Incidental Mutation 'R3871:Serpina3b'
ID |
276572 |
Institutional Source |
Beutler Lab
|
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 # |
R3871 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
104094255-104105804 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104105047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 408
(I408F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085052]
|
AlphaFold |
Q8BYY9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085052
AA Change: I408F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082127 Gene: ENSMUSG00000066364 AA Change: I408F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
SERPIN
|
56 |
417 |
1.1e-153 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a1 |
T |
A |
19: 20,602,117 (GRCm39) |
Y225* |
probably null |
Het |
Bard1 |
T |
C |
1: 71,114,099 (GRCm39) |
K294R |
probably benign |
Het |
Bcap29 |
A |
T |
12: 31,667,080 (GRCm39) |
S194T |
probably benign |
Het |
Ccdc40 |
G |
A |
11: 119,155,107 (GRCm39) |
V1116M |
probably damaging |
Het |
Cntnap5a |
A |
G |
1: 115,987,979 (GRCm39) |
E170G |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cyp2c54 |
T |
C |
19: 40,060,867 (GRCm39) |
D92G |
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,674,463 (GRCm39) |
F197L |
probably benign |
Het |
Filip1l |
G |
T |
16: 57,333,649 (GRCm39) |
K147N |
probably damaging |
Het |
Hrnr |
T |
A |
3: 93,239,181 (GRCm39) |
S3140T |
unknown |
Het |
Igfn1 |
G |
T |
1: 135,896,574 (GRCm39) |
H1331N |
probably benign |
Het |
Kalrn |
C |
T |
16: 34,024,226 (GRCm39) |
|
probably null |
Het |
Kmt2d |
TTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGC |
15: 98,748,902 (GRCm39) |
|
probably benign |
Het |
Mfng |
A |
G |
15: 78,640,821 (GRCm39) |
L308P |
probably damaging |
Het |
Nt5e |
C |
A |
9: 88,246,746 (GRCm39) |
N327K |
probably benign |
Het |
Or5m13 |
T |
G |
2: 85,748,926 (GRCm39) |
|
probably null |
Het |
Pgbd1 |
C |
T |
13: 21,618,540 (GRCm39) |
R39H |
possibly damaging |
Het |
Phactr4 |
T |
C |
4: 132,104,560 (GRCm39) |
T256A |
probably benign |
Het |
Rab24 |
T |
C |
13: 55,468,992 (GRCm39) |
D63G |
probably damaging |
Het |
Rubcnl |
C |
T |
14: 75,278,356 (GRCm39) |
P380L |
probably benign |
Het |
Satb2 |
A |
G |
1: 56,930,379 (GRCm39) |
S215P |
probably damaging |
Het |
Setx |
A |
G |
2: 29,035,753 (GRCm39) |
D746G |
probably damaging |
Het |
Sf3a2 |
A |
C |
10: 80,640,527 (GRCm39) |
|
probably benign |
Het |
Snx33 |
T |
C |
9: 56,834,024 (GRCm39) |
N15S |
probably benign |
Het |
Snx9 |
C |
T |
17: 5,942,056 (GRCm39) |
P61L |
probably benign |
Het |
Sult2a6 |
T |
C |
7: 13,988,701 (GRCm39) |
K20E |
probably benign |
Het |
Tas2r122 |
A |
G |
6: 132,688,543 (GRCm39) |
S117P |
probably benign |
Het |
Tmem26 |
G |
A |
10: 68,614,562 (GRCm39) |
E326K |
probably benign |
Het |
Tnpo2 |
T |
A |
8: 85,781,380 (GRCm39) |
C789S |
probably null |
Het |
Togaram1 |
A |
C |
12: 65,049,419 (GRCm39) |
E1285D |
probably benign |
Het |
Ubxn7 |
T |
A |
16: 32,200,248 (GRCm39) |
S335T |
possibly damaging |
Het |
Unc119b |
G |
A |
5: 115,268,567 (GRCm39) |
T106M |
probably damaging |
Het |
Usp14 |
A |
G |
18: 10,002,370 (GRCm39) |
S314P |
possibly damaging |
Het |
Usp32 |
T |
C |
11: 84,971,982 (GRCm39) |
D129G |
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCCCTACAGATGATCCACAG -3'
(R):5'- CGTGTTGCCAAGAAGACTAGG -3'
Sequencing Primer
(F):5'- GCACTGAGCTGGACATGACTG -3'
(R):5'- CATCCACAGGCTCATGTGAAATGTG -3'
|
Posted On |
2015-04-06 |