Incidental Mutation 'R0739:Serpina3f'
ID |
70636 |
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 |
038920-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R0739 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
104180803-104187388 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104184612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 252
(V252A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126520
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101080]
[ENSMUST00000121337]
[ENSMUST00000167049]
|
AlphaFold |
Q80X76 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101080
AA Change: V252A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000098641 Gene: ENSMUSG00000066363 AA Change: V252A
Domain | Start | End | E-Value | Type |
SERPIN
|
46 |
408 |
1.58e-186 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121337
AA Change: V252A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113945 Gene: ENSMUSG00000066363 AA Change: V252A
Domain | Start | End | E-Value | Type |
SERPIN
|
46 |
408 |
1.58e-186 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167049
AA Change: V252A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000126520 Gene: ENSMUSG00000066363 AA Change: V252A
Domain | Start | End | E-Value | Type |
SERPIN
|
46 |
408 |
1.58e-186 |
SMART |
|
Meta Mutation Damage Score |
0.4304 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,227,961 (GRCm39) |
E327G |
probably damaging |
Het |
Adcy6 |
T |
C |
15: 98,496,260 (GRCm39) |
D593G |
probably benign |
Het |
Ankmy1 |
T |
C |
1: 92,816,370 (GRCm39) |
D248G |
probably damaging |
Het |
Atp2a1 |
T |
C |
7: 126,047,428 (GRCm39) |
I743V |
possibly damaging |
Het |
Axdnd1 |
T |
C |
1: 156,208,456 (GRCm39) |
N396D |
possibly damaging |
Het |
Cacna1e |
C |
T |
1: 154,318,024 (GRCm39) |
A1391T |
probably damaging |
Het |
Ccr8 |
G |
A |
9: 119,923,415 (GRCm39) |
G177S |
probably damaging |
Het |
Clmn |
C |
T |
12: 104,747,276 (GRCm39) |
G757D |
possibly damaging |
Het |
Cntn2 |
T |
A |
1: 132,456,750 (GRCm39) |
I99F |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,650 (GRCm39) |
A271G |
unknown |
Het |
Dnah1 |
A |
T |
14: 30,987,872 (GRCm39) |
C3515* |
probably null |
Het |
Eif2d |
A |
G |
1: 131,082,100 (GRCm39) |
Y64C |
probably damaging |
Het |
Elovl4 |
A |
G |
9: 83,667,162 (GRCm39) |
F65S |
probably damaging |
Het |
F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,209,550 (GRCm39) |
E938G |
probably benign |
Het |
Foxn1 |
T |
C |
11: 78,249,825 (GRCm39) |
T567A |
probably benign |
Het |
Gabrr1 |
T |
C |
4: 33,162,781 (GRCm39) |
M449T |
probably benign |
Het |
Gdf2 |
C |
T |
14: 33,663,178 (GRCm39) |
P24L |
probably damaging |
Het |
Itgb3bp |
T |
C |
4: 99,690,433 (GRCm39) |
I29V |
probably benign |
Het |
Kcnk7 |
C |
T |
19: 5,754,830 (GRCm39) |
|
probably null |
Het |
Klf11 |
T |
C |
12: 24,710,247 (GRCm39) |
S432P |
probably damaging |
Het |
Neo1 |
C |
T |
9: 58,829,160 (GRCm39) |
A580T |
probably benign |
Het |
Nexmif |
G |
T |
X: 103,128,555 (GRCm39) |
Q1121K |
probably benign |
Het |
Or51aa5 |
T |
C |
7: 103,166,931 (GRCm39) |
Y220C |
probably damaging |
Het |
Or51f5 |
T |
C |
7: 102,423,872 (GRCm39) |
I47T |
probably damaging |
Het |
Or5p62 |
T |
C |
7: 107,771,217 (GRCm39) |
T245A |
probably benign |
Het |
Osgepl1 |
G |
T |
1: 53,362,354 (GRCm39) |
E399* |
probably null |
Het |
Parvg |
T |
A |
15: 84,215,222 (GRCm39) |
V197E |
probably damaging |
Het |
Pcyt2 |
A |
G |
11: 120,502,870 (GRCm39) |
L257P |
probably damaging |
Het |
Pou3f2 |
T |
C |
4: 22,486,960 (GRCm39) |
D391G |
possibly damaging |
Het |
Psmd2 |
C |
T |
16: 20,474,079 (GRCm39) |
R261C |
probably benign |
Het |
Ptpn13 |
T |
C |
5: 103,722,998 (GRCm39) |
F1981L |
probably benign |
Het |
Rbp3 |
A |
T |
14: 33,680,604 (GRCm39) |
I1069F |
probably benign |
Het |
Rhbdf2 |
A |
T |
11: 116,490,987 (GRCm39) |
L655Q |
probably damaging |
Het |
Sec16a |
A |
T |
2: 26,331,063 (GRCm39) |
N317K |
possibly damaging |
Het |
Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
Smyd2 |
T |
C |
1: 189,621,059 (GRCm39) |
T220A |
possibly damaging |
Het |
Snrpb2 |
T |
A |
2: 142,907,281 (GRCm39) |
|
probably benign |
Het |
Spopfm1 |
A |
G |
3: 94,173,102 (GRCm39) |
M37V |
probably benign |
Het |
Sptan1 |
A |
T |
2: 29,903,530 (GRCm39) |
I1502F |
probably damaging |
Het |
Srprb |
A |
T |
9: 103,074,794 (GRCm39) |
L116H |
probably damaging |
Het |
Stradb |
T |
A |
1: 59,016,174 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
C |
A |
2: 153,045,734 (GRCm39) |
F535L |
probably damaging |
Het |
Tmprss15 |
A |
T |
16: 78,821,736 (GRCm39) |
S440T |
possibly damaging |
Het |
Tpr |
C |
T |
1: 150,283,248 (GRCm39) |
A293V |
possibly damaging |
Het |
Usp34 |
C |
T |
11: 23,417,243 (GRCm39) |
T2964I |
possibly damaging |
Het |
Usp35 |
C |
A |
7: 96,960,874 (GRCm39) |
E851* |
probably null |
Het |
Zc3h14 |
T |
A |
12: 98,723,460 (GRCm39) |
V250D |
probably damaging |
Het |
Zfp568 |
T |
A |
7: 29,722,746 (GRCm39) |
C564S |
probably 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 |
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 |
R9726:Serpina3f
|
UTSW |
12 |
104,184,698 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Serpina3f
|
UTSW |
12 |
104,183,530 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAATGGGAGATGCCCTTTGATCCG -3'
(R):5'- GGGGACTCAATTCAACTCCACCTG -3'
Sequencing Primer
(F):5'- TGTGAAGGTGCCCATGATGA -3'
(R):5'- CTTTACACAGGCTGTAAGTGAGAC -3'
|
Posted On |
2013-09-30 |