Incidental Mutation 'R8418:Serpina6'
ID |
653060 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpina6
|
Ensembl Gene |
ENSMUSG00000060807 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 6 |
Synonyms |
Cbg |
MMRRC Submission |
067897-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R8418 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
103612889-103623471 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103613187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 371
(Y371C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044159]
|
AlphaFold |
Q06770 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044159
AA Change: Y371C
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044033 Gene: ENSMUSG00000060807 AA Change: Y371C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
SERPIN
|
43 |
396 |
3.45e-160 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
98% (48/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf2 |
T |
C |
17: 43,021,477 (GRCm39) |
H449R |
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,698,468 (GRCm39) |
V646A |
probably benign |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Ccdc62 |
C |
T |
5: 124,084,455 (GRCm39) |
R279* |
probably null |
Het |
Cimip2b |
A |
G |
4: 43,427,204 (GRCm39) |
L76P |
unknown |
Het |
Col6a5 |
G |
T |
9: 105,755,821 (GRCm39) |
P2201Q |
probably damaging |
Het |
Cpa3 |
T |
C |
3: 20,276,315 (GRCm39) |
Y306C |
probably damaging |
Het |
Cpne9 |
A |
G |
6: 113,260,398 (GRCm39) |
N82D |
possibly damaging |
Het |
Dcaf17 |
T |
A |
2: 70,918,717 (GRCm39) |
D430E |
probably damaging |
Het |
Dcst2 |
T |
C |
3: 89,278,901 (GRCm39) |
V546A |
probably benign |
Het |
Dennd1a |
T |
C |
2: 37,748,403 (GRCm39) |
T359A |
probably benign |
Het |
Dgkb |
C |
A |
12: 38,380,016 (GRCm39) |
H591N |
probably damaging |
Het |
Dnah17 |
G |
A |
11: 117,994,284 (GRCm39) |
S1047F |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,609,795 (GRCm39) |
I215T |
probably benign |
Het |
Efcab12 |
A |
G |
6: 115,799,076 (GRCm39) |
|
probably null |
Het |
Erich3 |
C |
T |
3: 154,415,378 (GRCm39) |
R165C |
|
Het |
Gabrr1 |
C |
T |
4: 33,162,615 (GRCm39) |
R394* |
probably null |
Het |
Garnl3 |
G |
T |
2: 32,942,158 (GRCm39) |
Q153K |
possibly damaging |
Het |
Gars1 |
A |
G |
6: 55,042,446 (GRCm39) |
N393S |
probably damaging |
Het |
Gbp2b |
A |
T |
3: 142,309,466 (GRCm39) |
E192D |
probably benign |
Het |
Gm28360 |
A |
T |
1: 117,781,357 (GRCm39) |
H116L |
probably benign |
Het |
Gm9602 |
T |
A |
14: 15,935,348 (GRCm39) |
|
probably benign |
Het |
Gp1bb |
T |
A |
16: 18,440,103 (GRCm39) |
H5L |
unknown |
Het |
Grik3 |
A |
G |
4: 125,579,835 (GRCm39) |
K527E |
possibly damaging |
Het |
Hhip |
T |
C |
8: 80,771,714 (GRCm39) |
M199V |
probably damaging |
Het |
Irgm1 |
A |
G |
11: 48,757,166 (GRCm39) |
V231A |
probably damaging |
Het |
Itgal |
A |
T |
7: 126,929,454 (GRCm39) |
I1124F |
probably benign |
Het |
Kash5 |
A |
G |
7: 44,843,501 (GRCm39) |
L241P |
probably damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Miga1 |
T |
G |
3: 151,990,954 (GRCm39) |
Y433S |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,430,926 (GRCm39) |
I8062K |
possibly damaging |
Het |
Ntsr2 |
T |
G |
12: 16,706,662 (GRCm39) |
V230G |
possibly damaging |
Het |
Or52ab2 |
A |
G |
7: 102,970,278 (GRCm39) |
Y220C |
|
Het |
Ptpn2 |
G |
A |
18: 67,814,592 (GRCm39) |
T139M |
probably damaging |
Het |
Pum2 |
T |
A |
12: 8,760,245 (GRCm39) |
D145E |
possibly damaging |
Het |
Radil |
T |
C |
5: 142,480,676 (GRCm39) |
E593G |
probably benign |
Het |
Rdh14 |
T |
C |
12: 10,444,580 (GRCm39) |
F144L |
probably damaging |
Het |
Sec23ip |
T |
G |
7: 128,380,187 (GRCm39) |
D867E |
probably damaging |
Het |
Snx13 |
T |
A |
12: 35,148,233 (GRCm39) |
I254N |
probably damaging |
Het |
Tacc1 |
T |
C |
8: 25,731,532 (GRCm39) |
K7E |
probably damaging |
Het |
Thoc2l |
C |
A |
5: 104,667,724 (GRCm39) |
Q749K |
possibly damaging |
Het |
Timeless |
A |
C |
10: 128,086,605 (GRCm39) |
N1048T |
probably benign |
Het |
Tll2 |
C |
A |
19: 41,081,276 (GRCm39) |
E732D |
probably damaging |
Het |
Tmem171 |
A |
G |
13: 98,828,740 (GRCm39) |
S137P |
probably damaging |
Het |
Ttll3 |
A |
T |
6: 113,371,734 (GRCm39) |
M44L |
probably benign |
Het |
Vmn2r29 |
T |
A |
7: 7,244,939 (GRCm39) |
I312L |
probably benign |
Het |
Vmn2r43 |
A |
T |
7: 8,258,583 (GRCm39) |
L210* |
probably null |
Het |
Vmn2r60 |
A |
G |
7: 41,844,850 (GRCm39) |
I738V |
probably damaging |
Het |
Zfp977 |
T |
A |
7: 42,229,410 (GRCm39) |
M372L |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGAGTAGCAACAAGGCCTATTC -3'
(R):5'- ATGTGAGCAGCTCCTGTCTC -3'
Sequencing Primer
(F):5'- GAGTAGCAACAAGGCCTATTCATTAC -3'
(R):5'- CCTGACAGGGATTTATCTCCTG -3'
|
Posted On |
2020-10-20 |