Incidental Mutation 'R1253:Serpinb9e'
ID |
151853 |
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 |
039320-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R1253 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
33433595-33444833 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33439102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 176
(F176S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071873]
|
AlphaFold |
O08806 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071873
AA Change: F176S
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000071769 Gene: ENSMUSG00000062342 AA Change: F176S
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
377 |
1.82e-168 |
SMART |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actg2 |
G |
A |
6: 83,499,869 (GRCm39) |
T127I |
probably damaging |
Het |
Aph1b |
T |
A |
9: 66,697,931 (GRCm39) |
K102* |
probably null |
Het |
Caskin1 |
A |
G |
17: 24,724,047 (GRCm39) |
K945R |
probably damaging |
Het |
Ccdc137 |
C |
A |
11: 120,349,005 (GRCm39) |
A12E |
probably benign |
Het |
Cdhr1 |
A |
G |
14: 36,801,582 (GRCm39) |
M787T |
probably benign |
Het |
Cic |
T |
A |
7: 24,990,373 (GRCm39) |
V1958E |
probably damaging |
Het |
Col6a6 |
T |
A |
9: 105,651,502 (GRCm39) |
I1170F |
probably null |
Het |
Cyp2c54 |
T |
A |
19: 40,034,629 (GRCm39) |
Y347F |
probably damaging |
Het |
Kntc1 |
AGTGT |
AGT |
5: 123,948,925 (GRCm39) |
|
probably null |
Het |
Large1 |
T |
C |
8: 73,775,050 (GRCm39) |
Y220C |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,351,760 (GRCm39) |
D1592E |
probably damaging |
Het |
Mtus2 |
C |
T |
5: 148,240,380 (GRCm39) |
Q76* |
probably null |
Het |
Olfm3 |
A |
T |
3: 114,916,418 (GRCm39) |
D450V |
probably damaging |
Het |
Or1l4b |
T |
A |
2: 37,036,884 (GRCm39) |
V220D |
possibly damaging |
Het |
Or4k6 |
A |
G |
14: 50,475,581 (GRCm39) |
C254R |
probably damaging |
Het |
Or5ae1 |
T |
A |
7: 84,565,917 (GRCm39) |
I310K |
probably benign |
Het |
Ormdl1 |
G |
A |
1: 53,344,681 (GRCm39) |
R81K |
possibly damaging |
Het |
Pcdhb12 |
G |
A |
18: 37,568,874 (GRCm39) |
V7I |
possibly damaging |
Het |
Ptprt |
A |
G |
2: 162,120,146 (GRCm39) |
I107T |
probably damaging |
Het |
Rbm27 |
A |
C |
18: 42,434,839 (GRCm39) |
D301A |
probably damaging |
Het |
Rexo2 |
A |
T |
9: 48,380,232 (GRCm39) |
I200N |
probably damaging |
Het |
Rtn4ip1 |
A |
T |
10: 43,786,867 (GRCm39) |
I192L |
probably benign |
Het |
Sorcs3 |
C |
A |
19: 48,195,175 (GRCm39) |
A186E |
possibly damaging |
Het |
Spata31 |
A |
G |
13: 65,069,838 (GRCm39) |
Y662C |
probably benign |
Het |
Sphkap |
G |
A |
1: 83,256,619 (GRCm39) |
P377S |
possibly damaging |
Het |
Srrt |
T |
C |
5: 137,298,598 (GRCm39) |
K222R |
probably benign |
Het |
Tas2r129 |
T |
C |
6: 132,928,999 (GRCm39) |
I312T |
probably benign |
Het |
Thbs4 |
G |
T |
13: 92,913,413 (GRCm39) |
P169Q |
probably benign |
Het |
Tmtc3 |
T |
C |
10: 100,287,252 (GRCm39) |
M515V |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn2r92 |
T |
A |
17: 18,387,028 (GRCm39) |
N122K |
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 |
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 |
|
R2974: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'- TGAGCCACAGGAGAGTGTTACCG -3'
(R):5'- CAGCACCCTACACAGGAAATGTAGTATC -3'
Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- TAGTATCTACCAAGGCTCTGAGGAC -3'
|
Posted On |
2014-01-29 |