRCm39) |
E543K |
probably damaging |
Het |
| Zfp81 |
A |
T |
17: 33,553,274 (GRCm39) |
C513* |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2017-05-15 |
Incidental Mutation