Incidental Mutation 'R0036:Serpina3j'
| ID |
201478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina3j
|
| Ensembl Gene |
ENSMUSG00000079013 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3J |
| Synonyms |
alpha-1 antiproteinase, Gm4931 |
| MMRRC Submission |
038330-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R0036 (G1)
|
| Quality Score |
52 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
104280812-104286984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104283606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 235
(T235A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109957]
|
| AlphaFold |
D3Z451 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109957
AA Change: T235A
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105583
Gene: ENSMUSG00000079013
AA Change: T235A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
6.65e-153 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
97% (33/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ctsq |
C |
T |
13: 61,185,485 (GRCm39) |
|
probably null |
Het |
| Egln3 |
A |
T |
12: 54,232,378 (GRCm39) |
D142E |
possibly damaging |
Het |
| Fam120a |
G |
A |
13: 49,042,740 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,270,160 (GRCm39) |
T2373A |
probably damaging |
Het |
| Pcyox1l |
G |
T |
18: 61,830,492 (GRCm39) |
T460K |
probably benign |
Het |
| Phrf1 |
T |
C |
7: 140,841,693 (GRCm39) |
M1435T |
probably damaging |
Het |
| Rnf157 |
A |
G |
11: 116,287,128 (GRCm39) |
Y32H |
probably damaging |
Het |
| Rnf224 |
C |
T |
2: 25,126,143 (GRCm39) |
R70Q |
probably damaging |
Het |
| Rusc2 |
C |
A |
4: 43,424,009 (GRCm39) |
D1054E |
probably damaging |
Het |
| S100a16 |
T |
A |
3: 90,449,763 (GRCm39) |
M82K |
probably benign |
Het |
| Sgo2a |
T |
C |
1: 58,054,787 (GRCm39) |
S324P |
probably benign |
Het |
| Slf1 |
G |
T |
13: 77,249,070 (GRCm39) |
Q373K |
probably benign |
Het |
| Son |
T |
A |
16: 91,457,054 (GRCm39) |
|
probably benign |
Het |
| Tril |
C |
T |
6: 53,795,618 (GRCm39) |
A535T |
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,490,049 (GRCm39) |
D141N |
probably benign |
Het |
|
| Other mutations in Serpina3j |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01783:Serpina3j
|
APN |
12 |
104,284,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01923:Serpina3j
|
APN |
12 |
104,281,473 (GRCm39) |
splice site |
probably benign |
|
|
IGL01965:Serpina3j
|
APN |
12 |
104,281,063 (GRCm39) |
missense |
probably benign |
|
|
IGL03135:Serpina3j
|
APN |
12 |
104,281,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03242:Serpina3j
|
APN |
12 |
104,285,960 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0638:Serpina3j
|
UTSW |
12 |
104,281,078 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0648:Serpina3j
|
UTSW |
12 |
104,280,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1874:Serpina3j
|
UTSW |
12 |
104,285,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2212:Serpina3j
|
UTSW |
12 |
104,280,985 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3013:Serpina3j
|
UTSW |
12 |
104,285,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3808:Serpina3j
|
UTSW |
12 |
104,286,086 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3928:Serpina3j
|
UTSW |
12 |
104,285,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4234:Serpina3j
|
UTSW |
12 |
104,281,445 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4966:Serpina3j
|
UTSW |
12 |
104,286,043 (GRCm39) |
nonsense |
probably null |
|
|
R5373:Serpina3j
|
UTSW |
12 |
104,280,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5374:Serpina3j
|
UTSW |
12 |
104,280,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5771:Serpina3j
|
UTSW |
12 |
104,281,185 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5993:Serpina3j
|
UTSW |
12 |
104,280,946 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6151:Serpina3j
|
UTSW |
12 |
104,283,649 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6246:Serpina3j
|
UTSW |
12 |
104,283,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6982:Serpina3j
|
UTSW |
12 |
104,283,556 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7111:Serpina3j
|
UTSW |
12 |
104,283,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:Serpina3j
|
UTSW |
12 |
104,284,754 (GRCm39) |
nonsense |
probably null |
|
|
R8411:Serpina3j
|
UTSW |
12 |
104,281,043 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8915:Serpina3j
|
UTSW |
12 |
104,281,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9489:Serpina3j
|
UTSW |
12 |
104,286,093 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9605:Serpina3j
|
UTSW |
12 |
104,286,093 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9750:Serpina3j
|
UTSW |
12 |
104,280,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGGATATGCCACCACAGGGAC -3'
(R):5'- CTGGGCCTCAAAGATTTCCTCCATC -3'
Sequencing Primer
(F):5'- CCACAGGGACATTCTGAGTGAC -3'
(R):5'- CCCCTCAGAGTTGCTGGTTG -3'
|
| Posted On |
2014-06-13 |
Incidental Mutation