Incidental Mutation 'R9459:Serpinb8'
| ID |
714736 |
| 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 # |
R9459 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
107517668-107536708 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 107533520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 192
(K192*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000514]
[ENSMUST00000112706]
[ENSMUST00000123086]
|
| AlphaFold |
O08800 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000514
AA Change: K192*
|
| SMART Domains |
Protein: ENSMUSP00000000514
Gene: ENSMUSG00000026315
AA Change: K192*
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112706
AA Change: K192*
|
| SMART Domains |
Protein: ENSMUSP00000108326
Gene: ENSMUSG00000026315
AA Change: K192*
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123086
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,735,414 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,604,946 (GRCm39) |
C2199S |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,189,468 (GRCm39) |
I390V |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,123,651 (GRCm39) |
N400S |
probably benign |
Het |
| Baalc |
A |
T |
15: 38,797,419 (GRCm39) |
N70I |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,464,094 (GRCm39) |
V1286D |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,234,470 (GRCm39) |
R81G |
possibly damaging |
Het |
| Cd209g |
T |
C |
8: 4,185,610 (GRCm39) |
S15P |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,883,884 (GRCm39) |
W207* |
probably null |
Het |
| Cmpk2 |
C |
T |
12: 26,528,022 (GRCm39) |
T413M |
probably damaging |
Het |
| Coq4 |
T |
A |
2: 29,678,562 (GRCm39) |
Y63N |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,148,117 (GRCm39) |
S1478T |
probably damaging |
Het |
| Etf1 |
A |
G |
18: 35,039,134 (GRCm39) |
F378L |
probably benign |
Het |
| Exoc6 |
T |
C |
19: 37,574,341 (GRCm39) |
V324A |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,560,907 (GRCm39) |
L1200P |
probably benign |
Het |
| Gadl1 |
T |
C |
9: 115,794,679 (GRCm39) |
W285R |
probably damaging |
Het |
| Gbp3 |
A |
G |
3: 142,270,707 (GRCm39) |
|
probably null |
Het |
| Gm14295 |
C |
T |
2: 176,499,165 (GRCm39) |
T5I |
possibly damaging |
Het |
| Hps4 |
T |
C |
5: 112,522,875 (GRCm39) |
S578P |
probably benign |
Het |
| Kctd13 |
T |
A |
7: 126,544,254 (GRCm39) |
D317E |
probably damaging |
Het |
| Kdm4b |
T |
A |
17: 56,706,509 (GRCm39) |
D881E |
probably benign |
Het |
| Klf10 |
G |
A |
15: 38,296,171 (GRCm39) |
P473L |
probably damaging |
Het |
| Lrch3 |
A |
T |
16: 32,799,775 (GRCm39) |
D371V |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,985,758 (GRCm39) |
S112P |
possibly damaging |
Het |
| Msh3 |
A |
G |
13: 92,352,047 (GRCm39) |
V1036A |
possibly damaging |
Het |
| Mybl1 |
A |
G |
1: 9,746,484 (GRCm39) |
V392A |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,722,380 (GRCm39) |
I1182V |
possibly damaging |
Het |
| Nectin1 |
A |
C |
9: 43,715,090 (GRCm39) |
E442A |
probably benign |
Het |
| Nscme3l |
T |
A |
19: 5,553,757 (GRCm39) |
H8L |
probably benign |
Het |
| Obsl1 |
G |
T |
1: 75,474,884 (GRCm39) |
H839N |
probably benign |
Het |
| Or4c105 |
T |
C |
2: 88,647,967 (GRCm39) |
F151L |
probably benign |
Het |
| Or9i1b |
T |
C |
19: 13,896,674 (GRCm39) |
C97R |
possibly damaging |
Het |
| Pacs1 |
C |
T |
19: 5,195,098 (GRCm39) |
|
probably null |
Het |
| Pcdh17 |
G |
T |
14: 84,686,063 (GRCm39) |
E843D |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,228,572 (GRCm39) |
L1531P |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,353,129 (GRCm39) |
D973G |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,614,800 (GRCm39) |
Y214C |
probably damaging |
Het |
| Plcb1 |
T |
C |
2: 135,164,558 (GRCm39) |
Y427H |
probably benign |
Het |
| Ppm1h |
A |
G |
10: 122,743,482 (GRCm39) |
N402S |
possibly damaging |
Het |
| Rassf4 |
T |
A |
6: 116,618,749 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
G |
A |
7: 28,768,068 (GRCm39) |
T2856I |
probably damaging |
Het |
| Slfn14 |
T |
G |
11: 83,170,198 (GRCm39) |
Q482P |
possibly damaging |
Het |
| Spata2 |
A |
G |
2: 167,327,205 (GRCm39) |
V64A |
probably benign |
Het |
| Tax1bp1 |
T |
G |
6: 52,706,314 (GRCm39) |
V105G |
probably damaging |
Het |
| Tbc1d22a |
T |
G |
15: 86,120,021 (GRCm39) |
S142A |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,992,007 (GRCm39) |
F594S |
probably damaging |
Het |
| Uba3 |
T |
C |
6: 97,166,559 (GRCm39) |
I281V |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,286,595 (GRCm39) |
E723G |
probably benign |
Het |
| Usp20 |
C |
T |
2: 30,901,024 (GRCm39) |
S391F |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,199,555 (GRCm39) |
D166E |
probably damaging |
Het |
| Vmn1r1 |
A |
G |
1: 181,985,503 (GRCm39) |
V54A |
probably benign |
Het |
| Zfp442 |
T |
A |
2: 150,250,668 (GRCm39) |
E411D |
unknown |
Het |
| Zfp804a |
T |
C |
2: 82,089,753 (GRCm39) |
I1194T |
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 |
|
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 |
|
|
X0018:Serpinb8
|
UTSW |
1 |
107,525,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTTGGAAGTGCTTCACTATGAG -3'
(R):5'- GTTTCCATAGACTCTCAGCGC -3'
Sequencing Primer
(F):5'- TCTATTCTACTAATACTGCAATGTGC -3'
(R):5'- ATAGACTCTCAGCGCCCAGG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation