Incidental Mutation 'IGL00482:Serpinb1c'
| ID |
277616 |
| 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: 0.157)
|
| Stock # |
IGL00482
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,338,350 (GRCm39) |
T722A |
probably damaging |
Het |
| Akr1b10 |
G |
T |
6: 34,365,837 (GRCm39) |
|
probably benign |
Het |
| Amy1 |
G |
T |
3: 113,349,781 (GRCm39) |
T463K |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,365,719 (GRCm39) |
|
probably benign |
Het |
| Arl2 |
A |
G |
19: 6,191,082 (GRCm39) |
L17P |
probably damaging |
Het |
| C2cd2 |
T |
C |
16: 97,671,420 (GRCm39) |
E493G |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,345,644 (GRCm39) |
E239G |
possibly damaging |
Het |
| Cit |
A |
G |
5: 116,076,814 (GRCm39) |
D719G |
probably damaging |
Het |
| Commd3 |
T |
C |
2: 18,678,739 (GRCm39) |
V58A |
possibly damaging |
Het |
| Cyp2c29 |
A |
C |
19: 39,313,467 (GRCm39) |
D360A |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,482,477 (GRCm39) |
Y492H |
probably benign |
Het |
| Gk |
A |
G |
X: 84,804,207 (GRCm39) |
L78P |
possibly damaging |
Het |
| Gm5884 |
A |
T |
6: 128,623,166 (GRCm39) |
|
noncoding transcript |
Het |
| Lat2 |
A |
T |
5: 134,635,630 (GRCm39) |
|
probably null |
Het |
| Lrrc4c |
C |
A |
2: 97,460,730 (GRCm39) |
S452* |
probably null |
Het |
| Ntsr2 |
T |
C |
12: 16,709,849 (GRCm39) |
C377R |
probably damaging |
Het |
| Padi3 |
A |
C |
4: 140,530,935 (GRCm39) |
M29R |
possibly damaging |
Het |
| Pcdh9 |
A |
G |
14: 93,564,130 (GRCm39) |
S1067P |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,373,959 (GRCm39) |
D1462G |
probably damaging |
Het |
| Rassf4 |
A |
G |
6: 116,622,089 (GRCm39) |
F168L |
possibly damaging |
Het |
| Siglec1 |
C |
T |
2: 130,921,245 (GRCm39) |
R642Q |
probably benign |
Het |
| Snrnp200 |
T |
G |
2: 127,072,055 (GRCm39) |
V1214G |
possibly damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,592,303 (GRCm39) |
G323S |
probably benign |
Het |
| Spidr |
A |
G |
16: 15,932,833 (GRCm39) |
V149A |
possibly damaging |
Het |
| Stat4 |
A |
T |
1: 52,113,856 (GRCm39) |
I189F |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,080,641 (GRCm39) |
Y1387C |
probably damaging |
Het |
| Tmprss9 |
G |
A |
10: 80,730,262 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Serpinb1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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