Incidental Mutation 'R3013:Serpina3j'
| ID |
257575 |
| 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 |
040534-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R3013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
104280812-104286984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104285966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 374
(T374A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109957]
|
| AlphaFold |
D3Z451 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109957
AA Change: T374A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105583
Gene: ENSMUSG00000079013
AA Change: T374A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
6.65e-153 |
SMART |
|
| Meta Mutation Damage Score |
0.4363 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
C |
T |
8: 124,211,416 (GRCm39) |
R126W |
probably benign |
Het |
| Alg10b |
T |
A |
15: 90,111,759 (GRCm39) |
I201N |
possibly damaging |
Het |
| Arid2 |
T |
C |
15: 96,259,817 (GRCm39) |
S326P |
probably damaging |
Het |
| Ash2l |
T |
C |
8: 26,329,792 (GRCm39) |
D122G |
probably damaging |
Het |
| Bpifb5 |
T |
C |
2: 154,070,775 (GRCm39) |
S189P |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,752,025 (GRCm39) |
V852A |
probably benign |
Het |
| Ces1e |
G |
A |
8: 93,929,915 (GRCm39) |
S455L |
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,139 (GRCm39) |
K292R |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,227,847 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,847,067 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,324,358 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
T |
A |
5: 135,463,893 (GRCm39) |
E37V |
possibly damaging |
Het |
| Hspbp1 |
G |
T |
7: 4,666,483 (GRCm39) |
T299K |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,074,497 (GRCm39) |
D470G |
probably benign |
Het |
| Mkx |
A |
T |
18: 6,936,929 (GRCm39) |
I334N |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,951,744 (GRCm39) |
L4003Q |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,614,509 (GRCm39) |
C314F |
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,089,025 (GRCm39) |
D114E |
probably damaging |
Het |
| Prr5l |
A |
G |
2: 101,565,050 (GRCm39) |
F162S |
probably damaging |
Het |
| Rbfox2 |
T |
C |
15: 77,017,120 (GRCm39) |
T17A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,470,626 (GRCm39) |
F4610L |
probably damaging |
Het |
| Scp2 |
T |
A |
4: 107,928,554 (GRCm39) |
R379W |
probably damaging |
Het |
| Smad4 |
T |
C |
18: 73,781,975 (GRCm39) |
Y429C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,565,025 (GRCm39) |
T28401A |
probably damaging |
Het |
| Wdr49 |
A |
G |
3: 75,358,154 (GRCm39) |
I260T |
probably damaging |
Het |
| Xirp1 |
T |
C |
9: 119,848,851 (GRCm39) |
T11A |
probably benign |
Het |
| Zfp235 |
A |
G |
7: 23,840,157 (GRCm39) |
D262G |
probably damaging |
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 |
|
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'- TCCAGGGTTAGAACTCATGGAAG -3'
(R):5'- CATAGCCAGTCAGAGGATGG -3'
Sequencing Primer
(F):5'- TGGAAGGAACAAAAATATTCCCCAG -3'
(R):5'- AGACTCAGTCTTTGAAACTGGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation