Incidental Mutation 'R4549:Serpinb6e'
| ID |
333901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb6e
|
| Ensembl Gene |
ENSMUSG00000069248 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 6e |
| Synonyms |
Gm11396, ovalbumin, SPI3B |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R4549 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
34016328-34027391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34017214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 269
(T269S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110275]
|
| AlphaFold |
I7HJI3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110275
AA Change: T269S
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105904
Gene: ENSMUSG00000069248
AA Change: T269S
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
65 |
429 |
4.43e-149 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
G |
A |
9: 59,217,511 (GRCm39) |
V175I |
probably damaging |
Het |
| Aldh7a1 |
A |
G |
18: 56,665,066 (GRCm39) |
V371A |
probably benign |
Het |
| Ankrd60 |
T |
A |
2: 173,414,395 (GRCm39) |
T125S |
possibly damaging |
Het |
| Ap1m1 |
T |
A |
8: 72,994,064 (GRCm39) |
Y7N |
probably damaging |
Het |
| Carmil3 |
G |
A |
14: 55,743,121 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
A |
2: 82,819,972 (GRCm39) |
L5235H |
probably damaging |
Het |
| Galnt17 |
A |
G |
5: 131,179,775 (GRCm39) |
L124P |
probably damaging |
Het |
| Gnpda2 |
T |
A |
5: 69,743,872 (GRCm39) |
E54D |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Ly6f |
T |
A |
15: 75,143,579 (GRCm39) |
N95K |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,486 (GRCm39) |
D2425G |
possibly damaging |
Het |
| Prkdc |
G |
A |
16: 15,554,734 (GRCm39) |
E2152K |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,758,906 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
C |
A |
12: 74,017,053 (GRCm39) |
D9E |
probably damaging |
Het |
| Syt8 |
G |
T |
7: 141,993,199 (GRCm39) |
V35L |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,067,292 (GRCm39) |
R49G |
probably damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,993,749 (GRCm39) |
F286L |
probably damaging |
Het |
| Vwa5a |
A |
T |
9: 38,649,221 (GRCm39) |
K656N |
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,214,073 (GRCm39) |
V295A |
probably benign |
Het |
|
| Other mutations in Serpinb6e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02501:Serpinb6e
|
APN |
13 |
34,016,785 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03174:Serpinb6e
|
APN |
13 |
34,020,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0018:Serpinb6e
|
UTSW |
13 |
34,021,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:Serpinb6e
|
UTSW |
13 |
34,025,043 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0592:Serpinb6e
|
UTSW |
13 |
34,025,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0733:Serpinb6e
|
UTSW |
13 |
34,025,201 (GRCm39) |
missense |
probably benign |
|
|
R1347:Serpinb6e
|
UTSW |
13 |
34,025,180 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1347:Serpinb6e
|
UTSW |
13 |
34,025,180 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1651:Serpinb6e
|
UTSW |
13 |
34,020,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1822:Serpinb6e
|
UTSW |
13 |
34,017,217 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2031:Serpinb6e
|
UTSW |
13 |
34,021,733 (GRCm39) |
unclassified |
probably benign |
|
|
R3740:Serpinb6e
|
UTSW |
13 |
34,022,943 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4658:Serpinb6e
|
UTSW |
13 |
34,025,299 (GRCm39) |
start gained |
probably benign |
|
|
R5149:Serpinb6e
|
UTSW |
13 |
34,016,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5736:Serpinb6e
|
UTSW |
13 |
34,016,753 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6060:Serpinb6e
|
UTSW |
13 |
34,025,256 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6212:Serpinb6e
|
UTSW |
13 |
34,025,220 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6335:Serpinb6e
|
UTSW |
13 |
34,021,805 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6818:Serpinb6e
|
UTSW |
13 |
34,016,337 (GRCm39) |
splice site |
probably null |
|
|
R7089:Serpinb6e
|
UTSW |
13 |
34,016,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7151:Serpinb6e
|
UTSW |
13 |
34,021,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7263:Serpinb6e
|
UTSW |
13 |
34,022,923 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7528:Serpinb6e
|
UTSW |
13 |
34,016,474 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7944:Serpinb6e
|
UTSW |
13 |
34,016,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8789:Serpinb6e
|
UTSW |
13 |
34,017,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8792:Serpinb6e
|
UTSW |
13 |
34,022,942 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8794:Serpinb6e
|
UTSW |
13 |
34,024,977 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8944:Serpinb6e
|
UTSW |
13 |
34,017,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8967:Serpinb6e
|
UTSW |
13 |
34,020,419 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8989:Serpinb6e
|
UTSW |
13 |
34,022,967 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9167:Serpinb6e
|
UTSW |
13 |
34,023,009 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9310:Serpinb6e
|
UTSW |
13 |
34,017,204 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Serpinb6e
|
UTSW |
13 |
34,025,221 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCTTGAAAGGCATGGTC -3'
(R):5'- CAGGACTGATAGAATGTTCTAGAAGTC -3'
Sequencing Primer
(F):5'- CTTGAAAGGCATGGTCCAGGTC -3'
(R):5'- GTCCAATAAAGACAGTTCTCACAGGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation