Incidental Mutation 'IGL01589:Serpinb1c'
ID |
91535 |
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 # |
IGL01589
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
33065417-33082194 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 33070155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 136
(V136F)
|
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: V136F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021834 Gene: ENSMUSG00000079049 AA Change: V136F
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
375 |
1.67e-167 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126501
AA Change: V136F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117305 Gene: ENSMUSG00000079049 AA Change: V136F
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
201 |
3.7e-10 |
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 |
Abca9 |
A |
G |
11: 110,046,003 (GRCm39) |
F307S |
probably damaging |
Het |
Abcc6 |
A |
T |
7: 45,652,096 (GRCm39) |
|
probably benign |
Het |
Adamts12 |
T |
A |
15: 11,311,323 (GRCm39) |
D1193E |
probably benign |
Het |
Akap6 |
T |
A |
12: 53,186,447 (GRCm39) |
L1287H |
probably damaging |
Het |
Ascl3 |
A |
G |
7: 109,327,245 (GRCm39) |
S25P |
probably benign |
Het |
Brd2 |
A |
G |
17: 34,336,016 (GRCm39) |
S66P |
probably damaging |
Het |
Cacna1i |
C |
A |
15: 80,271,960 (GRCm39) |
|
probably benign |
Het |
Cdc5l |
T |
C |
17: 45,715,602 (GRCm39) |
Y670C |
probably damaging |
Het |
Clybl |
T |
A |
14: 122,608,834 (GRCm39) |
I142N |
probably damaging |
Het |
Cyp2c66 |
T |
C |
19: 39,172,379 (GRCm39) |
|
probably null |
Het |
Dck |
C |
T |
5: 88,922,095 (GRCm39) |
|
probably benign |
Het |
Dsg1b |
T |
C |
18: 20,542,651 (GRCm39) |
Y1053H |
probably damaging |
Het |
Gm9912 |
T |
C |
3: 148,890,986 (GRCm39) |
D49G |
unknown |
Het |
Gpr107 |
T |
C |
2: 31,057,163 (GRCm39) |
|
probably benign |
Het |
Hsd3b7 |
T |
C |
7: 127,402,036 (GRCm39) |
F227S |
probably damaging |
Het |
Lrrtm2 |
T |
A |
18: 35,345,851 (GRCm39) |
N484Y |
probably damaging |
Het |
Muc19 |
A |
T |
15: 91,754,699 (GRCm39) |
|
noncoding transcript |
Het |
Nodal |
G |
A |
10: 61,254,176 (GRCm39) |
R33Q |
probably benign |
Het |
Or1a1 |
T |
C |
11: 74,086,587 (GRCm39) |
L86P |
probably damaging |
Het |
Plcb4 |
A |
G |
2: 135,809,038 (GRCm39) |
I569V |
probably benign |
Het |
Plekhg1 |
T |
C |
10: 3,913,631 (GRCm39) |
Y1118H |
probably benign |
Het |
Polr2a |
T |
G |
11: 69,632,020 (GRCm39) |
E1015D |
probably benign |
Het |
Recql5 |
A |
G |
11: 115,785,495 (GRCm39) |
F667S |
probably damaging |
Het |
Scube1 |
T |
C |
15: 83,496,754 (GRCm39) |
Y749C |
probably damaging |
Het |
Slain2 |
T |
C |
5: 73,098,789 (GRCm39) |
|
probably benign |
Het |
Slc10a7 |
T |
C |
8: 79,456,369 (GRCm39) |
S296P |
probably damaging |
Het |
Sspo |
C |
T |
6: 48,428,112 (GRCm39) |
R320W |
probably damaging |
Het |
Usp16 |
G |
A |
16: 87,276,071 (GRCm39) |
A469T |
probably benign |
Het |
Vmn2r102 |
A |
T |
17: 19,899,066 (GRCm39) |
L469F |
probably benign |
Het |
Zfp772 |
A |
G |
7: 7,208,523 (GRCm39) |
F107S |
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 |
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 |
2013-12-09 |