Incidental Mutation 'IGL00423:Serpina6'
ID |
4370 |
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 # |
IGL00423
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
103612889-103623471 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 103618162 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 217
(N217I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044159]
[ENSMUST00000152517]
|
AlphaFold |
Q06770 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044159
AA Change: N217I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000044033 Gene: ENSMUSG00000060807 AA Change: N217I
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,747,572 (GRCm39) |
E781G |
probably benign |
Het |
Acp7 |
T |
C |
7: 28,314,122 (GRCm39) |
T358A |
possibly damaging |
Het |
Adamtsl2 |
C |
A |
2: 26,975,100 (GRCm39) |
T199K |
probably damaging |
Het |
Ap4e1 |
T |
A |
2: 126,870,209 (GRCm39) |
S179T |
probably damaging |
Het |
BC048671 |
A |
G |
6: 90,280,200 (GRCm39) |
T39A |
probably benign |
Het |
Cfap20dc |
G |
A |
14: 8,473,370 (GRCm38) |
P600S |
possibly damaging |
Het |
Cnr1 |
G |
A |
4: 33,944,116 (GRCm39) |
S168N |
probably damaging |
Het |
Cp |
T |
C |
3: 20,039,826 (GRCm39) |
V881A |
possibly damaging |
Het |
Cyp4x1 |
T |
C |
4: 114,979,145 (GRCm39) |
T151A |
probably benign |
Het |
Drd2 |
T |
C |
9: 49,307,058 (GRCm39) |
I48T |
probably damaging |
Het |
Gemin5 |
A |
T |
11: 58,054,643 (GRCm39) |
I253N |
probably damaging |
Het |
Herc3 |
T |
A |
6: 58,845,700 (GRCm39) |
I407K |
probably damaging |
Het |
Ighmbp2 |
G |
T |
19: 3,318,704 (GRCm39) |
H457Q |
probably benign |
Het |
Mboat1 |
A |
G |
13: 30,379,776 (GRCm39) |
|
probably benign |
Het |
Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
Nucb2 |
T |
A |
7: 116,121,066 (GRCm39) |
|
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,619,923 (GRCm39) |
N383S |
probably benign |
Het |
Pde1a |
A |
G |
2: 79,696,014 (GRCm39) |
L443P |
probably damaging |
Het |
Prph2 |
A |
T |
17: 47,230,704 (GRCm39) |
N199I |
probably damaging |
Het |
Rab27b |
A |
G |
18: 70,129,138 (GRCm39) |
|
probably null |
Het |
Ranbp3 |
G |
A |
17: 57,016,238 (GRCm39) |
D336N |
probably damaging |
Het |
Rangap1 |
T |
C |
15: 81,606,194 (GRCm39) |
D49G |
probably benign |
Het |
Rasa3 |
G |
A |
8: 13,645,410 (GRCm39) |
|
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,252,743 (GRCm39) |
|
probably null |
Het |
Spire1 |
A |
G |
18: 67,662,085 (GRCm39) |
V116A |
probably damaging |
Het |
Tdrd1 |
T |
C |
19: 56,839,896 (GRCm39) |
V652A |
possibly damaging |
Het |
Tmprss11g |
T |
C |
5: 86,640,050 (GRCm39) |
E193G |
probably benign |
Het |
Zfp451 |
A |
T |
1: 33,816,660 (GRCm39) |
V213D |
probably benign |
Het |
|
Other mutations in Serpina6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00910:Serpina6
|
APN |
12 |
103,618,224 (GRCm39) |
unclassified |
probably benign |
|
IGL01512:Serpina6
|
APN |
12 |
103,620,318 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02994:Serpina6
|
APN |
12 |
103,620,210 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
2012-04-20 |