Incidental Mutation 'IGL00588:Serpinb1c'
| ID |
277816 |
| 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 # |
IGL00588
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arrdc5 |
G |
A |
17: 56,601,262 (GRCm39) |
P288S |
probably damaging |
Het |
| Atosa |
A |
G |
9: 74,916,863 (GRCm39) |
I487M |
probably damaging |
Het |
| Cd1d1 |
T |
C |
3: 86,905,480 (GRCm39) |
D171G |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,858,917 (GRCm39) |
N530S |
probably benign |
Het |
| Csn1s1 |
A |
G |
5: 87,815,118 (GRCm39) |
I5V |
probably benign |
Het |
| Fam120b |
T |
A |
17: 15,622,857 (GRCm39) |
Y278* |
probably null |
Het |
| Fam186a |
T |
C |
15: 99,825,572 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
G |
A |
3: 85,579,925 (GRCm39) |
T760M |
probably benign |
Het |
| Gimap6 |
T |
C |
6: 48,679,355 (GRCm39) |
K227R |
possibly damaging |
Het |
| Gli3 |
A |
T |
13: 15,818,977 (GRCm39) |
T260S |
possibly damaging |
Het |
| Gm12888 |
A |
T |
4: 121,176,642 (GRCm39) |
M53K |
possibly damaging |
Het |
| Klhl9 |
C |
T |
4: 88,639,056 (GRCm39) |
S395N |
probably damaging |
Het |
| Lpp |
T |
C |
16: 24,663,938 (GRCm39) |
M280T |
probably damaging |
Het |
| Ly96 |
A |
G |
1: 16,776,452 (GRCm39) |
|
probably null |
Het |
| Mamdc2 |
T |
A |
19: 23,330,680 (GRCm39) |
T376S |
possibly damaging |
Het |
| Man2b1 |
C |
A |
8: 85,811,267 (GRCm39) |
|
probably null |
Het |
| Ndufs8 |
G |
A |
19: 3,961,740 (GRCm39) |
R3C |
probably benign |
Het |
| Prox1 |
T |
C |
1: 189,855,607 (GRCm39) |
|
probably benign |
Het |
| Prrx1 |
T |
C |
1: 163,089,536 (GRCm39) |
N97S |
probably damaging |
Het |
| Rfx3 |
G |
A |
19: 27,803,476 (GRCm39) |
Q270* |
probably null |
Het |
| Slc1a2 |
A |
G |
2: 102,586,346 (GRCm39) |
I317V |
probably benign |
Het |
| Smim15 |
T |
C |
13: 108,184,063 (GRCm39) |
L23P |
probably damaging |
Het |
| Tcea3 |
A |
T |
4: 136,001,003 (GRCm39) |
N338Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,658,071 (GRCm39) |
|
probably benign |
Het |
| Zfp61 |
T |
A |
7: 23,990,520 (GRCm39) |
I544F |
probably benign |
Het |
| Zfp954 |
C |
T |
7: 7,118,366 (GRCm39) |
A393T |
probably benign |
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 |
|
IGL00589: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