Incidental Mutation 'R2974:Serpinb9e'
ID |
255327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpinb9e
|
Ensembl Gene |
ENSMUSG00000062342 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9e |
Synonyms |
NK26, ovalbumin, Spi14 |
MMRRC Submission |
040527-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R2974 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
33433595-33444833 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 33439126 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 184
(V184E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071873]
|
AlphaFold |
O08806 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071873
AA Change: V184E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000071769 Gene: ENSMUSG00000062342 AA Change: V184E
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
377 |
1.82e-168 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
97% (38/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
Cop1 |
A |
G |
1: 159,152,499 (GRCm39) |
H583R |
possibly damaging |
Het |
Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
Ctu1 |
A |
G |
7: 43,325,074 (GRCm39) |
|
probably benign |
Het |
D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
Depdc5 |
T |
C |
5: 33,091,361 (GRCm39) |
|
probably null |
Het |
Dnah14 |
A |
T |
1: 181,582,806 (GRCm39) |
|
probably null |
Het |
Dpp10 |
A |
G |
1: 123,339,434 (GRCm39) |
|
probably benign |
Het |
Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
Gse1 |
C |
A |
8: 121,297,636 (GRCm39) |
|
probably benign |
Het |
Med15 |
T |
C |
16: 17,470,575 (GRCm39) |
Y744C |
probably damaging |
Het |
Nlrp4d |
A |
G |
7: 10,112,367 (GRCm39) |
|
probably benign |
Het |
Nyap2 |
C |
T |
1: 81,169,485 (GRCm39) |
R81* |
probably null |
Het |
Or4p21 |
A |
T |
2: 88,276,918 (GRCm39) |
C121* |
probably null |
Het |
Or8g30 |
T |
C |
9: 39,230,292 (GRCm39) |
N206S |
probably damaging |
Het |
Phax |
T |
A |
18: 56,706,134 (GRCm39) |
M8K |
probably benign |
Het |
Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,558,957 (GRCm39) |
T476S |
probably damaging |
Het |
Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
Rxrg |
G |
A |
1: 167,466,715 (GRCm39) |
R422H |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,698,274 (GRCm39) |
D397G |
probably damaging |
Het |
Slc25a27 |
T |
C |
17: 43,964,262 (GRCm39) |
N203D |
probably damaging |
Het |
Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
Tnip1 |
C |
T |
11: 54,824,809 (GRCm39) |
|
probably benign |
Het |
Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
Trpv5 |
T |
C |
6: 41,630,165 (GRCm39) |
S642G |
possibly damaging |
Het |
Ube2d2a |
T |
A |
18: 35,933,225 (GRCm39) |
D87E |
possibly damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
Vmn2r77 |
T |
C |
7: 86,452,893 (GRCm39) |
Y537H |
probably benign |
Het |
|
Other mutations in Serpinb9e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01619:Serpinb9e
|
APN |
13 |
33,439,108 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02352:Serpinb9e
|
APN |
13 |
33,441,803 (GRCm39) |
splice site |
probably benign |
|
IGL02359:Serpinb9e
|
APN |
13 |
33,441,803 (GRCm39) |
splice site |
probably benign |
|
IGL02604:Serpinb9e
|
APN |
13 |
33,441,742 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02859:Serpinb9e
|
APN |
13 |
33,435,633 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0257:Serpinb9e
|
UTSW |
13 |
33,441,664 (GRCm39) |
missense |
probably benign |
0.24 |
R0751:Serpinb9e
|
UTSW |
13 |
33,443,757 (GRCm39) |
missense |
probably benign |
0.00 |
R1101:Serpinb9e
|
UTSW |
13 |
33,444,071 (GRCm39) |
missense |
probably benign |
0.10 |
R1170:Serpinb9e
|
UTSW |
13 |
33,441,735 (GRCm39) |
nonsense |
probably null |
|
R1184:Serpinb9e
|
UTSW |
13 |
33,443,757 (GRCm39) |
missense |
probably benign |
0.00 |
R1253:Serpinb9e
|
UTSW |
13 |
33,439,102 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1405:Serpinb9e
|
UTSW |
13 |
33,444,009 (GRCm39) |
missense |
probably benign |
|
R1405:Serpinb9e
|
UTSW |
13 |
33,444,009 (GRCm39) |
missense |
probably benign |
|
R1463:Serpinb9e
|
UTSW |
13 |
33,439,099 (GRCm39) |
missense |
probably benign |
|
R1566:Serpinb9e
|
UTSW |
13 |
33,437,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R1924:Serpinb9e
|
UTSW |
13 |
33,437,428 (GRCm39) |
missense |
probably benign |
0.07 |
R1964:Serpinb9e
|
UTSW |
13 |
33,437,474 (GRCm39) |
missense |
probably benign |
0.04 |
R2153:Serpinb9e
|
UTSW |
13 |
33,436,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R2405:Serpinb9e
|
UTSW |
13 |
33,444,063 (GRCm39) |
missense |
probably benign |
|
R2972:Serpinb9e
|
UTSW |
13 |
33,439,126 (GRCm39) |
missense |
probably benign |
|
R2973:Serpinb9e
|
UTSW |
13 |
33,439,126 (GRCm39) |
missense |
probably benign |
|
R3854:Serpinb9e
|
UTSW |
13 |
33,439,137 (GRCm39) |
missense |
probably benign |
0.40 |
R4173:Serpinb9e
|
UTSW |
13 |
33,439,141 (GRCm39) |
missense |
probably damaging |
0.97 |
R4937:Serpinb9e
|
UTSW |
13 |
33,436,935 (GRCm39) |
missense |
probably benign |
0.11 |
R4949:Serpinb9e
|
UTSW |
13 |
33,435,591 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5347:Serpinb9e
|
UTSW |
13 |
33,441,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R5976:Serpinb9e
|
UTSW |
13 |
33,439,112 (GRCm39) |
missense |
probably benign |
|
R5979:Serpinb9e
|
UTSW |
13 |
33,439,036 (GRCm39) |
missense |
probably benign |
0.18 |
R5991:Serpinb9e
|
UTSW |
13 |
33,443,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R6059:Serpinb9e
|
UTSW |
13 |
33,441,757 (GRCm39) |
missense |
probably benign |
0.29 |
R6884:Serpinb9e
|
UTSW |
13 |
33,435,609 (GRCm39) |
missense |
probably benign |
0.33 |
R8007:Serpinb9e
|
UTSW |
13 |
33,435,605 (GRCm39) |
missense |
probably benign |
0.27 |
R8504:Serpinb9e
|
UTSW |
13 |
33,439,092 (GRCm39) |
missense |
probably benign |
|
R9802:Serpinb9e
|
UTSW |
13 |
33,439,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACACATTATGCATATGGTACCTG -3'
(R):5'- CTTTTAGAAAGACAAATCTCAGCGG -3'
Sequencing Primer
(F):5'- GCATATGGTACCTGAATGACGTC -3'
(R):5'- GTGCTTTCCTTCCTTCCTTTCG -3'
|
Posted On |
2014-12-29 |