Incidental Mutation 'R9726:Serpina3f'
| ID |
731058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina3f
|
| Ensembl Gene |
ENSMUSG00000066363 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3F |
| Synonyms |
2A1, alpha-1 antiproteinasin, antitrypsin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R9726 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104180803-104187388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104184698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 281
(P281S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101080]
[ENSMUST00000121337]
[ENSMUST00000167049]
|
| AlphaFold |
Q80X76 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101080
AA Change: P281S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098641
Gene: ENSMUSG00000066363
AA Change: P281S
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
46 |
408 |
1.58e-186 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121337
AA Change: P281S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113945
Gene: ENSMUSG00000066363
AA Change: P281S
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
46 |
408 |
1.58e-186 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167049
AA Change: P281S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126520
Gene: ENSMUSG00000066363
AA Change: P281S
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
46 |
408 |
1.58e-186 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
T |
C |
6: 72,325,650 (GRCm39) |
V122A |
probably damaging |
Het |
| Ago2 |
T |
C |
15: 72,998,919 (GRCm39) |
Y226C |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,053,757 (GRCm39) |
K1574R |
probably benign |
Het |
| Apob |
T |
C |
12: 8,056,926 (GRCm39) |
Y1803H |
probably damaging |
Het |
| Atosb |
T |
C |
4: 43,034,991 (GRCm39) |
D302G |
probably damaging |
Het |
| Bex6 |
A |
T |
16: 32,005,243 (GRCm39) |
D17V |
probably damaging |
Het |
| Cd72 |
T |
G |
4: 43,452,641 (GRCm39) |
|
probably null |
Het |
| Cdcp2 |
C |
A |
4: 106,959,936 (GRCm39) |
S117Y |
probably damaging |
Het |
| Cenpx |
A |
G |
11: 120,603,328 (GRCm39) |
L22P |
unknown |
Het |
| Cep135 |
A |
G |
5: 76,741,151 (GRCm39) |
T76A |
probably benign |
Het |
| Cps1 |
A |
T |
1: 67,195,395 (GRCm39) |
Q272L |
probably benign |
Het |
| Cul4a |
C |
T |
8: 13,156,208 (GRCm39) |
P55S |
probably benign |
Het |
| Cyp2f2 |
C |
T |
7: 26,821,411 (GRCm39) |
T108I |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,898,948 (GRCm39) |
V806A |
probably benign |
Het |
| Dgki |
T |
C |
6: 37,276,858 (GRCm39) |
H9R |
unknown |
Het |
| Dmxl2 |
A |
T |
9: 54,322,996 (GRCm39) |
S1289T |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,154,374 (GRCm39) |
V1691D |
probably damaging |
Het |
| Dock9 |
A |
C |
14: 121,835,149 (GRCm39) |
L1280R |
possibly damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,077,999 (GRCm39) |
S2901F |
possibly damaging |
Het |
| Fkbp8 |
A |
G |
8: 70,987,529 (GRCm39) |
K380E |
probably damaging |
Het |
| Ggta1 |
T |
C |
2: 35,292,422 (GRCm39) |
Y295C |
probably damaging |
Het |
| Gm7145 |
A |
G |
1: 117,913,706 (GRCm39) |
N196S |
possibly damaging |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Ighv11-1 |
T |
A |
12: 113,945,623 (GRCm39) |
I77L |
probably benign |
Het |
| Kcnmb3 |
A |
G |
3: 32,536,512 (GRCm39) |
V72A |
possibly damaging |
Het |
| Kel |
C |
T |
6: 41,678,971 (GRCm39) |
G164D |
probably damaging |
Het |
| Krba1 |
C |
A |
6: 48,389,298 (GRCm39) |
T606N |
possibly damaging |
Het |
| Lig3 |
T |
C |
11: 82,674,420 (GRCm39) |
L82P |
possibly damaging |
Het |
| Limd1 |
T |
C |
9: 123,308,984 (GRCm39) |
S228P |
probably benign |
Het |
| Mlf2 |
C |
T |
6: 124,911,621 (GRCm39) |
R157W |
probably benign |
Het |
| Naxe |
T |
C |
3: 87,965,719 (GRCm39) |
S27G |
probably benign |
Het |
| Oprm1 |
T |
A |
10: 6,929,694 (GRCm39) |
C345S |
probably benign |
Het |
| Or4c108 |
T |
A |
2: 88,804,221 (GRCm39) |
T5S |
probably benign |
Het |
| Or6c210 |
A |
G |
10: 129,495,920 (GRCm39) |
I82V |
possibly damaging |
Het |
| Oscp1 |
C |
A |
4: 125,970,626 (GRCm39) |
D138E |
probably benign |
Het |
| Panx3 |
T |
A |
9: 37,572,992 (GRCm39) |
Y186F |
probably damaging |
Het |
| Pip5kl1 |
T |
C |
2: 32,473,391 (GRCm39) |
Y343H |
probably damaging |
Het |
| Rasgef1b |
T |
C |
5: 99,382,349 (GRCm39) |
T214A |
probably damaging |
Het |
| Rims1 |
C |
A |
1: 22,669,493 (GRCm39) |
W105L |
probably null |
Het |
| Sgsm1 |
T |
C |
5: 113,458,418 (GRCm39) |
K20R |
probably benign |
Het |
| Sigirr |
A |
G |
7: 140,672,123 (GRCm39) |
L274P |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,491,410 (GRCm39) |
V49A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,118,605 (GRCm39) |
S4802G |
unknown |
Het |
| Sstr1 |
G |
A |
12: 58,259,484 (GRCm39) |
D36N |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,790,095 (GRCm39) |
D557V |
probably benign |
Het |
| Topaz1 |
GCAGGGGGATGAGAAGGTA |
G |
9: 122,603,934 (GRCm39) |
|
probably benign |
Het |
| Topaz1 |
CAGGGGGATGAGAAGGTAAAG |
CAG |
9: 122,603,935 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
T |
15: 27,912,752 (GRCm39) |
Q101K |
unknown |
Het |
| Vmn1r185 |
T |
A |
7: 26,310,783 (GRCm39) |
I241F |
probably damaging |
Het |
| Zfp229 |
T |
A |
17: 21,965,354 (GRCm39) |
I528N |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 725,476 (GRCm39) |
F763S |
possibly damaging |
Het |
|
| Other mutations in Serpina3f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00645:Serpina3f
|
APN |
12 |
104,183,599 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01375:Serpina3f
|
APN |
12 |
104,186,735 (GRCm39) |
missense |
unknown |
|
|
IGL01575:Serpina3f
|
APN |
12 |
104,184,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01712:Serpina3f
|
APN |
12 |
104,184,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02001:Serpina3f
|
APN |
12 |
104,185,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02882:Serpina3f
|
APN |
12 |
104,183,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03145:Serpina3f
|
APN |
12 |
104,183,716 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0158:Serpina3f
|
UTSW |
12 |
104,183,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0739:Serpina3f
|
UTSW |
12 |
104,184,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Serpina3f
|
UTSW |
12 |
104,183,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Serpina3f
|
UTSW |
12 |
104,183,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2010:Serpina3f
|
UTSW |
12 |
104,183,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2356:Serpina3f
|
UTSW |
12 |
104,183,626 (GRCm39) |
nonsense |
probably null |
|
|
R3926:Serpina3f
|
UTSW |
12 |
104,185,740 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3959:Serpina3f
|
UTSW |
12 |
104,183,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4619:Serpina3f
|
UTSW |
12 |
104,183,549 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4765:Serpina3f
|
UTSW |
12 |
104,185,690 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4977:Serpina3f
|
UTSW |
12 |
104,183,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4994:Serpina3f
|
UTSW |
12 |
104,186,615 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5432:Serpina3f
|
UTSW |
12 |
104,186,577 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5733:Serpina3f
|
UTSW |
12 |
104,183,182 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7670:Serpina3f
|
UTSW |
12 |
104,183,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7727:Serpina3f
|
UTSW |
12 |
104,184,477 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7754:Serpina3f
|
UTSW |
12 |
104,183,565 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8150:Serpina3f
|
UTSW |
12 |
104,185,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Serpina3f
|
UTSW |
12 |
104,183,702 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8801:Serpina3f
|
UTSW |
12 |
104,185,737 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8974:Serpina3f
|
UTSW |
12 |
104,183,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9223:Serpina3f
|
UTSW |
12 |
104,183,444 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9239:Serpina3f
|
UTSW |
12 |
104,184,710 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9623:Serpina3f
|
UTSW |
12 |
104,183,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9650:Serpina3f
|
UTSW |
12 |
104,186,519 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0028:Serpina3f
|
UTSW |
12 |
104,183,530 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACTTGGATGAGAATAGGTCTGTG -3'
(R):5'- TCAGGCCTGAAACACCTGAG -3'
Sequencing Primer
(F):5'- AATAGGTCTGTGAAGGTGCCC -3'
(R):5'- CCTGAAACACCTGAGGTAGTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation