Incidental Mutation 'IGL02692:Serpina9'
ID |
303798 |
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 # |
IGL02692
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
103962877-103979911 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 103974665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 163
(F163V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058535
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058464]
[ENSMUST00000164023]
|
AlphaFold |
Q9D7D2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058464
AA Change: F163V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000058535 Gene: ENSMUSG00000058260 AA Change: F163V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
SERPIN
|
55 |
415 |
1.27e-158 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164023
AA Change: F163V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000130064 Gene: ENSMUSG00000058260 AA Change: F163V
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
C |
10: 100,439,410 (GRCm39) |
S72R |
probably benign |
Het |
4930544G11Rik |
T |
C |
6: 65,929,792 (GRCm39) |
V9A |
probably damaging |
Het |
Actl11 |
A |
G |
9: 107,806,507 (GRCm39) |
N277D |
probably benign |
Het |
Adam2 |
T |
A |
14: 66,311,536 (GRCm39) |
I57F |
probably damaging |
Het |
Adgrf1 |
T |
C |
17: 43,614,669 (GRCm39) |
F251S |
probably damaging |
Het |
Anapc15-ps |
T |
C |
10: 95,509,089 (GRCm39) |
I64V |
probably benign |
Het |
Anapc4 |
T |
C |
5: 53,021,871 (GRCm39) |
V651A |
probably damaging |
Het |
Atl2 |
T |
C |
17: 80,172,482 (GRCm39) |
N163D |
probably benign |
Het |
B4galnt3 |
G |
A |
6: 120,187,272 (GRCm39) |
R708C |
probably damaging |
Het |
Capza2 |
C |
T |
6: 17,654,115 (GRCm39) |
Q56* |
probably null |
Het |
Cspg4 |
T |
A |
9: 56,794,738 (GRCm39) |
H824Q |
probably benign |
Het |
Dock7 |
G |
A |
4: 98,875,623 (GRCm39) |
P1106S |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,005,235 (GRCm39) |
Y1878C |
probably damaging |
Het |
Grk2 |
A |
T |
19: 4,340,716 (GRCm39) |
|
probably benign |
Het |
Lmbrd2 |
G |
A |
15: 9,149,155 (GRCm39) |
V13I |
possibly damaging |
Het |
Loxhd1 |
G |
T |
18: 77,444,609 (GRCm39) |
C336F |
probably damaging |
Het |
Morc1 |
T |
A |
16: 48,330,596 (GRCm39) |
F355L |
probably null |
Het |
Mov10 |
C |
A |
3: 104,708,119 (GRCm39) |
E503* |
probably null |
Het |
Nt5dc3 |
T |
A |
10: 86,640,642 (GRCm39) |
|
probably null |
Het |
Or2w3b |
A |
G |
11: 58,623,343 (GRCm39) |
V216A |
probably benign |
Het |
Phf20 |
T |
A |
2: 156,140,498 (GRCm39) |
M724K |
probably damaging |
Het |
Pla2g2e |
G |
T |
4: 138,609,870 (GRCm39) |
|
probably benign |
Het |
Polq |
T |
A |
16: 36,880,989 (GRCm39) |
V772E |
probably damaging |
Het |
Rhoh |
A |
G |
5: 66,050,143 (GRCm39) |
R138G |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Septin7 |
A |
G |
9: 25,207,786 (GRCm39) |
|
probably benign |
Het |
Slc2a13 |
A |
T |
15: 91,205,861 (GRCm39) |
F442Y |
probably benign |
Het |
Slc34a1 |
G |
A |
13: 55,551,049 (GRCm39) |
|
probably benign |
Het |
Slc6a11 |
T |
C |
6: 114,139,100 (GRCm39) |
F236S |
probably damaging |
Het |
Usp1 |
A |
G |
4: 98,817,197 (GRCm39) |
K130E |
probably benign |
Het |
Zfp386 |
A |
G |
12: 116,022,855 (GRCm39) |
E156G |
probably damaging |
Het |
Zfp957 |
C |
T |
14: 79,450,825 (GRCm39) |
V325I |
unknown |
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 |
IGL02228:Serpina9
|
APN |
12 |
103,974,859 (GRCm39) |
missense |
probably benign |
0.02 |
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 |