Incidental Mutation 'R4492:Serpina6'
ID |
330798 |
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 |
041581-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R4492 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
103612889-103623471 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103613146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 385
(W385R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044159]
|
AlphaFold |
Q06770 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044159
AA Change: W385R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044033 Gene: ENSMUSG00000060807 AA Change: W385R
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr6 |
T |
G |
10: 89,561,676 (GRCm39) |
I157L |
probably benign |
Het |
Amph |
T |
C |
13: 19,333,928 (GRCm39) |
V663A |
possibly damaging |
Het |
Anapc16 |
A |
G |
10: 59,826,724 (GRCm39) |
S50P |
possibly damaging |
Het |
Ank3 |
T |
A |
10: 69,644,755 (GRCm39) |
V60D |
probably damaging |
Het |
Btbd9 |
A |
G |
17: 30,746,545 (GRCm39) |
Y94H |
probably damaging |
Het |
Chil3 |
A |
G |
3: 106,063,017 (GRCm39) |
I191T |
probably damaging |
Het |
Clpb |
T |
C |
7: 101,436,929 (GRCm39) |
L668P |
probably damaging |
Het |
Cyp2d22 |
G |
A |
15: 82,258,571 (GRCm39) |
H97Y |
probably benign |
Het |
Dhrs7 |
A |
T |
12: 72,699,899 (GRCm39) |
N244K |
probably damaging |
Het |
Dusp4 |
C |
T |
8: 35,274,890 (GRCm39) |
T3M |
possibly damaging |
Het |
Edc4 |
GGATTTTAGCCA |
G |
8: 106,611,700 (GRCm39) |
|
probably null |
Het |
Etl4 |
G |
A |
2: 20,811,676 (GRCm39) |
S1621N |
possibly damaging |
Het |
Fam174a |
T |
C |
1: 95,241,701 (GRCm39) |
S54P |
probably benign |
Het |
Fdxacb1 |
T |
C |
9: 50,681,547 (GRCm39) |
F7S |
probably damaging |
Het |
Focad |
G |
A |
4: 88,278,142 (GRCm39) |
|
probably null |
Het |
Gpr156 |
T |
A |
16: 37,812,468 (GRCm39) |
L268H |
probably damaging |
Het |
Gpr17 |
A |
T |
18: 32,080,304 (GRCm39) |
I253N |
possibly damaging |
Het |
H2-T23 |
A |
T |
17: 36,343,058 (GRCm39) |
N106K |
probably damaging |
Het |
Hspa4 |
T |
C |
11: 53,171,296 (GRCm39) |
R303G |
probably damaging |
Het |
Irgm1 |
G |
A |
11: 48,756,955 (GRCm39) |
|
silent |
Het |
Jph1 |
A |
C |
1: 17,067,770 (GRCm39) |
I114S |
probably damaging |
Het |
Kcna1 |
C |
T |
6: 126,619,238 (GRCm39) |
D361N |
possibly damaging |
Het |
Kcna4 |
G |
A |
2: 107,126,436 (GRCm39) |
R390Q |
probably damaging |
Het |
Lum |
C |
A |
10: 97,404,300 (GRCm39) |
P65H |
probably damaging |
Het |
Mc4r |
A |
G |
18: 66,992,711 (GRCm39) |
L134P |
probably benign |
Het |
Mroh8 |
A |
T |
2: 157,099,960 (GRCm39) |
I248N |
probably damaging |
Het |
Nos2 |
A |
G |
11: 78,840,921 (GRCm39) |
T677A |
probably benign |
Het |
Nup37 |
T |
A |
10: 88,010,791 (GRCm39) |
F257I |
possibly damaging |
Het |
Or13c3 |
T |
C |
4: 52,855,764 (GRCm39) |
I250V |
probably benign |
Het |
Or6k6 |
C |
T |
1: 173,944,770 (GRCm39) |
V271I |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,385,723 (GRCm39) |
D1016N |
possibly damaging |
Het |
Pdzd2 |
A |
C |
15: 12,419,567 (GRCm39) |
M501R |
possibly damaging |
Het |
Pitx1 |
T |
C |
13: 55,976,465 (GRCm39) |
K65E |
probably benign |
Het |
Pla1a |
C |
T |
16: 38,229,972 (GRCm39) |
A247T |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
Prss8 |
A |
G |
7: 127,528,979 (GRCm39) |
S26P |
probably damaging |
Het |
Rasef |
A |
C |
4: 73,652,740 (GRCm39) |
L587R |
probably damaging |
Het |
Rock2 |
T |
A |
12: 17,027,684 (GRCm39) |
C1334S |
probably damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Slc12a5 |
T |
C |
2: 164,821,263 (GRCm39) |
M249T |
probably benign |
Het |
Srsf9 |
T |
A |
5: 115,470,651 (GRCm39) |
I117N |
probably damaging |
Het |
Taf1 |
G |
T |
X: 100,586,665 (GRCm39) |
M313I |
possibly damaging |
Het |
Tmem30a |
T |
C |
9: 79,684,567 (GRCm39) |
H95R |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,770,346 (GRCm39) |
V139A |
probably benign |
Het |
Zfp236 |
A |
T |
18: 82,648,125 (GRCm39) |
V1012D |
probably damaging |
Het |
Zfp612 |
C |
A |
8: 110,815,929 (GRCm39) |
Q379K |
probably damaging |
Het |
Zfp930 |
C |
T |
8: 69,680,898 (GRCm39) |
Q198* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTAGCAACAAGGCCTATTCATTAC -3'
(R):5'- AGATGTGAGCAGCTCCTGTC -3'
Sequencing Primer
(F):5'- CAAGGCCTATTCATTACAAGATGTC -3'
(R):5'- GACAGGGATTTATCTCCTGCC -3'
|
Posted On |
2015-07-21 |