Incidental Mutation 'R5167:Serpina12'
ID |
397361 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpina12
|
Ensembl Gene |
ENSMUSG00000041567 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 |
Synonyms |
vaspin |
MMRRC Submission |
042747-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5167 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
103995028-104010702 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104004179 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 151
(L151Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043915]
|
AlphaFold |
Q7TMF5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043915
AA Change: L151Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045572 Gene: ENSMUSG00000041567 AA Change: L151Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
SERPIN
|
57 |
411 |
1.02e-139 |
SMART |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (38/39) |
MGI Phenotype |
PHENOTYPE: Mice hmomozygous for a knock-out allele exhibit increased body weight, epididymal fat pad weight, liver weight, fat cell size, serum total and small density LDL cholesterol, serum leptin, liver triglyceride and insulin resistance when fed a high fat, high sucrose diet. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
Calm3 |
T |
C |
7: 16,651,626 (GRCm39) |
D21G |
probably damaging |
Het |
Cldn23 |
C |
T |
8: 36,293,474 (GRCm39) |
V5M |
possibly damaging |
Het |
D630003M21Rik |
A |
G |
2: 158,047,665 (GRCm39) |
S735P |
probably damaging |
Het |
Dscaml1 |
T |
C |
9: 45,628,730 (GRCm39) |
Y1095H |
probably damaging |
Het |
Esr2 |
T |
C |
12: 76,170,048 (GRCm39) |
T427A |
probably benign |
Het |
Fbxo28 |
T |
C |
1: 182,145,558 (GRCm39) |
I177V |
possibly damaging |
Het |
Fubp1 |
T |
C |
3: 151,926,989 (GRCm39) |
L372P |
possibly damaging |
Het |
Glis1 |
G |
A |
4: 107,491,891 (GRCm39) |
G585E |
probably damaging |
Het |
Gm7258 |
T |
C |
7: 128,197,791 (GRCm39) |
|
noncoding transcript |
Het |
Hecw1 |
C |
T |
13: 14,460,242 (GRCm39) |
R613Q |
probably damaging |
Het |
Kif13b |
T |
C |
14: 65,010,384 (GRCm39) |
S1228P |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,900,512 (GRCm39) |
I738V |
probably damaging |
Het |
Lig1 |
T |
A |
7: 13,044,983 (GRCm39) |
V892D |
probably damaging |
Het |
Lvrn |
T |
A |
18: 47,013,814 (GRCm39) |
Y499N |
probably damaging |
Het |
Ly9 |
C |
A |
1: 171,432,773 (GRCm39) |
W80L |
probably damaging |
Het |
Lypd5 |
T |
C |
7: 24,051,889 (GRCm39) |
V68A |
possibly damaging |
Het |
Ngdn |
C |
T |
14: 55,259,656 (GRCm39) |
Q236* |
probably null |
Het |
Nudt7 |
C |
A |
8: 114,878,567 (GRCm39) |
C154* |
probably null |
Het |
Obi1 |
A |
G |
14: 104,716,223 (GRCm39) |
S717P |
probably damaging |
Het |
Or14j10 |
C |
A |
17: 37,934,642 (GRCm39) |
E295* |
probably null |
Het |
Or4f14b |
A |
T |
2: 111,775,447 (GRCm39) |
M118K |
probably damaging |
Het |
Or5b117 |
T |
A |
19: 13,431,741 (GRCm39) |
I47F |
probably damaging |
Het |
Paxbp1 |
A |
G |
16: 90,819,555 (GRCm39) |
|
probably null |
Het |
Pcnt |
G |
T |
10: 76,256,258 (GRCm39) |
Q661K |
probably damaging |
Het |
Plekha1 |
G |
A |
7: 130,487,179 (GRCm39) |
|
probably null |
Het |
Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
Rac3 |
A |
G |
11: 120,613,421 (GRCm39) |
D58G |
probably null |
Het |
Rgl2 |
C |
T |
17: 34,154,948 (GRCm39) |
R203* |
probably null |
Het |
Ryr1 |
T |
C |
7: 28,767,118 (GRCm39) |
D2948G |
probably damaging |
Het |
Sf3a1 |
T |
C |
11: 4,127,456 (GRCm39) |
V594A |
possibly damaging |
Het |
Spdl1 |
G |
T |
11: 34,704,187 (GRCm39) |
H549N |
possibly damaging |
Het |
Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
Zfp352 |
A |
G |
4: 90,112,453 (GRCm39) |
T198A |
possibly damaging |
Het |
|
Other mutations in Serpina12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00598:Serpina12
|
APN |
12 |
103,997,373 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00976:Serpina12
|
APN |
12 |
103,998,787 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01592:Serpina12
|
APN |
12 |
104,004,381 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02355:Serpina12
|
APN |
12 |
104,004,140 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02362:Serpina12
|
APN |
12 |
104,004,140 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02648:Serpina12
|
APN |
12 |
104,004,267 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03011:Serpina12
|
APN |
12 |
103,997,397 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03156:Serpina12
|
APN |
12 |
104,004,158 (GRCm39) |
missense |
probably damaging |
1.00 |
sabina
|
UTSW |
12 |
104,004,179 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4305001:Serpina12
|
UTSW |
12 |
104,001,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R0038:Serpina12
|
UTSW |
12 |
104,004,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R0038:Serpina12
|
UTSW |
12 |
104,004,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R0448:Serpina12
|
UTSW |
12 |
104,004,354 (GRCm39) |
missense |
probably benign |
0.20 |
R0465:Serpina12
|
UTSW |
12 |
104,004,104 (GRCm39) |
missense |
probably benign |
0.04 |
R0480:Serpina12
|
UTSW |
12 |
104,001,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R0498:Serpina12
|
UTSW |
12 |
104,002,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R0503:Serpina12
|
UTSW |
12 |
103,997,418 (GRCm39) |
missense |
probably damaging |
0.97 |
R0581:Serpina12
|
UTSW |
12 |
103,997,399 (GRCm39) |
missense |
probably damaging |
0.97 |
R1393:Serpina12
|
UTSW |
12 |
104,004,009 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1847:Serpina12
|
UTSW |
12 |
103,998,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R1956:Serpina12
|
UTSW |
12 |
104,002,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R3125:Serpina12
|
UTSW |
12 |
104,004,242 (GRCm39) |
missense |
probably benign |
|
R4093:Serpina12
|
UTSW |
12 |
104,004,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R4584:Serpina12
|
UTSW |
12 |
104,004,611 (GRCm39) |
missense |
unknown |
|
R4897:Serpina12
|
UTSW |
12 |
104,004,056 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5117:Serpina12
|
UTSW |
12 |
104,004,009 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5344:Serpina12
|
UTSW |
12 |
104,001,807 (GRCm39) |
splice site |
probably null |
|
R5720:Serpina12
|
UTSW |
12 |
104,004,563 (GRCm39) |
missense |
probably benign |
0.05 |
R6011:Serpina12
|
UTSW |
12 |
104,001,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R6027:Serpina12
|
UTSW |
12 |
103,997,336 (GRCm39) |
missense |
probably benign |
0.01 |
R6170:Serpina12
|
UTSW |
12 |
104,004,500 (GRCm39) |
missense |
probably benign |
0.03 |
R7538:Serpina12
|
UTSW |
12 |
104,004,587 (GRCm39) |
missense |
unknown |
|
R7899:Serpina12
|
UTSW |
12 |
104,004,524 (GRCm39) |
missense |
probably benign |
0.01 |
R9649:Serpina12
|
UTSW |
12 |
104,004,317 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTAGCCTTACCTCGAAAG -3'
(R):5'- GCTTCAAGCTACTGCAGAGG -3'
Sequencing Primer
(F):5'- AATCATCACGGTGCCTG -3'
(R):5'- AAGCTACTGCAGAGGCTGGC -3'
|
Posted On |
2016-07-06 |