Incidental Mutation 'R5552:Serpina3g'
ID |
435190 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpina3g
|
Ensembl Gene |
ENSMUSG00000041481 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3G |
Synonyms |
Spi2A, alpha-1 antiproteinase,, Spi2-1, Spi2/eb.1, alpha-1 antiproteinase, 2A2 |
MMRRC Submission |
043109-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R5552 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
104202504-104208198 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104206595 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 132
(V132A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041250
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043315]
[ENSMUST00000170628]
[ENSMUST00000171916]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043315
AA Change: V132A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000041250 Gene: ENSMUSG00000041481 AA Change: V132A
Domain | Start | End | E-Value | Type |
SERPIN
|
1 |
215 |
1.09e-43 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170628
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171065
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171916
|
SMART Domains |
Protein: ENSMUSP00000129633 Gene: ENSMUSG00000041481
Domain | Start | End | E-Value | Type |
Pfam:Serpin
|
1 |
101 |
1.3e-31 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired memory T cell homeostatic proliferation, decreased CD8+ T cells and antigen-specific CD8+ T cells after LCMV infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
A |
G |
6: 88,813,530 (GRCm39) |
Y403H |
probably benign |
Het |
Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
Arhgap19 |
T |
C |
19: 41,772,819 (GRCm39) |
I291M |
probably benign |
Het |
Blzf1 |
A |
T |
1: 164,130,058 (GRCm39) |
I91N |
probably damaging |
Het |
Cdh2 |
T |
C |
18: 16,773,520 (GRCm39) |
T270A |
possibly damaging |
Het |
Chd5 |
T |
A |
4: 152,470,272 (GRCm39) |
M1906K |
possibly damaging |
Het |
Cpsf1 |
T |
C |
15: 76,483,846 (GRCm39) |
D799G |
probably benign |
Het |
Csnk1g3 |
T |
C |
18: 54,065,355 (GRCm39) |
F313L |
probably benign |
Het |
Cyfip1 |
T |
C |
7: 55,521,855 (GRCm39) |
V53A |
possibly damaging |
Het |
Dcst1 |
T |
C |
3: 89,272,373 (GRCm39) |
D30G |
probably benign |
Het |
Dlgap2 |
G |
T |
8: 14,881,342 (GRCm39) |
G805* |
probably null |
Het |
Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
Epha8 |
T |
C |
4: 136,659,210 (GRCm39) |
N843S |
probably damaging |
Het |
Evi5 |
A |
T |
5: 107,966,855 (GRCm39) |
V222E |
probably damaging |
Het |
Gli1 |
C |
A |
10: 127,166,131 (GRCm39) |
A1041S |
probably benign |
Het |
Glipr1l1 |
A |
T |
10: 111,898,243 (GRCm39) |
Q116L |
probably benign |
Het |
H3c4 |
A |
G |
13: 23,760,295 (GRCm39) |
D107G |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,480,914 (GRCm39) |
L2985Q |
possibly damaging |
Het |
Hk2 |
G |
T |
6: 82,707,804 (GRCm39) |
R694S |
possibly damaging |
Het |
Htt |
A |
G |
5: 34,979,118 (GRCm39) |
M834V |
probably benign |
Het |
Itpr2 |
A |
G |
6: 146,195,578 (GRCm39) |
Y1600H |
probably benign |
Het |
Med1 |
A |
T |
11: 98,057,157 (GRCm39) |
Y340* |
probably null |
Het |
Mov10l1 |
T |
A |
15: 88,938,569 (GRCm39) |
|
probably null |
Het |
Mrc1 |
T |
C |
2: 14,284,768 (GRCm39) |
F586L |
probably benign |
Het |
Mrrf |
T |
A |
2: 36,037,973 (GRCm39) |
D81E |
possibly damaging |
Het |
Nod1 |
A |
G |
6: 54,921,616 (GRCm39) |
F234S |
probably damaging |
Het |
Odad2 |
A |
G |
18: 7,285,360 (GRCm39) |
V267A |
possibly damaging |
Het |
Or10ak9 |
T |
A |
4: 118,726,665 (GRCm39) |
I228N |
probably damaging |
Het |
Or6c69c |
T |
C |
10: 129,911,014 (GRCm39) |
V245A |
probably damaging |
Het |
Pde4a |
T |
C |
9: 21,112,682 (GRCm39) |
V343A |
probably damaging |
Het |
Pmfbp1 |
T |
A |
8: 110,258,383 (GRCm39) |
L649Q |
probably damaging |
Het |
Polq |
A |
G |
16: 36,914,872 (GRCm39) |
I2511V |
possibly damaging |
Het |
Pramel51 |
T |
A |
12: 88,145,135 (GRCm39) |
T64S |
probably benign |
Het |
Serac1 |
T |
A |
17: 6,106,967 (GRCm39) |
R361* |
probably null |
Het |
Thada |
A |
C |
17: 84,736,558 (GRCm39) |
S908A |
probably benign |
Het |
Zfp280b |
C |
T |
10: 75,875,497 (GRCm39) |
Q459* |
probably null |
Het |
|
Other mutations in Serpina3g |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02629:Serpina3g
|
APN |
12 |
104,207,437 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02663:Serpina3g
|
APN |
12 |
104,205,399 (GRCm39) |
missense |
possibly damaging |
0.94 |
BB008:Serpina3g
|
UTSW |
12 |
104,205,428 (GRCm39) |
missense |
probably benign |
0.00 |
BB018:Serpina3g
|
UTSW |
12 |
104,205,428 (GRCm39) |
missense |
probably benign |
0.00 |
R0047:Serpina3g
|
UTSW |
12 |
104,206,543 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0525:Serpina3g
|
UTSW |
12 |
104,204,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R0702:Serpina3g
|
UTSW |
12 |
104,207,512 (GRCm39) |
missense |
probably damaging |
0.96 |
R1163:Serpina3g
|
UTSW |
12 |
104,205,551 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1595:Serpina3g
|
UTSW |
12 |
104,205,531 (GRCm39) |
missense |
probably benign |
0.16 |
R1908:Serpina3g
|
UTSW |
12 |
104,207,536 (GRCm39) |
missense |
probably damaging |
0.96 |
R2089:Serpina3g
|
UTSW |
12 |
104,205,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R2091:Serpina3g
|
UTSW |
12 |
104,205,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R2091:Serpina3g
|
UTSW |
12 |
104,205,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R2403:Serpina3g
|
UTSW |
12 |
104,207,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R4165:Serpina3g
|
UTSW |
12 |
104,206,546 (GRCm39) |
missense |
probably benign |
0.00 |
R4466:Serpina3g
|
UTSW |
12 |
104,204,182 (GRCm39) |
splice site |
probably benign |
|
R4669:Serpina3g
|
UTSW |
12 |
104,205,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R4735:Serpina3g
|
UTSW |
12 |
104,205,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R5423:Serpina3g
|
UTSW |
12 |
104,204,253 (GRCm39) |
utr 5 prime |
probably benign |
|
R5605:Serpina3g
|
UTSW |
12 |
104,207,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R6384:Serpina3g
|
UTSW |
12 |
104,206,655 (GRCm39) |
missense |
probably null |
0.34 |
R6446:Serpina3g
|
UTSW |
12 |
104,205,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R7100:Serpina3g
|
UTSW |
12 |
104,204,570 (GRCm39) |
start gained |
probably benign |
|
R7869:Serpina3g
|
UTSW |
12 |
104,206,510 (GRCm39) |
missense |
probably benign |
0.05 |
R7878:Serpina3g
|
UTSW |
12 |
104,204,361 (GRCm39) |
start gained |
probably benign |
|
R7931:Serpina3g
|
UTSW |
12 |
104,205,428 (GRCm39) |
missense |
probably benign |
0.00 |
R8260:Serpina3g
|
UTSW |
12 |
104,205,362 (GRCm39) |
missense |
probably benign |
0.01 |
R8839:Serpina3g
|
UTSW |
12 |
104,204,038 (GRCm39) |
intron |
probably benign |
|
R9420:Serpina3g
|
UTSW |
12 |
104,206,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGTGTAGAGGAGCCAAGC -3'
(R):5'- ATGTAGGGACTGGCTGCATG -3'
Sequencing Primer
(F):5'- GCCAAGCAGCACAGTGGAC -3'
(R):5'- GATTAAGTTCTCCCCGGCATGAG -3'
|
Posted On |
2016-10-24 |