Incidental Mutation 'IGL03351:Serpina6'
| ID |
419713 |
| 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 # |
IGL03351
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
103612889-103623471 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103613172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 376
(I376N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044159]
|
| AlphaFold |
Q06770 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044159
AA Change: I376N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044033
Gene: ENSMUSG00000060807
AA Change: I376N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SERPIN
|
43 |
396 |
3.45e-160 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185363
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,561,427 (GRCm39) |
D251E |
probably benign |
Het |
| 5730460C07Rik |
C |
T |
3: 153,495,595 (GRCm39) |
|
noncoding transcript |
Het |
| Coch |
G |
A |
12: 51,649,989 (GRCm39) |
R326Q |
probably benign |
Het |
| Cpa3 |
A |
G |
3: 20,270,126 (GRCm39) |
V366A |
probably benign |
Het |
| Csf1r |
C |
T |
18: 61,250,180 (GRCm39) |
Q382* |
probably null |
Het |
| Csta1 |
C |
A |
16: 35,951,411 (GRCm39) |
G4* |
probably null |
Het |
| Cts7 |
T |
C |
13: 61,504,417 (GRCm39) |
R49G |
probably damaging |
Het |
| Dlg5 |
A |
G |
14: 24,220,522 (GRCm39) |
V575A |
probably benign |
Het |
| Ero1a |
G |
T |
14: 45,531,990 (GRCm39) |
N227K |
probably benign |
Het |
| Faap24 |
G |
T |
7: 35,094,734 (GRCm39) |
C58* |
probably null |
Het |
| Hfm1 |
G |
A |
5: 107,059,441 (GRCm39) |
Q194* |
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,709,319 (GRCm39) |
Y285N |
probably damaging |
Het |
| Hyal6 |
G |
A |
6: 24,743,428 (GRCm39) |
G375R |
probably damaging |
Het |
| Itgb5 |
T |
C |
16: 33,730,922 (GRCm39) |
S93P |
probably benign |
Het |
| Kcnj6 |
A |
T |
16: 94,633,442 (GRCm39) |
M205K |
probably damaging |
Het |
| Kdm6a |
C |
T |
X: 18,113,343 (GRCm39) |
Q92* |
probably null |
Het |
| Klhl38 |
A |
G |
15: 58,186,726 (GRCm39) |
M1T |
probably null |
Het |
| Krtap7-1 |
T |
C |
16: 89,304,884 (GRCm39) |
|
probably benign |
Het |
| L1cam |
T |
C |
X: 72,906,634 (GRCm39) |
T270A |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,598,015 (GRCm39) |
N45S |
probably benign |
Het |
| Magea13 |
G |
A |
X: 57,964,297 (GRCm39) |
V19I |
probably benign |
Het |
| Mmp2 |
A |
G |
8: 93,565,970 (GRCm39) |
I424V |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,194,739 (GRCm39) |
Q1650R |
possibly damaging |
Het |
| Naalad2 |
T |
A |
9: 18,275,483 (GRCm39) |
E313V |
possibly damaging |
Het |
| Nipsnap3a |
A |
G |
4: 52,994,134 (GRCm39) |
T74A |
probably benign |
Het |
| Npr2 |
G |
T |
4: 43,640,652 (GRCm39) |
M368I |
probably benign |
Het |
| Nup58 |
T |
C |
14: 60,466,224 (GRCm39) |
T445A |
probably benign |
Het |
| Or14a256 |
A |
G |
7: 86,264,885 (GRCm39) |
Y323H |
possibly damaging |
Het |
| Or52r1b |
A |
G |
7: 102,691,337 (GRCm39) |
D212G |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,662,606 (GRCm39) |
T73A |
probably benign |
Het |
| Pole |
A |
G |
5: 110,449,864 (GRCm39) |
|
probably benign |
Het |
| Ppp2r3d |
C |
T |
9: 101,088,391 (GRCm39) |
G644D |
probably benign |
Het |
| Pramel23 |
G |
A |
4: 143,423,658 (GRCm39) |
T377I |
possibly damaging |
Het |
| Ptprb |
T |
C |
10: 116,175,487 (GRCm39) |
Y1161H |
probably benign |
Het |
| Ptprs |
T |
A |
17: 56,744,943 (GRCm39) |
K264N |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,020,311 (GRCm39) |
|
probably benign |
Het |
| Setx |
T |
G |
2: 29,051,811 (GRCm39) |
I2062M |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,363,531 (GRCm39) |
D99G |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,401 (GRCm39) |
|
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,451,154 (GRCm39) |
Y309H |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,024,595 (GRCm39) |
D1178G |
probably damaging |
Het |
| Trav5-1 |
G |
A |
14: 52,860,302 (GRCm39) |
E36K |
probably damaging |
Het |
| Vmn1r237 |
T |
C |
17: 21,535,099 (GRCm39) |
V274A |
probably benign |
Het |
| Vmn1r29 |
A |
T |
6: 58,284,735 (GRCm39) |
S152C |
probably damaging |
Het |
| Washc5 |
C |
A |
15: 59,235,199 (GRCm39) |
|
probably benign |
Het |
| Zfp369 |
T |
G |
13: 65,443,967 (GRCm39) |
L370R |
possibly damaging |
Het |
| Zfp750 |
T |
C |
11: 121,404,173 (GRCm39) |
Y234C |
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 |
|
IGL03092:Serpina6
|
APN |
12 |
103,620,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
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