Incidental Mutation 'IGL03092:Serpina6'
ID |
418430 |
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 # |
IGL03092
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
103612889-103623471 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 103620154 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044159]
[ENSMUST00000152517]
|
AlphaFold |
Q06770 |
Predicted Effect |
probably null
Transcript: ENSMUST00000044159
|
SMART Domains |
Protein: ENSMUSP00000044033 Gene: ENSMUSG00000060807
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
G |
3: 124,200,119 (GRCm39) |
L491P |
probably damaging |
Het |
Abcc6 |
T |
A |
7: 45,635,894 (GRCm39) |
D1051V |
probably damaging |
Het |
Actmap |
T |
C |
7: 26,900,561 (GRCm39) |
M180T |
probably damaging |
Het |
Aqr |
T |
A |
2: 113,989,424 (GRCm39) |
E133V |
probably benign |
Het |
Bag6 |
A |
G |
17: 35,364,603 (GRCm39) |
N911D |
probably damaging |
Het |
Cdcp3 |
G |
T |
7: 130,803,527 (GRCm39) |
|
probably null |
Het |
Ces4a |
C |
T |
8: 105,874,836 (GRCm39) |
|
probably benign |
Het |
Clec3b |
A |
T |
9: 122,980,100 (GRCm39) |
|
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,496,243 (GRCm39) |
|
probably benign |
Het |
Ctsg |
T |
A |
14: 56,337,417 (GRCm39) |
*262L |
probably null |
Het |
Cyp17a1 |
T |
A |
19: 46,661,050 (GRCm39) |
H78L |
possibly damaging |
Het |
Dcaf13 |
C |
A |
15: 38,991,371 (GRCm39) |
|
probably benign |
Het |
Dcun1d1 |
G |
T |
3: 35,975,141 (GRCm39) |
Q52K |
possibly damaging |
Het |
Ddb1 |
C |
T |
19: 10,590,309 (GRCm39) |
R279W |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,366,945 (GRCm39) |
|
probably benign |
Het |
Dsel |
A |
G |
1: 111,787,793 (GRCm39) |
L914P |
probably damaging |
Het |
Fbxo31 |
A |
G |
8: 122,286,757 (GRCm39) |
F174L |
probably benign |
Het |
Gm9116 |
A |
G |
3: 93,817,513 (GRCm39) |
|
noncoding transcript |
Het |
Gspt1 |
C |
T |
16: 11,056,763 (GRCm39) |
V211I |
probably benign |
Het |
Hmgb1 |
A |
T |
5: 148,987,508 (GRCm39) |
S14T |
probably benign |
Het |
Igsf8 |
A |
G |
1: 172,140,096 (GRCm39) |
|
probably benign |
Het |
Klf13 |
A |
G |
7: 63,541,417 (GRCm39) |
F237L |
probably damaging |
Het |
Mon2 |
A |
T |
10: 122,854,005 (GRCm39) |
I962N |
probably damaging |
Het |
Nfx1 |
A |
G |
4: 41,024,851 (GRCm39) |
D1108G |
probably damaging |
Het |
Nr2e1 |
T |
C |
10: 42,447,478 (GRCm39) |
Y178C |
probably damaging |
Het |
Or4d10c |
C |
A |
19: 12,065,230 (GRCm39) |
E309* |
probably null |
Het |
Or52d1 |
A |
T |
7: 103,755,854 (GRCm39) |
I123F |
probably damaging |
Het |
Pde3b |
A |
T |
7: 114,122,583 (GRCm39) |
H717L |
probably damaging |
Het |
Polr1b |
T |
C |
2: 128,965,049 (GRCm39) |
Y712H |
probably damaging |
Het |
Pramel16 |
C |
A |
4: 143,676,767 (GRCm39) |
K112N |
probably damaging |
Het |
Rnf157 |
T |
A |
11: 116,238,795 (GRCm39) |
|
probably null |
Het |
Ros1 |
T |
C |
10: 51,974,902 (GRCm39) |
E1561G |
probably damaging |
Het |
St18 |
A |
G |
1: 6,839,118 (GRCm39) |
|
probably benign |
Het |
Ugp2 |
A |
G |
11: 21,279,722 (GRCm39) |
|
probably benign |
Het |
Vmn1r70 |
T |
C |
7: 10,368,186 (GRCm39) |
S225P |
probably benign |
Het |
Zfp641 |
T |
C |
15: 98,188,397 (GRCm39) |
D161G |
probably damaging |
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 |
IGL02994:Serpina6
|
APN |
12 |
103,620,210 (GRCm39) |
missense |
probably benign |
0.03 |
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 |