Incidental Mutation 'IGL02994:Serpina6'
| ID |
407063 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpina6
|
| Ensembl Gene |
ENSMUSG00000060807 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 6 |
| Synonyms |
Cbg |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL02994
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
103612889-103623471 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103620210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 180
(S180P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044159]
[ENSMUST00000152517]
|
| AlphaFold |
Q06770 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044159
AA Change: S180P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000044033
Gene: ENSMUSG00000060807
AA Change: S180P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SERPIN
|
43 |
396 |
3.45e-160 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152517
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein that belongs to the serpin (serine protease inhibitor) family. The encoded protein is an alpha-globulin with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors. [provided by RefSeq, Sep 2015]
PHENOTYPE: Null homozygotes exhibit reduced total plasma corticosterone, increased susceptibility to bacterial infection, attenuation of the stress-induced surge in free corticosterone, and enhanced behavioral response to intense or uncontrollable stress. They exhibit no locomotor sensitization to cocaine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
T |
A |
9: 104,186,602 (GRCm39) |
|
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,749,827 (GRCm39) |
V137A |
probably damaging |
Het |
| Alk |
G |
T |
17: 72,256,815 (GRCm39) |
F681L |
probably benign |
Het |
| Ankrd35 |
T |
C |
3: 96,590,307 (GRCm39) |
|
probably benign |
Het |
| Aqp3 |
A |
T |
4: 41,093,614 (GRCm39) |
C267S |
probably benign |
Het |
| Arl13b |
T |
A |
16: 62,632,366 (GRCm39) |
I76F |
probably damaging |
Het |
| Ccn2 |
T |
A |
10: 24,472,763 (GRCm39) |
N224K |
probably damaging |
Het |
| Cdc42bpa |
G |
T |
1: 179,827,002 (GRCm39) |
R85L |
probably damaging |
Het |
| Dock4 |
T |
G |
12: 40,829,159 (GRCm39) |
I1015R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,268,333 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
C |
11: 16,861,811 (GRCm39) |
Y1197H |
probably damaging |
Het |
| Endod1 |
A |
G |
9: 14,268,183 (GRCm39) |
V434A |
possibly damaging |
Het |
| Exosc9 |
A |
G |
3: 36,607,287 (GRCm39) |
|
probably benign |
Het |
| Fgg |
G |
T |
3: 82,915,781 (GRCm39) |
R74L |
probably benign |
Het |
| Fmo2 |
A |
T |
1: 162,708,189 (GRCm39) |
D315E |
probably damaging |
Het |
| H2-M3 |
G |
A |
17: 37,581,629 (GRCm39) |
S97N |
probably benign |
Het |
| Ighv14-2 |
T |
A |
12: 113,958,211 (GRCm39) |
T77S |
probably benign |
Het |
| Klhl9 |
A |
T |
4: 88,639,434 (GRCm39) |
L269* |
probably null |
Het |
| Lin37 |
G |
A |
7: 30,256,585 (GRCm39) |
R84W |
probably damaging |
Het |
| Macroh2a1 |
T |
C |
13: 56,252,112 (GRCm39) |
|
probably benign |
Het |
| Mkln1 |
T |
C |
6: 31,467,378 (GRCm39) |
S31P |
probably damaging |
Het |
| Nacad |
A |
G |
11: 6,549,528 (GRCm39) |
L1221P |
possibly damaging |
Het |
| Nbr1 |
A |
T |
11: 101,447,053 (GRCm39) |
N13I |
probably damaging |
Het |
| Ndfip1 |
T |
C |
18: 38,585,469 (GRCm39) |
I161T |
probably damaging |
Het |
| Nsg1 |
A |
G |
5: 38,312,946 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
G |
T |
5: 21,113,232 (GRCm39) |
T430K |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,249,106 (GRCm39) |
L570P |
probably damaging |
Het |
| Tank |
A |
G |
2: 61,480,636 (GRCm39) |
|
probably benign |
Het |
| Tpd52 |
A |
G |
3: 9,012,590 (GRCm39) |
F76L |
probably benign |
Het |
| Ubox5 |
A |
C |
2: 130,442,237 (GRCm39) |
L150R |
probably benign |
Het |
| Zfp710 |
T |
C |
7: 79,731,581 (GRCm39) |
S253P |
probably benign |
Het |
|
| Other mutations in Serpina6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Serpina6
|
APN |
12 |
103,618,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00910:Serpina6
|
APN |
12 |
103,618,224 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01512:Serpina6
|
APN |
12 |
103,620,318 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03092:Serpina6
|
APN |
12 |
103,620,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03351:Serpina6
|
APN |
12 |
103,613,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0178:Serpina6
|
UTSW |
12 |
103,613,172 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0362:Serpina6
|
UTSW |
12 |
103,618,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0530:Serpina6
|
UTSW |
12 |
103,618,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1542:Serpina6
|
UTSW |
12 |
103,620,732 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1573:Serpina6
|
UTSW |
12 |
103,618,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1764:Serpina6
|
UTSW |
12 |
103,620,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2243:Serpina6
|
UTSW |
12 |
103,613,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2309:Serpina6
|
UTSW |
12 |
103,620,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2363:Serpina6
|
UTSW |
12 |
103,614,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3691:Serpina6
|
UTSW |
12 |
103,620,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4492:Serpina6
|
UTSW |
12 |
103,613,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4498:Serpina6
|
UTSW |
12 |
103,620,326 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4953:Serpina6
|
UTSW |
12 |
103,618,221 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4985:Serpina6
|
UTSW |
12 |
103,620,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5022:Serpina6
|
UTSW |
12 |
103,617,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Serpina6
|
UTSW |
12 |
103,618,157 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5318:Serpina6
|
UTSW |
12 |
103,620,221 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5350:Serpina6
|
UTSW |
12 |
103,614,838 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5569:Serpina6
|
UTSW |
12 |
103,620,719 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5664:Serpina6
|
UTSW |
12 |
103,620,726 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5882:Serpina6
|
UTSW |
12 |
103,620,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6275:Serpina6
|
UTSW |
12 |
103,614,979 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6364:Serpina6
|
UTSW |
12 |
103,620,495 (GRCm39) |
missense |
probably benign |
|
|
R7173:Serpina6
|
UTSW |
12 |
103,613,253 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7181:Serpina6
|
UTSW |
12 |
103,613,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7725:Serpina6
|
UTSW |
12 |
103,614,936 (GRCm39) |
nonsense |
probably null |
|
|
R7811:Serpina6
|
UTSW |
12 |
103,620,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Serpina6
|
UTSW |
12 |
103,613,187 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8770:Serpina6
|
UTSW |
12 |
103,620,198 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8998:Serpina6
|
UTSW |
12 |
103,617,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8999:Serpina6
|
UTSW |
12 |
103,617,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation