Incidental Mutation 'IGL03025:Serpina1f'
ID |
408117 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpina1f
|
Ensembl Gene |
ENSMUSG00000021081 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 1F |
Synonyms |
0610012A11Rik, epserin, Serpina2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03025
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
103654303-103661788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 103659805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 159
(D159V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113736
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021490]
[ENSMUST00000117053]
[ENSMUST00000118101]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021490
AA Change: D159V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000021490 Gene: ENSMUSG00000021081 AA Change: D159V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
SERPIN
|
53 |
409 |
7.69e-85 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117053
AA Change: D159V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112533 Gene: ENSMUSG00000021081 AA Change: D159V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
SERPIN
|
53 |
354 |
1.23e-51 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118101
AA Change: D159V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113736 Gene: ENSMUSG00000021081 AA Change: D159V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
SERPIN
|
53 |
409 |
7.69e-85 |
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 |
4921509C19Rik |
T |
C |
2: 151,315,405 (GRCm39) |
N91S |
possibly damaging |
Het |
Adora1 |
T |
C |
1: 134,130,807 (GRCm39) |
Y288C |
probably damaging |
Het |
Avil |
A |
T |
10: 126,849,446 (GRCm39) |
T581S |
probably benign |
Het |
Cacna1h |
C |
T |
17: 25,651,868 (GRCm39) |
W92* |
probably null |
Het |
Calr3 |
A |
C |
8: 73,188,735 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
T |
C |
2: 120,561,222 (GRCm39) |
E181G |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
Cnga1 |
T |
A |
5: 72,762,756 (GRCm39) |
I253F |
probably benign |
Het |
Cngb3 |
T |
G |
4: 19,283,498 (GRCm39) |
|
probably benign |
Het |
Cstf3 |
T |
A |
2: 104,439,276 (GRCm39) |
Y30N |
possibly damaging |
Het |
Cyp2a12 |
T |
A |
7: 26,730,631 (GRCm39) |
S199T |
probably benign |
Het |
Dlg1 |
A |
G |
16: 31,624,545 (GRCm39) |
I412V |
probably benign |
Het |
Fasn |
C |
T |
11: 120,708,974 (GRCm39) |
V570M |
probably benign |
Het |
Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
Frmd5 |
T |
A |
2: 121,383,825 (GRCm39) |
M369L |
probably benign |
Het |
Ftdc2 |
A |
C |
16: 58,458,076 (GRCm39) |
I75S |
probably damaging |
Het |
Gatb |
T |
C |
3: 85,483,181 (GRCm39) |
W63R |
probably damaging |
Het |
Gga1 |
G |
T |
15: 78,772,382 (GRCm39) |
L227F |
probably damaging |
Het |
Itgb1 |
A |
G |
8: 129,449,065 (GRCm39) |
N557S |
possibly damaging |
Het |
Ltf |
T |
C |
9: 110,854,169 (GRCm39) |
V328A |
possibly damaging |
Het |
Nefh |
T |
C |
11: 4,895,289 (GRCm39) |
E300G |
probably damaging |
Het |
Nrip1 |
A |
G |
16: 76,091,353 (GRCm39) |
V68A |
probably benign |
Het |
Or1m1 |
T |
C |
9: 18,666,665 (GRCm39) |
N89D |
probably benign |
Het |
Pcdhb13 |
T |
G |
18: 37,575,817 (GRCm39) |
V65G |
probably damaging |
Het |
Pcdhb4 |
A |
T |
18: 37,443,030 (GRCm39) |
Y780F |
possibly damaging |
Het |
Plcd3 |
C |
T |
11: 102,965,724 (GRCm39) |
E503K |
probably benign |
Het |
Rbm6 |
T |
A |
9: 107,651,918 (GRCm39) |
D903V |
possibly damaging |
Het |
Rnf133 |
A |
G |
6: 23,649,134 (GRCm39) |
M265T |
probably benign |
Het |
Sbf1 |
T |
C |
15: 89,173,848 (GRCm39) |
T1775A |
probably damaging |
Het |
Skap1 |
C |
A |
11: 96,593,508 (GRCm39) |
S118R |
probably damaging |
Het |
Slc17a9 |
C |
A |
2: 180,381,609 (GRCm39) |
|
probably null |
Het |
Slc30a5 |
A |
G |
13: 100,950,395 (GRCm39) |
S231P |
probably damaging |
Het |
Stac2 |
A |
G |
11: 97,934,548 (GRCm39) |
F52S |
probably damaging |
Het |
Them7 |
T |
C |
2: 105,128,150 (GRCm39) |
S44P |
probably benign |
Het |
Tnmd |
A |
G |
X: 132,766,162 (GRCm39) |
|
probably benign |
Het |
Trdmt1 |
A |
T |
2: 13,528,246 (GRCm39) |
I105N |
probably damaging |
Het |
Trpc1 |
C |
T |
9: 95,592,313 (GRCm39) |
G554E |
probably damaging |
Het |
Vmn1r37 |
A |
G |
6: 66,708,740 (GRCm39) |
Y85C |
probably benign |
Het |
Zim1 |
T |
C |
7: 6,685,058 (GRCm39) |
T131A |
probably benign |
Het |
|
Other mutations in Serpina1f |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00477:Serpina1f
|
APN |
12 |
103,658,128 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00757:Serpina1f
|
APN |
12 |
103,659,721 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01123:Serpina1f
|
APN |
12 |
103,660,265 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL01695:Serpina1f
|
APN |
12 |
103,659,943 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01791:Serpina1f
|
APN |
12 |
103,659,761 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01868:Serpina1f
|
APN |
12 |
103,659,704 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02135:Serpina1f
|
APN |
12 |
103,659,974 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03331:Serpina1f
|
APN |
12 |
103,657,150 (GRCm39) |
missense |
probably benign |
0.04 |
R0084:Serpina1f
|
UTSW |
12 |
103,659,847 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0492:Serpina1f
|
UTSW |
12 |
103,659,826 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0893:Serpina1f
|
UTSW |
12 |
103,660,094 (GRCm39) |
missense |
probably damaging |
0.97 |
R2202:Serpina1f
|
UTSW |
12 |
103,659,655 (GRCm39) |
missense |
possibly damaging |
0.75 |
R3974:Serpina1f
|
UTSW |
12 |
103,659,830 (GRCm39) |
nonsense |
probably null |
|
R4179:Serpina1f
|
UTSW |
12 |
103,658,179 (GRCm39) |
missense |
probably benign |
0.08 |
R4736:Serpina1f
|
UTSW |
12 |
103,659,805 (GRCm39) |
missense |
probably damaging |
0.97 |
R4948:Serpina1f
|
UTSW |
12 |
103,656,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R5092:Serpina1f
|
UTSW |
12 |
103,659,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R5416:Serpina1f
|
UTSW |
12 |
103,660,203 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5887:Serpina1f
|
UTSW |
12 |
103,659,890 (GRCm39) |
nonsense |
probably null |
|
R5887:Serpina1f
|
UTSW |
12 |
103,656,046 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6413:Serpina1f
|
UTSW |
12 |
103,659,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R6566:Serpina1f
|
UTSW |
12 |
103,659,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R7371:Serpina1f
|
UTSW |
12 |
103,656,086 (GRCm39) |
missense |
probably damaging |
0.96 |
R7419:Serpina1f
|
UTSW |
12 |
103,656,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R7527:Serpina1f
|
UTSW |
12 |
103,658,167 (GRCm39) |
missense |
probably benign |
0.16 |
R7943:Serpina1f
|
UTSW |
12 |
103,659,949 (GRCm39) |
missense |
probably damaging |
0.98 |
R8249:Serpina1f
|
UTSW |
12 |
103,660,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R8270:Serpina1f
|
UTSW |
12 |
103,659,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R8810:Serpina1f
|
UTSW |
12 |
103,660,240 (GRCm39) |
missense |
probably benign |
0.00 |
R8962:Serpina1f
|
UTSW |
12 |
103,656,131 (GRCm39) |
missense |
probably benign |
0.01 |
R9657:Serpina1f
|
UTSW |
12 |
103,656,050 (GRCm39) |
nonsense |
probably null |
|
Z1176:Serpina1f
|
UTSW |
12 |
103,658,125 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Posted On |
2016-08-02 |