Incidental Mutation 'R3107:Serpina1a'
ID |
263634 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpina1a
|
Ensembl Gene |
ENSMUSG00000066366 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 1A |
Synonyms |
Aat2, Aat-2, Spi1-1, PI1 |
MMRRC Submission |
040581-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3107 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
103819848-103829821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103820100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 382
(I382N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072876]
[ENSMUST00000085056]
[ENSMUST00000124717]
|
AlphaFold |
P07758 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072876
AA Change: I382N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072652 Gene: ENSMUSG00000066366 AA Change: I382N
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
SERPIN
|
53 |
410 |
1.09e-203 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085056
AA Change: I359N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082132 Gene: ENSMUSG00000066366 AA Change: I359N
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
SERPIN
|
53 |
410 |
1.09e-203 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124717
|
SMART Domains |
Protein: ENSMUSP00000120398 Gene: ENSMUSG00000066366
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
Pfam:Serpin
|
46 |
96 |
2.7e-16 |
PFAM |
|
Meta Mutation Damage Score |
0.8583 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele die prior to E8.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf4 |
A |
T |
17: 42,977,758 (GRCm39) |
Y528* |
probably null |
Het |
Ankrd26 |
A |
T |
6: 118,533,204 (GRCm39) |
F198L |
probably benign |
Het |
Arnt2 |
A |
G |
7: 83,911,652 (GRCm39) |
S607P |
possibly damaging |
Het |
Brd10 |
A |
T |
19: 29,700,847 (GRCm39) |
L814H |
probably damaging |
Het |
Ccdc17 |
T |
C |
4: 116,455,464 (GRCm39) |
V269A |
probably benign |
Het |
Cers1 |
T |
A |
8: 70,775,286 (GRCm39) |
H233Q |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,830,545 (GRCm39) |
N1197S |
probably benign |
Het |
Cfb |
A |
G |
17: 35,080,800 (GRCm39) |
Y66H |
possibly damaging |
Het |
Clspn |
A |
G |
4: 126,485,452 (GRCm39) |
D1247G |
probably benign |
Het |
Cnnm1 |
T |
C |
19: 43,430,000 (GRCm39) |
C373R |
probably damaging |
Het |
Col19a1 |
T |
C |
1: 24,377,017 (GRCm39) |
T443A |
possibly damaging |
Het |
Cubn |
T |
C |
2: 13,367,158 (GRCm39) |
S1571G |
possibly damaging |
Het |
Ddt |
C |
T |
10: 75,608,597 (GRCm39) |
E42K |
probably benign |
Het |
Dmrt2 |
C |
A |
19: 25,655,055 (GRCm39) |
T218N |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,392,033 (GRCm39) |
G3798E |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fam114a2 |
C |
A |
11: 57,390,561 (GRCm39) |
K317N |
probably benign |
Het |
Fyn |
G |
C |
10: 39,427,451 (GRCm39) |
D445H |
probably damaging |
Het |
Gprasp1 |
A |
T |
X: 134,700,508 (GRCm39) |
M234L |
probably benign |
Het |
Ibtk |
T |
C |
9: 85,592,467 (GRCm39) |
Y997C |
probably damaging |
Het |
Il12rb2 |
A |
G |
6: 67,337,782 (GRCm39) |
V33A |
probably damaging |
Het |
Ints6 |
T |
C |
14: 62,998,041 (GRCm39) |
T23A |
possibly damaging |
Het |
Itk |
C |
A |
11: 46,218,291 (GRCm39) |
G624V |
probably benign |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Mab21l3 |
T |
A |
3: 101,734,112 (GRCm39) |
I109F |
probably damaging |
Het |
Mov10 |
T |
C |
3: 104,707,040 (GRCm39) |
E653G |
probably damaging |
Het |
Or8b51 |
C |
T |
9: 38,569,307 (GRCm39) |
C127Y |
possibly damaging |
Het |
Plg |
T |
C |
17: 12,603,316 (GRCm39) |
V74A |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
Rbmxl2 |
G |
A |
7: 106,809,624 (GRCm39) |
G303E |
probably damaging |
Het |
Satb1 |
A |
T |
17: 52,089,810 (GRCm39) |
Y346N |
possibly damaging |
Het |
Slc6a2 |
C |
A |
8: 93,687,906 (GRCm39) |
Q11K |
probably benign |
Het |
Slc6a20a |
A |
C |
9: 123,470,773 (GRCm39) |
|
probably null |
Het |
Sorcs1 |
T |
C |
19: 50,199,088 (GRCm39) |
E825G |
possibly damaging |
Het |
Sval1 |
C |
G |
6: 41,932,876 (GRCm39) |
P145A |
probably damaging |
Het |
Trhde |
C |
T |
10: 114,427,971 (GRCm39) |
E442K |
probably damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,916,491 (GRCm39) |
D368V |
possibly damaging |
Het |
|
Other mutations in Serpina1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02159:Serpina1a
|
APN |
12 |
103,820,965 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02511:Serpina1a
|
APN |
12 |
103,822,226 (GRCm39) |
nonsense |
probably null |
|
R0071:Serpina1a
|
UTSW |
12 |
103,822,002 (GRCm39) |
missense |
probably benign |
0.03 |
R1610:Serpina1a
|
UTSW |
12 |
103,820,096 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1959:Serpina1a
|
UTSW |
12 |
103,820,059 (GRCm39) |
nonsense |
probably null |
|
R3108:Serpina1a
|
UTSW |
12 |
103,820,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R4303:Serpina1a
|
UTSW |
12 |
103,820,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R4814:Serpina1a
|
UTSW |
12 |
103,821,022 (GRCm39) |
missense |
probably benign |
0.01 |
R6011:Serpina1a
|
UTSW |
12 |
103,823,728 (GRCm39) |
missense |
probably damaging |
0.97 |
R6547:Serpina1a
|
UTSW |
12 |
103,822,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R6548:Serpina1a
|
UTSW |
12 |
103,820,017 (GRCm39) |
missense |
probably benign |
0.00 |
R6724:Serpina1a
|
UTSW |
12 |
103,826,679 (GRCm39) |
intron |
probably benign |
|
R6915:Serpina1a
|
UTSW |
12 |
103,820,110 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6991:Serpina1a
|
UTSW |
12 |
103,820,092 (GRCm39) |
missense |
probably benign |
0.04 |
R7570:Serpina1a
|
UTSW |
12 |
103,820,096 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7629:Serpina1a
|
UTSW |
12 |
103,820,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R8353:Serpina1a
|
UTSW |
12 |
103,822,038 (GRCm39) |
missense |
probably benign |
0.01 |
R8556:Serpina1a
|
UTSW |
12 |
103,822,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R8909:Serpina1a
|
UTSW |
12 |
103,820,938 (GRCm39) |
missense |
probably damaging |
0.97 |
R9021:Serpina1a
|
UTSW |
12 |
103,824,293 (GRCm39) |
missense |
probably benign |
0.01 |
R9058:Serpina1a
|
UTSW |
12 |
103,820,001 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9786:Serpina1a
|
UTSW |
12 |
103,822,140 (GRCm39) |
missense |
possibly damaging |
0.93 |
Z1088:Serpina1a
|
UTSW |
12 |
103,820,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAGCCTGTGTTTAATGGAAGG -3'
(R):5'- TTAAGTGGTCACCGTGAAAGGG -3'
Sequencing Primer
(F):5'- CCTGTGTTTAATGGAAGGAACCC -3'
(R):5'- TCACCGTGAAAGGGGTCTG -3'
|
Posted On |
2015-02-05 |