Incidental Mutation 'R1101:Serpinb9e'
ID |
98124 |
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 |
039174-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R1101 (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 T
at 33444071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 364
(T364S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071873]
|
AlphaFold |
O08806 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071873
AA Change: T364S
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000071769 Gene: ENSMUSG00000062342 AA Change: T364S
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
377 |
1.82e-168 |
SMART |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 91.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
2610021A01Rik |
C |
A |
7: 41,276,783 (GRCm39) |
H829N |
probably damaging |
Het |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
Abi3bp |
G |
T |
16: 56,426,521 (GRCm39) |
R512L |
probably damaging |
Het |
Acot2 |
T |
G |
12: 84,039,624 (GRCm39) |
S378A |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,096,205 (GRCm39) |
I2360T |
probably benign |
Het |
Bank1 |
T |
C |
3: 135,989,625 (GRCm39) |
D155G |
probably benign |
Het |
Bsn |
A |
G |
9: 107,993,610 (GRCm39) |
V714A |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,587,585 (GRCm39) |
V170I |
possibly damaging |
Het |
Clcn2 |
G |
A |
16: 20,522,345 (GRCm39) |
T787I |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,864,599 (GRCm39) |
H131R |
probably damaging |
Het |
Dct |
T |
G |
14: 118,274,034 (GRCm39) |
D291A |
probably damaging |
Het |
Dhx37 |
A |
G |
5: 125,492,216 (GRCm39) |
Y1128H |
probably damaging |
Het |
Dip2c |
A |
T |
13: 9,684,780 (GRCm39) |
I1174F |
probably damaging |
Het |
Eif3l |
A |
G |
15: 78,959,467 (GRCm39) |
Y3C |
probably damaging |
Het |
Enpp5 |
A |
G |
17: 44,392,258 (GRCm39) |
N229S |
possibly damaging |
Het |
Fam83b |
A |
T |
9: 76,452,952 (GRCm39) |
H38Q |
possibly damaging |
Het |
Fcamr |
T |
A |
1: 130,742,223 (GRCm39) |
|
probably null |
Het |
Hdac2 |
G |
A |
10: 36,867,805 (GRCm39) |
V184I |
probably damaging |
Het |
Igf2bp2 |
A |
T |
16: 21,981,700 (GRCm39) |
L5Q |
probably damaging |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Ireb2 |
T |
A |
9: 54,816,986 (GRCm39) |
H951Q |
probably benign |
Het |
Lman1 |
T |
A |
18: 66,120,969 (GRCm39) |
M418L |
probably benign |
Het |
Lrrfip2 |
C |
T |
9: 111,019,293 (GRCm39) |
R275W |
probably damaging |
Het |
Mast3 |
T |
A |
8: 71,239,307 (GRCm39) |
I424F |
probably damaging |
Het |
Mep1a |
T |
C |
17: 43,802,584 (GRCm39) |
D147G |
probably benign |
Het |
Mtr |
C |
A |
13: 12,204,411 (GRCm39) |
E1128D |
possibly damaging |
Het |
Ogfod1 |
C |
A |
8: 94,790,932 (GRCm39) |
S534R |
probably benign |
Het |
Or4c107 |
A |
T |
2: 88,789,328 (GRCm39) |
I173F |
possibly damaging |
Het |
Or4k42 |
T |
C |
2: 111,319,787 (GRCm39) |
T239A |
probably damaging |
Het |
Or5k1 |
A |
G |
16: 58,617,615 (GRCm39) |
V198A |
probably benign |
Het |
Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
Pcdh18 |
T |
A |
3: 49,707,828 (GRCm39) |
D882V |
probably damaging |
Het |
Pik3cg |
C |
T |
12: 32,245,645 (GRCm39) |
G868S |
probably null |
Het |
Plppr5 |
T |
G |
3: 117,456,172 (GRCm39) |
M231R |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,638,897 (GRCm39) |
T46A |
probably benign |
Het |
Ppp4r3a |
C |
A |
12: 101,017,830 (GRCm39) |
R440L |
probably damaging |
Het |
Sirt3 |
A |
G |
7: 140,449,541 (GRCm39) |
V135A |
possibly damaging |
Het |
Supt16 |
T |
C |
14: 52,408,896 (GRCm39) |
N826S |
probably null |
Het |
Tbr1 |
T |
C |
2: 61,635,083 (GRCm39) |
I11T |
probably benign |
Het |
Trim72 |
A |
G |
7: 127,609,419 (GRCm39) |
E407G |
possibly damaging |
Het |
Vps72 |
C |
A |
3: 95,026,487 (GRCm39) |
T144K |
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 |
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 |
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'- GTTAACAGCCTGGACCAAACCAGAG -3'
(R):5'- CTGTGGTCATCTGTCCTGGCAAAG -3'
Sequencing Primer
(F):5'- TGGAAGCAAAGCTGACTTCTC -3'
(R):5'- ATGTGGGCATCACTAGATCAG -3'
|
Posted On |
2014-01-05 |