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 |