Incidental Mutation 'R6681:Serpinb8'
| ID |
527476 |
| 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 |
044800-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6681 (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 A
at 107525321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 41
(M41K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000514]
[ENSMUST00000112706]
|
| AlphaFold |
O08800 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000514
AA Change: M41K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000514
Gene: ENSMUSG00000026315
AA Change: M41K
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112706
AA Change: M41K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108326
Gene: ENSMUSG00000026315
AA Change: M41K
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
374 |
1.69e-177 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151283
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
98% (45/46) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
T |
3: 121,915,447 (GRCm39) |
T971S |
probably damaging |
Het |
| Catsperb |
C |
T |
12: 101,590,994 (GRCm39) |
Q1021* |
probably null |
Het |
| Ccdc62 |
A |
G |
5: 124,072,156 (GRCm39) |
T62A |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 130,913,412 (GRCm39) |
S402P |
probably damaging |
Het |
| Dcun1d1 |
C |
T |
3: 35,949,819 (GRCm39) |
V244M |
probably damaging |
Het |
| Dennd2c |
A |
G |
3: 103,038,977 (GRCm39) |
T42A |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,560,385 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dpp4 |
A |
T |
2: 62,178,893 (GRCm39) |
F607L |
probably benign |
Het |
| Ech1 |
C |
T |
7: 28,529,763 (GRCm39) |
|
probably null |
Het |
| Fam53a |
A |
G |
5: 33,765,184 (GRCm39) |
L174P |
probably damaging |
Het |
| Fh1 |
T |
C |
1: 175,446,690 (GRCm39) |
D62G |
probably null |
Het |
| Gpatch11 |
T |
C |
17: 79,147,528 (GRCm39) |
I103T |
probably damaging |
Het |
| Hmgcll1 |
A |
T |
9: 75,988,731 (GRCm39) |
T169S |
probably benign |
Het |
| Kbtbd3 |
A |
T |
9: 4,330,687 (GRCm39) |
I354F |
probably benign |
Het |
| Kdm5b |
T |
C |
1: 134,541,007 (GRCm39) |
F700L |
possibly damaging |
Het |
| Mamdc4 |
C |
A |
2: 25,457,756 (GRCm39) |
G439V |
probably damaging |
Het |
| Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
| Mug1 |
C |
T |
6: 121,815,683 (GRCm39) |
S29L |
possibly damaging |
Het |
| Myh2 |
G |
A |
11: 67,069,174 (GRCm39) |
D328N |
probably damaging |
Het |
| Or10j3b |
C |
A |
1: 173,043,973 (GRCm39) |
H252N |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,823 (GRCm39) |
Y290C |
probably damaging |
Het |
| Or5j1 |
T |
C |
2: 86,878,942 (GRCm39) |
T213A |
probably benign |
Het |
| Or8g54 |
T |
A |
9: 39,706,710 (GRCm39) |
I13N |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,251 (GRCm39) |
M464L |
probably benign |
Het |
| Pus7l |
G |
A |
15: 94,425,746 (GRCm39) |
P552S |
probably benign |
Het |
| Rest |
A |
G |
5: 77,428,844 (GRCm39) |
K421R |
probably damaging |
Het |
| Rttn |
C |
A |
18: 89,032,735 (GRCm39) |
H668N |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,393,686 (GRCm39) |
I228V |
possibly damaging |
Het |
| Scp2 |
G |
T |
4: 107,948,513 (GRCm39) |
Q155K |
probably damaging |
Het |
| Sec61a2 |
G |
A |
2: 5,881,219 (GRCm39) |
R18* |
probably null |
Het |
| Sgsm2 |
A |
T |
11: 74,756,204 (GRCm39) |
W382R |
probably damaging |
Het |
| Slc26a10 |
G |
T |
10: 127,009,530 (GRCm39) |
T606N |
possibly damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,711,027 (GRCm39) |
I40T |
possibly damaging |
Het |
| Slfn5 |
G |
A |
11: 82,847,204 (GRCm39) |
E30K |
possibly damaging |
Het |
| Sorcs2 |
C |
A |
5: 36,555,154 (GRCm39) |
R79L |
probably benign |
Het |
| Tmc5 |
G |
A |
7: 118,268,527 (GRCm39) |
S865N |
probably damaging |
Het |
| Tmprss11c |
T |
A |
5: 86,437,119 (GRCm39) |
M1L |
possibly damaging |
Het |
| Trpv5 |
C |
G |
6: 41,630,288 (GRCm39) |
E601Q |
probably damaging |
Het |
| Ttc39b |
A |
T |
4: 83,158,285 (GRCm39) |
|
probably benign |
Het |
| Ttll6 |
T |
A |
11: 96,029,689 (GRCm39) |
C201S |
probably damaging |
Het |
| Vezt |
A |
G |
10: 93,832,859 (GRCm39) |
V204A |
probably benign |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,985 (GRCm39) |
|
probably benign |
Het |
| Zfp433 |
A |
T |
10: 81,556,722 (GRCm39) |
H408L |
probably damaging |
Het |
| Zfp865 |
T |
C |
7: 5,032,450 (GRCm39) |
I145T |
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 |
|
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 |
|
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'- ACCATGCAACTACAGTAAGCTTTG -3'
(R):5'- ATTCTGTACTGGCCCATGTC -3'
Sequencing Primer
(F):5'- CAGTAAGCTTTGTTGATGTACCTC -3'
(R):5'- GGCCCATGTCAGTTCACCAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation