Incidental Mutation 'IGL03269:Serpina3k'
ID |
415186 |
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 # |
IGL03269
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
104304745-104311998 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104306780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 4
(I4T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043058]
[ENSMUST00000101078]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043058
AA Change: I4T
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000042095 Gene: ENSMUSG00000058207 AA Change: I4T
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl2 |
T |
A |
2: 26,998,367 (GRCm39) |
C930* |
probably null |
Het |
Ankar |
A |
T |
1: 72,704,360 (GRCm39) |
V854E |
probably damaging |
Het |
Ceacam3 |
T |
A |
7: 16,895,767 (GRCm39) |
L579Q |
probably damaging |
Het |
Clip2 |
G |
T |
5: 134,545,748 (GRCm39) |
H314Q |
probably damaging |
Het |
Fbxo28 |
A |
G |
1: 182,144,583 (GRCm39) |
V327A |
possibly damaging |
Het |
Gdap1 |
T |
A |
1: 17,231,729 (GRCm39) |
F358Y |
probably benign |
Het |
Ift70a2 |
T |
C |
2: 75,808,479 (GRCm39) |
D11G |
possibly damaging |
Het |
Ighv1-18 |
T |
C |
12: 114,646,466 (GRCm39) |
Y46C |
probably damaging |
Het |
Il1rl2 |
T |
A |
1: 40,404,472 (GRCm39) |
F531Y |
probably damaging |
Het |
Irf6 |
A |
G |
1: 192,844,906 (GRCm39) |
|
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,248,409 (GRCm39) |
T1632A |
probably damaging |
Het |
Odad3 |
A |
G |
9: 21,909,339 (GRCm39) |
|
probably null |
Het |
Or4l1 |
T |
A |
14: 50,166,165 (GRCm39) |
T279S |
probably damaging |
Het |
Or5b3 |
T |
A |
19: 13,388,792 (GRCm39) |
N286K |
probably damaging |
Het |
Or8b43 |
A |
G |
9: 38,360,197 (GRCm39) |
T10A |
probably benign |
Het |
Osgepl1 |
C |
A |
1: 53,360,271 (GRCm39) |
Y332* |
probably null |
Het |
Pibf1 |
G |
A |
14: 99,425,171 (GRCm39) |
A553T |
probably damaging |
Het |
Prpf38b |
A |
G |
3: 108,812,557 (GRCm39) |
F219L |
probably benign |
Het |
Pwp1 |
C |
A |
10: 85,718,768 (GRCm39) |
Q312K |
probably damaging |
Het |
Rnf17 |
T |
C |
14: 56,665,403 (GRCm39) |
V185A |
possibly damaging |
Het |
Slc33a1 |
A |
G |
3: 63,871,178 (GRCm39) |
V145A |
probably damaging |
Het |
Slco3a1 |
T |
C |
7: 73,968,280 (GRCm39) |
D480G |
possibly damaging |
Het |
Tdpoz4 |
G |
A |
3: 93,704,144 (GRCm39) |
C147Y |
probably damaging |
Het |
Tlr4 |
C |
A |
4: 66,759,033 (GRCm39) |
P609T |
probably damaging |
Het |
Trgv4 |
T |
A |
13: 19,369,622 (GRCm39) |
I122K |
probably damaging |
Het |
Unc79 |
A |
G |
12: 103,054,936 (GRCm39) |
K927E |
probably damaging |
Het |
Vmn1r71 |
G |
A |
7: 10,482,571 (GRCm39) |
T39I |
possibly damaging |
Het |
Vmn2r9 |
A |
G |
5: 108,995,820 (GRCm39) |
L276P |
probably damaging |
Het |
Zfp335 |
C |
A |
2: 164,742,274 (GRCm39) |
R570L |
probably damaging |
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 |
|
IGL02981:Serpina3k
|
APN |
12 |
104,307,250 (GRCm39) |
missense |
probably benign |
0.02 |
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 |