Incidental Mutation 'R0702:Serpina3g'
| ID |
63061 |
| 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 |
038885-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0702 (G1)
|
| Quality Score |
120 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104202504-104208198 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104207512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 225
(E225G)
|
| 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: E225G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000041250
Gene: ENSMUSG00000041481
AA Change: E225G
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd11 |
A |
T |
8: 123,616,505 (GRCm39) |
I2428N |
probably damaging |
Het |
| Ano9 |
A |
G |
7: 140,687,195 (GRCm39) |
V348A |
probably damaging |
Het |
| Cfap69 |
A |
G |
5: 5,694,465 (GRCm39) |
I132T |
probably benign |
Het |
| Chd1l |
C |
T |
3: 97,474,110 (GRCm39) |
D791N |
probably benign |
Het |
| Chl1 |
A |
G |
6: 103,683,583 (GRCm39) |
Y819C |
probably damaging |
Het |
| Col5a2 |
T |
A |
1: 45,419,291 (GRCm39) |
D1263V |
possibly damaging |
Het |
| Csnk1g1 |
C |
T |
9: 65,917,775 (GRCm39) |
R45W |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dgat2l6 |
G |
A |
X: 99,586,287 (GRCm39) |
V180M |
probably damaging |
Het |
| Fscb |
G |
A |
12: 64,518,775 (GRCm39) |
P897L |
unknown |
Het |
| Herc6 |
T |
C |
6: 57,558,092 (GRCm39) |
L24P |
probably damaging |
Het |
| Il23r |
T |
A |
6: 67,443,269 (GRCm39) |
Q278L |
probably damaging |
Het |
| Kpna4 |
A |
T |
3: 68,991,438 (GRCm39) |
V361D |
probably damaging |
Het |
| Muc1 |
A |
G |
3: 89,137,527 (GRCm39) |
D123G |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,794,177 (GRCm39) |
Y722C |
probably damaging |
Het |
| Ntng1 |
G |
C |
3: 109,779,570 (GRCm39) |
R336G |
probably damaging |
Het |
| Or5ac17 |
T |
C |
16: 59,036,062 (GRCm39) |
M305V |
probably benign |
Het |
| Pgbd5 |
C |
T |
8: 125,100,994 (GRCm39) |
V421M |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,603,835 (GRCm39) |
T2950A |
possibly damaging |
Het |
| Proser3 |
A |
T |
7: 30,238,955 (GRCm39) |
D630E |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Slc2a13 |
T |
C |
15: 91,205,870 (GRCm39) |
D439G |
probably benign |
Het |
| Srebf2 |
T |
C |
15: 82,061,610 (GRCm39) |
L352P |
probably damaging |
Het |
| Trpc5 |
A |
G |
X: 143,194,735 (GRCm39) |
V590A |
probably damaging |
Het |
| Ubqln2 |
A |
T |
X: 152,282,665 (GRCm39) |
M406L |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCAAGACACTGTTCCTGCC -3'
(R):5'- AGTTAGGAGAGAGCCTCACTGCTG -3'
Sequencing Primer
(F):5'- CACAAGGCTGTGCTGGATG -3'
(R):5'- TAACACAAATTTCAGGTCAGGAAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation