Incidental Mutation 'IGL01575:Serpina3f'
| ID |
91221 |
| 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 # |
IGL01575
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
104180803-104187388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 104184699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 281
(P281Q)
|
| 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: P281Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098641
Gene: ENSMUSG00000066363
AA Change: P281Q
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
46 |
408 |
1.58e-186 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121337
AA Change: P281Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113945
Gene: ENSMUSG00000066363
AA Change: P281Q
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
46 |
408 |
1.58e-186 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167049
AA Change: P281Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126520
Gene: ENSMUSG00000066363
AA Change: P281Q
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc2 |
C |
T |
2: 25,175,188 (GRCm39) |
|
probably benign |
Het |
| Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
| Boll |
A |
G |
1: 55,362,807 (GRCm39) |
|
probably null |
Het |
| Cngb1 |
G |
A |
8: 95,991,148 (GRCm39) |
P226S |
possibly damaging |
Het |
| Commd3 |
G |
A |
2: 18,679,528 (GRCm39) |
|
probably null |
Het |
| Ddx46 |
C |
T |
13: 55,801,996 (GRCm39) |
|
probably benign |
Het |
| Dmrtb1 |
A |
G |
4: 107,541,265 (GRCm39) |
I32T |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,466,979 (GRCm39) |
|
probably benign |
Het |
| Dppa5a |
A |
G |
9: 78,275,062 (GRCm39) |
I80T |
possibly damaging |
Het |
| Galntl6 |
T |
C |
8: 58,880,710 (GRCm39) |
|
probably benign |
Het |
| Hmgcr |
A |
G |
13: 96,793,103 (GRCm39) |
Y510H |
possibly damaging |
Het |
| Idua |
G |
T |
5: 108,829,973 (GRCm39) |
R505L |
possibly damaging |
Het |
| Ifna15 |
A |
G |
4: 88,476,044 (GRCm39) |
F147L |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,118,599 (GRCm39) |
S433P |
probably damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,077,523 (GRCm39) |
Y442H |
possibly damaging |
Het |
| Kmt2d |
A |
G |
15: 98,744,736 (GRCm39) |
|
probably benign |
Het |
| Mpp7 |
A |
G |
18: 7,403,365 (GRCm39) |
|
probably benign |
Het |
| Or14c39 |
T |
C |
7: 86,344,501 (GRCm39) |
V279A |
probably benign |
Het |
| Or5p64 |
A |
C |
7: 107,854,742 (GRCm39) |
V201G |
possibly damaging |
Het |
| Or6c75 |
A |
G |
10: 129,337,436 (GRCm39) |
I228V |
probably benign |
Het |
| Pam16l |
T |
C |
10: 43,400,411 (GRCm39) |
V55A |
probably benign |
Het |
| Phf14 |
T |
C |
6: 11,990,050 (GRCm39) |
L693S |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,792,102 (GRCm39) |
N1263S |
probably damaging |
Het |
| Rhbdl1 |
G |
T |
17: 26,055,112 (GRCm39) |
A32E |
possibly damaging |
Het |
| Samd9l |
A |
G |
6: 3,376,734 (GRCm39) |
S176P |
possibly damaging |
Het |
| Scn1a |
G |
T |
2: 66,103,580 (GRCm39) |
F1893L |
probably damaging |
Het |
| Slc35a1 |
G |
T |
4: 34,668,932 (GRCm39) |
Q294K |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,435,976 (GRCm39) |
S1154N |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,938,871 (GRCm39) |
S726P |
probably benign |
Het |
| Tiam2 |
A |
T |
17: 3,504,591 (GRCm39) |
E24V |
probably damaging |
Het |
| Tmf1 |
T |
C |
6: 97,152,897 (GRCm39) |
E392G |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,021,626 (GRCm39) |
V1089A |
probably damaging |
Het |
| Tspyl1 |
C |
A |
10: 34,159,086 (GRCm39) |
N270K |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,913,628 (GRCm39) |
V901D |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,224,031 (GRCm39) |
I764V |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,300,152 (GRCm39) |
V186A |
probably damaging |
Het |
| Zdhhc18 |
A |
G |
4: 133,341,210 (GRCm39) |
V221A |
probably damaging |
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 |
|
|
IGL01712:Serpina3f
|
APN |
12 |
104,184,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02001:Serpina3f
|
APN |
12 |
104,185,725 (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 |
2013-12-09 |
Incidental Mutation