Incidental Mutation 'R2405:Serpina3a'
| ID |
247973 |
| 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 |
040371-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R2405 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104078983-104088155 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104087577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 357
(M357L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021496]
[ENSMUST00000109965]
[ENSMUST00000185595]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021496
AA Change: M357L
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021496
Gene: ENSMUSG00000041536
AA Change: M357L
| 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: M167L
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105591
Gene: ENSMUSG00000041536
AA Change: M167L
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
4 |
229 |
5.39e-16 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185595
AA Change: M357L
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140024
Gene: ENSMUSG00000041536
AA Change: M357L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SERPIN
|
58 |
419 |
1.73e-151 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Abl1 |
T |
C |
2: 31,690,986 (GRCm39) |
L835P |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,607,774 (GRCm39) |
V1426D |
probably damaging |
Het |
| Ccny |
A |
G |
18: 9,353,480 (GRCm39) |
Y98H |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,660,626 (GRCm39) |
T509M |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,770,077 (GRCm39) |
Y255* |
probably null |
Het |
| Cyp2d11 |
C |
T |
15: 82,273,467 (GRCm39) |
S468N |
possibly damaging |
Het |
| Dnah7b |
C |
A |
1: 46,402,114 (GRCm39) |
T3983N |
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,882,349 (GRCm39) |
M427K |
probably damaging |
Het |
| Fxr1 |
T |
A |
3: 34,116,003 (GRCm39) |
S438T |
probably damaging |
Het |
| Gabrr1 |
A |
T |
4: 33,157,110 (GRCm39) |
D209V |
probably damaging |
Het |
| Gbx2 |
G |
T |
1: 89,858,630 (GRCm39) |
|
probably benign |
Het |
| Gng14 |
A |
G |
8: 85,794,270 (GRCm39) |
I56T |
possibly damaging |
Het |
| Gulo |
A |
G |
14: 66,228,477 (GRCm39) |
|
probably null |
Het |
| Hhla1 |
A |
T |
15: 65,808,160 (GRCm39) |
L295* |
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,736,092 (GRCm39) |
I126L |
probably damaging |
Het |
| Hpse |
A |
G |
5: 100,856,637 (GRCm39) |
S121P |
possibly damaging |
Het |
| Inpp5d |
A |
G |
1: 87,627,451 (GRCm39) |
H321R |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,536,754 (GRCm39) |
M658K |
probably damaging |
Het |
| Kidins220 |
A |
T |
12: 25,061,508 (GRCm39) |
E875V |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,511,810 (GRCm39) |
M53V |
unknown |
Het |
| Nlrp4b |
A |
G |
7: 10,448,655 (GRCm39) |
E286G |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Pde3a |
A |
T |
6: 141,426,968 (GRCm39) |
I710F |
probably damaging |
Het |
| Phb1 |
T |
C |
11: 95,566,094 (GRCm39) |
I126T |
probably benign |
Het |
| Ppp4r1 |
C |
T |
17: 66,118,341 (GRCm39) |
T164I |
possibly damaging |
Het |
| Psmc1 |
G |
A |
12: 100,086,362 (GRCm39) |
R333Q |
probably benign |
Het |
| Pygb |
A |
G |
2: 150,662,695 (GRCm39) |
Y554C |
probably benign |
Het |
| Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,444,063 (GRCm39) |
M361K |
probably benign |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Slc15a2 |
G |
A |
16: 36,572,199 (GRCm39) |
Q691* |
probably null |
Het |
| Slc25a25 |
C |
T |
2: 32,307,731 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
A |
G |
5: 53,215,523 (GRCm39) |
N9S |
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,640,599 (GRCm39) |
T665A |
probably damaging |
Het |
| Spef2 |
C |
A |
15: 9,626,120 (GRCm39) |
E1149* |
probably null |
Het |
| Tmem179 |
A |
G |
12: 112,468,347 (GRCm39) |
W45R |
probably damaging |
Het |
| Tmpo |
C |
A |
10: 90,999,216 (GRCm39) |
K190N |
probably damaging |
Het |
| Triml1 |
T |
C |
8: 43,583,320 (GRCm39) |
Y427C |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,770,558 (GRCm39) |
L720P |
probably damaging |
Het |
| Vmn1r60 |
A |
G |
7: 5,547,912 (GRCm39) |
Y63H |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,102 (GRCm39) |
C560S |
probably damaging |
Het |
| Vps35l |
G |
C |
7: 118,391,818 (GRCm39) |
A410P |
probably damaging |
Het |
| Zdhhc13 |
A |
G |
7: 48,472,478 (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 |
|
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 |
|
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'- TCAGACACTATGCAGAGCAAGG -3'
(R):5'- CCCACCACTTGAGAAGATCTAG -3'
Sequencing Primer
(F):5'- CTATGCAGAGCAAGGGCCTG -3'
(R):5'- GTTGATAACCTTACCCATAACGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation