Incidental Mutation 'IGL03331:Serpina1f'
ID |
416860 |
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 # |
IGL03331
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
103654303-103661788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103657150 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 307
(I307M)
|
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 benign
Transcript: ENSMUST00000021490
AA Change: I307M
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000021490 Gene: ENSMUSG00000021081 AA Change: I307M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
SERPIN
|
53 |
409 |
7.69e-85 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117053
AA Change: I252M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112533 Gene: ENSMUSG00000021081 AA Change: I252M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
SERPIN
|
53 |
354 |
1.23e-51 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118101
AA Change: I307M
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000113736 Gene: ENSMUSG00000021081 AA Change: I307M
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap11 |
C |
A |
14: 78,751,305 (GRCm39) |
D361Y |
probably damaging |
Het |
Arhgap10 |
T |
C |
8: 78,146,711 (GRCm39) |
N231S |
probably damaging |
Het |
Asb15 |
A |
T |
6: 24,556,523 (GRCm39) |
D6V |
possibly damaging |
Het |
C1qb |
G |
A |
4: 136,607,604 (GRCm39) |
A253V |
probably damaging |
Het |
Ccdc178 |
G |
T |
18: 21,944,640 (GRCm39) |
|
probably null |
Het |
Chst15 |
A |
G |
7: 131,864,442 (GRCm39) |
L387P |
probably damaging |
Het |
Clca3b |
T |
A |
3: 144,533,724 (GRCm39) |
E550D |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,420,086 (GRCm39) |
K3795E |
probably damaging |
Het |
Dppa2 |
T |
C |
16: 48,134,242 (GRCm39) |
|
probably benign |
Het |
Epb41l5 |
T |
C |
1: 119,545,149 (GRCm39) |
Y220C |
probably damaging |
Het |
Fkbpl |
C |
T |
17: 34,864,661 (GRCm39) |
T143I |
probably damaging |
Het |
Gbe1 |
T |
G |
16: 70,230,466 (GRCm39) |
Y155D |
probably damaging |
Het |
Gm1979 |
T |
C |
5: 26,207,008 (GRCm39) |
K69R |
probably damaging |
Het |
Gna14 |
G |
A |
19: 16,586,832 (GRCm39) |
V336M |
probably damaging |
Het |
Gpr37 |
A |
G |
6: 25,669,728 (GRCm39) |
V372A |
probably benign |
Het |
H2bc12 |
T |
C |
13: 22,220,443 (GRCm39) |
|
probably benign |
Het |
Herc2 |
C |
A |
7: 55,785,015 (GRCm39) |
|
probably benign |
Het |
Krt20 |
T |
C |
11: 99,326,256 (GRCm39) |
|
probably null |
Het |
Lman1 |
T |
C |
18: 66,126,275 (GRCm39) |
T284A |
probably benign |
Het |
Matn2 |
A |
T |
15: 34,345,503 (GRCm39) |
D170V |
probably damaging |
Het |
Morc1 |
C |
A |
16: 48,432,731 (GRCm39) |
|
probably benign |
Het |
Necap1 |
T |
A |
6: 122,857,376 (GRCm39) |
S34T |
probably benign |
Het |
Nt5c3b |
T |
C |
11: 100,327,041 (GRCm39) |
Y85C |
probably damaging |
Het |
Or2t6 |
C |
A |
14: 14,176,017 (GRCm38) |
A22S |
probably benign |
Het |
Or5b102 |
T |
A |
19: 13,041,231 (GRCm39) |
L152H |
probably damaging |
Het |
Papln |
A |
G |
12: 83,830,435 (GRCm39) |
M1016V |
probably benign |
Het |
Pld1 |
T |
C |
3: 28,139,994 (GRCm39) |
F605L |
probably damaging |
Het |
Rbms2 |
T |
A |
10: 127,969,504 (GRCm39) |
|
probably benign |
Het |
Rps6kb1 |
A |
T |
11: 86,423,656 (GRCm39) |
V108E |
probably damaging |
Het |
Scap |
T |
C |
9: 110,209,304 (GRCm39) |
|
probably null |
Het |
Tchh |
A |
G |
3: 93,350,725 (GRCm39) |
D55G |
probably damaging |
Het |
Tnfaip3 |
G |
T |
10: 18,887,349 (GRCm39) |
Q59K |
possibly damaging |
Het |
Vcan |
A |
G |
13: 89,810,051 (GRCm39) |
C2287R |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,445,428 (GRCm39) |
N766D |
probably damaging |
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 |
IGL03025:Serpina1f
|
APN |
12 |
103,659,805 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |