Incidental Mutation 'R4466:Serpina3g'
ID |
330362 |
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 |
041723-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R4466 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
104202504-104208198 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 104204182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043315]
[ENSMUST00000170628]
[ENSMUST00000171916]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043315
|
SMART Domains |
Protein: ENSMUSP00000041250 Gene: ENSMUSG00000041481
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (55/56) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449A18Rik |
A |
T |
3: 59,745,887 (GRCm39) |
|
noncoding transcript |
Het |
Adgra1 |
T |
A |
7: 139,420,752 (GRCm39) |
|
probably benign |
Het |
Akap13 |
T |
A |
7: 75,252,521 (GRCm39) |
|
probably null |
Het |
Amn1 |
T |
C |
6: 149,068,343 (GRCm39) |
|
probably null |
Het |
Ano5 |
T |
A |
7: 51,220,023 (GRCm39) |
F374I |
probably damaging |
Het |
Apol7c |
T |
C |
15: 77,410,664 (GRCm39) |
E94G |
probably benign |
Het |
Arid4b |
A |
T |
13: 14,307,095 (GRCm39) |
S117C |
probably damaging |
Het |
Atm |
C |
A |
9: 53,359,469 (GRCm39) |
E2778* |
probably null |
Het |
Cped1 |
A |
T |
6: 22,123,651 (GRCm39) |
Q468L |
probably benign |
Het |
Crygb |
A |
G |
1: 65,119,645 (GRCm39) |
S112P |
probably damaging |
Het |
Eeig2 |
T |
A |
3: 108,887,124 (GRCm39) |
R291S |
probably benign |
Het |
Eml4 |
C |
T |
17: 83,729,103 (GRCm39) |
Q93* |
probably null |
Het |
Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fhad1 |
A |
T |
4: 141,684,969 (GRCm39) |
S457T |
probably damaging |
Het |
Frmd4b |
A |
G |
6: 97,300,614 (GRCm39) |
|
probably null |
Het |
Gm5134 |
G |
C |
10: 75,844,409 (GRCm39) |
K588N |
probably benign |
Het |
Gpr21 |
A |
G |
2: 37,407,570 (GRCm39) |
T39A |
probably benign |
Het |
Irx1 |
C |
A |
13: 72,108,101 (GRCm39) |
G194W |
probably damaging |
Het |
Itgal |
C |
T |
7: 126,927,684 (GRCm39) |
T992I |
possibly damaging |
Het |
Itpr3 |
T |
C |
17: 27,325,316 (GRCm39) |
L1303P |
probably damaging |
Het |
Kdm2a |
A |
T |
19: 4,370,328 (GRCm39) |
D1052E |
probably damaging |
Het |
Klhl6 |
T |
C |
16: 19,776,018 (GRCm39) |
D180G |
probably damaging |
Het |
M6pr |
A |
G |
6: 122,290,228 (GRCm39) |
T64A |
probably benign |
Het |
Mrpl47 |
G |
A |
3: 32,784,240 (GRCm39) |
R177* |
probably null |
Het |
Mtfr2 |
A |
G |
10: 20,224,159 (GRCm39) |
Y31C |
probably damaging |
Het |
Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
Oas2 |
A |
G |
5: 120,887,667 (GRCm39) |
S58P |
probably damaging |
Het |
Or1j11 |
A |
T |
2: 36,312,308 (GRCm39) |
R299S |
probably benign |
Het |
Or5b124 |
G |
A |
19: 13,610,801 (GRCm39) |
E109K |
probably damaging |
Het |
Or8b36 |
T |
A |
9: 37,937,479 (GRCm39) |
C126S |
probably damaging |
Het |
Polr1b |
A |
T |
2: 128,965,802 (GRCm39) |
I815L |
probably benign |
Het |
Psma8 |
T |
C |
18: 14,854,231 (GRCm39) |
I37T |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,483,447 (GRCm39) |
E4100G |
possibly damaging |
Het |
Serpina3m |
A |
T |
12: 104,357,874 (GRCm39) |
Y266F |
probably damaging |
Het |
Sez6l2 |
T |
A |
7: 126,559,023 (GRCm39) |
D423E |
probably damaging |
Het |
Sh3gl2 |
A |
G |
4: 85,299,688 (GRCm39) |
E224G |
possibly damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,353,146 (GRCm39) |
V105A |
possibly damaging |
Het |
Slc24a2 |
A |
T |
4: 87,146,099 (GRCm39) |
|
probably benign |
Het |
Smyd2 |
A |
G |
1: 189,614,349 (GRCm39) |
M393T |
probably benign |
Het |
Sox8 |
C |
A |
17: 25,787,879 (GRCm39) |
G190V |
probably benign |
Het |
Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
Stk35 |
C |
A |
2: 129,643,436 (GRCm39) |
T140K |
probably damaging |
Het |
Taf6 |
A |
C |
5: 138,179,463 (GRCm39) |
|
probably benign |
Het |
Ten1 |
A |
C |
11: 116,095,823 (GRCm39) |
|
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,544,044 (GRCm39) |
F32981L |
probably damaging |
Het |
Zik1 |
G |
T |
7: 10,224,893 (GRCm39) |
T68K |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,815,485 (GRCm39) |
I2935N |
probably 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 |
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 |
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'- ATGCTCTAGATCCACCTCACTG -3'
(R):5'- TCCCTGGCTGACTTAGAAGG -3'
Sequencing Primer
(F):5'- TTCTTAAACAGGTCACCGGG -3'
(R):5'- CTGACTTAGAAGGTCTAGCAAGTACC -3'
|
Posted On |
2015-07-21 |