Incidental Mutation 'IGL01311:Serpina3i'
| ID |
73670 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpina3i
|
| Ensembl Gene |
ENSMUSG00000079014 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3I |
| Synonyms |
alpha-1 antiproteinase, antitrypsin, 2B2, Gm6930 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01311
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
104229381-104235631 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104233946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 305
(S305P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109958]
|
| AlphaFold |
D3Z450 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109958
AA Change: S305P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105584
Gene: ENSMUSG00000079014
AA Change: S305P
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
46 |
407 |
8.45e-187 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109960
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
A |
T |
7: 101,037,343 (GRCm39) |
K457* |
probably null |
Het |
| Arhgef10 |
C |
A |
8: 15,041,054 (GRCm39) |
|
probably null |
Het |
| Becn1 |
C |
T |
11: 101,182,342 (GRCm39) |
G281S |
probably damaging |
Het |
| Borcs8 |
A |
G |
8: 70,617,818 (GRCm39) |
S59G |
probably damaging |
Het |
| Brd10 |
C |
T |
19: 29,731,420 (GRCm39) |
V531I |
probably benign |
Het |
| Capn5 |
C |
A |
7: 97,811,130 (GRCm39) |
R53L |
probably damaging |
Het |
| Cdk5 |
C |
T |
5: 24,624,593 (GRCm39) |
|
probably null |
Het |
| Cnksr1 |
A |
G |
4: 133,957,777 (GRCm39) |
L434P |
probably damaging |
Het |
| Col22a1 |
C |
T |
15: 71,845,486 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,667,299 (GRCm39) |
D811G |
probably damaging |
Het |
| Haus3 |
G |
A |
5: 34,324,988 (GRCm39) |
Q224* |
probably null |
Het |
| Jakmip2 |
A |
G |
18: 43,690,389 (GRCm39) |
|
probably benign |
Het |
| Jam3 |
T |
G |
9: 27,010,019 (GRCm39) |
T296P |
probably damaging |
Het |
| Kcnrg |
T |
C |
14: 61,849,274 (GRCm39) |
L245P |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,305,059 (GRCm39) |
L909P |
probably damaging |
Het |
| Klrc3 |
T |
C |
6: 129,618,375 (GRCm39) |
D136G |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,425,502 (GRCm39) |
R1450S |
unknown |
Het |
| Ltf |
T |
C |
9: 110,860,080 (GRCm39) |
|
probably benign |
Het |
| Meig1 |
A |
T |
2: 3,410,245 (GRCm39) |
V85D |
possibly damaging |
Het |
| Mrgprb2 |
T |
A |
7: 48,201,746 (GRCm39) |
E326D |
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,322,238 (GRCm39) |
D65V |
possibly damaging |
Het |
| Or4c100 |
T |
C |
2: 88,356,104 (GRCm39) |
F59S |
possibly damaging |
Het |
| Or52h7 |
T |
C |
7: 104,214,036 (GRCm39) |
Y203H |
probably damaging |
Het |
| Padi2 |
G |
A |
4: 140,644,948 (GRCm39) |
V61I |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,851,174 (GRCm39) |
S753G |
possibly damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,144,591 (GRCm39) |
S314P |
probably benign |
Het |
| Slc16a4 |
G |
T |
3: 107,199,821 (GRCm39) |
V23F |
possibly damaging |
Het |
| Slc25a34 |
G |
A |
4: 141,348,747 (GRCm39) |
T239I |
possibly damaging |
Het |
| Srebf2 |
T |
C |
15: 82,076,404 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,625,885 (GRCm39) |
V1355A |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,765,938 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,586,077 (GRCm39) |
E171G |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,206,356 (GRCm39) |
H4864R |
possibly damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,682,939 (GRCm39) |
L755* |
probably null |
Het |
| Zfp292 |
C |
T |
4: 34,807,961 (GRCm39) |
M1699I |
probably benign |
Het |
| Zmynd8 |
T |
C |
2: 165,647,129 (GRCm39) |
D880G |
probably damaging |
Het |
|
| Other mutations in Serpina3i |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00658:Serpina3i
|
APN |
12 |
104,231,429 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02661:Serpina3i
|
APN |
12 |
104,231,515 (GRCm39) |
nonsense |
probably null |
|
|
IGL02819:Serpina3i
|
APN |
12 |
104,234,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4340:Serpina3i
|
UTSW |
12 |
104,231,423 (GRCm39) |
small insertion |
probably benign |
|
|
PIT4431001:Serpina3i
|
UTSW |
12 |
104,231,432 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0091:Serpina3i
|
UTSW |
12 |
104,231,423 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0678:Serpina3i
|
UTSW |
12 |
104,232,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1624:Serpina3i
|
UTSW |
12 |
104,234,897 (GRCm39) |
makesense |
probably null |
|
|
R4604:Serpina3i
|
UTSW |
12 |
104,234,036 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4814:Serpina3i
|
UTSW |
12 |
104,231,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5213:Serpina3i
|
UTSW |
12 |
104,231,914 (GRCm39) |
missense |
probably benign |
|
|
R5464:Serpina3i
|
UTSW |
12 |
104,234,751 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5504:Serpina3i
|
UTSW |
12 |
104,232,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5723:Serpina3i
|
UTSW |
12 |
104,231,759 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5828:Serpina3i
|
UTSW |
12 |
104,231,474 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5922:Serpina3i
|
UTSW |
12 |
104,232,766 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6194:Serpina3i
|
UTSW |
12 |
104,232,762 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6235:Serpina3i
|
UTSW |
12 |
104,232,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6469:Serpina3i
|
UTSW |
12 |
104,232,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6631:Serpina3i
|
UTSW |
12 |
104,232,725 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7993:Serpina3i
|
UTSW |
12 |
104,231,407 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8437:Serpina3i
|
UTSW |
12 |
104,231,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Serpina3i
|
UTSW |
12 |
104,231,387 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9157:Serpina3i
|
UTSW |
12 |
104,231,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9249:Serpina3i
|
UTSW |
12 |
104,231,728 (GRCm39) |
nonsense |
probably null |
|
|
R9303:Serpina3i
|
UTSW |
12 |
104,234,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9305:Serpina3i
|
UTSW |
12 |
104,234,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9313:Serpina3i
|
UTSW |
12 |
104,231,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9424:Serpina3i
|
UTSW |
12 |
104,234,730 (GRCm39) |
missense |
probably benign |
|
|
R9572:Serpina3i
|
UTSW |
12 |
104,234,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9576:Serpina3i
|
UTSW |
12 |
104,234,730 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Serpina3i
|
UTSW |
12 |
104,233,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation