Incidental Mutation 'R6858:Serpina3k'
| ID |
535383 |
| 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 |
044960-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R6858 (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 A
at 104311504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 361
(A361T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043058]
[ENSMUST00000101078]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043058
AA Change: A361T
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042095
Gene: ENSMUSG00000058207
AA Change: A361T
| 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 |
0.4598 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
96% (49/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldob |
T |
C |
4: 49,538,796 (GRCm39) |
T241A |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,070,283 (GRCm39) |
I65V |
probably benign |
Het |
| Bhmt2 |
C |
T |
13: 93,807,948 (GRCm39) |
E47K |
probably damaging |
Het |
| Bpifa3 |
G |
A |
2: 153,979,514 (GRCm39) |
G213D |
probably benign |
Het |
| C4b |
C |
G |
17: 34,948,805 (GRCm39) |
A1548P |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,874,017 (GRCm39) |
V605A |
probably damaging |
Het |
| Cept1 |
A |
T |
3: 106,420,195 (GRCm39) |
|
probably null |
Het |
| Cntrl |
T |
C |
2: 35,052,107 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,385,144 (GRCm39) |
D87G |
probably damaging |
Het |
| Crim1 |
A |
T |
17: 78,623,056 (GRCm39) |
E418V |
probably damaging |
Het |
| Crtac1 |
T |
C |
19: 42,307,174 (GRCm39) |
I196M |
possibly damaging |
Het |
| Crtap |
T |
C |
9: 114,209,084 (GRCm39) |
Y320C |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,448,452 (GRCm39) |
V27A |
probably damaging |
Het |
| Cyp2c69 |
G |
A |
19: 39,866,009 (GRCm39) |
L195F |
probably benign |
Het |
| Cyp2d26 |
G |
A |
15: 82,678,284 (GRCm39) |
R31C |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fign |
G |
T |
2: 63,810,157 (GRCm39) |
T371K |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,222,375 (GRCm39) |
T2069A |
probably damaging |
Het |
| Gm3486 |
A |
G |
14: 41,210,322 (GRCm39) |
I53T |
probably damaging |
Het |
| Gprc5d |
T |
C |
6: 135,093,313 (GRCm39) |
N198S |
possibly damaging |
Het |
| Ighv1-42 |
A |
G |
12: 114,900,966 (GRCm39) |
S40P |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,204,892 (GRCm39) |
V515A |
probably benign |
Het |
| Kidins220 |
A |
T |
12: 25,058,542 (GRCm39) |
I523L |
possibly damaging |
Het |
| Lmx1a |
A |
T |
1: 167,660,450 (GRCm39) |
N245I |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,795,949 (GRCm39) |
D157G |
possibly damaging |
Het |
| Ola1 |
T |
C |
2: 72,927,574 (GRCm39) |
H335R |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,925 (GRCm39) |
M199L |
probably benign |
Het |
| Or4c12 |
A |
G |
2: 89,774,087 (GRCm39) |
I124T |
probably damaging |
Het |
| Or6c213 |
A |
G |
10: 129,574,333 (GRCm39) |
F151S |
probably damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,765 (GRCm39) |
I214T |
probably damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,034 (GRCm39) |
I256T |
probably benign |
Het |
| Pde1a |
T |
A |
2: 79,959,502 (GRCm39) |
|
probably benign |
Het |
| Pdgfrb |
G |
A |
18: 61,198,219 (GRCm39) |
G304D |
probably benign |
Het |
| Potegl |
T |
C |
2: 23,102,676 (GRCm39) |
V138A |
possibly damaging |
Het |
| Prune2 |
T |
A |
19: 17,095,470 (GRCm39) |
C325S |
possibly damaging |
Het |
| Ptk2b |
T |
C |
14: 66,450,847 (GRCm39) |
I40V |
probably damaging |
Het |
| Qrich1 |
A |
G |
9: 108,411,333 (GRCm39) |
D286G |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,321,156 (GRCm39) |
I1469V |
probably benign |
Het |
| Slc25a23 |
A |
G |
17: 57,365,171 (GRCm39) |
Y73H |
probably damaging |
Het |
| Tmco3 |
A |
G |
8: 13,363,924 (GRCm39) |
D82G |
probably damaging |
Het |
| Trbv28 |
G |
T |
6: 41,248,624 (GRCm39) |
M51I |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,165,828 (GRCm39) |
H204L |
possibly damaging |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Vmn1r25 |
T |
C |
6: 57,955,996 (GRCm39) |
S98G |
probably benign |
Het |
| Vmn2r2 |
A |
G |
3: 64,044,915 (GRCm39) |
F77S |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,580 (GRCm39) |
M654L |
probably benign |
Het |
| Zfp985 |
A |
T |
4: 147,667,764 (GRCm39) |
K211* |
probably null |
Het |
| Zwilch |
C |
T |
9: 64,060,869 (GRCm39) |
D328N |
probably 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 |
|
R6343:Serpina3k
|
UTSW |
12 |
104,311,562 (GRCm39) |
missense |
probably benign |
|
|
R6851:Serpina3k
|
UTSW |
12 |
104,311,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GATTCAGACACTGAGCAGACC -3'
(R):5'- AACTTGGTGAGCTTTAGGTCTAC -3'
Sequencing Primer
(F):5'- AGGGCCTGCCTCATCTCAC -3'
(R):5'- CTACTTGGGGTTATTGACTTTGGCC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation