Incidental Mutation 'IGL02228:Serpina9'
| ID |
285388 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpina9
|
| Ensembl Gene |
ENSMUSG00000058260 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 |
| Synonyms |
Centerin, 2310014L03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL02228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
103962877-103979911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103974859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 98
(R98Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058464]
[ENSMUST00000164023]
|
| AlphaFold |
Q9D7D2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058464
AA Change: R98Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000058535
Gene: ENSMUSG00000058260
AA Change: R98Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SERPIN
|
55 |
415 |
1.27e-158 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164023
AA Change: R98Q
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000130064
Gene: ENSMUSG00000058260
AA Change: R98Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SERPIN
|
55 |
205 |
8.9e-4 |
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 |
|---|
| Acot1 |
T |
C |
12: 84,063,738 (GRCm39) |
V282A |
probably benign |
Het |
| Acsm5 |
A |
G |
7: 119,131,089 (GRCm39) |
D169G |
probably damaging |
Het |
| Adam8 |
C |
T |
7: 139,568,719 (GRCm39) |
|
probably null |
Het |
| Agpat1 |
T |
C |
17: 34,829,536 (GRCm39) |
F37L |
possibly damaging |
Het |
| Asah2 |
A |
T |
19: 31,994,114 (GRCm39) |
D410E |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,296,830 (GRCm39) |
V378D |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,082,452 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Bnc2 |
T |
C |
4: 84,211,313 (GRCm39) |
H419R |
possibly damaging |
Het |
| Capza3 |
A |
G |
6: 139,987,641 (GRCm39) |
D80G |
probably benign |
Het |
| Col6a4 |
C |
T |
9: 105,945,277 (GRCm39) |
D946N |
probably benign |
Het |
| Crat |
T |
C |
2: 30,303,194 (GRCm39) |
H31R |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,176,790 (GRCm39) |
V419A |
probably damaging |
Het |
| Ebf1 |
T |
C |
11: 44,863,739 (GRCm39) |
V363A |
probably damaging |
Het |
| Lcp2 |
T |
C |
11: 33,997,424 (GRCm39) |
F24S |
probably damaging |
Het |
| Lgmn |
G |
A |
12: 102,361,973 (GRCm39) |
T376I |
probably benign |
Het |
| Lrrc8d |
C |
T |
5: 105,959,730 (GRCm39) |
L47F |
probably benign |
Het |
| Mier1 |
T |
A |
4: 102,988,259 (GRCm39) |
M44K |
possibly damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,789,615 (GRCm39) |
Q439K |
probably benign |
Het |
| Or6aa1 |
A |
C |
7: 86,044,286 (GRCm39) |
I140S |
possibly damaging |
Het |
| Pcgf6 |
A |
C |
19: 47,036,421 (GRCm39) |
F216C |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,225,308 (GRCm39) |
R1732K |
probably benign |
Het |
| Pramel17 |
T |
C |
4: 101,694,055 (GRCm39) |
Y276C |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,089,231 (GRCm39) |
K183R |
probably damaging |
Het |
| Rbbp4 |
A |
T |
4: 129,211,543 (GRCm39) |
H370Q |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,109,729 (GRCm39) |
V3127A |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,060,355 (GRCm39) |
V1019E |
probably damaging |
Het |
| Slc16a7 |
C |
A |
10: 125,066,667 (GRCm39) |
G324V |
probably damaging |
Het |
| Slc22a3 |
A |
G |
17: 12,678,697 (GRCm39) |
L209P |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,649,513 (GRCm39) |
T1695S |
probably damaging |
Het |
| Tulp3 |
G |
A |
6: 128,311,448 (GRCm39) |
T74M |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,938,144 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
A |
T |
4: 25,281,686 (GRCm39) |
S23T |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,647,587 (GRCm39) |
E1509G |
possibly damaging |
Het |
| Wnk2 |
A |
T |
13: 49,210,416 (GRCm39) |
I1801N |
probably damaging |
Het |
|
| Other mutations in Serpina9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01020:Serpina9
|
APN |
12 |
103,974,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02692:Serpina9
|
APN |
12 |
103,974,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Serpina9
|
APN |
12 |
103,974,869 (GRCm39) |
nonsense |
probably null |
|
|
IGL03134:Serpina9
|
UTSW |
12 |
103,967,696 (GRCm39) |
missense |
probably null |
0.18 |
|
R0119:Serpina9
|
UTSW |
12 |
103,967,729 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0299:Serpina9
|
UTSW |
12 |
103,967,729 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0499:Serpina9
|
UTSW |
12 |
103,967,729 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1477:Serpina9
|
UTSW |
12 |
103,963,362 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1912:Serpina9
|
UTSW |
12 |
103,967,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2142:Serpina9
|
UTSW |
12 |
103,974,568 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2221:Serpina9
|
UTSW |
12 |
103,964,523 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2413:Serpina9
|
UTSW |
12 |
103,967,485 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3939:Serpina9
|
UTSW |
12 |
103,975,151 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R4515:Serpina9
|
UTSW |
12 |
103,967,553 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5242:Serpina9
|
UTSW |
12 |
103,974,644 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5589:Serpina9
|
UTSW |
12 |
103,967,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5900:Serpina9
|
UTSW |
12 |
103,975,130 (GRCm39) |
nonsense |
probably null |
|
|
R6171:Serpina9
|
UTSW |
12 |
103,974,678 (GRCm39) |
nonsense |
probably null |
|
|
R6195:Serpina9
|
UTSW |
12 |
103,967,666 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6566:Serpina9
|
UTSW |
12 |
103,963,296 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6995:Serpina9
|
UTSW |
12 |
103,967,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7762:Serpina9
|
UTSW |
12 |
103,967,575 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7808:Serpina9
|
UTSW |
12 |
103,967,484 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7860:Serpina9
|
UTSW |
12 |
103,967,680 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7935:Serpina9
|
UTSW |
12 |
103,964,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Serpina9
|
UTSW |
12 |
103,967,737 (GRCm39) |
missense |
|
|
|
Z1176:Serpina9
|
UTSW |
12 |
103,967,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation