Incidental Mutation 'IGL02629:Serpina3g'
ID |
301203 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL02629
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
104202504-104208198 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104207437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 200
(D200G)
|
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: D200G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041250 Gene: ENSMUSG00000041481 AA Change: D200G
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 |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
C |
10: 100,445,006 (GRCm39) |
|
probably benign |
Het |
Aadacl3 |
A |
G |
4: 144,190,199 (GRCm39) |
I34T |
possibly damaging |
Het |
Acan |
T |
A |
7: 78,761,727 (GRCm39) |
I1979N |
possibly damaging |
Het |
Ankrd27 |
A |
G |
7: 35,325,121 (GRCm39) |
D701G |
probably benign |
Het |
Arhgap31 |
C |
T |
16: 38,429,526 (GRCm39) |
G450S |
probably benign |
Het |
Braf |
T |
C |
6: 39,665,233 (GRCm39) |
E45G |
possibly damaging |
Het |
Btnl6 |
C |
T |
17: 34,733,442 (GRCm39) |
V178M |
probably damaging |
Het |
Capg |
A |
T |
6: 72,532,737 (GRCm39) |
Q67L |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,736,525 (GRCm39) |
N663S |
probably damaging |
Het |
Casz1 |
T |
A |
4: 149,028,848 (GRCm39) |
S1098T |
probably benign |
Het |
Cd55b |
A |
T |
1: 130,347,535 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,384,531 (GRCm39) |
L2583P |
probably damaging |
Het |
Clec4a1 |
A |
C |
6: 122,909,106 (GRCm39) |
|
probably null |
Het |
Corin |
T |
C |
5: 72,490,016 (GRCm39) |
N653S |
probably damaging |
Het |
Dhx36 |
T |
C |
3: 62,414,155 (GRCm39) |
E69G |
probably benign |
Het |
Dpy19l1 |
C |
A |
9: 24,350,009 (GRCm39) |
|
probably benign |
Het |
Fam184a |
T |
C |
10: 53,574,907 (GRCm39) |
N234S |
possibly damaging |
Het |
Foxg1 |
A |
G |
12: 49,432,331 (GRCm39) |
S355G |
probably benign |
Het |
Fsd1l |
T |
C |
4: 53,686,417 (GRCm39) |
S277P |
probably damaging |
Het |
Hadh |
T |
A |
3: 131,029,284 (GRCm39) |
D245V |
probably damaging |
Het |
Jag2 |
G |
A |
12: 112,878,134 (GRCm39) |
|
probably benign |
Het |
Klhl18 |
A |
T |
9: 110,259,006 (GRCm39) |
|
probably benign |
Het |
Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
Mcoln2 |
A |
G |
3: 145,875,799 (GRCm39) |
Y89C |
probably benign |
Het |
Mug1 |
A |
T |
6: 121,817,024 (GRCm39) |
Y31F |
possibly damaging |
Het |
Ndufb5 |
A |
G |
3: 32,791,348 (GRCm39) |
T32A |
probably benign |
Het |
Nub1 |
C |
T |
5: 24,908,462 (GRCm39) |
H404Y |
possibly damaging |
Het |
Nudt6 |
A |
G |
3: 37,459,320 (GRCm39) |
Y222H |
probably benign |
Het |
Or4x6 |
A |
T |
2: 89,949,201 (GRCm39) |
L247* |
probably null |
Het |
Pla2g4c |
A |
T |
7: 13,069,302 (GRCm39) |
R159* |
probably null |
Het |
Pnpla7 |
A |
G |
2: 24,940,957 (GRCm39) |
D1103G |
probably damaging |
Het |
Pof1b |
T |
G |
X: 111,554,934 (GRCm39) |
|
probably benign |
Het |
Prrg2 |
C |
T |
7: 44,706,166 (GRCm39) |
|
probably null |
Het |
Rab3gap1 |
A |
G |
1: 127,837,600 (GRCm39) |
T221A |
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,526,541 (GRCm39) |
N1244D |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Rnf123 |
A |
T |
9: 107,947,988 (GRCm39) |
|
probably benign |
Het |
Rnf44 |
T |
G |
13: 54,830,875 (GRCm39) |
Q207P |
possibly damaging |
Het |
Slc5a4a |
T |
A |
10: 75,983,413 (GRCm39) |
S17T |
unknown |
Het |
Smc4 |
G |
T |
3: 68,933,206 (GRCm39) |
C609F |
probably damaging |
Het |
Sync |
T |
C |
4: 129,187,744 (GRCm39) |
F259L |
probably damaging |
Het |
Tas2r113 |
T |
C |
6: 132,870,299 (GRCm39) |
L109P |
probably damaging |
Het |
Tjp2 |
C |
A |
19: 24,099,743 (GRCm39) |
|
probably benign |
Het |
Tmem30a |
C |
A |
9: 79,683,531 (GRCm39) |
|
probably benign |
Het |
Unc80 |
T |
C |
1: 66,522,476 (GRCm39) |
V226A |
possibly damaging |
Het |
Upk2 |
A |
T |
9: 44,365,436 (GRCm39) |
L44Q |
probably damaging |
Het |
Usp42 |
T |
C |
5: 143,708,909 (GRCm39) |
Y203C |
possibly damaging |
Het |
Vmn1r28 |
A |
T |
6: 58,242,801 (GRCm39) |
I215F |
probably benign |
Het |
Zswim2 |
A |
G |
2: 83,755,553 (GRCm39) |
V116A |
possibly damaging |
Het |
|
Other mutations in Serpina3g |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R5552:Serpina3g
|
UTSW |
12 |
104,206,595 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
|
Posted On |
2015-04-16 |