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 |
antitrypsin, A030003A19Rik, alpha-1 antiproteinase, 6A1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R3871 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104127996-104139545 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104138788 bp (GRCm38)
|
| 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: 20,624,753 (GRCm38) |
Y225* |
probably null |
Het |
| Bard1 |
T |
C |
1: 71,074,940 (GRCm38) |
K294R |
probably benign |
Het |
| Bcap29 |
A |
T |
12: 31,617,081 (GRCm38) |
S194T |
probably benign |
Het |
| Ccdc40 |
G |
A |
11: 119,264,281 (GRCm38) |
V1116M |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,060,249 (GRCm38) |
E170G |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,805,551 (GRCm38) |
G102D |
possibly damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,072,423 (GRCm38) |
D92G |
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,469,465 (GRCm38) |
F197L |
probably benign |
Het |
| Filip1l |
G |
T |
16: 57,513,286 (GRCm38) |
K147N |
probably damaging |
Het |
| Hrnr |
T |
A |
3: 93,331,874 (GRCm38) |
S3140T |
unknown |
Het |
| Igfn1 |
G |
T |
1: 135,968,836 (GRCm38) |
H1331N |
probably benign |
Het |
| Kalrn |
C |
T |
16: 34,203,856 (GRCm38) |
|
probably null |
Het |
| Kmt2d |
TTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGC |
15: 98,851,021 (GRCm38) |
|
probably benign |
Het |
| Mfng |
A |
G |
15: 78,756,621 (GRCm38) |
L308P |
probably damaging |
Het |
| Nt5e |
C |
A |
9: 88,364,693 (GRCm38) |
N327K |
probably benign |
Het |
| Olfr1025-ps1 |
T |
G |
2: 85,918,582 (GRCm38) |
|
probably null |
Het |
| Pgbd1 |
C |
T |
13: 21,434,370 (GRCm38) |
R39H |
possibly damaging |
Het |
| Phactr4 |
T |
C |
4: 132,377,249 (GRCm38) |
T256A |
probably benign |
Het |
| Rab24 |
T |
C |
13: 55,321,179 (GRCm38) |
D63G |
probably damaging |
Het |
| Rubcnl |
C |
T |
14: 75,040,916 (GRCm38) |
P380L |
probably benign |
Het |
| Satb2 |
A |
G |
1: 56,891,220 (GRCm38) |
S215P |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,145,741 (GRCm38) |
D746G |
probably damaging |
Het |
| Sf3a2 |
A |
C |
10: 80,804,693 (GRCm38) |
|
probably benign |
Het |
| Snx33 |
T |
C |
9: 56,926,740 (GRCm38) |
N15S |
probably benign |
Het |
| Snx9 |
C |
T |
17: 5,891,781 (GRCm38) |
P61L |
probably benign |
Het |
| Sult2a6 |
T |
C |
7: 14,254,776 (GRCm38) |
K20E |
probably benign |
Het |
| Tas2r122 |
A |
G |
6: 132,711,580 (GRCm38) |
S117P |
probably benign |
Het |
| Tmem26 |
G |
A |
10: 68,778,732 (GRCm38) |
E326K |
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,054,751 (GRCm38) |
C789S |
probably null |
Het |
| Togaram1 |
A |
C |
12: 65,002,645 (GRCm38) |
E1285D |
probably benign |
Het |
| Ubxn7 |
T |
A |
16: 32,381,430 (GRCm38) |
S335T |
possibly damaging |
Het |
| Unc119b |
G |
A |
5: 115,130,508 (GRCm38) |
T106M |
probably damaging |
Het |
| Usp14 |
A |
G |
18: 10,002,370 (GRCm38) |
S314P |
possibly damaging |
Het |
| Usp32 |
T |
C |
11: 85,081,156 (GRCm38) |
D129G |
probably null |
Het |
|
| Other mutations in Serpina3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Serpina3b
|
APN |
12 |
104,138,787 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL00427:Serpina3b
|
APN |
12 |
104,132,941 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01637:Serpina3b
|
APN |
12 |
104,132,957 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01738:Serpina3b
|
APN |
12 |
104,130,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02403:Serpina3b
|
APN |
12 |
104,130,462 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
IGL03118:Serpina3b
|
APN |
12 |
104,131,054 (GRCm38) |
missense |
probably benign |
0.22 |
|
R0141:Serpina3b
|
UTSW |
12 |
104,130,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0217:Serpina3b
|
UTSW |
12 |
104,130,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0437:Serpina3b
|
UTSW |
12 |
104,130,670 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1295:Serpina3b
|
UTSW |
12 |
104,130,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1463:Serpina3b
|
UTSW |
12 |
104,138,710 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1802:Serpina3b
|
UTSW |
12 |
104,138,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2104:Serpina3b
|
UTSW |
12 |
104,138,810 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4720:Serpina3b
|
UTSW |
12 |
104,130,630 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5827:Serpina3b
|
UTSW |
12 |
104,130,777 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5970:Serpina3b
|
UTSW |
12 |
104,134,091 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6014:Serpina3b
|
UTSW |
12 |
104,131,097 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6102:Serpina3b
|
UTSW |
12 |
104,134,169 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6673:Serpina3b
|
UTSW |
12 |
104,130,669 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6807:Serpina3b
|
UTSW |
12 |
104,132,992 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6836:Serpina3b
|
UTSW |
12 |
104,134,082 (GRCm38) |
missense |
probably benign |
0.30 |
|
R6893:Serpina3b
|
UTSW |
12 |
104,133,026 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7414:Serpina3b
|
UTSW |
12 |
104,132,886 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7539:Serpina3b
|
UTSW |
12 |
104,130,711 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7748:Serpina3b
|
UTSW |
12 |
104,130,463 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R7817:Serpina3b
|
UTSW |
12 |
104,132,964 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8040:Serpina3b
|
UTSW |
12 |
104,131,076 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8143:Serpina3b
|
UTSW |
12 |
104,130,534 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8360:Serpina3b
|
UTSW |
12 |
104,138,703 (GRCm38) |
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 |
Incidental Mutation