Incidental Mutation 'IGL01930:Serpina3n'
ID |
180403 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpina3n
|
Ensembl Gene |
ENSMUSG00000021091 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3N |
Synonyms |
antitrypsin, Spi2/eb.4, alpha-1 antiproteinase, Spi2-2, Spi2.2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01930
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
104372988-104380588 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104375231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 101
(L101H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021506
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021506]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021506
AA Change: L101H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021506 Gene: ENSMUSG00000021091 AA Change: L101H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
SERPIN
|
56 |
417 |
7.64e-194 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433N12Rik |
C |
T |
9: 3,134,875 (GRCm39) |
|
noncoding transcript |
Het |
Acsf3 |
A |
G |
8: 123,507,085 (GRCm39) |
Y126C |
probably benign |
Het |
Akr1c20 |
T |
A |
13: 4,557,647 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
T |
C |
2: 120,557,063 (GRCm39) |
|
probably benign |
Het |
Cdc42bpg |
C |
T |
19: 6,361,398 (GRCm39) |
A308V |
probably damaging |
Het |
Dek |
T |
C |
13: 47,241,611 (GRCm39) |
I318V |
probably benign |
Het |
Dvl1 |
A |
G |
4: 155,940,645 (GRCm39) |
M422V |
possibly damaging |
Het |
Dync2i1 |
A |
G |
12: 116,189,583 (GRCm39) |
|
probably null |
Het |
Erbin |
G |
A |
13: 103,977,680 (GRCm39) |
L626F |
probably damaging |
Het |
Fa2h |
A |
T |
8: 112,075,936 (GRCm39) |
V229E |
possibly damaging |
Het |
Gfpt1 |
T |
A |
6: 87,036,397 (GRCm39) |
H193Q |
possibly damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gpr162 |
A |
G |
6: 124,838,575 (GRCm39) |
L25P |
possibly damaging |
Het |
Hsd3b5 |
T |
C |
3: 98,529,475 (GRCm39) |
T52A |
probably benign |
Het |
Megf8 |
T |
A |
7: 25,034,286 (GRCm39) |
V668D |
probably damaging |
Het |
Or10j2 |
T |
C |
1: 173,098,177 (GRCm39) |
V145A |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,516,751 (GRCm39) |
T1042A |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,130,857 (GRCm39) |
S735P |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,145,978 (GRCm39) |
D1674G |
probably damaging |
Het |
Sval3 |
A |
G |
6: 41,949,455 (GRCm39) |
N98D |
probably benign |
Het |
Tbc1d16 |
G |
A |
11: 119,046,901 (GRCm39) |
R449C |
possibly damaging |
Het |
Tm7sf3 |
A |
C |
6: 146,512,431 (GRCm39) |
I321S |
possibly damaging |
Het |
Tmem273 |
G |
A |
14: 32,538,814 (GRCm39) |
E92K |
probably benign |
Het |
Trappc13 |
A |
G |
13: 104,284,586 (GRCm39) |
|
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Wdr76 |
A |
G |
2: 121,341,303 (GRCm39) |
D116G |
possibly damaging |
Het |
Zscan18 |
T |
C |
7: 12,509,275 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Serpina3n |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00534:Serpina3n
|
APN |
12 |
104,378,604 (GRCm39) |
missense |
probably benign |
0.39 |
IGL01989:Serpina3n
|
APN |
12 |
104,379,750 (GRCm39) |
missense |
probably benign |
|
IGL02419:Serpina3n
|
APN |
12 |
104,379,777 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0098:Serpina3n
|
UTSW |
12 |
104,379,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R0098:Serpina3n
|
UTSW |
12 |
104,379,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R0149:Serpina3n
|
UTSW |
12 |
104,377,635 (GRCm39) |
missense |
probably benign |
0.03 |
R1872:Serpina3n
|
UTSW |
12 |
104,375,203 (GRCm39) |
missense |
probably benign |
0.33 |
R1879:Serpina3n
|
UTSW |
12 |
104,375,213 (GRCm39) |
missense |
probably benign |
0.16 |
R2018:Serpina3n
|
UTSW |
12 |
104,375,473 (GRCm39) |
missense |
probably damaging |
0.97 |
R2315:Serpina3n
|
UTSW |
12 |
104,378,627 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2968:Serpina3n
|
UTSW |
12 |
104,375,333 (GRCm39) |
missense |
probably benign |
0.12 |
R2969:Serpina3n
|
UTSW |
12 |
104,375,333 (GRCm39) |
missense |
probably benign |
0.12 |
R2970:Serpina3n
|
UTSW |
12 |
104,375,333 (GRCm39) |
missense |
probably benign |
0.12 |
R3409:Serpina3n
|
UTSW |
12 |
104,377,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3410:Serpina3n
|
UTSW |
12 |
104,377,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3411:Serpina3n
|
UTSW |
12 |
104,377,536 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4030:Serpina3n
|
UTSW |
12 |
104,377,660 (GRCm39) |
critical splice donor site |
probably null |
|
R4388:Serpina3n
|
UTSW |
12 |
104,377,616 (GRCm39) |
missense |
probably benign |
0.11 |
R4659:Serpina3n
|
UTSW |
12 |
104,379,752 (GRCm39) |
missense |
probably benign |
0.03 |
R4728:Serpina3n
|
UTSW |
12 |
104,375,422 (GRCm39) |
missense |
probably benign |
|
R4783:Serpina3n
|
UTSW |
12 |
104,375,369 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5001:Serpina3n
|
UTSW |
12 |
104,374,998 (GRCm39) |
missense |
probably benign |
0.00 |
R5983:Serpina3n
|
UTSW |
12 |
104,375,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R6767:Serpina3n
|
UTSW |
12 |
104,375,321 (GRCm39) |
missense |
probably benign |
0.01 |
R7001:Serpina3n
|
UTSW |
12 |
104,375,184 (GRCm39) |
missense |
probably benign |
0.00 |
R7468:Serpina3n
|
UTSW |
12 |
104,377,656 (GRCm39) |
missense |
probably benign |
0.16 |
R9142:Serpina3n
|
UTSW |
12 |
104,379,710 (GRCm39) |
missense |
probably damaging |
0.96 |
R9180:Serpina3n
|
UTSW |
12 |
104,377,440 (GRCm39) |
missense |
probably benign |
0.00 |
R9478:Serpina3n
|
UTSW |
12 |
104,378,672 (GRCm39) |
missense |
possibly damaging |
0.56 |
X0027:Serpina3n
|
UTSW |
12 |
104,377,446 (GRCm39) |
missense |
probably benign |
0.00 |
X0067:Serpina3n
|
UTSW |
12 |
104,377,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |