Incidental Mutation 'IGL00477:Serpina1f'
| ID |
4369 |
| 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 # |
IGL00477
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
103654303-103661788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103658128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 259
(M259T)
|
| 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: M259T
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000021490
Gene: ENSMUSG00000021081
AA Change: M259T
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112533
Gene: ENSMUSG00000021081
| 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: M259T
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000113736
Gene: ENSMUSG00000021081
AA Change: M259T
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411G06Rik |
T |
A |
10: 51,632,867 (GRCm39) |
|
noncoding transcript |
Het |
| Bmal2 |
A |
G |
6: 146,728,827 (GRCm39) |
|
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 100,141,468 (GRCm39) |
T575A |
probably damaging |
Het |
| Dapl1 |
T |
C |
2: 59,324,832 (GRCm39) |
S28P |
probably benign |
Het |
| Dnmbp |
T |
A |
19: 43,890,918 (GRCm39) |
E283V |
probably damaging |
Het |
| Fastkd3 |
G |
A |
13: 68,732,647 (GRCm39) |
V323I |
possibly damaging |
Het |
| Gtpbp2 |
G |
T |
17: 46,479,180 (GRCm39) |
G581C |
probably damaging |
Het |
| Igsf5 |
A |
G |
16: 96,192,220 (GRCm39) |
E173G |
possibly damaging |
Het |
| Mat1a |
T |
C |
14: 40,827,651 (GRCm39) |
|
probably benign |
Het |
| Mmp1a |
T |
A |
9: 7,476,260 (GRCm39) |
D452E |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,150,388 (GRCm39) |
M879K |
probably benign |
Het |
| Plce1 |
A |
T |
19: 38,513,576 (GRCm39) |
T292S |
probably benign |
Het |
| Qrsl1 |
G |
T |
10: 43,752,488 (GRCm39) |
T445N |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,577,138 (GRCm39) |
|
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,818,301 (GRCm39) |
V543A |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,418,879 (GRCm39) |
T3009I |
probably damaging |
Het |
| Usp7 |
A |
T |
16: 8,515,839 (GRCm39) |
I661N |
probably damaging |
Het |
| Virma |
T |
G |
4: 11,519,006 (GRCm39) |
L751R |
probably damaging |
Het |
|
| Other mutations in Serpina1f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation