Incidental Mutation 'R2315:Serpina3n'
| ID |
245465 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104372988-104380588 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104378627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 316
(I316F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021506]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021506
AA Change: I316F
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000021506
Gene: ENSMUSG00000021091
AA Change: I316F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
7.64e-194 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cnot1 |
C |
T |
8: 96,475,690 (GRCm39) |
G995R |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,450,735 (GRCm39) |
T547A |
probably benign |
Het |
| Ddx20 |
A |
G |
3: 105,586,015 (GRCm39) |
Y777H |
probably damaging |
Het |
| Fbxo32 |
T |
C |
15: 58,071,431 (GRCm39) |
N50S |
probably benign |
Het |
| Fsip2 |
G |
C |
2: 82,805,437 (GRCm39) |
M585I |
probably benign |
Het |
| Gm13941 |
A |
G |
2: 110,935,162 (GRCm39) |
S23P |
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hoxa2 |
A |
G |
6: 52,139,871 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,124,676 (GRCm39) |
I562V |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,908,999 (GRCm39) |
L179M |
probably damaging |
Het |
| Myl3 |
T |
C |
9: 110,595,809 (GRCm39) |
L102P |
probably damaging |
Het |
| Pag1 |
C |
T |
3: 9,764,824 (GRCm39) |
V110I |
probably damaging |
Het |
| Scube2 |
A |
G |
7: 109,403,908 (GRCm39) |
F861L |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,612,463 (GRCm39) |
S493P |
probably benign |
Het |
| Sult1c2 |
T |
A |
17: 54,145,521 (GRCm39) |
T52S |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Vmn2r17 |
A |
C |
5: 109,575,897 (GRCm39) |
D256A |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,188,335 (GRCm39) |
F47S |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,680,067 (GRCm39) |
D532G |
possibly damaging |
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 |
|
IGL01930:Serpina3n
|
APN |
12 |
104,375,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTAGGGAGAGCAAAGTCATGTTG -3'
(R):5'- AGGTCTTCTCACACGTGTGC -3'
Sequencing Primer
(F):5'- AGCAAAGTCATGTTGTGTAGGC -3'
(R):5'- GTGTGCCAATCCCACATGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation