Incidental Mutation 'IGL00164:Serpina3b'
ID |
1054 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpina3b
|
Ensembl Gene |
ENSMUSG00000066364 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3B |
Synonyms |
alpha-1 antiproteinase, 6A1, antitrypsin, A030003A19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
IGL00164
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
104094255-104105804 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 104105046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Cysteine
at position 407
(W407C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085052]
|
AlphaFold |
Q8BYY9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085052
AA Change: W407C
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000082127 Gene: ENSMUSG00000066364 AA Change: W407C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
SERPIN
|
56 |
417 |
1.1e-153 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,471,477 (GRCm39) |
|
probably benign |
Het |
Abcg4 |
A |
G |
9: 44,186,439 (GRCm39) |
|
probably benign |
Het |
Actr2 |
A |
G |
11: 20,030,015 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,267,581 (GRCm39) |
L843P |
probably benign |
Het |
Cdk19 |
G |
A |
10: 40,312,161 (GRCm39) |
D137N |
probably benign |
Het |
Cuedc2 |
T |
A |
19: 46,320,359 (GRCm39) |
I71F |
probably damaging |
Het |
Dag1 |
A |
G |
9: 108,086,487 (GRCm39) |
V218A |
probably damaging |
Het |
Dlg5 |
A |
C |
14: 24,208,532 (GRCm39) |
S868R |
possibly damaging |
Het |
Ecsit |
C |
T |
9: 21,984,310 (GRCm39) |
G340D |
probably benign |
Het |
Fkbp8 |
A |
G |
8: 70,987,211 (GRCm39) |
M358V |
probably damaging |
Het |
Gckr |
G |
A |
5: 31,456,920 (GRCm39) |
V79M |
probably damaging |
Het |
Gpd1 |
C |
A |
15: 99,618,532 (GRCm39) |
D172E |
probably benign |
Het |
Josd2 |
T |
C |
7: 44,120,740 (GRCm39) |
|
probably benign |
Het |
Kcna2 |
T |
C |
3: 107,011,946 (GRCm39) |
S176P |
probably damaging |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Notch1 |
G |
A |
2: 26,350,058 (GRCm39) |
R2361W |
probably damaging |
Het |
Or5w1 |
T |
C |
2: 87,486,582 (GRCm39) |
M228V |
probably benign |
Het |
Palb2 |
A |
C |
7: 121,720,271 (GRCm39) |
|
probably benign |
Het |
Pan2 |
C |
T |
10: 128,148,795 (GRCm39) |
Q452* |
probably null |
Het |
Pcnx1 |
T |
C |
12: 81,941,875 (GRCm39) |
V91A |
probably damaging |
Het |
Rgs22 |
T |
A |
15: 36,100,077 (GRCm39) |
I213F |
possibly damaging |
Het |
Sf3b2 |
T |
C |
19: 5,329,615 (GRCm39) |
D687G |
probably benign |
Het |
Slc8a3 |
T |
C |
12: 81,361,343 (GRCm39) |
E492G |
probably benign |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Surf1 |
C |
T |
2: 26,803,584 (GRCm39) |
|
probably null |
Het |
Tmem190 |
T |
C |
7: 4,785,998 (GRCm39) |
|
probably benign |
Het |
Zfhx2 |
A |
G |
14: 55,302,483 (GRCm39) |
S1834P |
possibly damaging |
Het |
Zfp607a |
G |
A |
7: 27,577,214 (GRCm39) |
E95K |
possibly damaging |
Het |
|
Other mutations in Serpina3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00427:Serpina3b
|
APN |
12 |
104,099,200 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01637:Serpina3b
|
APN |
12 |
104,099,216 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01738:Serpina3b
|
APN |
12 |
104,097,091 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02403:Serpina3b
|
APN |
12 |
104,096,721 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
IGL03118:Serpina3b
|
APN |
12 |
104,097,313 (GRCm39) |
missense |
probably benign |
0.22 |
R0141:Serpina3b
|
UTSW |
12 |
104,097,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R0217:Serpina3b
|
UTSW |
12 |
104,096,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R0437:Serpina3b
|
UTSW |
12 |
104,096,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R1295:Serpina3b
|
UTSW |
12 |
104,097,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R1463:Serpina3b
|
UTSW |
12 |
104,104,969 (GRCm39) |
missense |
probably benign |
0.02 |
R1802:Serpina3b
|
UTSW |
12 |
104,104,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R2104:Serpina3b
|
UTSW |
12 |
104,105,069 (GRCm39) |
missense |
probably benign |
0.01 |
R3871:Serpina3b
|
UTSW |
12 |
104,105,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R4720:Serpina3b
|
UTSW |
12 |
104,096,889 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5827:Serpina3b
|
UTSW |
12 |
104,097,036 (GRCm39) |
missense |
probably benign |
0.02 |
R5970:Serpina3b
|
UTSW |
12 |
104,100,350 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6014:Serpina3b
|
UTSW |
12 |
104,097,356 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6102:Serpina3b
|
UTSW |
12 |
104,100,428 (GRCm39) |
missense |
probably benign |
0.00 |
R6673:Serpina3b
|
UTSW |
12 |
104,096,928 (GRCm39) |
missense |
probably damaging |
0.96 |
R6807:Serpina3b
|
UTSW |
12 |
104,099,251 (GRCm39) |
missense |
probably benign |
0.00 |
R6836:Serpina3b
|
UTSW |
12 |
104,100,341 (GRCm39) |
missense |
probably benign |
0.30 |
R6893:Serpina3b
|
UTSW |
12 |
104,099,285 (GRCm39) |
missense |
probably benign |
0.04 |
R7414:Serpina3b
|
UTSW |
12 |
104,099,145 (GRCm39) |
missense |
probably benign |
0.03 |
R7539:Serpina3b
|
UTSW |
12 |
104,096,970 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7748:Serpina3b
|
UTSW |
12 |
104,096,722 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R7817:Serpina3b
|
UTSW |
12 |
104,099,223 (GRCm39) |
missense |
probably benign |
0.01 |
R8040:Serpina3b
|
UTSW |
12 |
104,097,335 (GRCm39) |
missense |
probably benign |
0.00 |
R8143:Serpina3b
|
UTSW |
12 |
104,096,793 (GRCm39) |
missense |
probably benign |
0.06 |
R8360:Serpina3b
|
UTSW |
12 |
104,104,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2011-07-12 |