Incidental Mutation 'IGL00490:Serpinb1c'
ID |
277648 |
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 # |
IGL00490
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
A |
G |
4: 129,905,665 (GRCm39) |
E837G |
possibly damaging |
Het |
Atp13a3 |
A |
G |
16: 30,171,172 (GRCm39) |
M291T |
probably benign |
Het |
Coq8b |
C |
A |
7: 26,956,902 (GRCm39) |
H518Q |
probably benign |
Het |
Crebrf |
A |
G |
17: 26,962,067 (GRCm39) |
D388G |
probably damaging |
Het |
Cyp2d10 |
A |
T |
15: 82,287,515 (GRCm39) |
S244T |
possibly damaging |
Het |
Ddr2 |
A |
T |
1: 169,832,763 (GRCm39) |
L99H |
probably damaging |
Het |
Dennd1a |
G |
T |
2: 37,691,164 (GRCm39) |
D251E |
probably damaging |
Het |
Fam210a |
G |
T |
18: 68,401,983 (GRCm39) |
T210N |
probably damaging |
Het |
Gigyf2 |
C |
A |
1: 87,364,572 (GRCm39) |
Q951K |
probably damaging |
Het |
Gramd1b |
T |
A |
9: 40,221,337 (GRCm39) |
I280F |
probably damaging |
Het |
Gsdmc3 |
T |
A |
15: 63,731,526 (GRCm39) |
K335N |
probably benign |
Het |
Loxhd1 |
A |
T |
18: 77,518,770 (GRCm39) |
T993S |
possibly damaging |
Het |
Mfsd6 |
A |
G |
1: 52,747,413 (GRCm39) |
L484P |
probably damaging |
Het |
Myt1l |
T |
A |
12: 29,877,423 (GRCm39) |
V358E |
unknown |
Het |
Mzt1 |
A |
G |
14: 99,278,106 (GRCm39) |
|
probably benign |
Het |
Nrxn2 |
C |
A |
19: 6,523,623 (GRCm39) |
H514Q |
possibly damaging |
Het |
Nup214 |
G |
A |
2: 31,923,991 (GRCm39) |
E2K |
probably damaging |
Het |
Pcdhb4 |
G |
T |
18: 37,442,969 (GRCm39) |
G760W |
possibly damaging |
Het |
Ptger2 |
T |
C |
14: 45,239,198 (GRCm39) |
|
probably benign |
Het |
Smcr8 |
T |
A |
11: 60,669,458 (GRCm39) |
|
probably null |
Het |
Spef2 |
A |
T |
15: 9,740,621 (GRCm39) |
D46E |
probably damaging |
Het |
Tbc1d32 |
G |
A |
10: 56,031,861 (GRCm39) |
P689L |
probably damaging |
Het |
Tep1 |
C |
A |
14: 51,070,930 (GRCm39) |
W2123L |
probably damaging |
Het |
Thg1l |
T |
C |
11: 45,845,048 (GRCm39) |
E8G |
probably benign |
Het |
Tmem236 |
A |
G |
2: 14,224,189 (GRCm39) |
Y326C |
probably damaging |
Het |
Trip4 |
C |
T |
9: 65,740,692 (GRCm39) |
G573R |
probably damaging |
Het |
Trrap |
C |
T |
5: 144,762,035 (GRCm39) |
T2320I |
probably benign |
Het |
Tsnaxip1 |
A |
G |
8: 106,568,816 (GRCm39) |
N435S |
probably damaging |
Het |
Ube3a |
A |
G |
7: 58,921,858 (GRCm39) |
N77D |
probably damaging |
Het |
Uvrag |
A |
T |
7: 98,628,948 (GRCm39) |
I373N |
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 |
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 |