Incidental Mutation 'R7050:Serpina3k'
| ID |
547544 |
| 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 |
045241-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R7050 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
104304745-104311998 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104307403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 212
(F212L)
|
| 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: F212L
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000042095
Gene: ENSMUSG00000058207
AA Change: F212L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,864,544 (GRCm39) |
A346V |
possibly damaging |
Het |
| Adcy5 |
A |
T |
16: 35,124,070 (GRCm39) |
M1250L |
possibly damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,839,388 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,716,446 (GRCm39) |
I1944N |
probably benign |
Het |
| Cabin1 |
G |
T |
10: 75,549,376 (GRCm39) |
P1343Q |
probably damaging |
Het |
| Cbr3 |
A |
T |
16: 93,487,282 (GRCm39) |
Q155L |
possibly damaging |
Het |
| Cd44 |
A |
G |
2: 102,644,482 (GRCm39) |
V577A |
probably damaging |
Het |
| Coil |
C |
T |
11: 88,872,014 (GRCm39) |
T125I |
possibly damaging |
Het |
| Fmo3 |
T |
C |
1: 162,791,473 (GRCm39) |
N268S |
probably damaging |
Het |
| Fnip2 |
T |
C |
3: 79,413,577 (GRCm39) |
T248A |
probably damaging |
Het |
| Ggt7 |
G |
A |
2: 155,348,295 (GRCm39) |
T43I |
probably benign |
Het |
| Gm3250 |
C |
A |
10: 77,617,814 (GRCm39) |
C188F |
possibly damaging |
Het |
| Iqce |
G |
A |
5: 140,651,846 (GRCm39) |
S375F |
possibly damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,006,220 (GRCm39) |
T544A |
probably damaging |
Het |
| Islr |
A |
G |
9: 58,065,000 (GRCm39) |
L169P |
probably damaging |
Het |
| Kdr |
G |
T |
5: 76,110,780 (GRCm39) |
T904N |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,503,158 (GRCm39) |
T974A |
possibly damaging |
Het |
| Mms19 |
A |
G |
19: 41,939,185 (GRCm39) |
|
probably null |
Het |
| Mycl |
T |
C |
4: 122,890,813 (GRCm39) |
|
probably null |
Het |
| Nab1 |
A |
T |
1: 52,529,894 (GRCm39) |
M1K |
probably null |
Het |
| Naip6 |
C |
T |
13: 100,452,007 (GRCm39) |
G202R |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,457,788 (GRCm39) |
S2159L |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,112,888 (GRCm39) |
M4302K |
possibly damaging |
Het |
| Npy1r |
A |
G |
8: 67,157,192 (GRCm39) |
D204G |
probably benign |
Het |
| Or2q1 |
T |
A |
6: 42,794,504 (GRCm39) |
V33D |
possibly damaging |
Het |
| Pkdcc |
T |
A |
17: 83,523,073 (GRCm39) |
I60N |
possibly damaging |
Het |
| Plcxd3 |
T |
C |
15: 4,546,200 (GRCm39) |
V68A |
probably damaging |
Het |
| Prss36 |
G |
T |
7: 127,543,937 (GRCm39) |
R145S |
possibly damaging |
Het |
| Pygl |
C |
A |
12: 70,266,396 (GRCm39) |
G40C |
probably damaging |
Het |
| Rev1 |
A |
G |
1: 38,093,352 (GRCm39) |
L1064P |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Slc16a4 |
A |
T |
3: 107,208,148 (GRCm39) |
E219D |
probably benign |
Het |
| Slc6a20b |
A |
T |
9: 123,427,608 (GRCm39) |
W434R |
probably damaging |
Het |
| Slco1c1 |
T |
A |
6: 141,493,652 (GRCm39) |
F278Y |
probably damaging |
Het |
| Tbx21 |
T |
G |
11: 97,005,596 (GRCm39) |
D123A |
probably benign |
Het |
| Trp73 |
A |
G |
4: 154,165,899 (GRCm39) |
F35L |
probably damaging |
Het |
| Tspan17 |
T |
C |
13: 54,943,876 (GRCm39) |
V135A |
probably benign |
Het |
| Uba2 |
G |
A |
7: 33,845,687 (GRCm39) |
Q479* |
probably null |
Het |
| Ubr2 |
A |
G |
17: 47,272,528 (GRCm39) |
V889A |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,590,067 (GRCm39) |
|
probably null |
Het |
| Vinac1 |
T |
C |
2: 128,869,891 (GRCm39) |
|
probably null |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,703 (GRCm39) |
I89N |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,202,657 (GRCm39) |
I140T |
probably benign |
Het |
| Yipf2 |
A |
T |
9: 21,503,474 (GRCm39) |
D24E |
probably benign |
Het |
| Zfp251 |
T |
G |
15: 76,738,496 (GRCm39) |
Q199P |
possibly damaging |
Het |
| Zfp37 |
A |
T |
4: 62,109,908 (GRCm39) |
N385K |
possibly damaging |
Het |
| Zfp655 |
G |
A |
5: 145,181,545 (GRCm39) |
E468K |
probably benign |
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 |
|
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 |
|
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'- AGAAGACAAGGGCTCTGTACC -3'
(R):5'- GCAGCCCTTGTAGACTGAGATC -3'
Sequencing Primer
(F):5'- TGTACCAGACTGAGGCCTTCAC -3'
(R):5'- AGATCTCAGGACTTCTCTTGAGCATG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation