Incidental Mutation 'R6548:Serpina1a'
| ID |
521397 |
| 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 |
044673-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6548 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
103819848-103829821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 103820017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 387
(H387N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072876]
[ENSMUST00000085056]
[ENSMUST00000124717]
|
| AlphaFold |
P07758 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072876
AA Change: H410N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072652
Gene: ENSMUSG00000066366
AA Change: H410N
| 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: ENSMUST00000085056
AA Change: H387N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000082132
Gene: ENSMUSG00000066366
AA Change: H387N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
93% (38/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
T |
C |
10: 43,050,769 (GRCm39) |
L21P |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,728,240 (GRCm39) |
A642V |
probably damaging |
Het |
| Bap1 |
A |
G |
14: 30,978,182 (GRCm39) |
N349S |
probably benign |
Het |
| Brca1 |
G |
T |
11: 101,415,591 (GRCm39) |
Q32K |
probably damaging |
Het |
| Ccdc39 |
A |
T |
3: 33,892,108 (GRCm39) |
N121K |
probably benign |
Het |
| Champ1 |
A |
T |
8: 13,930,002 (GRCm39) |
N720I |
probably damaging |
Het |
| Chd3 |
T |
A |
11: 69,252,886 (GRCm39) |
R216* |
probably null |
Het |
| D630003M21Rik |
A |
G |
2: 158,047,619 (GRCm39) |
|
probably null |
Het |
| Exoc2 |
A |
T |
13: 31,010,047 (GRCm39) |
V804E |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,791,343 (GRCm39) |
N868S |
probably benign |
Het |
| Gm10376 |
T |
C |
14: 42,873,025 (GRCm39) |
M1V |
probably null |
Het |
| Gpc2 |
G |
A |
5: 138,275,533 (GRCm39) |
|
probably null |
Het |
| Gpr37 |
G |
A |
6: 25,688,812 (GRCm39) |
T95I |
probably benign |
Het |
| Ints3 |
G |
A |
3: 90,299,431 (GRCm39) |
|
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,839 (GRCm39) |
E334G |
probably damaging |
Het |
| Lrrc75a |
T |
A |
11: 62,496,921 (GRCm39) |
T214S |
probably damaging |
Het |
| Lyar |
A |
G |
5: 38,385,202 (GRCm39) |
I81V |
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,871,998 (GRCm39) |
L342Q |
probably damaging |
Het |
| Mug2 |
C |
T |
6: 122,024,401 (GRCm39) |
A491V |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,077,438 (GRCm39) |
T858A |
probably benign |
Het |
| Net1 |
C |
T |
13: 3,936,074 (GRCm39) |
|
probably null |
Het |
| Or52s1 |
T |
A |
7: 102,861,111 (GRCm39) |
Y4N |
probably benign |
Het |
| Or5p76 |
T |
C |
7: 108,122,423 (GRCm39) |
T245A |
probably benign |
Het |
| Platr25 |
A |
T |
13: 62,821,623 (GRCm39) |
I110N |
possibly damaging |
Het |
| Plk5 |
T |
A |
10: 80,198,879 (GRCm39) |
L412H |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,812,790 (GRCm39) |
T605S |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,683,707 (GRCm39) |
D3119V |
probably damaging |
Het |
| Serpina1d |
G |
T |
12: 103,733,811 (GRCm39) |
N164K |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,836,307 (GRCm39) |
Y69H |
probably damaging |
Het |
| Sod2 |
A |
G |
17: 13,227,250 (GRCm39) |
K68R |
probably benign |
Het |
| Ssbp2 |
A |
G |
13: 91,687,470 (GRCm39) |
N51S |
possibly damaging |
Het |
| Tcl1b1 |
A |
G |
12: 105,130,663 (GRCm39) |
R49G |
probably benign |
Het |
| Tgfb1 |
A |
G |
7: 25,396,350 (GRCm39) |
I214M |
probably benign |
Het |
| Tln1 |
A |
G |
4: 43,547,525 (GRCm39) |
I812T |
probably damaging |
Het |
| Topaz1 |
T |
A |
9: 122,577,419 (GRCm39) |
C110S |
possibly damaging |
Het |
| Ubap2l |
A |
G |
3: 89,930,867 (GRCm39) |
F393L |
probably damaging |
Het |
| Vmn1r62 |
G |
A |
7: 5,678,769 (GRCm39) |
G150D |
probably damaging |
Het |
| Wdr24 |
C |
A |
17: 26,046,899 (GRCm39) |
Q651K |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,911,322 (GRCm39) |
T905A |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,285,109 (GRCm39) |
F2382S |
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 |
|
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 |
|
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'- AGTCAAGGACTTGCTGTAGC -3'
(R):5'- TTAAGTGGTCACCGTGAAAGGG -3'
Sequencing Primer
(F):5'- CCCAATTCAGAAGGAAGG -3'
(R):5'- TGAGTCCCATGTGAGACATAGCTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation