Incidental Mutation 'R2403:Serpina3g'
| ID |
248833 |
| 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 |
040369-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R2403 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104202504-104208198 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 104207421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 195
(L195M)
|
| 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: L195M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041250
Gene: ENSMUSG00000041481
AA Change: L195M
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
| 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 |
|---|
| Abca4 |
A |
G |
3: 121,964,592 (GRCm39) |
E925G |
probably damaging |
Het |
| Abca9 |
T |
G |
11: 110,006,280 (GRCm39) |
Q1275P |
probably benign |
Het |
| Adgrl1 |
T |
A |
8: 84,657,870 (GRCm39) |
M492K |
probably benign |
Het |
| Ankrd50 |
T |
A |
3: 38,537,234 (GRCm39) |
K3* |
probably null |
Het |
| Arl5b |
T |
C |
2: 15,079,848 (GRCm39) |
S140P |
probably damaging |
Het |
| Armc1 |
T |
C |
3: 19,211,840 (GRCm39) |
|
probably benign |
Het |
| Ascc1 |
T |
C |
10: 59,840,663 (GRCm39) |
I8T |
probably benign |
Het |
| Bche |
A |
G |
3: 73,608,805 (GRCm39) |
V207A |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,627,259 (GRCm39) |
L1080P |
probably benign |
Het |
| Ceacam3 |
C |
A |
7: 16,895,779 (GRCm39) |
A583D |
probably damaging |
Het |
| Cep290 |
C |
T |
10: 100,373,299 (GRCm39) |
A1193V |
probably benign |
Het |
| Clcn1 |
T |
C |
6: 42,290,046 (GRCm39) |
I827T |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,175,641 (GRCm39) |
D69G |
possibly damaging |
Het |
| Cts3 |
A |
G |
13: 61,712,806 (GRCm39) |
W305R |
probably damaging |
Het |
| Dmwd |
T |
C |
7: 18,815,084 (GRCm39) |
I578T |
possibly damaging |
Het |
| Dnmt3a |
G |
A |
12: 3,949,883 (GRCm39) |
V559M |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,016,549 (GRCm39) |
V70A |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,752,434 (GRCm39) |
V993A |
probably benign |
Het |
| Etl4 |
T |
A |
2: 20,812,117 (GRCm39) |
L1768* |
probably null |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fat3 |
T |
G |
9: 15,881,167 (GRCm39) |
D3235A |
probably damaging |
Het |
| Fbxo36 |
T |
A |
1: 84,877,823 (GRCm39) |
F162I |
probably damaging |
Het |
| Fgfrl1 |
T |
C |
5: 108,852,897 (GRCm39) |
W200R |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,811,064 (GRCm39) |
M2461T |
possibly damaging |
Het |
| Fut1 |
A |
G |
7: 45,268,643 (GRCm39) |
Y144C |
probably benign |
Het |
| Gprin3 |
G |
A |
6: 59,331,134 (GRCm39) |
A391V |
probably benign |
Het |
| H2-Q4 |
A |
G |
17: 35,598,973 (GRCm39) |
E81G |
probably damaging |
Het |
| Hacd3 |
A |
G |
9: 64,908,311 (GRCm39) |
S162P |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,114,150 (GRCm39) |
H918Q |
probably benign |
Het |
| Lrp5 |
C |
A |
19: 3,647,430 (GRCm39) |
D1271Y |
probably damaging |
Het |
| Lsm8 |
C |
T |
6: 18,849,643 (GRCm39) |
T17I |
probably benign |
Het |
| Mup4 |
T |
A |
4: 59,958,145 (GRCm39) |
D141V |
probably damaging |
Het |
| Nckap5 |
G |
A |
1: 125,955,146 (GRCm39) |
H405Y |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or12k8 |
T |
C |
2: 36,974,986 (GRCm39) |
Y258C |
probably benign |
Het |
| Ostf1 |
T |
C |
19: 18,562,026 (GRCm39) |
K190R |
probably benign |
Het |
| Pnldc1 |
A |
T |
17: 13,118,777 (GRCm39) |
V197E |
probably damaging |
Het |
| Ptprc |
A |
G |
1: 138,016,270 (GRCm39) |
S531P |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,516,973 (GRCm39) |
E3318K |
probably damaging |
Het |
| Scamp2 |
T |
C |
9: 57,484,995 (GRCm39) |
V67A |
possibly damaging |
Het |
| Siglec1 |
G |
T |
2: 130,916,395 (GRCm39) |
T1185N |
possibly damaging |
Het |
| Sycp2 |
G |
A |
2: 178,045,528 (GRCm39) |
Q31* |
probably null |
Het |
| Tmprss15 |
T |
G |
16: 78,854,578 (GRCm39) |
T277P |
probably damaging |
Het |
| Trim34b |
C |
T |
7: 103,978,876 (GRCm39) |
S41L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,557,705 (GRCm39) |
T21507A |
possibly damaging |
Het |
| Umad1 |
T |
C |
6: 8,427,161 (GRCm39) |
V138A |
possibly damaging |
Het |
| Zfp523 |
A |
G |
17: 28,414,183 (GRCm39) |
I72M |
probably damaging |
Het |
| Zfp655 |
C |
T |
5: 145,181,356 (GRCm39) |
R405C |
probably benign |
Het |
| Zfp715 |
G |
A |
7: 42,948,692 (GRCm39) |
R423C |
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 |
|
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 |
|
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'- CTCACTGTTTGCTCAAGACACTG -3'
(R):5'- CTTTCTCTGCATGAGGACGTG -3'
Sequencing Primer
(F):5'- GCTCAAGACACTGTTCCTGC -3'
(R):5'- CGTGACAGAGTTGGTAAGTGTCAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation