Incidental Mutation 'R5064:Serpina3a'
| ID |
388269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina3a
|
| Ensembl Gene |
ENSMUSG00000041536 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3A |
| Synonyms |
4933406L18Rik, alpha-1 antiproteinase,, antitrypsin |
| MMRRC Submission |
042654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5064 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
104078983-104088155 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 104082448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 74
(V74I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021496]
[ENSMUST00000109965]
[ENSMUST00000185595]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021496
AA Change: V74I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: V74I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SERPIN
|
58 |
419 |
1.73e-151 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109965
|
| SMART Domains |
Protein: ENSMUSP00000105591
Gene: ENSMUSG00000041536
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
4 |
229 |
5.39e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185595
AA Change: V74I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: V74I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SERPIN
|
58 |
419 |
1.73e-151 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.1%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,340,119 (GRCm39) |
V1082A |
probably damaging |
Het |
| Adamts7 |
T |
A |
9: 90,077,883 (GRCm39) |
Y1496N |
probably damaging |
Het |
| Ascl2 |
T |
C |
7: 142,521,996 (GRCm39) |
N151D |
possibly damaging |
Het |
| Asxl3 |
G |
T |
18: 22,649,076 (GRCm39) |
S355I |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,448,278 (GRCm39) |
Q127R |
probably damaging |
Het |
| Efhc1 |
T |
A |
1: 21,045,187 (GRCm39) |
I401N |
possibly damaging |
Het |
| Eml6 |
C |
T |
11: 29,699,300 (GRCm39) |
V1818I |
probably benign |
Het |
| Grin1 |
G |
T |
2: 25,193,843 (GRCm39) |
|
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,140,100 (GRCm39) |
R244H |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mllt6 |
C |
A |
11: 97,564,775 (GRCm39) |
A527E |
probably damaging |
Het |
| Msh5 |
G |
T |
17: 35,262,759 (GRCm39) |
|
probably benign |
Het |
| Mypn |
T |
A |
10: 62,959,150 (GRCm39) |
D1057V |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,469,167 (GRCm39) |
|
probably null |
Het |
| Nat8l |
T |
C |
5: 34,154,213 (GRCm39) |
V9A |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,565,410 (GRCm39) |
I247V |
probably benign |
Het |
| Nr1h2 |
G |
A |
7: 44,201,073 (GRCm39) |
A219V |
possibly damaging |
Het |
| Nup155 |
C |
A |
15: 8,165,354 (GRCm39) |
H663Q |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,292,566 (GRCm39) |
Y1339C |
probably damaging |
Het |
| Plppr1 |
A |
T |
4: 49,319,974 (GRCm39) |
H200L |
probably benign |
Het |
| Por |
T |
C |
5: 135,762,649 (GRCm39) |
V421A |
probably benign |
Het |
| Pxylp1 |
T |
G |
9: 96,736,853 (GRCm39) |
|
probably benign |
Het |
| Sfxn1 |
T |
C |
13: 54,239,588 (GRCm39) |
I37T |
probably benign |
Het |
| Thsd7a |
G |
T |
6: 12,330,951 (GRCm39) |
T1397N |
possibly damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,785,946 (GRCm39) |
|
probably null |
Het |
| Vmn1r55 |
A |
T |
7: 5,149,928 (GRCm39) |
M165K |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,486,534 (GRCm39) |
M787K |
probably damaging |
Het |
| Vta1 |
G |
T |
10: 14,581,222 (GRCm39) |
|
probably benign |
Het |
| Wdr87-ps |
A |
G |
7: 29,235,080 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp236 |
A |
G |
18: 82,709,701 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Serpina3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01133:Serpina3a
|
APN |
12 |
104,087,758 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02003:Serpina3a
|
APN |
12 |
104,082,259 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02379:Serpina3a
|
APN |
12 |
104,084,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02547:Serpina3a
|
APN |
12 |
104,082,802 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02593:Serpina3a
|
APN |
12 |
104,084,691 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02730:Serpina3a
|
APN |
12 |
104,085,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02953:Serpina3a
|
APN |
12 |
104,082,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03197:Serpina3a
|
APN |
12 |
104,082,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Serpina3a
|
UTSW |
12 |
104,082,787 (GRCm39) |
nonsense |
probably null |
|
|
R1635:Serpina3a
|
UTSW |
12 |
104,082,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1688:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1804:Serpina3a
|
UTSW |
12 |
104,084,675 (GRCm39) |
splice site |
probably benign |
|
|
R1867:Serpina3a
|
UTSW |
12 |
104,084,886 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1888:Serpina3a
|
UTSW |
12 |
104,082,362 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1888:Serpina3a
|
UTSW |
12 |
104,082,362 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2110:Serpina3a
|
UTSW |
12 |
104,082,481 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2111:Serpina3a
|
UTSW |
12 |
104,082,481 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2305:Serpina3a
|
UTSW |
12 |
104,082,787 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2326:Serpina3a
|
UTSW |
12 |
104,082,758 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2405:Serpina3a
|
UTSW |
12 |
104,087,577 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4008:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4010:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4011:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4079:Serpina3a
|
UTSW |
12 |
104,085,934 (GRCm39) |
nonsense |
probably null |
|
|
R4091:Serpina3a
|
UTSW |
12 |
104,082,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4092:Serpina3a
|
UTSW |
12 |
104,082,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4210:Serpina3a
|
UTSW |
12 |
104,084,902 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6242:Serpina3a
|
UTSW |
12 |
104,082,260 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6337:Serpina3a
|
UTSW |
12 |
104,079,137 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6395:Serpina3a
|
UTSW |
12 |
104,082,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6683:Serpina3a
|
UTSW |
12 |
104,085,896 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6994:Serpina3a
|
UTSW |
12 |
104,079,089 (GRCm39) |
splice site |
probably null |
|
|
R7117:Serpina3a
|
UTSW |
12 |
104,082,436 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8104:Serpina3a
|
UTSW |
12 |
104,079,110 (GRCm39) |
start gained |
probably benign |
|
|
R8131:Serpina3a
|
UTSW |
12 |
104,082,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9042:Serpina3a
|
UTSW |
12 |
104,082,362 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9089:Serpina3a
|
UTSW |
12 |
104,085,956 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9141:Serpina3a
|
UTSW |
12 |
104,087,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9426:Serpina3a
|
UTSW |
12 |
104,087,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9564:Serpina3a
|
UTSW |
12 |
104,084,886 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGGCCTTCATTGCAGCTC -3'
(R):5'- ACCTGGTTCTCTGGCTGAATG -3'
Sequencing Primer
(F):5'- GGGAATCTGTCCTGCTATCAC -3'
(R):5'- AATGAGCATTTGTAGGAGGTGCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation