Incidental Mutation 'R0592:Serpinb6e'
ID |
56034 |
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 |
038782-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R0592 (G1)
|
Quality Score |
205 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
34016328-34027391 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34025057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 78
(N78I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105904
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110275]
[ENSMUST00000145221]
|
AlphaFold |
I7HJI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110275
AA Change: N78I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105904 Gene: ENSMUSG00000069248 AA Change: N78I
Domain | Start | End | E-Value | Type |
SERPIN
|
65 |
429 |
4.43e-149 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000145221
AA Change: N78I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117577 Gene: ENSMUSG00000069248 AA Change: N78I
Domain | Start | End | E-Value | Type |
Pfam:Serpin
|
58 |
101 |
1.9e-9 |
PFAM |
|
Meta Mutation Damage Score |
0.9742 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
A |
T |
3: 36,664,446 (GRCm39) |
V53D |
probably benign |
Het |
Bglap |
T |
A |
3: 88,290,962 (GRCm39) |
I90F |
probably benign |
Het |
C2cd4b |
G |
A |
9: 67,667,973 (GRCm39) |
R323H |
probably damaging |
Het |
Cdh5 |
T |
A |
8: 104,857,534 (GRCm39) |
|
probably null |
Het |
Cdh8 |
T |
A |
8: 100,006,110 (GRCm39) |
D159V |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,495,771 (GRCm39) |
Y3229H |
possibly damaging |
Het |
Dzip1 |
T |
C |
14: 119,139,551 (GRCm39) |
E381G |
probably damaging |
Het |
Elmod1 |
A |
G |
9: 53,833,390 (GRCm39) |
|
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,665,570 (GRCm39) |
S811P |
probably benign |
Het |
Fhl3 |
A |
G |
4: 124,599,470 (GRCm39) |
Y15C |
probably benign |
Het |
Gstz1 |
G |
A |
12: 87,210,495 (GRCm39) |
S126N |
probably benign |
Het |
Hey2 |
C |
A |
10: 30,709,953 (GRCm39) |
A267S |
probably benign |
Het |
Iqce |
A |
T |
5: 140,671,862 (GRCm39) |
|
probably null |
Het |
Katnal2 |
A |
T |
18: 77,090,256 (GRCm39) |
|
probably null |
Het |
Kdm2b |
G |
A |
5: 123,099,197 (GRCm39) |
|
probably benign |
Het |
Mov10l1 |
A |
G |
15: 88,882,969 (GRCm39) |
|
probably null |
Het |
Numa1 |
A |
G |
7: 101,663,104 (GRCm39) |
T724A |
probably benign |
Het |
Oas3 |
A |
G |
5: 120,909,214 (GRCm39) |
F244S |
probably damaging |
Het |
Or2d2 |
G |
A |
7: 106,728,550 (GRCm39) |
L17F |
probably benign |
Het |
Or5b117 |
T |
C |
19: 13,431,069 (GRCm39) |
I271V |
probably benign |
Het |
Rab37 |
T |
G |
11: 115,051,349 (GRCm39) |
|
probably benign |
Het |
Riox2 |
T |
C |
16: 59,309,942 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,508,826 (GRCm39) |
S3358P |
probably damaging |
Het |
Sash1 |
T |
A |
10: 8,605,546 (GRCm39) |
H948L |
probably benign |
Het |
Slc25a47 |
G |
A |
12: 108,820,184 (GRCm39) |
V63M |
probably damaging |
Het |
Slc9b1 |
A |
T |
3: 135,099,835 (GRCm39) |
|
probably benign |
Het |
Strip2 |
T |
A |
6: 29,931,209 (GRCm39) |
S387T |
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,573,777 (GRCm39) |
N145S |
probably benign |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Trmu |
T |
C |
15: 85,781,027 (GRCm39) |
|
probably benign |
Het |
Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
Vmn2r116 |
C |
T |
17: 23,605,889 (GRCm39) |
T267I |
probably damaging |
Het |
Whrn |
C |
A |
4: 63,333,804 (GRCm39) |
A450S |
probably damaging |
Het |
Ypel1 |
A |
G |
16: 16,925,083 (GRCm39) |
S30P |
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 |
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 |
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'- GCTAGGATTCCAACAAGGACAGCAC -3'
(R):5'- CAAGCAGTCAGACTTCGTACTTCCC -3'
Sequencing Primer
(F):5'- TCCCTATGTCAACTGCAAGAG -3'
(R):5'- gcctggacttgctatatcgac -3'
|
Posted On |
2013-07-11 |