Incidental Mutation 'IGL01738:Serpina3b'
ID |
105765 |
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: 0.058)
|
Stock # |
IGL01738
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
104094255-104105804 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 104097091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 124
(L124R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085052]
|
AlphaFold |
Q8BYY9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085052
AA Change: L124R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082127 Gene: ENSMUSG00000066364 AA Change: L124R
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
A |
T |
8: 106,436,668 (GRCm39) |
D288V |
probably damaging |
Het |
Agtr1a |
G |
A |
13: 30,565,021 (GRCm39) |
V29I |
probably benign |
Het |
Akap6 |
G |
T |
12: 52,933,600 (GRCm39) |
C364F |
probably damaging |
Het |
Calcrl |
T |
G |
2: 84,200,793 (GRCm39) |
M84L |
probably benign |
Het |
Cep128 |
C |
A |
12: 91,197,616 (GRCm39) |
G402C |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,785,624 (GRCm39) |
L422P |
probably damaging |
Het |
Cnbd2 |
C |
A |
2: 156,217,537 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
A |
G |
4: 63,182,016 (GRCm39) |
|
probably benign |
Het |
Cyp3a44 |
A |
G |
5: 145,731,745 (GRCm39) |
S134P |
probably damaging |
Het |
Dync2h1 |
A |
C |
9: 7,114,922 (GRCm39) |
L179R |
possibly damaging |
Het |
Ell |
T |
A |
8: 71,034,331 (GRCm39) |
|
probably benign |
Het |
Gfm1 |
A |
G |
3: 67,363,994 (GRCm39) |
E490G |
probably benign |
Het |
Glt1d1 |
T |
G |
5: 127,709,419 (GRCm39) |
|
probably benign |
Het |
Gm10267 |
A |
T |
18: 44,292,342 (GRCm39) |
I10K |
possibly damaging |
Het |
Htra4 |
A |
G |
8: 25,515,727 (GRCm39) |
V437A |
probably damaging |
Het |
Ighv1-69 |
T |
C |
12: 115,587,061 (GRCm39) |
Q24R |
possibly damaging |
Het |
Igkv14-111 |
G |
A |
6: 68,233,443 (GRCm39) |
|
probably benign |
Het |
Ipcef1 |
A |
T |
10: 6,840,575 (GRCm39) |
I374N |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,373,648 (GRCm39) |
D1447G |
possibly damaging |
Het |
Mast4 |
A |
G |
13: 102,873,749 (GRCm39) |
F1681S |
probably damaging |
Het |
Mmp3 |
A |
T |
9: 7,446,946 (GRCm39) |
N42I |
possibly damaging |
Het |
Mybpc1 |
G |
T |
10: 88,406,507 (GRCm39) |
F126L |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,266,652 (GRCm39) |
K631E |
probably damaging |
Het |
Or8b43 |
A |
C |
9: 38,360,942 (GRCm39) |
Y258S |
probably damaging |
Het |
Pcsk5 |
T |
A |
19: 17,411,144 (GRCm39) |
|
probably benign |
Het |
Srgap2 |
T |
C |
1: 131,224,164 (GRCm39) |
I95V |
probably benign |
Het |
Sstr5 |
A |
T |
17: 25,710,584 (GRCm39) |
I215N |
probably damaging |
Het |
Top3b |
G |
A |
16: 16,698,468 (GRCm39) |
V104M |
probably benign |
Het |
Tspan8 |
G |
A |
10: 115,653,570 (GRCm39) |
|
probably null |
Het |
Vmn2r102 |
A |
G |
17: 19,898,020 (GRCm39) |
Y345C |
probably damaging |
Het |
Vmn2r17 |
G |
A |
5: 109,577,364 (GRCm39) |
G472S |
probably damaging |
Het |
Zmpste24 |
A |
T |
4: 120,918,308 (GRCm39) |
L438Q |
probably damaging |
Het |
|
Other mutations in Serpina3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00164:Serpina3b
|
APN |
12 |
104,105,046 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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 |
2014-01-21 |