Incidental Mutation 'IGL02001:Serpina3f'
| ID |
183048 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpina3f
|
| Ensembl Gene |
ENSMUSG00000066363 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3F |
| Synonyms |
2A1, alpha-1 antiproteinasin, antitrypsin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL02001
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
104180803-104187388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104185725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 310
(Y310C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101080]
[ENSMUST00000121337]
[ENSMUST00000167049]
|
| AlphaFold |
Q80X76 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101080
AA Change: Y310C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098641
Gene: ENSMUSG00000066363
AA Change: Y310C
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
46 |
408 |
1.58e-186 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121337
AA Change: Y310C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113945
Gene: ENSMUSG00000066363
AA Change: Y310C
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
46 |
408 |
1.58e-186 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167049
AA Change: Y310C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126520
Gene: ENSMUSG00000066363
AA Change: Y310C
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
46 |
408 |
1.58e-186 |
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 |
|---|
| A530064D06Rik |
T |
C |
17: 48,473,842 (GRCm39) |
N25S |
possibly damaging |
Het |
| Als2 |
A |
T |
1: 59,219,347 (GRCm39) |
|
probably benign |
Het |
| Asah2 |
T |
A |
19: 32,020,939 (GRCm39) |
K255* |
probably null |
Het |
| Bclaf1 |
A |
G |
10: 20,198,762 (GRCm39) |
|
probably benign |
Het |
| Bpifb2 |
T |
C |
2: 153,733,195 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
G |
A |
9: 107,399,315 (GRCm39) |
V669I |
probably benign |
Het |
| Cep89 |
T |
A |
7: 35,102,432 (GRCm39) |
|
probably benign |
Het |
| Chl1 |
T |
G |
6: 103,619,017 (GRCm39) |
L29R |
possibly damaging |
Het |
| Defb2 |
T |
C |
8: 22,333,353 (GRCm39) |
Y43H |
probably damaging |
Het |
| Disc1 |
A |
G |
8: 125,977,781 (GRCm39) |
Y799C |
probably damaging |
Het |
| Egf |
G |
T |
3: 129,510,417 (GRCm39) |
A34E |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,203,071 (GRCm39) |
M1K |
probably null |
Het |
| Gprin1 |
T |
C |
13: 54,887,005 (GRCm39) |
E423G |
probably damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,918,375 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,798,164 (GRCm39) |
E925G |
probably damaging |
Het |
| Kctd16 |
A |
T |
18: 40,391,733 (GRCm39) |
K107I |
possibly damaging |
Het |
| Lrig1 |
T |
C |
6: 94,584,305 (GRCm39) |
K913R |
probably benign |
Het |
| Marchf7 |
A |
G |
2: 60,065,235 (GRCm39) |
T504A |
possibly damaging |
Het |
| Mrpl11 |
C |
T |
19: 5,013,680 (GRCm39) |
R154* |
probably null |
Het |
| Nlrp4a |
T |
C |
7: 26,149,394 (GRCm39) |
F334L |
probably benign |
Het |
| Or2z2 |
C |
T |
11: 58,346,335 (GRCm39) |
V147M |
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,746 (GRCm39) |
T79S |
probably benign |
Het |
| Parp6 |
A |
G |
9: 59,557,244 (GRCm39) |
T610A |
possibly damaging |
Het |
| Pcdhb15 |
T |
G |
18: 37,607,091 (GRCm39) |
L108V |
probably benign |
Het |
| Pomgnt1 |
G |
T |
4: 116,010,105 (GRCm39) |
E156* |
probably null |
Het |
| Psma2 |
T |
G |
13: 14,798,192 (GRCm39) |
F105V |
possibly damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,055,396 (GRCm39) |
|
probably benign |
Het |
| Sclt1 |
A |
T |
3: 41,636,156 (GRCm39) |
S282T |
possibly damaging |
Het |
| Semp2l2b |
A |
T |
10: 21,943,176 (GRCm39) |
M268K |
probably benign |
Het |
| Sh3pxd2a |
T |
C |
19: 47,261,886 (GRCm39) |
K331R |
probably damaging |
Het |
| Tectb |
T |
C |
19: 55,178,027 (GRCm39) |
F183L |
possibly damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,403,388 (GRCm39) |
H327R |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,333,523 (GRCm39) |
D89E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,587,128 (GRCm39) |
S21623L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,612,282 (GRCm39) |
L15489P |
probably damaging |
Het |
| Vdac3-ps1 |
A |
G |
13: 18,205,973 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r69 |
T |
A |
7: 85,056,434 (GRCm39) |
Q568L |
probably benign |
Het |
| Wdr36 |
T |
A |
18: 32,985,941 (GRCm39) |
D548E |
probably damaging |
Het |
| Zfand4 |
T |
A |
6: 116,250,613 (GRCm39) |
H14Q |
probably benign |
Het |
|
| Other mutations in Serpina3f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00645:Serpina3f
|
APN |
12 |
104,183,599 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01375:Serpina3f
|
APN |
12 |
104,186,735 (GRCm39) |
missense |
unknown |
|
|
IGL01575:Serpina3f
|
APN |
12 |
104,184,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01712:Serpina3f
|
APN |
12 |
104,184,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02882:Serpina3f
|
APN |
12 |
104,183,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03145:Serpina3f
|
APN |
12 |
104,183,716 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0158:Serpina3f
|
UTSW |
12 |
104,183,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0739:Serpina3f
|
UTSW |
12 |
104,184,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Serpina3f
|
UTSW |
12 |
104,183,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Serpina3f
|
UTSW |
12 |
104,183,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2010:Serpina3f
|
UTSW |
12 |
104,183,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2356:Serpina3f
|
UTSW |
12 |
104,183,626 (GRCm39) |
nonsense |
probably null |
|
|
R3926:Serpina3f
|
UTSW |
12 |
104,185,740 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3959:Serpina3f
|
UTSW |
12 |
104,183,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4619:Serpina3f
|
UTSW |
12 |
104,183,549 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4765:Serpina3f
|
UTSW |
12 |
104,185,690 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4977:Serpina3f
|
UTSW |
12 |
104,183,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4994:Serpina3f
|
UTSW |
12 |
104,186,615 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5432:Serpina3f
|
UTSW |
12 |
104,186,577 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5733:Serpina3f
|
UTSW |
12 |
104,183,182 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7670:Serpina3f
|
UTSW |
12 |
104,183,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7727:Serpina3f
|
UTSW |
12 |
104,184,477 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7754:Serpina3f
|
UTSW |
12 |
104,183,565 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8150:Serpina3f
|
UTSW |
12 |
104,185,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Serpina3f
|
UTSW |
12 |
104,183,702 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8801:Serpina3f
|
UTSW |
12 |
104,185,737 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8974:Serpina3f
|
UTSW |
12 |
104,183,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9223:Serpina3f
|
UTSW |
12 |
104,183,444 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9239:Serpina3f
|
UTSW |
12 |
104,184,710 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9623:Serpina3f
|
UTSW |
12 |
104,183,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9650:Serpina3f
|
UTSW |
12 |
104,186,519 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9726:Serpina3f
|
UTSW |
12 |
104,184,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Serpina3f
|
UTSW |
12 |
104,183,530 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2014-05-07 |
Incidental Mutation