Incidental Mutation 'R5720:Serpina12'
| ID |
451421 |
| 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 |
043188-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5720 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
103995028-104010702 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104004563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 23
(D23G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043915]
|
| AlphaFold |
Q7TMF5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043915
AA Change: D23G
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000045572
Gene: ENSMUSG00000041567
AA Change: D23G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
SERPIN
|
57 |
411 |
1.02e-139 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10l |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
4: 140,308,930 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,228,802 (GRCm39) |
T1125A |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,233,171 (GRCm39) |
N1165K |
probably benign |
Het |
| Ctf1 |
A |
T |
7: 127,316,174 (GRCm39) |
|
probably null |
Het |
| Defb26 |
T |
C |
2: 152,350,122 (GRCm39) |
N53D |
possibly damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,907,825 (GRCm39) |
T787A |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,552,979 (GRCm39) |
L96P |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gpr65 |
A |
T |
12: 98,241,361 (GRCm39) |
S5C |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Itga8 |
G |
A |
2: 12,115,898 (GRCm39) |
S76L |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,205,931 (GRCm39) |
F1810Y |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,306,038 (GRCm39) |
L126P |
probably damaging |
Het |
| Or4a77 |
T |
C |
2: 89,487,299 (GRCm39) |
Y162C |
probably benign |
Het |
| Primpol |
A |
G |
8: 47,034,677 (GRCm39) |
V417A |
probably damaging |
Het |
| Pus1 |
C |
T |
5: 110,925,584 (GRCm39) |
E79K |
probably damaging |
Het |
| Rspo2 |
C |
T |
15: 43,033,210 (GRCm39) |
C4Y |
probably benign |
Het |
| Serpind1 |
A |
T |
16: 17,157,696 (GRCm39) |
R297S |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc17a6 |
C |
T |
7: 51,275,145 (GRCm39) |
P68L |
probably damaging |
Het |
| Slc6a5 |
C |
T |
7: 49,606,264 (GRCm39) |
P724L |
possibly damaging |
Het |
| Spaca7 |
A |
G |
8: 12,649,004 (GRCm39) |
E166G |
possibly damaging |
Het |
| Supt5 |
A |
G |
7: 28,021,993 (GRCm39) |
S345P |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 76,014,441 (GRCm39) |
D3211N |
probably benign |
Het |
| Tmem132e |
G |
A |
11: 82,333,276 (GRCm39) |
|
probably null |
Het |
| Trappc14 |
A |
G |
5: 138,261,964 (GRCm39) |
V44A |
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,013,587 (GRCm39) |
S536P |
probably benign |
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 |
|
R5167:Serpina12
|
UTSW |
12 |
104,004,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5344:Serpina12
|
UTSW |
12 |
104,001,807 (GRCm39) |
splice site |
probably null |
|
|
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'- TTGAAGTTGAAGCCCTCCC -3'
(R):5'- TCCCATGGGTCTTCCTGATG -3'
Sequencing Primer
(F):5'- AGTTGAAGCCCTCCCGGATTTC -3'
(R):5'- CCATGGGTCTTCCTGATGGCTAAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation