Incidental Mutation 'R2413:Serpina9'
| ID |
250071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina9
|
| Ensembl Gene |
ENSMUSG00000058260 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 |
| Synonyms |
Centerin, 2310014L03Rik |
| MMRRC Submission |
040377-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R2413 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
103962877-103979911 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 103967485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058464]
|
| AlphaFold |
Q9D7D2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000058464
|
| SMART Domains |
Protein: ENSMUSP00000058535
Gene: ENSMUSG00000058260
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SERPIN
|
55 |
415 |
1.27e-158 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176106
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
G |
T |
8: 89,036,446 (GRCm39) |
A168S |
probably benign |
Het |
| Aspm |
A |
C |
1: 139,405,495 (GRCm39) |
I1461L |
probably damaging |
Het |
| Bcas3 |
C |
T |
11: 85,422,681 (GRCm39) |
L517F |
probably damaging |
Het |
| Brpf3 |
T |
C |
17: 29,024,924 (GRCm39) |
|
probably benign |
Het |
| Cfap74 |
A |
C |
4: 155,503,081 (GRCm39) |
R24S |
possibly damaging |
Het |
| Clec1a |
T |
A |
6: 129,412,218 (GRCm39) |
S51C |
probably damaging |
Het |
| Cyp2c40 |
G |
T |
19: 39,792,331 (GRCm39) |
C204* |
probably null |
Het |
| Dgki |
C |
A |
6: 36,824,408 (GRCm39) |
R1040L |
possibly damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,365 (GRCm39) |
Y149* |
probably null |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,278,969 (GRCm39) |
T565S |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,064,290 (GRCm39) |
|
probably null |
Het |
| Ipcef1 |
G |
A |
10: 6,885,225 (GRCm39) |
P92S |
probably damaging |
Het |
| Kctd12 |
T |
A |
14: 103,219,603 (GRCm39) |
I92F |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,902,212 (GRCm39) |
T285I |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,728,657 (GRCm39) |
N32K |
probably damaging |
Het |
| Mier3 |
T |
C |
13: 111,851,662 (GRCm39) |
|
probably benign |
Het |
| Myd88 |
T |
C |
9: 119,166,484 (GRCm39) |
T277A |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,467,924 (GRCm39) |
Y1331N |
probably benign |
Het |
| Neb |
C |
A |
2: 52,100,644 (GRCm39) |
W4422L |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,523,243 (GRCm39) |
S1019P |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,131,792 (GRCm39) |
E354G |
probably damaging |
Het |
| Ntrk2 |
G |
T |
13: 59,022,226 (GRCm39) |
R427L |
possibly damaging |
Het |
| Or51g1 |
A |
G |
7: 102,634,009 (GRCm39) |
S121P |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 76,051,437 (GRCm39) |
D262V |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,376,572 (GRCm39) |
E129G |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,896,643 (GRCm39) |
L444P |
probably damaging |
Het |
| Synj2 |
C |
A |
17: 6,078,849 (GRCm39) |
P217T |
probably damaging |
Het |
| Tex52 |
T |
C |
6: 128,356,871 (GRCm39) |
L188P |
probably damaging |
Het |
| Tmem63a |
A |
G |
1: 180,788,640 (GRCm39) |
M326V |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,937,252 (GRCm39) |
T2900A |
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 |
|
IGL02228:Serpina9
|
APN |
12 |
103,974,859 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTACCTTCGATGACTCAGCA -3'
(R):5'- ACCGAGTCGTTTGCTTTTGGAG -3'
Sequencing Primer
(F):5'- GAAAAGTAGCCAGTGCCTGTTTCC -3'
(R):5'- CTTTTGGAGTGGACAAGGAGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation