Incidental Mutation 'R2296:Serpinb3a'
| ID |
245166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb3a
|
| Ensembl Gene |
ENSMUSG00000044594 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3A |
| Synonyms |
Sqn5 |
| MMRRC Submission |
040295-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R2296 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
106973317-106980033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106975291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 172
(V172D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027567]
[ENSMUST00000112717]
|
| AlphaFold |
G3X9V8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027567
AA Change: V172D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027567
Gene: ENSMUSG00000044594
AA Change: V172D
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
387 |
6.36e-182 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112717
AA Change: V172D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108337
Gene: ENSMUSG00000044594
AA Change: V172D
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
387 |
6.36e-182 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein is highly expressed in many tumor cells and can inactivate granzyme M, an enzyme that kills tumor cells. This protein, along with serpin B3, can be processed into smaller fragments that aggregate to form an autoantigen in psoriasis, probably by causing chronic inflammation. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced susceptibility to allergen-induced airway hyperresponsiveness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
G |
1: 11,582,275 (GRCm39) |
E68G |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,044,879 (GRCm39) |
D820G |
probably damaging |
Het |
| Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
| Calr3 |
C |
T |
8: 73,178,469 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,299,492 (GRCm39) |
L344P |
probably damaging |
Het |
| Cop1 |
G |
A |
1: 159,072,220 (GRCm39) |
V109M |
possibly damaging |
Het |
| Dennd4b |
T |
A |
3: 90,182,821 (GRCm39) |
N879K |
probably damaging |
Het |
| Fam13b |
T |
C |
18: 34,627,814 (GRCm39) |
D129G |
possibly damaging |
Het |
| Fam222a |
C |
A |
5: 114,749,027 (GRCm39) |
H74Q |
possibly damaging |
Het |
| Gata5 |
A |
G |
2: 179,970,113 (GRCm39) |
M278T |
possibly damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Iigp1c |
T |
A |
18: 60,378,542 (GRCm39) |
C26S |
probably benign |
Het |
| Inpp5k |
T |
G |
11: 75,530,313 (GRCm39) |
L251R |
probably damaging |
Het |
| Lrrc36 |
T |
G |
8: 106,187,651 (GRCm39) |
D522E |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nras |
T |
A |
3: 102,966,350 (GRCm39) |
|
probably null |
Het |
| Nudt12 |
A |
G |
17: 59,317,044 (GRCm39) |
V201A |
possibly damaging |
Het |
| Phf2 |
T |
C |
13: 48,988,754 (GRCm39) |
E39G |
unknown |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Trim3 |
A |
G |
7: 105,262,481 (GRCm39) |
I559T |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,039,728 (GRCm39) |
S1304T |
possibly damaging |
Het |
| Xrcc5 |
A |
T |
1: 72,385,485 (GRCm39) |
K525N |
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,583,467 (GRCm39) |
V705D |
probably damaging |
Het |
|
| Other mutations in Serpinb3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Serpinb3a
|
APN |
1 |
106,978,789 (GRCm39) |
nonsense |
probably null |
|
|
IGL01940:Serpinb3a
|
APN |
1 |
106,973,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02077:Serpinb3a
|
APN |
1 |
106,974,111 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02136:Serpinb3a
|
APN |
1 |
106,974,015 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02214:Serpinb3a
|
APN |
1 |
106,976,218 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02239:Serpinb3a
|
APN |
1 |
106,979,418 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02508:Serpinb3a
|
APN |
1 |
106,973,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02533:Serpinb3a
|
APN |
1 |
106,974,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02860:Serpinb3a
|
APN |
1 |
106,977,183 (GRCm39) |
splice site |
probably benign |
|
|
IGL03013:Serpinb3a
|
APN |
1 |
106,973,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03391:Serpinb3a
|
APN |
1 |
106,974,072 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0321:Serpinb3a
|
UTSW |
1 |
106,975,212 (GRCm39) |
nonsense |
probably null |
|
|
R0416:Serpinb3a
|
UTSW |
1 |
106,977,116 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0494:Serpinb3a
|
UTSW |
1 |
106,975,212 (GRCm39) |
nonsense |
probably null |
|
|
R0498:Serpinb3a
|
UTSW |
1 |
106,974,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1223:Serpinb3a
|
UTSW |
1 |
106,975,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1596:Serpinb3a
|
UTSW |
1 |
106,974,904 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1655:Serpinb3a
|
UTSW |
1 |
106,973,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Serpinb3a
|
UTSW |
1 |
106,975,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4327:Serpinb3a
|
UTSW |
1 |
106,979,500 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R4612:Serpinb3a
|
UTSW |
1 |
106,975,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4830:Serpinb3a
|
UTSW |
1 |
106,976,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5016:Serpinb3a
|
UTSW |
1 |
106,974,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5483:Serpinb3a
|
UTSW |
1 |
106,974,899 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5619:Serpinb3a
|
UTSW |
1 |
106,974,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7227:Serpinb3a
|
UTSW |
1 |
106,979,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8277:Serpinb3a
|
UTSW |
1 |
106,973,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8526:Serpinb3a
|
UTSW |
1 |
106,976,504 (GRCm39) |
splice site |
probably null |
|
|
R8992:Serpinb3a
|
UTSW |
1 |
106,974,907 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9335:Serpinb3a
|
UTSW |
1 |
106,974,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9799:Serpinb3a
|
UTSW |
1 |
106,974,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Serpinb3a
|
UTSW |
1 |
106,978,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGTTTTGAGGTCTACACAGAG -3'
(R):5'- GCATCATTCATGTAACGATTTGGG -3'
Sequencing Primer
(F):5'- CTGCCAACAATACCTTGTTC -3'
(R):5'- TCATGTAACGATTTGGGTAAATAGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation