Incidental Mutation 'R7716:Serpinb8'
ID |
594896 |
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 |
045774-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R7716 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
107517668-107536708 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 107532438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 177
(R177*)
|
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: R177*
|
SMART Domains |
Protein: ENSMUSP00000000514 Gene: ENSMUSG00000026315 AA Change: R177*
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112706
AA Change: R177*
|
SMART Domains |
Protein: ENSMUSP00000108326 Gene: ENSMUSG00000026315 AA Change: R177*
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: 99.1%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110032F04Rik |
G |
A |
3: 68,777,162 (GRCm39) |
C41Y |
possibly damaging |
Het |
Abcg1 |
A |
G |
17: 31,328,493 (GRCm39) |
I421V |
probably benign |
Het |
Ank2 |
G |
T |
3: 126,736,815 (GRCm39) |
T3023K |
unknown |
Het |
Asb5 |
T |
A |
8: 55,038,021 (GRCm39) |
H181Q |
probably benign |
Het |
Asnsd1 |
C |
T |
1: 53,386,902 (GRCm39) |
V242I |
probably benign |
Het |
Atp2a1 |
C |
A |
7: 126,061,359 (GRCm39) |
G46V |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,869,056 (GRCm39) |
S335G |
probably damaging |
Het |
Bmp1 |
A |
T |
14: 70,715,362 (GRCm39) |
Y924* |
probably null |
Het |
Ccdc3 |
T |
A |
2: 5,143,113 (GRCm39) |
F123L |
probably benign |
Het |
Col6a6 |
C |
A |
9: 105,661,102 (GRCm39) |
V336L |
possibly damaging |
Het |
Cpe |
T |
C |
8: 65,064,431 (GRCm39) |
Y256C |
probably damaging |
Het |
Creb1 |
T |
A |
1: 64,605,420 (GRCm39) |
D62E |
possibly damaging |
Het |
Cyp4a32 |
T |
A |
4: 115,458,283 (GRCm39) |
Y38N |
probably damaging |
Het |
Cyren |
T |
C |
6: 34,852,516 (GRCm39) |
N60D |
possibly damaging |
Het |
Dnajc1 |
A |
G |
2: 18,224,684 (GRCm39) |
S390P |
probably benign |
Het |
Edrf1 |
G |
A |
7: 133,245,455 (GRCm39) |
E198K |
probably damaging |
Het |
Ehmt1 |
A |
G |
2: 24,774,511 (GRCm39) |
S98P |
probably damaging |
Het |
Emsy |
G |
A |
7: 98,248,973 (GRCm39) |
A812V |
unknown |
Het |
Eppk1 |
A |
T |
15: 75,991,703 (GRCm39) |
L1726* |
probably null |
Het |
Flnb |
G |
T |
14: 7,917,274 (GRCm38) |
K1584N |
possibly damaging |
Het |
Gclc |
C |
T |
9: 77,662,209 (GRCm39) |
R40W |
probably damaging |
Het |
Gnpat |
A |
G |
8: 125,603,673 (GRCm39) |
R194G |
probably benign |
Het |
Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
Il17re |
T |
C |
6: 113,439,930 (GRCm39) |
|
probably null |
Het |
Inpp5d |
G |
A |
1: 87,593,121 (GRCm39) |
V74I |
probably damaging |
Het |
Iqcb1 |
T |
C |
16: 36,687,969 (GRCm39) |
S443P |
probably benign |
Het |
Irak2 |
AC |
ACC |
6: 113,667,859 (GRCm39) |
|
probably null |
Het |
Kansl1l |
A |
G |
1: 66,840,292 (GRCm39) |
V336A |
probably damaging |
Het |
Klhdc4 |
T |
A |
8: 122,556,159 (GRCm39) |
M21L |
unknown |
Het |
Lgalsl2 |
T |
C |
7: 5,362,819 (GRCm39) |
I150T |
possibly damaging |
Het |
Lrguk |
C |
T |
6: 34,072,474 (GRCm39) |
A588V |
probably damaging |
Het |
Marchf5 |
T |
C |
19: 37,197,822 (GRCm39) |
Y164H |
probably benign |
Het |
Mbip |
T |
A |
12: 56,392,473 (GRCm39) |
H38L |
probably benign |
Het |
Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
Myh8 |
A |
T |
11: 67,189,478 (GRCm39) |
Q1218L |
possibly damaging |
Het |
Ndc80 |
A |
T |
17: 71,830,589 (GRCm39) |
I56K |
probably benign |
Het |
Ndufs1 |
T |
C |
1: 63,192,016 (GRCm39) |
D437G |
possibly damaging |
Het |
Nlrc4 |
A |
G |
17: 74,753,651 (GRCm39) |
L244P |
probably damaging |
Het |
Or11h6 |
A |
G |
14: 50,879,815 (GRCm39) |
T20A |
probably benign |
Het |
Or14a258 |
A |
T |
7: 86,035,262 (GRCm39) |
M202K |
probably benign |
Het |
Pdc |
A |
C |
1: 150,206,534 (GRCm39) |
D40A |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,373,460 (GRCm39) |
Y2225C |
possibly damaging |
Het |
Plce1 |
G |
T |
19: 38,705,295 (GRCm39) |
G900V |
probably benign |
Het |
Plpp1 |
A |
T |
13: 112,993,323 (GRCm39) |
H86L |
probably benign |
Het |
Plpp1 |
T |
G |
13: 112,996,186 (GRCm39) |
F168C |
probably damaging |
Het |
Pms1 |
G |
A |
1: 53,246,767 (GRCm39) |
P312S |
probably damaging |
Het |
Prf1 |
G |
A |
10: 61,135,934 (GRCm39) |
R70H |
possibly damaging |
Het |
Pygo1 |
A |
G |
9: 72,850,208 (GRCm39) |
D19G |
probably damaging |
Het |
Sdr42e1 |
T |
A |
8: 118,400,386 (GRCm39) |
|
probably benign |
Het |
Serpini1 |
A |
C |
3: 75,524,021 (GRCm39) |
S210R |
probably damaging |
Het |
Slc29a4 |
C |
T |
5: 142,704,261 (GRCm39) |
P305L |
probably benign |
Het |
Smco3 |
T |
A |
6: 136,808,247 (GRCm39) |
Y209F |
probably damaging |
Het |
Smtn |
C |
G |
11: 3,474,708 (GRCm39) |
S216T |
probably benign |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
Sri |
T |
A |
5: 8,106,641 (GRCm39) |
|
probably null |
Het |
Strn |
G |
A |
17: 78,963,204 (GRCm39) |
P716L |
probably damaging |
Het |
Tmem167b |
T |
C |
3: 108,466,213 (GRCm39) |
Y69C |
probably damaging |
Het |
Trpc7 |
A |
T |
13: 56,937,573 (GRCm39) |
F628I |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,713,956 (GRCm39) |
I65N |
possibly damaging |
Het |
Tspan14 |
C |
A |
14: 40,633,090 (GRCm39) |
G201C |
probably damaging |
Het |
Tti1 |
T |
A |
2: 157,842,618 (GRCm39) |
I804F |
probably benign |
Het |
Unc5b |
C |
T |
10: 60,613,217 (GRCm39) |
G340R |
probably damaging |
Het |
Usp13 |
C |
A |
3: 32,892,005 (GRCm39) |
Y61* |
probably null |
Het |
Vmn1r230 |
T |
C |
17: 21,067,144 (GRCm39) |
M111T |
possibly damaging |
Het |
Vmn2r26 |
T |
A |
6: 124,038,704 (GRCm39) |
Y760N |
probably damaging |
Het |
Vmn2r87 |
A |
G |
10: 130,308,018 (GRCm39) |
V740A |
probably benign |
Het |
Zbtb14 |
A |
G |
17: 69,694,415 (GRCm39) |
I38V |
probably benign |
Het |
Zfp623 |
T |
C |
15: 75,820,271 (GRCm39) |
I409T |
probably damaging |
Het |
Zfp764l1 |
T |
A |
7: 126,991,259 (GRCm39) |
M243L |
probably benign |
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 |
|
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'- TCCTCGTCTCCCAAATCAGTATAG -3'
(R):5'- CAGAGGAGGCATCACTTTCATTAG -3'
Sequencing Primer
(F):5'- GTCTCCCAAATCAGTATAGGCTTC -3'
(R):5'- ACAGCAACACATTGAAAGT -3'
|
Posted On |
2019-11-12 |