Incidental Mutation 'R6343:Serpina3k'
| ID |
514019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina3k
|
| Ensembl Gene |
ENSMUSG00000058207 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3K |
| Synonyms |
Spi-2, alpha-1 antiproteinase, MMSpi2, 1300001I07Rik, RP54, contrapsin, Spi2, MMCM2, D12Rp54 |
| MMRRC Submission |
044497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6343 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
104304745-104311998 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 104311562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Alanine
at position 380
(G380A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043058]
[ENSMUST00000101078]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043058
AA Change: G380A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042095
Gene: ENSMUSG00000058207
AA Change: G380A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SERPIN
|
57 |
417 |
4.77e-195 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101078
|
| SMART Domains |
Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
3.12e-199 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,205,378 (GRCm39) |
L301Q |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,223,443 (GRCm39) |
L632P |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,527,562 (GRCm39) |
I539N |
probably benign |
Het |
| Camta1 |
T |
A |
4: 151,164,306 (GRCm39) |
H314L |
probably damaging |
Het |
| Car2 |
T |
C |
3: 14,953,025 (GRCm39) |
S56P |
probably damaging |
Het |
| Chrm5 |
G |
A |
2: 112,309,793 (GRCm39) |
A441V |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,426,819 (GRCm39) |
N1380K |
possibly damaging |
Het |
| Cspg4 |
T |
C |
9: 56,799,976 (GRCm39) |
V1580A |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,469,106 (GRCm39) |
L1099P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Epha5 |
A |
T |
5: 84,254,606 (GRCm39) |
H644Q |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,400,221 (GRCm39) |
I80T |
probably damaging |
Het |
| Fdft1 |
A |
T |
14: 63,388,721 (GRCm39) |
Y304N |
probably damaging |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Gpatch2l |
T |
A |
12: 86,307,379 (GRCm39) |
Y252* |
probably null |
Het |
| Hivep1 |
G |
T |
13: 42,313,147 (GRCm39) |
G1796* |
probably null |
Het |
| Irf8 |
T |
C |
8: 121,480,446 (GRCm39) |
V228A |
probably damaging |
Het |
| Islr |
A |
C |
9: 58,064,379 (GRCm39) |
V376G |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,359,894 (GRCm39) |
V230A |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,508,684 (GRCm39) |
|
probably null |
Het |
| Lrp8 |
T |
C |
4: 107,726,353 (GRCm39) |
|
probably null |
Het |
| Lyzl4 |
A |
C |
9: 121,407,150 (GRCm39) |
S127A |
possibly damaging |
Het |
| Map4k1 |
T |
C |
7: 28,699,715 (GRCm39) |
V606A |
possibly damaging |
Het |
| Mau2 |
T |
A |
8: 70,484,173 (GRCm39) |
K138N |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,261,592 (GRCm39) |
L33P |
probably damaging |
Het |
| Mrpl28 |
T |
C |
17: 26,345,252 (GRCm39) |
V224A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,640,964 (GRCm39) |
D512G |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,303,925 (GRCm39) |
Q200L |
possibly damaging |
Het |
| Nup98 |
T |
C |
7: 101,843,957 (GRCm39) |
N89S |
possibly damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
| Or52p2 |
A |
G |
7: 102,237,753 (GRCm39) |
C66R |
probably damaging |
Het |
| Or5b12 |
G |
T |
19: 12,896,946 (GRCm39) |
H242Q |
probably damaging |
Het |
| Or6c201 |
A |
T |
10: 128,969,535 (GRCm39) |
L34* |
probably null |
Het |
| Padi3 |
C |
T |
4: 140,530,819 (GRCm39) |
V68I |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,512,820 (GRCm39) |
M621K |
probably benign |
Het |
| Pigv |
C |
T |
4: 133,392,547 (GRCm39) |
V208M |
probably damaging |
Het |
| Ripk4 |
A |
G |
16: 97,564,726 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,310,124 (GRCm39) |
K285E |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,365,426 (GRCm39) |
|
probably null |
Het |
| Srrd |
G |
C |
5: 112,487,866 (GRCm39) |
A104G |
probably benign |
Het |
| Tbp |
T |
A |
17: 15,721,351 (GRCm39) |
|
probably null |
Het |
| Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,404,204 (GRCm39) |
L157P |
probably damaging |
Het |
| Tmprss13 |
A |
T |
9: 45,254,498 (GRCm39) |
T422S |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 86,003,473 (GRCm39) |
H1103R |
probably benign |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,223,049 (GRCm39) |
Y699C |
probably damaging |
Het |
| Vmn1r22 |
T |
G |
6: 57,877,563 (GRCm39) |
N138T |
possibly damaging |
Het |
|
| Other mutations in Serpina3k |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01331:Serpina3k
|
APN |
12 |
104,309,369 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01402:Serpina3k
|
APN |
12 |
104,306,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01404:Serpina3k
|
APN |
12 |
104,306,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01958:Serpina3k
|
APN |
12 |
104,307,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02031:Serpina3k
|
APN |
12 |
104,311,525 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02055:Serpina3k
|
APN |
12 |
104,307,295 (GRCm39) |
nonsense |
probably null |
|
|
IGL02981:Serpina3k
|
APN |
12 |
104,307,250 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03269:Serpina3k
|
APN |
12 |
104,306,780 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1076:Serpina3k
|
UTSW |
12 |
104,307,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2360:Serpina3k
|
UTSW |
12 |
104,307,166 (GRCm39) |
nonsense |
probably null |
|
|
R3816:Serpina3k
|
UTSW |
12 |
104,307,221 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4577:Serpina3k
|
UTSW |
12 |
104,310,451 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4656:Serpina3k
|
UTSW |
12 |
104,311,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Serpina3k
|
UTSW |
12 |
104,307,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Serpina3k
|
UTSW |
12 |
104,307,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Serpina3k
|
UTSW |
12 |
104,309,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4999:Serpina3k
|
UTSW |
12 |
104,307,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5053:Serpina3k
|
UTSW |
12 |
104,309,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6300:Serpina3k
|
UTSW |
12 |
104,306,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6851:Serpina3k
|
UTSW |
12 |
104,311,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6858:Serpina3k
|
UTSW |
12 |
104,311,504 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6872:Serpina3k
|
UTSW |
12 |
104,310,519 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6992:Serpina3k
|
UTSW |
12 |
104,307,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7025:Serpina3k
|
UTSW |
12 |
104,307,401 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7050:Serpina3k
|
UTSW |
12 |
104,307,403 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7238:Serpina3k
|
UTSW |
12 |
104,309,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7240:Serpina3k
|
UTSW |
12 |
104,306,861 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7469:Serpina3k
|
UTSW |
12 |
104,311,594 (GRCm39) |
missense |
not run |
|
|
R8837:Serpina3k
|
UTSW |
12 |
104,309,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9025:Serpina3k
|
UTSW |
12 |
104,307,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9497:Serpina3k
|
UTSW |
12 |
104,309,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0019:Serpina3k
|
UTSW |
12 |
104,306,834 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCCTGAGCAGAGACTTG -3'
(R):5'- CCATATGCAGACTCTGTCCC -3'
Sequencing Primer
(F):5'- CTTGGGAAATGCAGGATTAGAGCC -3'
(R):5'- CAGAGCCCTGGACAGAATCATG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation