Incidental Mutation 'IGL01482:Serpinb6d'
ID |
88638 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpinb6d
|
Ensembl Gene |
ENSMUSG00000047889 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 6d |
Synonyms |
SPI3D, Gm11390 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
IGL01482
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
33845388-33855564 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33855346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 340
(V340A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152621
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059637]
[ENSMUST00000221681]
|
AlphaFold |
Q3UWK8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059637
AA Change: V340A
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000063025 Gene: ENSMUSG00000047889 AA Change: V340A
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
375 |
1.67e-144 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221681
AA Change: V340A
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene is a member of the large Serpin gene family. Many members of this family act as protease inhibitors, and have a conserved structure including a reactive center loop (RCL) that can act as a bait for protease targets. Unlike some members of this large gene family, the protein encoded by this gene is an intracellular protein, and lacks an N-terminal signal peptide sequence. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jul 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
A |
T |
1: 120,099,201 (GRCm39) |
D98V |
probably benign |
Het |
Aatf |
G |
A |
11: 84,361,536 (GRCm39) |
R356C |
possibly damaging |
Het |
Abca15 |
A |
T |
7: 119,981,969 (GRCm39) |
T1095S |
probably benign |
Het |
Abca9 |
A |
G |
11: 110,011,599 (GRCm39) |
F1148S |
probably benign |
Het |
Adam12 |
G |
T |
7: 133,569,577 (GRCm39) |
D299E |
probably damaging |
Het |
Alyref |
A |
T |
11: 120,486,762 (GRCm39) |
N166K |
possibly damaging |
Het |
Atxn1 |
A |
T |
13: 45,710,790 (GRCm39) |
I714N |
probably benign |
Het |
Bves |
A |
G |
10: 45,230,902 (GRCm39) |
E291G |
possibly damaging |
Het |
Chrm2 |
A |
G |
6: 36,500,692 (GRCm39) |
N183S |
possibly damaging |
Het |
Dennd2a |
T |
C |
6: 39,457,243 (GRCm39) |
H733R |
probably damaging |
Het |
Erbb3 |
C |
T |
10: 128,408,798 (GRCm39) |
G762S |
possibly damaging |
Het |
Gm29326 |
A |
C |
7: 29,260,136 (GRCm39) |
|
noncoding transcript |
Het |
Itgb2l |
A |
T |
16: 96,239,948 (GRCm39) |
L17Q |
probably damaging |
Het |
Jade1 |
T |
A |
3: 41,567,937 (GRCm39) |
D668E |
probably benign |
Het |
Ksr1 |
G |
A |
11: 78,927,409 (GRCm39) |
T308I |
probably damaging |
Het |
Mfap4 |
A |
G |
11: 61,378,583 (GRCm39) |
D177G |
probably damaging |
Het |
Mmut |
C |
T |
17: 41,267,162 (GRCm39) |
R579C |
probably damaging |
Het |
Muc2 |
A |
T |
7: 141,307,797 (GRCm39) |
I369F |
probably damaging |
Het |
Myh13 |
A |
T |
11: 67,242,894 (GRCm39) |
M936L |
probably benign |
Het |
Nckap5 |
G |
T |
1: 125,950,897 (GRCm39) |
S1598Y |
probably damaging |
Het |
Nlrp10 |
T |
A |
7: 108,526,159 (GRCm39) |
M60L |
probably benign |
Het |
Nlrp12 |
T |
C |
7: 3,283,790 (GRCm39) |
N739S |
possibly damaging |
Het |
Or5p58 |
A |
C |
7: 107,694,693 (GRCm39) |
V28G |
probably benign |
Het |
Pappa |
A |
T |
4: 65,074,271 (GRCm39) |
H275L |
probably benign |
Het |
Plekhm2 |
A |
G |
4: 141,357,340 (GRCm39) |
S711P |
probably damaging |
Het |
Ptpn1 |
G |
A |
2: 167,809,712 (GRCm39) |
V107M |
probably damaging |
Het |
Ptprf |
G |
A |
4: 118,069,651 (GRCm39) |
R1498C |
probably damaging |
Het |
Rhobtb2 |
A |
G |
14: 70,034,037 (GRCm39) |
I396T |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,751,762 (GRCm39) |
F3668S |
probably damaging |
Het |
Silc1 |
T |
A |
12: 27,191,893 (GRCm39) |
|
noncoding transcript |
Het |
Spaca3 |
G |
T |
11: 80,758,510 (GRCm39) |
V158L |
probably benign |
Het |
Tdp1 |
A |
G |
12: 99,857,639 (GRCm39) |
N66S |
probably benign |
Het |
Tmem132d |
A |
T |
5: 128,346,270 (GRCm39) |
I84N |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,295,057 (GRCm39) |
D523V |
probably damaging |
Het |
Usp17la |
A |
T |
7: 104,508,600 (GRCm39) |
M1L |
probably benign |
Het |
Yeats2 |
C |
T |
16: 20,041,671 (GRCm39) |
T1202I |
probably damaging |
Het |
|
Other mutations in Serpinb6d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01611:Serpinb6d
|
APN |
13 |
33,850,375 (GRCm39) |
nonsense |
probably null |
|
IGL01946:Serpinb6d
|
APN |
13 |
33,855,369 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02672:Serpinb6d
|
APN |
13 |
33,855,372 (GRCm39) |
missense |
probably benign |
0.36 |
R0041:Serpinb6d
|
UTSW |
13 |
33,851,615 (GRCm39) |
missense |
probably damaging |
0.98 |
R0041:Serpinb6d
|
UTSW |
13 |
33,851,615 (GRCm39) |
missense |
probably damaging |
0.98 |
R1112:Serpinb6d
|
UTSW |
13 |
33,853,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R1159:Serpinb6d
|
UTSW |
13 |
33,855,212 (GRCm39) |
missense |
probably damaging |
0.98 |
R1447:Serpinb6d
|
UTSW |
13 |
33,854,739 (GRCm39) |
missense |
probably benign |
0.42 |
R1608:Serpinb6d
|
UTSW |
13 |
33,853,112 (GRCm39) |
missense |
probably benign |
|
R1843:Serpinb6d
|
UTSW |
13 |
33,855,364 (GRCm39) |
missense |
probably benign |
|
R1945:Serpinb6d
|
UTSW |
13 |
33,851,663 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2168:Serpinb6d
|
UTSW |
13 |
33,850,357 (GRCm39) |
missense |
probably benign |
0.08 |
R2275:Serpinb6d
|
UTSW |
13 |
33,855,411 (GRCm39) |
missense |
probably benign |
0.00 |
R3737:Serpinb6d
|
UTSW |
13 |
33,851,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R3738:Serpinb6d
|
UTSW |
13 |
33,851,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R3739:Serpinb6d
|
UTSW |
13 |
33,851,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R3780:Serpinb6d
|
UTSW |
13 |
33,848,097 (GRCm39) |
missense |
probably benign |
|
R3782:Serpinb6d
|
UTSW |
13 |
33,848,097 (GRCm39) |
missense |
probably benign |
|
R4002:Serpinb6d
|
UTSW |
13 |
33,854,630 (GRCm39) |
missense |
probably damaging |
0.98 |
R4685:Serpinb6d
|
UTSW |
13 |
33,855,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R4707:Serpinb6d
|
UTSW |
13 |
33,855,336 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4761:Serpinb6d
|
UTSW |
13 |
33,855,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R4859:Serpinb6d
|
UTSW |
13 |
33,851,547 (GRCm39) |
splice site |
probably null |
|
R4884:Serpinb6d
|
UTSW |
13 |
33,850,428 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4951:Serpinb6d
|
UTSW |
13 |
33,850,366 (GRCm39) |
missense |
probably benign |
0.03 |
R5010:Serpinb6d
|
UTSW |
13 |
33,855,427 (GRCm39) |
missense |
probably benign |
0.15 |
R5081:Serpinb6d
|
UTSW |
13 |
33,855,230 (GRCm39) |
missense |
probably benign |
0.32 |
R6726:Serpinb6d
|
UTSW |
13 |
33,854,718 (GRCm39) |
missense |
probably benign |
0.01 |
R6960:Serpinb6d
|
UTSW |
13 |
33,855,181 (GRCm39) |
missense |
probably benign |
0.08 |
R7214:Serpinb6d
|
UTSW |
13 |
33,848,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R7732:Serpinb6d
|
UTSW |
13 |
33,853,082 (GRCm39) |
missense |
probably benign |
0.14 |
R8128:Serpinb6d
|
UTSW |
13 |
33,850,383 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8197:Serpinb6d
|
UTSW |
13 |
33,851,588 (GRCm39) |
missense |
probably damaging |
0.98 |
R8471:Serpinb6d
|
UTSW |
13 |
33,848,137 (GRCm39) |
missense |
probably damaging |
0.99 |
R9026:Serpinb6d
|
UTSW |
13 |
33,851,656 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9080:Serpinb6d
|
UTSW |
13 |
33,855,107 (GRCm39) |
missense |
probably benign |
|
R9253:Serpinb6d
|
UTSW |
13 |
33,855,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R9562:Serpinb6d
|
UTSW |
13 |
33,854,756 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Serpinb6d
|
UTSW |
13 |
33,855,237 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Posted On |
2013-11-18 |