Incidental Mutation 'IGL03393:Serpinb1c'
ID |
421138 |
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 # |
IGL03393
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
33065417-33082194 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 33066044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 300
(D300E)
|
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: D300E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000021834 Gene: ENSMUSG00000079049 AA Change: D300E
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
G |
10: 86,909,902 (GRCm39) |
|
probably benign |
Het |
Adamts5 |
G |
T |
16: 85,665,083 (GRCm39) |
S627Y |
probably damaging |
Het |
Allc |
G |
A |
12: 28,610,010 (GRCm39) |
R196C |
probably damaging |
Het |
Ccdc65 |
A |
C |
15: 98,618,568 (GRCm39) |
E241A |
probably benign |
Het |
Dclk3 |
T |
C |
9: 111,317,741 (GRCm39) |
|
probably benign |
Het |
Fzd4 |
T |
C |
7: 89,056,505 (GRCm39) |
V184A |
probably benign |
Het |
Gfap |
T |
A |
11: 102,784,083 (GRCm39) |
|
probably null |
Het |
Gpr149 |
A |
G |
3: 62,511,366 (GRCm39) |
V211A |
probably benign |
Het |
Gprc6a |
A |
G |
10: 51,491,355 (GRCm39) |
I623T |
probably damaging |
Het |
Gucy2c |
T |
C |
6: 136,696,665 (GRCm39) |
T687A |
probably benign |
Het |
Kcnc4 |
T |
G |
3: 107,355,243 (GRCm39) |
M402L |
possibly damaging |
Het |
Ktn1 |
T |
C |
14: 47,928,391 (GRCm39) |
L584S |
probably damaging |
Het |
Mrgprb2 |
C |
T |
7: 48,202,650 (GRCm39) |
S25N |
probably benign |
Het |
Muc5b |
T |
A |
7: 141,417,875 (GRCm39) |
V3607E |
probably benign |
Het |
Or4c58 |
C |
A |
2: 89,674,913 (GRCm39) |
V135L |
probably benign |
Het |
Or6c3b |
T |
C |
10: 129,527,147 (GRCm39) |
I254M |
probably damaging |
Het |
Otx2 |
A |
G |
14: 48,898,781 (GRCm39) |
I75T |
probably damaging |
Het |
Pabpc4l |
T |
C |
3: 46,400,972 (GRCm39) |
D224G |
probably damaging |
Het |
Peg3 |
A |
T |
7: 6,710,648 (GRCm39) |
C1525S |
probably damaging |
Het |
Polq |
A |
T |
16: 36,865,156 (GRCm39) |
L669F |
probably damaging |
Het |
Prss40 |
A |
C |
1: 34,597,182 (GRCm39) |
V122G |
probably damaging |
Het |
Rims2 |
A |
G |
15: 39,326,009 (GRCm39) |
|
probably null |
Het |
Rrp12 |
A |
T |
19: 41,860,232 (GRCm39) |
M997K |
possibly damaging |
Het |
Sbno2 |
G |
A |
10: 79,902,735 (GRCm39) |
R414W |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,148,362 (GRCm39) |
D41G |
probably benign |
Het |
Timeless |
G |
A |
10: 128,087,924 (GRCm39) |
D1165N |
probably damaging |
Het |
Tnpo1 |
T |
G |
13: 99,024,981 (GRCm39) |
K66N |
probably damaging |
Het |
Trappc11 |
A |
T |
8: 47,963,912 (GRCm39) |
N629K |
possibly damaging |
Het |
Ubr4 |
T |
A |
4: 139,179,989 (GRCm39) |
L255M |
probably damaging |
Het |
Vmn1r10 |
T |
A |
6: 57,091,042 (GRCm39) |
Y211* |
probably null |
Het |
Vmn2r76 |
T |
G |
7: 85,879,034 (GRCm39) |
N422T |
probably benign |
Het |
Xylt1 |
C |
A |
7: 117,192,940 (GRCm39) |
N415K |
probably damaging |
Het |
Zfp786 |
A |
T |
6: 47,798,458 (GRCm39) |
V160E |
possibly 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 |
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 |
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 |
2016-08-02 |