Incidental Mutation 'R4173:Serpinb9e'
ID |
318219 |
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 |
041012-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R4173 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
33433595-33444833 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33439141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 189
(N189S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071873]
|
AlphaFold |
O08806 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071873
AA Change: N189S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000071769 Gene: ENSMUSG00000062342 AA Change: N189S
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
377 |
1.82e-168 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
Cdk1 |
T |
C |
10: 69,180,991 (GRCm39) |
D73G |
probably benign |
Het |
Cspg4 |
A |
G |
9: 56,795,214 (GRCm39) |
E983G |
probably damaging |
Het |
Gnmt |
A |
G |
17: 47,037,047 (GRCm39) |
V217A |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,153,540 (GRCm39) |
E142G |
probably damaging |
Het |
Nr1h5 |
C |
T |
3: 102,859,546 (GRCm39) |
R171H |
probably damaging |
Het |
Opcml |
C |
T |
9: 28,814,654 (GRCm39) |
T302I |
probably benign |
Het |
Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
Pcdha11 |
T |
C |
18: 37,145,676 (GRCm39) |
V589A |
probably damaging |
Het |
Pigl |
T |
A |
11: 62,349,337 (GRCm39) |
F18I |
probably benign |
Het |
Pip4k2b |
T |
C |
11: 97,613,201 (GRCm39) |
K265R |
probably benign |
Het |
Rora |
C |
A |
9: 68,561,192 (GRCm39) |
T35K |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc25a45 |
C |
A |
19: 5,930,611 (GRCm39) |
Y99* |
probably null |
Het |
Smgc |
T |
C |
15: 91,744,759 (GRCm39) |
S655P |
possibly damaging |
Het |
Thbs2 |
A |
C |
17: 14,901,893 (GRCm39) |
|
probably null |
Het |
Timd2 |
T |
C |
11: 46,561,787 (GRCm39) |
T286A |
probably benign |
Het |
Trav6d-3 |
A |
G |
14: 52,962,806 (GRCm39) |
I14M |
probably benign |
Het |
Trim28 |
A |
G |
7: 12,763,805 (GRCm39) |
D622G |
probably benign |
Het |
Txnl4b |
G |
A |
8: 110,295,706 (GRCm39) |
V37I |
probably benign |
Het |
Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
Vps13c |
A |
G |
9: 67,843,595 (GRCm39) |
N1959D |
probably benign |
Het |
Xkr4 |
A |
G |
1: 3,286,711 (GRCm39) |
F493S |
probably damaging |
Het |
Xrn2 |
T |
C |
2: 146,889,612 (GRCm39) |
V665A |
probably damaging |
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 |
|
R2974:Serpinb9e
|
UTSW |
13 |
33,439,126 (GRCm39) |
missense |
probably benign |
|
R3854:Serpinb9e
|
UTSW |
13 |
33,439,137 (GRCm39) |
missense |
probably benign |
0.40 |
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'- ATGCATATGGTACCTGAATGACGTC -3'
(R):5'- GCTTTTAGAAAGACAAATCTCAGCGG -3'
Sequencing Primer
(F):5'- GAATGACGTCTGTTTTCTCCAAAGG -3'
(R):5'- GTGCTTTCCTTCCTTCCTTTCG -3'
|
Posted On |
2015-06-10 |