Incidental Mutation 'R3740:Serpinb6e'
| ID |
270345 |
| 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 |
040726-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R3740 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
34016328-34027391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34022943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 147
(I147F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110275]
[ENSMUST00000145221]
|
| AlphaFold |
I7HJI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110275
AA Change: I147F
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105904
Gene: ENSMUSG00000069248
AA Change: I147F
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
65 |
429 |
4.43e-149 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145221
|
| SMART Domains |
Protein: ENSMUSP00000117577
Gene: ENSMUSG00000069248
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serpin
|
58 |
101 |
1.9e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
94% (29/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,865,535 (GRCm39) |
R103G |
probably benign |
Het |
| Atp8b2 |
C |
G |
3: 89,853,338 (GRCm39) |
A726P |
probably benign |
Het |
| Bbox1 |
A |
G |
2: 110,135,922 (GRCm39) |
I19T |
possibly damaging |
Het |
| Ctso |
G |
A |
3: 81,859,556 (GRCm39) |
V288I |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,053,892 (GRCm39) |
M1215K |
probably damaging |
Het |
| Fam174b |
T |
C |
7: 73,390,578 (GRCm39) |
|
probably null |
Het |
| Fgfr1op2 |
A |
G |
6: 146,496,731 (GRCm39) |
I190V |
possibly damaging |
Het |
| Flt1 |
G |
A |
5: 147,536,403 (GRCm39) |
R813W |
probably damaging |
Het |
| Gm6489 |
T |
A |
1: 31,326,764 (GRCm39) |
|
noncoding transcript |
Het |
| Hacd3 |
T |
C |
9: 64,928,755 (GRCm39) |
E24G |
possibly damaging |
Het |
| Kat6b |
T |
G |
14: 21,720,112 (GRCm39) |
M1488R |
probably damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,779,274 (GRCm39) |
V108A |
possibly damaging |
Het |
| Kif5a |
A |
G |
10: 127,079,337 (GRCm39) |
I287T |
probably damaging |
Het |
| Mical1 |
A |
C |
10: 41,355,067 (GRCm39) |
D192A |
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,896,345 (GRCm39) |
N678D |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,114,701 (GRCm39) |
M1759L |
probably benign |
Het |
| Optn |
C |
A |
2: 5,039,009 (GRCm39) |
M371I |
possibly damaging |
Het |
| Pik3cg |
T |
C |
12: 32,255,223 (GRCm39) |
K255E |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,443,667 (GRCm39) |
V380D |
probably damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,134,476 (GRCm39) |
M136V |
probably damaging |
Het |
| Syngr4 |
T |
C |
7: 45,545,194 (GRCm39) |
E5G |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,388 (GRCm39) |
D39G |
possibly damaging |
Het |
| Tmem88b |
A |
G |
4: 155,869,884 (GRCm39) |
L59P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,620,703 (GRCm39) |
K13995* |
probably null |
Het |
| Vmn1r225 |
A |
G |
17: 20,723,261 (GRCm39) |
Q234R |
possibly damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,595,151 (GRCm39) |
N568S |
probably benign |
Het |
| Zfp605 |
G |
T |
5: 110,276,564 (GRCm39) |
G561W |
probably damaging |
Het |
| Zfp69 |
T |
A |
4: 120,788,071 (GRCm39) |
|
probably null |
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 |
|
|
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'- TCGTGGCTACATGCTAAATTCC -3'
(R):5'- TGAACTCTTTTCCTATAGGTTGGCC -3'
Sequencing Primer
(F):5'- GTGGCTACATGCTAAATTCCTCTTTG -3'
(R):5'- CCTATAGGTTGGCCTGATGAATTTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation