Incidental Mutation 'IGL00589:Serpinb1c'
| ID |
277818 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb1c
|
| Ensembl Gene |
ENSMUSG00000079049 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 1c |
| Synonyms |
EIC, ovalbumin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
IGL00589
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
33065417-33082194 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33067958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 213
(K213E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021834]
[ENSMUST00000221019]
|
| AlphaFold |
Q5SV42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021834
AA Change: K213E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021834
Gene: ENSMUSG00000079049
AA Change: K213E
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
375 |
1.67e-167 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221019
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot9 |
A |
T |
X: 154,078,236 (GRCm39) |
I261L |
possibly damaging |
Het |
| Adcy8 |
A |
T |
15: 64,659,216 (GRCm39) |
F525I |
probably damaging |
Het |
| Ahr |
A |
T |
12: 35,554,096 (GRCm39) |
Y674* |
probably null |
Het |
| Baz1b |
A |
G |
5: 135,225,346 (GRCm39) |
E43G |
possibly damaging |
Het |
| Ccz1 |
T |
C |
5: 143,949,713 (GRCm39) |
T72A |
probably damaging |
Het |
| Chd9 |
G |
A |
8: 91,742,474 (GRCm39) |
R1629H |
probably damaging |
Het |
| Ell3 |
A |
T |
2: 121,270,761 (GRCm39) |
D257E |
probably benign |
Het |
| Fbxw26 |
T |
C |
9: 109,547,016 (GRCm39) |
|
probably benign |
Het |
| Isg20 |
G |
A |
7: 78,566,332 (GRCm39) |
D94N |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,369,960 (GRCm39) |
S392R |
probably damaging |
Het |
| Ms4a1 |
T |
A |
19: 11,231,923 (GRCm39) |
T151S |
probably benign |
Het |
| Nphp1 |
A |
G |
2: 127,605,769 (GRCm39) |
I352T |
probably damaging |
Het |
| Or1e1 |
T |
A |
11: 73,244,869 (GRCm39) |
C97S |
probably damaging |
Het |
| Pds5a |
T |
C |
5: 65,813,687 (GRCm39) |
D266G |
probably damaging |
Het |
| Rnf103 |
T |
C |
6: 71,486,067 (GRCm39) |
Y233H |
probably benign |
Het |
| Rwdd4a |
A |
T |
8: 47,997,219 (GRCm39) |
E146V |
probably damaging |
Het |
| Slc17a5 |
T |
C |
9: 78,485,816 (GRCm39) |
I90V |
probably benign |
Het |
| Slc38a3 |
G |
A |
9: 107,535,876 (GRCm39) |
L86F |
probably damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,108,262 (GRCm39) |
T430A |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,554,362 (GRCm39) |
V1576M |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,275,635 (GRCm39) |
L806Q |
probably damaging |
Het |
|
| Other mutations in Serpinb1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00490:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00497:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00501:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00567:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00575:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00585:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00586:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00588:Serpinb1c
|
APN |
13 |
33,067,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00983:Serpinb1c
|
APN |
13 |
33,068,207 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01589:Serpinb1c
|
APN |
13 |
33,070,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03393:Serpinb1c
|
APN |
13 |
33,066,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Serpinb1c
|
UTSW |
13 |
33,070,266 (GRCm39) |
splice site |
probably benign |
|
|
R0711:Serpinb1c
|
UTSW |
13 |
33,070,266 (GRCm39) |
splice site |
probably benign |
|
|
R1222:Serpinb1c
|
UTSW |
13 |
33,080,934 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1301:Serpinb1c
|
UTSW |
13 |
33,080,943 (GRCm39) |
nonsense |
probably null |
|
|
R1570:Serpinb1c
|
UTSW |
13 |
33,080,973 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1574:Serpinb1c
|
UTSW |
13 |
33,072,979 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1574:Serpinb1c
|
UTSW |
13 |
33,072,979 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1891:Serpinb1c
|
UTSW |
13 |
33,068,235 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4932:Serpinb1c
|
UTSW |
13 |
33,066,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5831:Serpinb1c
|
UTSW |
13 |
33,081,081 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6010:Serpinb1c
|
UTSW |
13 |
33,066,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6701:Serpinb1c
|
UTSW |
13 |
33,080,924 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7522:Serpinb1c
|
UTSW |
13 |
33,066,200 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7945:Serpinb1c
|
UTSW |
13 |
33,070,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8050:Serpinb1c
|
UTSW |
13 |
33,066,052 (GRCm39) |
nonsense |
probably null |
|
|
R8155:Serpinb1c
|
UTSW |
13 |
33,081,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9045:Serpinb1c
|
UTSW |
13 |
33,066,027 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9340:Serpinb1c
|
UTSW |
13 |
33,066,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation