Incidental Mutation 'R6384:Serpina3g'
ID |
515515 |
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 |
044533-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6384 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
104202504-104208198 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104206655 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 152
(Q152R)
|
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 null
Transcript: ENSMUST00000043315
AA Change: Q152R
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000041250 Gene: ENSMUSG00000041481 AA Change: Q152R
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
A |
5: 121,790,066 (GRCm39) |
T97S |
probably benign |
Het |
Adam34 |
T |
A |
8: 44,103,836 (GRCm39) |
D603V |
probably benign |
Het |
Adamts5 |
C |
T |
16: 85,659,716 (GRCm39) |
V859I |
probably benign |
Het |
Alb |
T |
A |
5: 90,620,499 (GRCm39) |
D536E |
possibly damaging |
Het |
Amz2 |
A |
G |
11: 109,319,860 (GRCm39) |
Y82C |
probably damaging |
Het |
Asxl1 |
T |
C |
2: 153,233,744 (GRCm39) |
|
probably null |
Het |
Bach1 |
C |
T |
16: 87,516,745 (GRCm39) |
Q429* |
probably null |
Het |
Bcl6 |
A |
G |
16: 23,793,615 (GRCm39) |
Y111H |
probably damaging |
Het |
Ccnj |
T |
C |
19: 40,834,451 (GRCm39) |
V338A |
probably benign |
Het |
Cdca3 |
C |
T |
6: 124,809,382 (GRCm39) |
P174L |
probably damaging |
Het |
Cdk17 |
T |
C |
10: 93,047,827 (GRCm39) |
L25P |
probably damaging |
Het |
Cdr2 |
G |
A |
7: 120,581,351 (GRCm39) |
|
probably null |
Het |
Cyp2c38 |
A |
T |
19: 39,380,737 (GRCm39) |
|
probably null |
Het |
Ednra |
T |
C |
8: 78,415,723 (GRCm39) |
N175D |
probably damaging |
Het |
Elp3 |
T |
C |
14: 65,797,660 (GRCm39) |
Y337C |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Eps15l1 |
A |
T |
8: 73,122,554 (GRCm39) |
|
probably null |
Het |
F11r |
A |
G |
1: 171,288,508 (GRCm39) |
N117S |
probably benign |
Het |
Foxp2 |
C |
T |
6: 15,437,947 (GRCm39) |
T716I |
probably damaging |
Het |
Gnaq |
A |
G |
19: 16,293,377 (GRCm39) |
|
probably null |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Gpr158 |
T |
C |
2: 21,831,099 (GRCm39) |
M733T |
probably damaging |
Het |
Hdac7 |
G |
A |
15: 97,709,387 (GRCm39) |
Q48* |
probably null |
Het |
Hmga2 |
G |
A |
10: 120,206,612 (GRCm39) |
|
probably benign |
Het |
Itgb7 |
A |
G |
15: 102,132,886 (GRCm39) |
V142A |
probably benign |
Het |
Kif5a |
T |
C |
10: 127,078,644 (GRCm39) |
N334D |
probably damaging |
Het |
Lrrc47 |
T |
C |
4: 154,100,317 (GRCm39) |
S298P |
probably benign |
Het |
Map3k1 |
A |
T |
13: 111,887,064 (GRCm39) |
S1415R |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,670,607 (GRCm39) |
L424Q |
probably damaging |
Het |
Numb |
A |
C |
12: 83,850,748 (GRCm39) |
L154R |
probably damaging |
Het |
Or8g27 |
T |
C |
9: 39,129,274 (GRCm39) |
V207A |
probably benign |
Het |
Or8k30 |
A |
G |
2: 86,339,381 (GRCm39) |
K193E |
probably benign |
Het |
Pdcd5 |
G |
T |
7: 35,346,334 (GRCm39) |
A92E |
possibly damaging |
Het |
Pdcl2 |
C |
T |
5: 76,478,855 (GRCm39) |
|
probably null |
Het |
Rbfa |
T |
C |
18: 80,235,996 (GRCm39) |
Y251C |
probably damaging |
Het |
Rgsl1 |
G |
A |
1: 153,703,291 (GRCm39) |
T120I |
possibly damaging |
Het |
Setx |
T |
C |
2: 29,063,570 (GRCm39) |
S2289P |
probably damaging |
Het |
Slc6a16 |
A |
G |
7: 44,907,017 (GRCm39) |
|
probably null |
Het |
Slco1a6 |
C |
T |
6: 142,055,105 (GRCm39) |
D280N |
probably benign |
Het |
Syde2 |
T |
A |
3: 145,704,568 (GRCm39) |
Y240N |
probably damaging |
Het |
Synpo2 |
G |
A |
3: 122,906,698 (GRCm39) |
Q873* |
probably null |
Het |
Tlr2 |
A |
G |
3: 83,744,301 (GRCm39) |
V594A |
probably benign |
Het |
Ttc16 |
C |
T |
2: 32,657,561 (GRCm39) |
A512T |
probably damaging |
Het |
Tubb5 |
T |
C |
17: 36,148,938 (GRCm39) |
E3G |
probably damaging |
Het |
Vmn2r112 |
T |
C |
17: 22,824,136 (GRCm39) |
Y464H |
probably damaging |
Het |
Xcr1 |
T |
A |
9: 123,684,847 (GRCm39) |
H305L |
probably damaging |
Het |
Yars1 |
T |
G |
4: 129,090,771 (GRCm39) |
|
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 |
|
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 |
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'- CTCTGTGTAGAGGAGCCAAG -3'
(R):5'- ATGTAGGGACTGGCTGCATG -3'
Sequencing Primer
(F):5'- GCCAAGCAGCACAGTGGAC -3'
(R):5'- GCTCTCAGCAAGATTATCTAGGG -3'
|
Posted On |
2018-05-04 |