Incidental Mutation 'IGL03145:Serpina3f'
| ID |
410849 |
| 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 # |
IGL03145
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
104180803-104187388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104183716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 193
(M193L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101080]
[ENSMUST00000121337]
[ENSMUST00000167049]
|
| AlphaFold |
Q80X76 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101080
AA Change: M193L
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000098641
Gene: ENSMUSG00000066363
AA Change: M193L
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
46 |
408 |
1.58e-186 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121337
AA Change: M193L
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113945
Gene: ENSMUSG00000066363
AA Change: M193L
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
46 |
408 |
1.58e-186 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167049
AA Change: M193L
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000126520
Gene: ENSMUSG00000066363
AA Change: M193L
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
A |
G |
10: 21,469,337 (GRCm39) |
D17G |
probably damaging |
Het |
| Adam39 |
C |
T |
8: 41,277,695 (GRCm39) |
P29S |
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,874,880 (GRCm39) |
K434E |
possibly damaging |
Het |
| Akap7 |
T |
C |
10: 25,115,565 (GRCm39) |
T187A |
probably damaging |
Het |
| Atp7b |
A |
C |
8: 22,508,159 (GRCm39) |
I479S |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,212,593 (GRCm39) |
E1606V |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,300,755 (GRCm39) |
S530G |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,727,040 (GRCm39) |
Y228H |
probably benign |
Het |
| Cybb |
C |
A |
X: 9,319,892 (GRCm39) |
E203* |
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,018,037 (GRCm39) |
M3594K |
probably damaging |
Het |
| Galnt14 |
C |
A |
17: 73,811,903 (GRCm39) |
Q439H |
possibly damaging |
Het |
| Gck |
T |
A |
11: 5,859,093 (GRCm39) |
D158V |
probably damaging |
Het |
| Gm5624 |
A |
G |
14: 44,798,222 (GRCm39) |
M85T |
possibly damaging |
Het |
| Hgsnat |
A |
T |
8: 26,436,480 (GRCm39) |
N557K |
probably damaging |
Het |
| Idua |
A |
G |
5: 108,829,362 (GRCm39) |
T388A |
probably benign |
Het |
| Itgam |
A |
G |
7: 127,712,191 (GRCm39) |
D692G |
probably benign |
Het |
| Lrrtm3 |
A |
G |
10: 63,924,799 (GRCm39) |
Y123H |
probably benign |
Het |
| Mccc1 |
C |
T |
3: 36,022,595 (GRCm39) |
R566H |
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,220,802 (GRCm39) |
L999Q |
probably damaging |
Het |
| Myo6 |
T |
G |
9: 80,207,947 (GRCm39) |
Y1146* |
probably null |
Het |
| Nr3c1 |
C |
A |
18: 39,619,313 (GRCm39) |
G325W |
probably damaging |
Het |
| Or2r11 |
A |
G |
6: 42,437,434 (GRCm39) |
V173A |
probably benign |
Het |
| Or5p72 |
T |
A |
7: 108,021,806 (GRCm39) |
H9Q |
probably benign |
Het |
| Or7e170 |
T |
A |
9: 19,794,735 (GRCm39) |
I289F |
possibly damaging |
Het |
| Phf1 |
T |
C |
17: 27,153,344 (GRCm39) |
|
probably null |
Het |
| Piezo1 |
T |
C |
8: 123,209,660 (GRCm39) |
T2349A |
probably benign |
Het |
| Pih1d1 |
T |
C |
7: 44,808,545 (GRCm39) |
|
probably null |
Het |
| Pold3 |
A |
G |
7: 99,745,719 (GRCm39) |
S145P |
probably damaging |
Het |
| Prpf38b |
G |
T |
3: 108,811,261 (GRCm39) |
|
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,521,521 (GRCm39) |
M545K |
probably benign |
Het |
| Safb |
T |
C |
17: 56,912,287 (GRCm39) |
Y802H |
probably damaging |
Het |
| Slc43a2 |
G |
A |
11: 75,459,263 (GRCm39) |
V432M |
probably benign |
Het |
| Spata2l |
T |
C |
8: 123,960,075 (GRCm39) |
R405G |
possibly damaging |
Het |
| Sv2c |
A |
G |
13: 96,125,606 (GRCm39) |
V377A |
probably damaging |
Het |
| Tbc1d15 |
C |
T |
10: 115,038,421 (GRCm39) |
M597I |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,492,175 (GRCm39) |
R1036S |
probably damaging |
Het |
| Tjp3 |
A |
G |
10: 81,119,522 (GRCm39) |
Y15H |
probably benign |
Het |
| Tkt |
A |
G |
14: 30,282,645 (GRCm39) |
|
probably benign |
Het |
| Tpm2 |
T |
C |
4: 43,519,447 (GRCm39) |
E145G |
probably damaging |
Het |
| Trib2 |
G |
A |
12: 15,859,932 (GRCm39) |
H110Y |
probably damaging |
Het |
| Trim60 |
A |
T |
8: 65,453,224 (GRCm39) |
S342T |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,434,835 (GRCm39) |
E542G |
probably damaging |
Het |
| Usp36 |
T |
C |
11: 118,170,067 (GRCm39) |
D218G |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,227,846 (GRCm39) |
L1921P |
probably damaging |
Het |
| Zfp983 |
G |
T |
17: 21,877,924 (GRCm39) |
M42I |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation