Incidental Mutation 'R3108:Serpina1a'
| ID |
263675 |
| 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 |
040582-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3108 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
C |
T |
7: 78,973,333 (GRCm39) |
S104L |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,119,453 (GRCm39) |
Y1032C |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,898,226 (GRCm39) |
|
probably null |
Het |
| Ccnb1 |
C |
T |
13: 100,918,132 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,830,545 (GRCm39) |
N1197S |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,462,377 (GRCm39) |
V1691A |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,819,669 (GRCm39) |
K1760R |
probably benign |
Het |
| Drd4 |
T |
A |
7: 140,872,195 (GRCm39) |
V82E |
possibly damaging |
Het |
| Dtx2 |
G |
A |
5: 136,050,670 (GRCm39) |
V323M |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,498,210 (GRCm39) |
|
probably null |
Het |
| Igkv11-125 |
T |
C |
6: 67,890,855 (GRCm39) |
F58L |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,076 (GRCm39) |
S279P |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,412,496 (GRCm39) |
T1814M |
unknown |
Het |
| Nkpd1 |
G |
A |
7: 19,256,903 (GRCm39) |
M227I |
probably damaging |
Het |
| Ntrk3 |
C |
T |
7: 78,110,263 (GRCm39) |
V324M |
probably benign |
Het |
| Nup155 |
C |
A |
15: 8,146,790 (GRCm39) |
T210K |
probably null |
Het |
| Or52s1b |
T |
A |
7: 102,822,293 (GRCm39) |
M184L |
probably damaging |
Het |
| Or9s18 |
T |
C |
13: 65,300,875 (GRCm39) |
V279A |
possibly damaging |
Het |
| Pak4 |
A |
T |
7: 28,263,769 (GRCm39) |
Y322* |
probably null |
Het |
| Raph1 |
G |
A |
1: 60,532,545 (GRCm39) |
A696V |
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,089,810 (GRCm39) |
Y346N |
possibly damaging |
Het |
| Slc34a3 |
G |
T |
2: 25,119,257 (GRCm39) |
Q538K |
probably benign |
Het |
| Slf1 |
C |
T |
13: 77,274,840 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
G |
T |
17: 88,943,583 (GRCm39) |
E330* |
probably null |
Het |
| Trhde |
C |
T |
10: 114,427,971 (GRCm39) |
E442K |
probably damaging |
Het |
| Unc45a |
A |
G |
7: 79,981,294 (GRCm39) |
|
probably benign |
Het |
| Zfp169 |
A |
G |
13: 48,643,472 (GRCm39) |
S552P |
possibly damaging |
Het |
| Zfp229 |
T |
A |
17: 21,965,797 (GRCm39) |
C676S |
probably 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 |
|
|
R3107: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 |
Incidental Mutation