Incidental Mutation 'IGL01123:Serpina1f'
| ID |
52481 |
| 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 # |
IGL01123
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
103654303-103661788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103660265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 6
(S6P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021490]
[ENSMUST00000117053]
[ENSMUST00000118101]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021490
AA Change: S6P
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021490
Gene: ENSMUSG00000021081
AA Change: S6P
| 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: S6P
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112533
Gene: ENSMUSG00000021081
AA Change: S6P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
SERPIN
|
53 |
354 |
1.23e-51 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118101
AA Change: S6P
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113736
Gene: ENSMUSG00000021081
AA Change: S6P
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
G |
T |
10: 28,849,934 (GRCm39) |
D167E |
probably damaging |
Het |
| Aadat |
A |
T |
8: 60,979,648 (GRCm39) |
E170V |
probably benign |
Het |
| Acsf2 |
T |
C |
11: 94,461,276 (GRCm39) |
E300G |
probably benign |
Het |
| Agbl3 |
C |
T |
6: 34,823,911 (GRCm39) |
Q859* |
probably null |
Het |
| Arhgap11a |
T |
C |
2: 113,665,118 (GRCm39) |
|
probably benign |
Het |
| Arhgef40 |
C |
A |
14: 52,231,803 (GRCm39) |
Q730K |
probably damaging |
Het |
| Armc3 |
C |
T |
2: 19,206,616 (GRCm39) |
P13L |
possibly damaging |
Het |
| B3gnt2 |
T |
A |
11: 22,786,490 (GRCm39) |
T233S |
probably benign |
Het |
| Bnc1 |
G |
A |
7: 81,623,455 (GRCm39) |
Q591* |
probably null |
Het |
| Bsn |
A |
T |
9: 107,993,185 (GRCm39) |
F856I |
probably damaging |
Het |
| CK137956 |
T |
A |
4: 127,829,643 (GRCm39) |
T558S |
probably benign |
Het |
| Coq8b |
G |
A |
7: 26,939,509 (GRCm39) |
V180I |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 17,584,944 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Dhx37 |
A |
G |
5: 125,496,152 (GRCm39) |
S769P |
possibly damaging |
Het |
| Diras1 |
T |
A |
10: 80,858,249 (GRCm39) |
M1L |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,404,438 (GRCm39) |
W81R |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,011,418 (GRCm39) |
I2173L |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,237,153 (GRCm39) |
T617A |
possibly damaging |
Het |
| Gabrq |
G |
A |
X: 71,880,439 (GRCm39) |
D311N |
probably benign |
Het |
| Isl2 |
G |
T |
9: 55,452,746 (GRCm39) |
G335C |
probably damaging |
Het |
| Kbtbd7 |
T |
C |
14: 79,666,052 (GRCm39) |
V628A |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,735,029 (GRCm39) |
M5378V |
unknown |
Het |
| Lrrc23 |
G |
T |
6: 124,755,782 (GRCm39) |
D75E |
probably benign |
Het |
| Mab21l3 |
G |
A |
3: 101,742,446 (GRCm39) |
T38M |
probably benign |
Het |
| Matn1 |
T |
C |
4: 130,677,322 (GRCm39) |
I177T |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,537,494 (GRCm39) |
S60P |
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,440,946 (GRCm39) |
E278G |
probably benign |
Het |
| Nsun6 |
T |
C |
2: 15,053,789 (GRCm39) |
I7V |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,887,076 (GRCm39) |
S492T |
probably benign |
Het |
| Pakap |
C |
T |
4: 57,757,627 (GRCm39) |
Q188* |
probably null |
Het |
| Pom121 |
A |
T |
5: 135,420,560 (GRCm39) |
V287D |
unknown |
Het |
| Ptprq |
A |
T |
10: 107,522,079 (GRCm39) |
F624Y |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,024,222 (GRCm39) |
T178A |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,441,424 (GRCm39) |
N473S |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,996,905 (GRCm39) |
Y1256N |
probably damaging |
Het |
| Scpep1 |
T |
C |
11: 88,832,154 (GRCm39) |
N192S |
possibly damaging |
Het |
| Sgca |
T |
A |
11: 94,863,113 (GRCm39) |
Q80L |
probably damaging |
Het |
| Skint6 |
A |
G |
4: 112,661,879 (GRCm39) |
L1235P |
possibly damaging |
Het |
| Slc23a2 |
A |
C |
2: 131,898,736 (GRCm39) |
N600K |
probably benign |
Het |
| Spata20 |
T |
C |
11: 94,374,221 (GRCm39) |
T350A |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,294,921 (GRCm39) |
Y1227* |
probably null |
Het |
| Unc13c |
T |
C |
9: 73,840,479 (GRCm39) |
Y124C |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,913,845 (GRCm39) |
T416I |
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,579,571 (GRCm39) |
W116R |
probably benign |
Het |
| Vps4a |
T |
C |
8: 107,765,851 (GRCm39) |
|
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,629,030 (GRCm39) |
V1469A |
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 |
|
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 |
2013-06-21 |
Incidental Mutation