Incidental Mutation 'IGL02055:Serpina3k'
ID |
185189 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
IGL02055
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
104304745-104311998 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 104307295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 176
(K176*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043058]
[ENSMUST00000101078]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000043058
AA Change: K176*
|
SMART Domains |
Protein: ENSMUSP00000042095 Gene: ENSMUSG00000058207 AA Change: K176*
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap1b1 |
T |
A |
11: 4,974,452 (GRCm39) |
C353* |
probably null |
Het |
Asl |
C |
T |
5: 130,041,891 (GRCm39) |
G309R |
possibly damaging |
Het |
B4galnt4 |
T |
C |
7: 140,650,731 (GRCm39) |
F835S |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,177,457 (GRCm39) |
T1921A |
probably damaging |
Het |
Carmil2 |
A |
G |
8: 106,423,539 (GRCm39) |
|
probably benign |
Het |
Ccnt2 |
C |
A |
1: 127,719,447 (GRCm39) |
P116T |
possibly damaging |
Het |
Clcn1 |
T |
G |
6: 42,284,489 (GRCm39) |
M609R |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 16,119,015 (GRCm39) |
I1858T |
probably damaging |
Het |
Eefsec |
T |
C |
6: 88,353,385 (GRCm39) |
I95V |
probably damaging |
Het |
Galk2 |
A |
G |
2: 125,773,324 (GRCm39) |
K252R |
probably benign |
Het |
Gbp2 |
A |
T |
3: 142,337,991 (GRCm39) |
N369I |
probably benign |
Het |
Glis2 |
G |
T |
16: 4,431,972 (GRCm39) |
|
probably benign |
Het |
Igdcc3 |
T |
C |
9: 65,088,562 (GRCm39) |
V388A |
possibly damaging |
Het |
Klhl1 |
A |
G |
14: 96,517,539 (GRCm39) |
F379S |
possibly damaging |
Het |
Or5b12 |
T |
A |
19: 12,896,930 (GRCm39) |
I248F |
possibly damaging |
Het |
Pigm |
C |
T |
1: 172,204,732 (GRCm39) |
S156L |
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,277,703 (GRCm39) |
|
probably null |
Het |
Ppp6r3 |
A |
G |
19: 3,571,781 (GRCm39) |
F123L |
probably benign |
Het |
Pum1 |
C |
A |
4: 130,481,365 (GRCm39) |
S637R |
probably benign |
Het |
Rp1 |
A |
G |
1: 4,422,745 (GRCm39) |
S112P |
probably damaging |
Het |
Smad4 |
A |
G |
18: 73,774,999 (GRCm39) |
|
probably benign |
Het |
Tas2r140 |
T |
A |
6: 40,468,493 (GRCm39) |
F108I |
probably damaging |
Het |
Tbc1d20 |
G |
A |
2: 152,149,978 (GRCm39) |
R73H |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,817,673 (GRCm39) |
|
probably null |
Het |
Tmem86b |
A |
C |
7: 4,631,762 (GRCm39) |
|
probably benign |
Het |
Trav6-4 |
G |
A |
14: 53,692,237 (GRCm39) |
V115I |
probably benign |
Het |
Trim37 |
T |
G |
11: 87,057,475 (GRCm39) |
V303G |
probably benign |
Het |
Trpc7 |
C |
T |
13: 57,035,357 (GRCm39) |
R192Q |
probably benign |
Het |
Ush1g |
T |
C |
11: 115,208,925 (GRCm39) |
D423G |
possibly damaging |
Het |
Veph1 |
T |
A |
3: 66,113,048 (GRCm39) |
D252V |
possibly damaging |
Het |
Vmn1r181 |
T |
G |
7: 23,683,978 (GRCm39) |
L148V |
probably damaging |
Het |
Vmn1r42 |
T |
C |
6: 89,822,571 (GRCm39) |
|
probably benign |
Het |
Vmn2r77 |
T |
A |
7: 86,450,763 (GRCm39) |
H216Q |
probably benign |
Het |
Zfp39 |
A |
G |
11: 58,782,156 (GRCm39) |
V202A |
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 |
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 |
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 |
|
Posted On |
2014-05-07 |