Incidental Mutation 'IGL00645:Serpina3f'
ID |
13972 |
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: 0.052)
|
Stock # |
IGL00645
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
104180803-104187388 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104183599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 154
(F154L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113945
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101080]
[ENSMUST00000121337]
[ENSMUST00000167049]
|
AlphaFold |
Q80X76 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000101080
AA Change: F154L
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000098641 Gene: ENSMUSG00000066363 AA Change: F154L
Domain | Start | End | E-Value | Type |
SERPIN
|
46 |
408 |
1.58e-186 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121337
AA Change: F154L
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113945 Gene: ENSMUSG00000066363 AA Change: F154L
Domain | Start | End | E-Value | Type |
SERPIN
|
46 |
408 |
1.58e-186 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167049
AA Change: F154L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000126520 Gene: ENSMUSG00000066363 AA Change: F154L
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: 10 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c21 |
A |
G |
13: 4,626,312 (GRCm39) |
D112G |
probably damaging |
Het |
Cd2 |
T |
C |
3: 101,190,539 (GRCm39) |
N135D |
probably damaging |
Het |
Coq10b |
A |
G |
1: 55,100,468 (GRCm39) |
T51A |
probably benign |
Het |
Cst5 |
T |
A |
2: 149,251,899 (GRCm39) |
C125S |
probably damaging |
Het |
Fam135b |
A |
G |
15: 71,334,395 (GRCm39) |
V933A |
probably damaging |
Het |
Fbn1 |
A |
G |
2: 125,159,023 (GRCm39) |
|
probably benign |
Het |
Kcna10 |
G |
A |
3: 107,102,781 (GRCm39) |
E471K |
possibly damaging |
Het |
Msl1 |
T |
A |
11: 98,696,247 (GRCm39) |
C598S |
probably damaging |
Het |
Nup35 |
T |
A |
2: 80,485,176 (GRCm39) |
F192L |
probably damaging |
Het |
Sec16b |
T |
A |
1: 157,394,289 (GRCm39) |
V1026D |
probably damaging |
Het |
|
Other mutations in Serpina3f |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |