Incidental Mutation 'R5736:Serpinb6e'
ID |
451714 |
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 |
MMRRC Submission |
043194-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R5736 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
34016328-34027391 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34016753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 327
(F327L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105904
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110275]
|
AlphaFold |
I7HJI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110275
AA Change: F327L
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105904 Gene: ENSMUSG00000069248 AA Change: F327L
Domain | Start | End | E-Value | Type |
SERPIN
|
65 |
429 |
4.43e-149 |
SMART |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.5%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630095N17Rik |
G |
A |
1: 75,197,211 (GRCm39) |
|
probably benign |
Het |
Akt1 |
G |
A |
12: 112,623,284 (GRCm39) |
R367C |
probably benign |
Het |
Arl8a |
T |
A |
1: 135,082,458 (GRCm39) |
S150T |
probably benign |
Het |
B020004C17Rik |
A |
T |
14: 57,254,823 (GRCm39) |
T216S |
possibly damaging |
Het |
Casz1 |
G |
A |
4: 149,013,867 (GRCm39) |
V144I |
probably benign |
Het |
Cd274 |
G |
T |
19: 29,359,940 (GRCm39) |
L248F |
probably benign |
Het |
Crisp4 |
T |
C |
1: 18,185,939 (GRCm39) |
T266A |
probably benign |
Het |
Dlx6 |
A |
T |
6: 6,863,660 (GRCm39) |
H94L |
probably damaging |
Het |
Exoc1 |
A |
G |
5: 76,685,615 (GRCm39) |
N109S |
possibly damaging |
Het |
Grik2 |
T |
C |
10: 49,280,506 (GRCm39) |
E128G |
probably damaging |
Het |
Hs3st4 |
G |
A |
7: 123,996,662 (GRCm39) |
E443K |
probably damaging |
Het |
Ihh |
T |
C |
1: 74,985,286 (GRCm39) |
T400A |
probably benign |
Het |
Lamb1 |
T |
A |
12: 31,352,664 (GRCm39) |
C806* |
probably null |
Het |
Lrrn1 |
T |
C |
6: 107,544,345 (GRCm39) |
S48P |
probably damaging |
Het |
Lsm11 |
T |
C |
11: 45,835,594 (GRCm39) |
N49S |
possibly damaging |
Het |
Map3k11 |
C |
T |
19: 5,746,739 (GRCm39) |
A507V |
probably damaging |
Het |
Mill2 |
A |
T |
7: 18,592,174 (GRCm39) |
Q265L |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,268,416 (GRCm39) |
T368A |
probably benign |
Het |
Or4s2b |
T |
C |
2: 88,508,985 (GRCm39) |
M255T |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Peg10 |
T |
A |
6: 4,754,423 (GRCm39) |
L68Q |
probably benign |
Het |
Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
Prkag2 |
A |
T |
5: 25,083,720 (GRCm39) |
Y88N |
probably damaging |
Het |
Prmt5 |
A |
C |
14: 54,752,297 (GRCm39) |
D166E |
probably null |
Het |
Robo4 |
A |
T |
9: 37,316,093 (GRCm39) |
T366S |
possibly damaging |
Het |
Samd3 |
T |
C |
10: 26,146,070 (GRCm39) |
I365T |
probably damaging |
Het |
Sdf2l1 |
A |
T |
16: 16,949,571 (GRCm39) |
C92S |
probably damaging |
Het |
Slc17a6 |
G |
A |
7: 51,294,841 (GRCm39) |
V183I |
possibly damaging |
Het |
Slc6a11 |
T |
C |
6: 114,139,123 (GRCm39) |
S244P |
probably damaging |
Het |
Slc6a5 |
A |
G |
7: 49,609,102 (GRCm39) |
D769G |
probably benign |
Het |
Slc7a14 |
A |
T |
3: 31,278,059 (GRCm39) |
D515E |
probably benign |
Het |
Slco2a1 |
A |
T |
9: 102,945,029 (GRCm39) |
S135C |
probably benign |
Het |
Spidr |
A |
T |
16: 15,715,162 (GRCm39) |
D801E |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,041,821 (GRCm39) |
|
probably null |
Het |
Tmem71 |
C |
T |
15: 66,404,496 (GRCm39) |
V264I |
probably benign |
Het |
Zfp563 |
G |
T |
17: 33,323,960 (GRCm39) |
R185L |
possibly damaging |
Het |
Zfp941 |
G |
A |
7: 140,392,973 (GRCm39) |
P129S |
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 |
R4549:Serpinb6e
|
UTSW |
13 |
34,017,214 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
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'- ACTGTGACTATTTCAGTGGCAAC -3'
(R):5'- GGACCATGCCTTTCAAGCTC -3'
Sequencing Primer
(F):5'- AACTGCAGCCTCTGTGC -3'
(R):5'- ATGCCTTTCAAGCTCTGCAC -3'
|
Posted On |
2017-01-03 |