Incidental Mutation 'R4949:Serpinb9e'
| ID |
383679 |
| 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 |
042546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R4949 (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 33435591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 8
(N8S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071873]
|
| AlphaFold |
O08806 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071873
AA Change: N8S
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000071769
Gene: ENSMUSG00000062342
AA Change: N8S
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
377 |
1.82e-168 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,769,450 (GRCm39) |
V692A |
probably benign |
Het |
| Bcl2l13 |
G |
T |
6: 120,864,191 (GRCm39) |
G382W |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,557 (GRCm39) |
N353I |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,113,408 (GRCm39) |
S170P |
possibly damaging |
Het |
| Clp1 |
A |
C |
2: 84,554,086 (GRCm39) |
M361R |
possibly damaging |
Het |
| Cylc2 |
A |
G |
4: 51,229,804 (GRCm39) |
K382R |
unknown |
Het |
| Dsg2 |
T |
A |
18: 20,723,241 (GRCm39) |
D422E |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Gm14295 |
A |
C |
2: 176,501,469 (GRCm39) |
T320P |
probably damaging |
Het |
| Ido2 |
T |
G |
8: 25,023,970 (GRCm39) |
|
probably null |
Het |
| Ift140 |
T |
A |
17: 25,313,639 (GRCm39) |
S1357T |
probably benign |
Het |
| Insr |
T |
G |
8: 3,235,059 (GRCm39) |
E145A |
probably benign |
Het |
| Itpripl1 |
A |
G |
2: 126,983,327 (GRCm39) |
M265T |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,947,521 (GRCm39) |
N442K |
probably damaging |
Het |
| Kifc5b |
C |
A |
17: 27,144,488 (GRCm39) |
R536S |
probably damaging |
Het |
| Klf6 |
A |
T |
13: 5,914,947 (GRCm39) |
S129C |
probably benign |
Het |
| Lpin2 |
C |
G |
17: 71,538,334 (GRCm39) |
P327A |
probably damaging |
Het |
| Lsm1 |
T |
C |
8: 26,292,065 (GRCm39) |
V114A |
probably benign |
Het |
| Map7d1 |
C |
T |
4: 126,128,846 (GRCm39) |
W218* |
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,979,142 (GRCm39) |
|
probably null |
Het |
| Nt5el |
T |
A |
13: 105,246,214 (GRCm39) |
S258R |
probably damaging |
Het |
| Rheb |
A |
T |
5: 25,008,729 (GRCm39) |
I163K |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,101,897 (GRCm39) |
D113G |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,927,663 (GRCm39) |
N1381D |
probably damaging |
Het |
| Sdsl |
T |
A |
5: 120,597,870 (GRCm39) |
N208Y |
possibly damaging |
Het |
| Sox18 |
G |
A |
2: 181,313,017 (GRCm39) |
Q100* |
probably null |
Het |
| Taar8b |
C |
T |
10: 23,967,825 (GRCm39) |
C123Y |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tes |
C |
A |
6: 17,100,359 (GRCm39) |
H331N |
probably benign |
Het |
| Tmbim1 |
T |
G |
1: 74,334,524 (GRCm39) |
D12A |
probably damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,086,841 (GRCm39) |
I307V |
possibly damaging |
Het |
| Ttll1 |
A |
T |
15: 83,386,374 (GRCm39) |
M77K |
probably null |
Het |
| Ttpal |
G |
A |
2: 163,455,671 (GRCm39) |
R220Q |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,625 (GRCm39) |
H271Q |
probably benign |
Het |
| Vmn2r32 |
A |
G |
7: 7,467,083 (GRCm39) |
I815T |
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 |
|
|
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 |
|
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'- CACAGAAGCTAGTTTGTGTTCCTG -3'
(R):5'- GGGTATGGTTTCACAGGGAAC -3'
Sequencing Primer
(F):5'- AGTTTGTGTTCCTGCTATGATCAAC -3'
(R):5'- GGGAACTTACCTGACATATCTGGAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation