Incidental Mutation 'R6673:Serpina3b'
| ID |
527197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina3b
|
| Ensembl Gene |
ENSMUSG00000066364 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3B |
| Synonyms |
alpha-1 antiproteinase, 6A1, antitrypsin, A030003A19Rik |
| MMRRC Submission |
044793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6673 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104094255-104105804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104096928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 70
(N70D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085052]
|
| AlphaFold |
Q8BYY9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085052
AA Change: N70D
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: N70D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
1.1e-153 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh4 |
T |
A |
14: 50,008,049 (GRCm39) |
M475L |
probably benign |
Het |
| Cenpb |
A |
T |
2: 131,021,165 (GRCm39) |
L211H |
probably damaging |
Het |
| Ckmt1 |
C |
T |
2: 121,190,151 (GRCm39) |
P82S |
probably damaging |
Het |
| Cspg4b |
C |
T |
13: 113,504,366 (GRCm39) |
Q1832* |
probably null |
Het |
| Fbxo38 |
A |
G |
18: 62,666,986 (GRCm39) |
C138R |
probably damaging |
Het |
| Hkdc1 |
A |
G |
10: 62,239,385 (GRCm39) |
V306A |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,034,851 (GRCm39) |
N275S |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,274,667 (GRCm39) |
D185G |
probably benign |
Het |
| Prtg |
T |
A |
9: 72,758,964 (GRCm39) |
N439K |
probably damaging |
Het |
| Rsf1 |
GGCGGCGG |
GGCGGCGGGGGCGGCGG |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
| Shc1 |
T |
C |
3: 89,329,269 (GRCm39) |
S38P |
possibly damaging |
Het |
| Slc13a2 |
T |
A |
11: 78,288,657 (GRCm39) |
I540F |
probably benign |
Het |
| Tmem33 |
T |
C |
5: 67,443,468 (GRCm39) |
V215A |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 21,018,314 (GRCm39) |
V53A |
probably benign |
Het |
| Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Serpina3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Serpina3b
|
APN |
12 |
104,105,046 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00427:Serpina3b
|
APN |
12 |
104,099,200 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01637:Serpina3b
|
APN |
12 |
104,099,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01738:Serpina3b
|
APN |
12 |
104,097,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02403:Serpina3b
|
APN |
12 |
104,096,721 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL03118:Serpina3b
|
APN |
12 |
104,097,313 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0141:Serpina3b
|
UTSW |
12 |
104,097,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0217:Serpina3b
|
UTSW |
12 |
104,096,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Serpina3b
|
UTSW |
12 |
104,096,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Serpina3b
|
UTSW |
12 |
104,097,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1463:Serpina3b
|
UTSW |
12 |
104,104,969 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1802:Serpina3b
|
UTSW |
12 |
104,104,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Serpina3b
|
UTSW |
12 |
104,105,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3871:Serpina3b
|
UTSW |
12 |
104,105,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Serpina3b
|
UTSW |
12 |
104,096,889 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5827:Serpina3b
|
UTSW |
12 |
104,097,036 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5970:Serpina3b
|
UTSW |
12 |
104,100,350 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6014:Serpina3b
|
UTSW |
12 |
104,097,356 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6102:Serpina3b
|
UTSW |
12 |
104,100,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6807:Serpina3b
|
UTSW |
12 |
104,099,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6836:Serpina3b
|
UTSW |
12 |
104,100,341 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6893:Serpina3b
|
UTSW |
12 |
104,099,285 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7414:Serpina3b
|
UTSW |
12 |
104,099,145 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7539:Serpina3b
|
UTSW |
12 |
104,096,970 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7748:Serpina3b
|
UTSW |
12 |
104,096,722 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7817:Serpina3b
|
UTSW |
12 |
104,099,223 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8040:Serpina3b
|
UTSW |
12 |
104,097,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8143:Serpina3b
|
UTSW |
12 |
104,096,793 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8360:Serpina3b
|
UTSW |
12 |
104,104,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTCTAGGGCTCTTAATGG -3'
(R):5'- GCATTGCCTGTCCTGATCTG -3'
Sequencing Primer
(F):5'- CTCTAGGGCTCTTAATGGCTGAGATC -3'
(R):5'- TGTACCTGGTCCCCTGGATG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation