Incidental Mutation 'R8210:Serpinb8'
| ID |
636093 |
| 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 |
067633-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R8210 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
107517668-107536708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107526736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 92
(L92P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000514]
[ENSMUST00000112706]
|
| AlphaFold |
O08800 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000514
AA Change: L92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000514
Gene: ENSMUSG00000026315
AA Change: L92P
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112706
AA Change: L92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108326
Gene: ENSMUSG00000026315
AA Change: L92P
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (63/63) |
| 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 |
|---|
| Acsbg1 |
G |
A |
9: 54,517,083 (GRCm39) |
P577S |
probably damaging |
Het |
| Adal |
T |
C |
2: 120,985,236 (GRCm39) |
V269A |
possibly damaging |
Het |
| Adam33 |
T |
C |
2: 130,898,250 (GRCm39) |
T155A |
probably benign |
Het |
| Adgre1 |
A |
T |
17: 57,752,061 (GRCm39) |
E603V |
possibly damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,978,441 (GRCm39) |
T301A |
probably damaging |
Het |
| Agtpbp1 |
G |
T |
13: 59,630,385 (GRCm39) |
A782E |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,811,925 (GRCm39) |
K1197N |
possibly damaging |
Het |
| Anxa9 |
A |
T |
3: 95,213,207 (GRCm39) |
D46E |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,161,927 (GRCm39) |
T540A |
probably damaging |
Het |
| Atg9a |
A |
G |
1: 75,163,009 (GRCm39) |
Y364H |
probably damaging |
Het |
| Bltp1 |
A |
C |
3: 37,067,030 (GRCm39) |
E73A |
|
Het |
| Cd300c2 |
C |
T |
11: 114,891,634 (GRCm39) |
G80D |
possibly damaging |
Het |
| Cebpz |
T |
C |
17: 79,230,685 (GRCm39) |
E844G |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,863,436 (GRCm39) |
I1199V |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,220,696 (GRCm39) |
N189S |
probably damaging |
Het |
| Dhrs13 |
G |
T |
11: 77,924,302 (GRCm39) |
R116I |
unknown |
Het |
| Dnah10 |
A |
G |
5: 124,827,858 (GRCm39) |
M735V |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| E130208F15Rik |
C |
A |
7: 30,021,619 (GRCm39) |
S93* |
probably null |
Het |
| E330034G19Rik |
T |
C |
14: 24,346,104 (GRCm39) |
I92T |
|
Het |
| Eef1d |
A |
T |
15: 75,768,309 (GRCm39) |
V511D |
probably damaging |
Het |
| Efna1 |
T |
G |
3: 89,183,520 (GRCm39) |
E102A |
probably damaging |
Het |
| H2-M11 |
C |
A |
17: 36,858,860 (GRCm39) |
F133L |
probably damaging |
Het |
| Htr3b |
G |
T |
9: 48,847,343 (GRCm39) |
|
probably null |
Het |
| Kcns3 |
A |
G |
12: 11,142,253 (GRCm39) |
S149P |
probably damaging |
Het |
| Lhx4 |
T |
A |
1: 155,586,214 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
C |
T |
10: 127,412,354 (GRCm39) |
V1317M |
probably damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,405,174 (GRCm39) |
I799T |
probably damaging |
Het |
| Muc1 |
C |
T |
3: 89,138,906 (GRCm39) |
A505V |
probably damaging |
Het |
| Muc6 |
C |
A |
7: 141,235,673 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
G |
16: 34,820,721 (GRCm39) |
D1891G |
probably damaging |
Het |
| Nfe2l3 |
A |
T |
6: 51,428,065 (GRCm39) |
H209L |
probably benign |
Het |
| Nprl2 |
A |
C |
9: 107,421,947 (GRCm39) |
Y241S |
probably damaging |
Het |
| Oprm1 |
A |
T |
10: 6,780,442 (GRCm39) |
Q368L |
probably benign |
Het |
| Or4g7 |
T |
A |
2: 111,309,753 (GRCm39) |
M208K |
possibly damaging |
Het |
| Pcm1 |
C |
T |
8: 41,766,974 (GRCm39) |
R1593C |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,162,878 (GRCm39) |
|
probably null |
Het |
| Pnoc |
A |
G |
14: 65,642,521 (GRCm39) |
S81P |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,114,393 (GRCm39) |
D585V |
probably damaging |
Het |
| Prpf38b |
A |
T |
3: 108,815,148 (GRCm39) |
|
probably benign |
Het |
| Ranbp3l |
G |
T |
15: 9,065,059 (GRCm39) |
S482I |
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 72,056,364 (GRCm39) |
F651L |
probably benign |
Het |
| Rasgrf1 |
A |
G |
9: 89,793,675 (GRCm39) |
T151A |
unknown |
Het |
| Rnf215 |
T |
C |
11: 4,085,544 (GRCm39) |
L91P |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,099,312 (GRCm39) |
H193R |
probably benign |
Het |
| Rps17 |
C |
T |
7: 80,994,750 (GRCm39) |
V4I |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,881,728 (GRCm39) |
F234Y |
possibly damaging |
Het |
| Slc1a6 |
A |
T |
10: 78,632,091 (GRCm39) |
I306F |
possibly damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,270,692 (GRCm39) |
V538A |
possibly damaging |
Het |
| Slc27a1 |
G |
A |
8: 72,032,566 (GRCm39) |
S193N |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,097,948 (GRCm39) |
S393P |
probably damaging |
Het |
| Slfn3 |
T |
A |
11: 83,105,332 (GRCm39) |
I320K |
possibly damaging |
Het |
| Spata31f1a |
T |
A |
4: 42,848,542 (GRCm39) |
M1205L |
probably benign |
Het |
| Tgfbr1 |
A |
T |
4: 47,406,924 (GRCm39) |
I420F |
probably benign |
Het |
| Tnik |
A |
T |
3: 28,658,482 (GRCm39) |
D589V |
possibly damaging |
Het |
| Trappc8 |
A |
C |
18: 21,006,938 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
A |
G |
17: 46,791,087 (GRCm39) |
S66P |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,392,220 (GRCm39) |
V2044A |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,741,045 (GRCm39) |
E735G |
probably benign |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,673,462 (GRCm39) |
N180K |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,302,037 (GRCm39) |
V1853D |
probably damaging |
Het |
| Zkscan17 |
A |
G |
11: 59,394,574 (GRCm39) |
V9A |
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 |
|
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'- CCCTTAGCTGTGCTTGTGTGTA -3'
(R):5'- AGCCTGCTCTTCCCAAACT -3'
Sequencing Primer
(F):5'- CTTGTGTGTAGGAGGGGAGAAAAC -3'
(R):5'- GCATGCTACCAAGGTGCATTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation