Incidental Mutation 'IGL02981:Serpina3k'
ID |
406559 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpina3k
|
Ensembl Gene |
ENSMUSG00000058207 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3K |
Synonyms |
Spi-2, alpha-1 antiproteinase, MMSpi2, 1300001I07Rik, RP54, contrapsin, Spi2, MMCM2, D12Rp54 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
IGL02981
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
104304745-104311998 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 104307250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 161
(Q161K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043058]
[ENSMUST00000101078]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043058
AA Change: Q161K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000042095 Gene: ENSMUSG00000058207 AA Change: Q161K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
SERPIN
|
57 |
417 |
4.77e-195 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101078
|
SMART Domains |
Protein: ENSMUSP00000098639 Gene: ENSMUSG00000079012
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
SERPIN
|
56 |
417 |
3.12e-199 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
A |
G |
2: 150,675,044 (GRCm39) |
S392P |
probably benign |
Het |
Adam23 |
G |
A |
1: 63,610,112 (GRCm39) |
V705I |
probably damaging |
Het |
Ank2 |
T |
G |
3: 126,728,211 (GRCm39) |
D794A |
possibly damaging |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Aqr |
T |
C |
2: 113,965,305 (GRCm39) |
|
probably benign |
Het |
Atp9b |
A |
G |
18: 80,797,504 (GRCm39) |
V857A |
possibly damaging |
Het |
Banp |
T |
C |
8: 122,705,303 (GRCm39) |
Y58H |
possibly damaging |
Het |
Cacna1e |
T |
A |
1: 154,347,171 (GRCm39) |
N999Y |
probably benign |
Het |
Cd14 |
T |
C |
18: 36,859,532 (GRCm39) |
|
probably benign |
Het |
Crmp1 |
T |
C |
5: 37,443,770 (GRCm39) |
I447T |
probably damaging |
Het |
Dip2a |
A |
G |
10: 76,112,255 (GRCm39) |
V1090A |
possibly damaging |
Het |
Ep400 |
T |
A |
5: 110,903,969 (GRCm39) |
H210L |
possibly damaging |
Het |
Ep400 |
T |
A |
5: 110,839,476 (GRCm39) |
|
probably benign |
Het |
Fam243 |
T |
C |
16: 92,117,757 (GRCm39) |
N177S |
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,573,862 (GRCm39) |
F97L |
probably benign |
Het |
Fut8 |
C |
A |
12: 77,521,812 (GRCm39) |
P484T |
probably damaging |
Het |
Golph3 |
A |
G |
15: 12,349,550 (GRCm39) |
E190G |
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,815,670 (GRCm39) |
D1472E |
possibly damaging |
Het |
Hnrnpdl |
T |
C |
5: 100,184,958 (GRCm39) |
I298V |
possibly damaging |
Het |
Jakmip2 |
C |
A |
18: 43,695,595 (GRCm39) |
|
probably null |
Het |
Kcnj5 |
G |
A |
9: 32,233,877 (GRCm39) |
T146I |
probably damaging |
Het |
Lyst |
T |
G |
13: 13,809,496 (GRCm39) |
F389V |
probably damaging |
Het |
Myo1b |
A |
G |
1: 51,817,532 (GRCm39) |
S577P |
probably damaging |
Het |
Myo3b |
T |
C |
2: 69,938,969 (GRCm39) |
V114A |
probably damaging |
Het |
Or10a2 |
C |
A |
7: 106,673,758 (GRCm39) |
T241N |
probably damaging |
Het |
Pappa2 |
C |
T |
1: 158,678,714 (GRCm39) |
G901R |
probably benign |
Het |
Patz1 |
T |
C |
11: 3,240,656 (GRCm39) |
Y15H |
probably damaging |
Het |
Pdp2 |
T |
C |
8: 105,320,267 (GRCm39) |
W39R |
probably benign |
Het |
Poc5 |
T |
C |
13: 96,538,265 (GRCm39) |
|
probably null |
Het |
Pou3f1 |
A |
G |
4: 124,552,236 (GRCm39) |
D246G |
probably damaging |
Het |
Pramel5 |
T |
A |
4: 143,999,430 (GRCm39) |
Y219F |
probably benign |
Het |
Prrc2c |
C |
T |
1: 162,532,748 (GRCm39) |
|
probably benign |
Het |
Ptpn13 |
A |
G |
5: 103,676,670 (GRCm39) |
K678E |
probably damaging |
Het |
Rps2 |
T |
C |
17: 24,940,698 (GRCm39) |
F271L |
probably benign |
Het |
Serpinb6b |
A |
G |
13: 33,155,589 (GRCm39) |
T101A |
probably benign |
Het |
Tprkb |
T |
A |
6: 85,904,861 (GRCm39) |
D112E |
probably benign |
Het |
Tubal3 |
A |
G |
13: 3,983,257 (GRCm39) |
T346A |
probably benign |
Het |
Vwde |
A |
G |
6: 13,193,112 (GRCm39) |
F409S |
possibly damaging |
Het |
Zbtb6 |
G |
A |
2: 37,319,176 (GRCm39) |
Q251* |
probably null |
Het |
|
Other mutations in Serpina3k |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01331:Serpina3k
|
APN |
12 |
104,309,369 (GRCm39) |
missense |
probably benign |
0.36 |
IGL01402:Serpina3k
|
APN |
12 |
104,306,882 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01404:Serpina3k
|
APN |
12 |
104,306,882 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01958:Serpina3k
|
APN |
12 |
104,307,316 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02031:Serpina3k
|
APN |
12 |
104,311,525 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02055:Serpina3k
|
APN |
12 |
104,307,295 (GRCm39) |
nonsense |
probably null |
|
IGL03269:Serpina3k
|
APN |
12 |
104,306,780 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1076:Serpina3k
|
UTSW |
12 |
104,307,253 (GRCm39) |
missense |
probably benign |
0.00 |
R2360:Serpina3k
|
UTSW |
12 |
104,307,166 (GRCm39) |
nonsense |
probably null |
|
R3816:Serpina3k
|
UTSW |
12 |
104,307,221 (GRCm39) |
missense |
probably benign |
0.08 |
R4577:Serpina3k
|
UTSW |
12 |
104,310,451 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4656:Serpina3k
|
UTSW |
12 |
104,311,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R4732:Serpina3k
|
UTSW |
12 |
104,307,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R4733:Serpina3k
|
UTSW |
12 |
104,307,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R4916:Serpina3k
|
UTSW |
12 |
104,309,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R4999:Serpina3k
|
UTSW |
12 |
104,307,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R5053:Serpina3k
|
UTSW |
12 |
104,309,473 (GRCm39) |
critical splice donor site |
probably null |
|
R6300:Serpina3k
|
UTSW |
12 |
104,306,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R6343:Serpina3k
|
UTSW |
12 |
104,311,562 (GRCm39) |
missense |
probably benign |
|
R6851:Serpina3k
|
UTSW |
12 |
104,311,625 (GRCm39) |
missense |
probably benign |
0.00 |
R6858:Serpina3k
|
UTSW |
12 |
104,311,504 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6872:Serpina3k
|
UTSW |
12 |
104,310,519 (GRCm39) |
missense |
probably benign |
0.25 |
R6992:Serpina3k
|
UTSW |
12 |
104,307,366 (GRCm39) |
missense |
probably benign |
0.00 |
R7025:Serpina3k
|
UTSW |
12 |
104,307,401 (GRCm39) |
missense |
probably benign |
0.01 |
R7050:Serpina3k
|
UTSW |
12 |
104,307,403 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7238:Serpina3k
|
UTSW |
12 |
104,309,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R7240:Serpina3k
|
UTSW |
12 |
104,306,861 (GRCm39) |
missense |
probably benign |
0.05 |
R7469:Serpina3k
|
UTSW |
12 |
104,311,594 (GRCm39) |
missense |
not run |
|
R8837:Serpina3k
|
UTSW |
12 |
104,309,292 (GRCm39) |
missense |
probably benign |
0.00 |
R9025:Serpina3k
|
UTSW |
12 |
104,307,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R9497:Serpina3k
|
UTSW |
12 |
104,309,430 (GRCm39) |
missense |
probably benign |
0.01 |
X0019:Serpina3k
|
UTSW |
12 |
104,306,834 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2016-08-02 |