Incidental Mutation 'R4011:Serpina3a'
ID |
311705 |
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 |
040948-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R4011 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
104078983-104088155 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104084902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 99
(D99V)
|
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: D289V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000021496 Gene: ENSMUSG00000041536 AA Change: D289V
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: D99V
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000105591 Gene: ENSMUSG00000041536 AA Change: D99V
Domain | Start | End | E-Value | Type |
SERPIN
|
4 |
229 |
5.39e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185595
AA Change: D289V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000140024 Gene: ENSMUSG00000041536 AA Change: D289V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
SERPIN
|
58 |
419 |
1.73e-151 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
A |
11: 9,572,013 (GRCm39) |
|
probably benign |
Het |
Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
Adsl |
T |
C |
15: 80,850,357 (GRCm39) |
S359P |
probably benign |
Het |
C1qtnf1 |
G |
A |
11: 118,337,365 (GRCm39) |
G65D |
probably benign |
Het |
Chd1l |
A |
T |
3: 97,477,718 (GRCm39) |
M679K |
probably benign |
Het |
Cspg4 |
A |
G |
9: 56,794,601 (GRCm39) |
T779A |
probably benign |
Het |
Ddx18 |
T |
C |
1: 121,489,810 (GRCm39) |
I200V |
probably benign |
Het |
Dnah9 |
T |
A |
11: 65,725,290 (GRCm39) |
M4288L |
probably damaging |
Het |
F830045P16Rik |
A |
T |
2: 129,305,467 (GRCm39) |
N302K |
probably damaging |
Het |
Gas1 |
T |
G |
13: 60,323,791 (GRCm39) |
D322A |
unknown |
Het |
Gfm2 |
T |
A |
13: 97,279,608 (GRCm39) |
|
probably benign |
Het |
Gm5592 |
G |
T |
7: 40,938,934 (GRCm39) |
V739L |
probably benign |
Het |
Hbb-bh2 |
T |
A |
7: 103,489,416 (GRCm39) |
H45L |
probably benign |
Het |
Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
Igdcc4 |
T |
C |
9: 65,042,761 (GRCm39) |
V1237A |
probably benign |
Het |
Kat2b |
G |
A |
17: 53,951,769 (GRCm39) |
|
probably null |
Het |
Lmtk2 |
A |
G |
5: 144,112,697 (GRCm39) |
N1139S |
probably benign |
Het |
Map1a |
G |
A |
2: 121,130,608 (GRCm39) |
A475T |
probably damaging |
Het |
Map3k20 |
G |
A |
2: 72,214,468 (GRCm39) |
|
probably benign |
Het |
Mga |
T |
C |
2: 119,762,261 (GRCm39) |
V1084A |
probably damaging |
Het |
Msantd5f6 |
T |
C |
4: 73,320,047 (GRCm39) |
Y244C |
probably damaging |
Het |
Myo3b |
A |
G |
2: 69,926,720 (GRCm39) |
I5V |
probably benign |
Het |
Or10a3m |
A |
T |
7: 108,313,366 (GRCm39) |
I269L |
probably benign |
Het |
Or10ag56 |
A |
G |
2: 87,139,555 (GRCm39) |
I141V |
probably benign |
Het |
Or10ag57 |
A |
T |
2: 87,218,924 (GRCm39) |
I292F |
possibly damaging |
Het |
Or56b1 |
A |
G |
7: 104,285,555 (GRCm39) |
T225A |
probably benign |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Or5v1 |
T |
C |
17: 37,810,382 (GRCm39) |
V280A |
possibly damaging |
Het |
Osmr |
G |
T |
15: 6,854,014 (GRCm39) |
R565S |
probably benign |
Het |
Pcolce |
G |
T |
5: 137,604,036 (GRCm39) |
Q344K |
probably benign |
Het |
Prdm11 |
A |
G |
2: 92,843,175 (GRCm39) |
F95L |
probably damaging |
Het |
Psd2 |
C |
T |
18: 36,120,300 (GRCm39) |
T383I |
probably benign |
Het |
Reg3a |
G |
A |
6: 78,360,553 (GRCm39) |
D164N |
probably damaging |
Het |
Sgce |
G |
T |
6: 4,691,563 (GRCm39) |
Y301* |
probably null |
Het |
Slc28a3 |
T |
C |
13: 58,714,064 (GRCm39) |
K434E |
probably benign |
Het |
Slc30a3 |
A |
G |
5: 31,244,203 (GRCm39) |
F360L |
probably damaging |
Het |
Tdpoz3 |
A |
T |
3: 93,733,550 (GRCm39) |
Y75F |
possibly damaging |
Het |
Trim65 |
A |
G |
11: 116,018,529 (GRCm39) |
F249L |
probably benign |
Het |
Tubgcp3 |
A |
T |
8: 12,689,634 (GRCm39) |
L544* |
probably null |
Het |
Vit |
C |
T |
17: 78,842,121 (GRCm39) |
|
probably benign |
Het |
Wdfy4 |
C |
A |
14: 32,824,637 (GRCm39) |
|
probably benign |
Het |
Xpo6 |
T |
C |
7: 125,739,780 (GRCm39) |
K431E |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,867,278 (GRCm39) |
Y545* |
probably null |
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 |
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 |
R9141:Serpina3a
|
UTSW |
12 |
104,087,649 (GRCm39) |
missense |
probably benign |
0.00 |
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'- ACCCTGAAGACACGTTCCTG -3'
(R):5'- GAGGAGGGAAATTCAACTCAACTC -3'
Sequencing Primer
(F):5'- GACACGTTCCTGGGAAATTTCAC -3'
(R):5'- GGGAAATTCAACTCAACTCTATCTG -3'
|
Posted On |
2015-04-29 |