Incidental Mutation 'R9141:Serpina3a'
ID |
694357 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpina3a
|
Ensembl Gene |
ENSMUSG00000041536 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3A |
Synonyms |
4933406L18Rik, alpha-1 antiproteinase,, antitrypsin |
MMRRC Submission |
068933-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R9141 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
104078983-104088155 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104087649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 191
(N191D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105591
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021496]
[ENSMUST00000109965]
[ENSMUST00000185595]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021496
AA Change: N381D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000021496 Gene: ENSMUSG00000041536 AA Change: N381D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
SERPIN
|
58 |
419 |
1.73e-151 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109965
AA Change: N191D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000105591 Gene: ENSMUSG00000041536 AA Change: N191D
Domain | Start | End | E-Value | Type |
SERPIN
|
4 |
229 |
5.39e-16 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000140024 Gene: ENSMUSG00000041536 AA Change: N381D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
SERPIN
|
58 |
419 |
1.73e-151 |
SMART |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
G |
10: 79,851,264 (GRCm39) |
D2159G |
possibly damaging |
Het |
Adamts8 |
A |
G |
9: 30,864,721 (GRCm39) |
Y404C |
possibly damaging |
Het |
Arhgef16 |
A |
C |
4: 154,366,300 (GRCm39) |
L489R |
probably damaging |
Het |
BC034090 |
C |
T |
1: 155,108,474 (GRCm39) |
|
probably benign |
Het |
Cdc25b |
T |
C |
2: 131,033,857 (GRCm39) |
|
probably null |
Het |
Cert1 |
T |
A |
13: 96,753,568 (GRCm39) |
F393I |
probably damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
A |
T |
6: 18,429,138 (GRCm39) |
C163* |
probably null |
Het |
Dclre1a |
A |
T |
19: 56,533,542 (GRCm39) |
F351I |
probably damaging |
Het |
Ddx46 |
T |
A |
13: 55,823,892 (GRCm39) |
Y933N |
probably damaging |
Het |
Dnai4 |
A |
T |
4: 102,906,743 (GRCm39) |
I690N |
probably damaging |
Het |
Eif2b3 |
C |
A |
4: 116,923,578 (GRCm39) |
Y264* |
probably null |
Het |
Esco1 |
T |
C |
18: 10,594,731 (GRCm39) |
K185R |
possibly damaging |
Het |
F11 |
A |
G |
8: 45,703,092 (GRCm39) |
|
probably null |
Het |
Fmo2 |
T |
C |
1: 162,709,623 (GRCm39) |
M255V |
probably null |
Het |
Hdac7 |
T |
C |
15: 97,697,649 (GRCm39) |
T677A |
probably benign |
Het |
Iqcn |
C |
T |
8: 71,162,421 (GRCm39) |
T538M |
probably benign |
Het |
Krt84 |
C |
A |
15: 101,440,974 (GRCm39) |
V73F |
probably benign |
Het |
Lamc1 |
A |
G |
1: 153,123,196 (GRCm39) |
Y665H |
probably benign |
Het |
Lrrc27 |
A |
G |
7: 138,807,861 (GRCm39) |
I323V |
probably benign |
Het |
Ltbp1 |
C |
T |
17: 75,598,309 (GRCm39) |
R597W |
possibly damaging |
Het |
Nfib |
T |
G |
4: 82,416,529 (GRCm39) |
T170P |
probably damaging |
Het |
Nufip1 |
A |
T |
14: 76,370,413 (GRCm39) |
E371D |
possibly damaging |
Het |
Optn |
T |
A |
2: 5,059,485 (GRCm39) |
E11V |
possibly damaging |
Het |
Or4d2b |
A |
T |
11: 87,780,056 (GRCm39) |
L222Q |
probably damaging |
Het |
Pdha2 |
T |
C |
3: 140,917,211 (GRCm39) |
E99G |
probably damaging |
Het |
Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
Prox1 |
T |
C |
1: 189,892,511 (GRCm39) |
|
probably null |
Het |
Ptbp1 |
T |
A |
10: 79,694,897 (GRCm39) |
I75N |
probably damaging |
Het |
R3hdm1 |
T |
C |
1: 128,164,212 (GRCm39) |
L1042P |
probably damaging |
Het |
Ralgapb |
A |
T |
2: 158,262,811 (GRCm39) |
Q16H |
possibly damaging |
Het |
Scmh1 |
T |
C |
4: 120,362,556 (GRCm39) |
V264A |
probably benign |
Het |
Sec23a |
A |
G |
12: 59,053,890 (GRCm39) |
V36A |
probably benign |
Het |
Slc10a7 |
T |
A |
8: 79,236,241 (GRCm39) |
M13K |
probably benign |
Het |
Slco2a1 |
G |
T |
9: 102,945,254 (GRCm39) |
|
probably benign |
Het |
Smchd1 |
C |
T |
17: 71,672,125 (GRCm39) |
S1643N |
probably benign |
Het |
Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
Spata31h1 |
T |
A |
10: 82,126,610 (GRCm39) |
K2133N |
probably damaging |
Het |
St6galnac6 |
T |
C |
2: 32,505,094 (GRCm39) |
I202T |
probably damaging |
Het |
Stab2 |
T |
C |
10: 86,704,911 (GRCm39) |
K1819R |
probably damaging |
Het |
Strn3 |
T |
C |
12: 51,694,873 (GRCm39) |
T297A |
probably damaging |
Het |
Sult1b1 |
T |
A |
5: 87,665,280 (GRCm39) |
E218V |
probably damaging |
Het |
Urb2 |
T |
G |
8: 124,755,285 (GRCm39) |
L331V |
probably damaging |
Het |
Vmn1r86 |
A |
T |
7: 12,836,789 (GRCm39) |
L29* |
probably null |
Het |
Vmn2r52 |
G |
T |
7: 9,905,331 (GRCm39) |
Y169* |
probably null |
Het |
Zfp592 |
A |
T |
7: 80,674,205 (GRCm39) |
T390S |
probably damaging |
Het |
|
Other mutations in Serpina3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01133:Serpina3a
|
APN |
12 |
104,087,758 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02003:Serpina3a
|
APN |
12 |
104,082,259 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02379:Serpina3a
|
APN |
12 |
104,084,919 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02547:Serpina3a
|
APN |
12 |
104,082,802 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02593:Serpina3a
|
APN |
12 |
104,084,691 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02730:Serpina3a
|
APN |
12 |
104,085,922 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02953:Serpina3a
|
APN |
12 |
104,082,748 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03197:Serpina3a
|
APN |
12 |
104,082,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R1184:Serpina3a
|
UTSW |
12 |
104,082,787 (GRCm39) |
nonsense |
probably null |
|
R1635:Serpina3a
|
UTSW |
12 |
104,082,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R1688:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
R1804:Serpina3a
|
UTSW |
12 |
104,084,675 (GRCm39) |
splice site |
probably benign |
|
R1867:Serpina3a
|
UTSW |
12 |
104,084,886 (GRCm39) |
missense |
probably benign |
0.01 |
R1888:Serpina3a
|
UTSW |
12 |
104,082,362 (GRCm39) |
missense |
probably benign |
0.16 |
R1888:Serpina3a
|
UTSW |
12 |
104,082,362 (GRCm39) |
missense |
probably benign |
0.16 |
R2110:Serpina3a
|
UTSW |
12 |
104,082,481 (GRCm39) |
missense |
probably damaging |
0.97 |
R2111:Serpina3a
|
UTSW |
12 |
104,082,481 (GRCm39) |
missense |
probably damaging |
0.97 |
R2305:Serpina3a
|
UTSW |
12 |
104,082,787 (GRCm39) |
missense |
probably benign |
0.05 |
R2326:Serpina3a
|
UTSW |
12 |
104,082,758 (GRCm39) |
missense |
probably benign |
0.01 |
R2405:Serpina3a
|
UTSW |
12 |
104,087,577 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4008:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
R4010:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
R4011:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
R4079:Serpina3a
|
UTSW |
12 |
104,085,934 (GRCm39) |
nonsense |
probably null |
|
R4091:Serpina3a
|
UTSW |
12 |
104,082,625 (GRCm39) |
missense |
probably benign |
0.01 |
R4092:Serpina3a
|
UTSW |
12 |
104,082,625 (GRCm39) |
missense |
probably benign |
0.01 |
R4210:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
R5064:Serpina3a
|
UTSW |
12 |
104,082,448 (GRCm39) |
missense |
probably benign |
0.01 |
R6242:Serpina3a
|
UTSW |
12 |
104,082,260 (GRCm39) |
missense |
probably benign |
0.10 |
R6337:Serpina3a
|
UTSW |
12 |
104,079,137 (GRCm39) |
missense |
probably benign |
0.36 |
R6395:Serpina3a
|
UTSW |
12 |
104,082,710 (GRCm39) |
missense |
probably damaging |
0.99 |
R6683:Serpina3a
|
UTSW |
12 |
104,085,896 (GRCm39) |
missense |
probably benign |
0.16 |
R6994:Serpina3a
|
UTSW |
12 |
104,079,089 (GRCm39) |
splice site |
probably null |
|
R7117:Serpina3a
|
UTSW |
12 |
104,082,436 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8104:Serpina3a
|
UTSW |
12 |
104,079,110 (GRCm39) |
start gained |
probably benign |
|
R8131:Serpina3a
|
UTSW |
12 |
104,082,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R9042:Serpina3a
|
UTSW |
12 |
104,082,362 (GRCm39) |
missense |
probably benign |
0.16 |
R9089:Serpina3a
|
UTSW |
12 |
104,085,956 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9426:Serpina3a
|
UTSW |
12 |
104,087,649 (GRCm39) |
missense |
probably benign |
0.00 |
R9564:Serpina3a
|
UTSW |
12 |
104,084,886 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCGCAGAGACTTGGAAATG -3'
(R):5'- GCATATCCTAGCCAATCAGAGG -3'
Sequencing Primer
(F):5'- CTTGGAAATGCAGGGTTAGAGCC -3'
(R):5'- TCCTAGCCAATCAGAGGATAGAAGC -3'
|
Posted On |
2022-01-20 |