Incidental Mutation 'R6683:Serpina3a'
| ID |
527589 |
| 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 |
044802-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R6683 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104078983-104088155 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104085896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 117
(M117T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105591
(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: M307T
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: M307T
| 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
AA Change: M117T
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105591
Gene: ENSMUSG00000041536
AA Change: M117T
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
4 |
229 |
5.39e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185595
AA Change: M307T
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: M307T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SERPIN
|
58 |
419 |
1.73e-151 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
T |
C |
1: 74,321,604 (GRCm39) |
E169G |
possibly damaging |
Het |
| Acat2 |
G |
A |
17: 13,162,814 (GRCm39) |
R377C |
probably benign |
Het |
| Adgrg6 |
A |
G |
10: 14,331,911 (GRCm39) |
V398A |
probably damaging |
Het |
| BC025920 |
A |
G |
10: 81,445,135 (GRCm39) |
H86R |
probably damaging |
Het |
| BC028528 |
T |
C |
3: 95,795,539 (GRCm39) |
T88A |
probably damaging |
Het |
| Creb3l4 |
T |
A |
3: 90,145,112 (GRCm39) |
T347S |
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,397,048 (GRCm39) |
V180A |
probably damaging |
Het |
| Fam187a |
T |
C |
11: 102,777,015 (GRCm39) |
V273A |
probably damaging |
Het |
| Hdgfl3 |
G |
A |
7: 81,550,101 (GRCm39) |
R78W |
possibly damaging |
Het |
| Krt8 |
T |
C |
15: 101,906,439 (GRCm39) |
T357A |
probably benign |
Het |
| Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
| Ly6d |
A |
T |
15: 74,634,299 (GRCm39) |
V97D |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,711,062 (GRCm39) |
I115T |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,305,214 (GRCm39) |
V173I |
probably benign |
Het |
| Nck2 |
T |
C |
1: 43,608,338 (GRCm39) |
S327P |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,647,717 (GRCm39) |
R20G |
probably damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,347,009 (GRCm39) |
T83I |
probably benign |
Het |
| Nploc4 |
A |
G |
11: 120,274,156 (GRCm39) |
S546P |
probably damaging |
Het |
| Or1e1d-ps1 |
A |
G |
11: 73,818,939 (GRCm39) |
Y36C |
probably damaging |
Het |
| Or51g2 |
C |
T |
7: 102,622,920 (GRCm39) |
R93Q |
probably benign |
Het |
| Or52e8 |
C |
T |
7: 104,625,175 (GRCm39) |
V10I |
probably benign |
Het |
| Or5b21 |
A |
G |
19: 12,840,014 (GRCm39) |
S292G |
probably damaging |
Het |
| Panx1 |
T |
C |
9: 14,919,307 (GRCm39) |
E184G |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,655,047 (GRCm39) |
Y1808C |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 134,628,513 (GRCm39) |
S21C |
probably benign |
Het |
| Ppil6 |
A |
G |
10: 41,374,427 (GRCm39) |
N103D |
probably benign |
Het |
| Pth1r |
C |
T |
9: 110,556,319 (GRCm39) |
|
probably null |
Het |
| Rapgef4 |
A |
T |
2: 71,885,123 (GRCm39) |
|
probably benign |
Het |
| Rlf |
A |
G |
4: 121,005,123 (GRCm39) |
S1286P |
probably damaging |
Het |
| Rnf217 |
A |
G |
10: 31,410,822 (GRCm39) |
V291A |
possibly damaging |
Het |
| St8sia4 |
T |
C |
1: 95,581,424 (GRCm39) |
D106G |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,098,207 (GRCm39) |
I485T |
probably damaging |
Het |
| Trdc |
T |
C |
14: 54,381,692 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,541,004 (GRCm39) |
L33994P |
probably damaging |
Het |
| Vmn2r42 |
T |
A |
7: 8,187,224 (GRCm39) |
K799N |
probably damaging |
Het |
| Zfp42 |
G |
A |
8: 43,749,093 (GRCm39) |
T136M |
possibly damaging |
Het |
| Znhit1 |
A |
T |
5: 137,011,487 (GRCm39) |
S109T |
probably benign |
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 |
|
R5064:Serpina3a
|
UTSW |
12 |
104,082,448 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- GTTTGCCTGTCCACTGTAAGC -3'
(R):5'- TACATTCAGGACCCAAAATGACTG -3'
Sequencing Primer
(F):5'- GTCCACTGTAAGCACTCTCAG -3'
(R):5'- AATGACTGACCCTGTGTTTATTGTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation