Incidental Mutation 'R4234:Serpina3j'
| ID |
321022 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4234 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104280812-104286984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 104281445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 206
(T206K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109957]
|
| AlphaFold |
D3Z451 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109957
AA Change: T206K
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105583
Gene: ENSMUSG00000079013
AA Change: T206K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
6.65e-153 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,978,150 (GRCm39) |
K90* |
probably null |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Ap3s1 |
A |
T |
18: 46,912,267 (GRCm39) |
T96S |
probably benign |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Aspg |
T |
A |
12: 112,089,750 (GRCm39) |
Y429* |
probably null |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| BC034090 |
C |
T |
1: 155,117,326 (GRCm39) |
G264D |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
| Cerk |
T |
C |
15: 86,026,989 (GRCm39) |
K174E |
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,354,476 (GRCm39) |
|
probably null |
Het |
| Cyp2c23 |
G |
T |
19: 44,017,604 (GRCm39) |
T8K |
unknown |
Het |
| Ddx1 |
C |
T |
12: 13,273,858 (GRCm39) |
V590I |
possibly damaging |
Het |
| Dok4 |
T |
C |
8: 95,592,292 (GRCm39) |
E232G |
probably damaging |
Het |
| Dpf1 |
T |
C |
7: 29,015,057 (GRCm39) |
S304P |
probably damaging |
Het |
| Dpyd |
T |
A |
3: 119,225,233 (GRCm39) |
I1002N |
probably damaging |
Het |
| Fam107b |
T |
C |
2: 3,771,777 (GRCm39) |
S3P |
possibly damaging |
Het |
| Gm1527 |
G |
A |
3: 28,968,515 (GRCm39) |
G189D |
probably damaging |
Het |
| Hspa12b |
T |
C |
2: 130,980,932 (GRCm39) |
V162A |
probably benign |
Het |
| Lix1l |
T |
A |
3: 96,530,973 (GRCm39) |
|
probably null |
Het |
| Mdc1 |
T |
C |
17: 36,159,716 (GRCm39) |
C658R |
probably benign |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Myh15 |
G |
T |
16: 48,983,405 (GRCm39) |
V1507L |
probably benign |
Het |
| Nfe2l1 |
T |
C |
11: 96,710,735 (GRCm39) |
D210G |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,360,315 (GRCm39) |
I1539F |
probably damaging |
Het |
| Pcdhac1 |
A |
C |
18: 37,224,011 (GRCm39) |
S275R |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rbbp5 |
A |
G |
1: 132,412,496 (GRCm39) |
T20A |
probably benign |
Het |
| Rere |
T |
C |
4: 150,701,862 (GRCm39) |
V1414A |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr3 |
G |
T |
2: 112,740,752 (GRCm39) |
N538K |
probably damaging |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc27a5 |
C |
A |
7: 12,722,370 (GRCm39) |
C416F |
probably benign |
Het |
| Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
| Tex30 |
A |
T |
1: 44,130,672 (GRCm39) |
I32K |
possibly damaging |
Het |
| Trpc2 |
T |
C |
7: 101,737,342 (GRCm39) |
I752T |
possibly damaging |
Het |
| Wnk2 |
A |
G |
13: 49,214,604 (GRCm39) |
V1314A |
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 |
|
R0036:Serpina3j
|
UTSW |
12 |
104,283,606 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
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'- AAAGCACCTGCAGATCCTGG -3'
(R):5'- TTTCTGTTGGGCAAGTACCAG -3'
Sequencing Primer
(F):5'- TGCAGATCCTGGCAGAGTTC -3'
(R):5'- CTGTTGGGCAAGTACCAGAATTAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation