Incidental Mutation 'R4057:Serpina3m'
ID |
314299 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpina3m
|
Ensembl Gene |
ENSMUSG00000079012 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3M |
Synonyms |
Spi2.4, MMSPi2.4, Spi2-rs1, MMCM7, contrapsin-like, alpha-1 antiproteinase, Spi-2l, antitrypsin, Spi-2rs1, 3e46 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R4057 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
104353424-104360518 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to C
at 104357996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130979
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101078]
[ENSMUST00000168797]
|
AlphaFold |
Q03734 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000101078
|
SMART Domains |
Protein: ENSMUSP00000098639 Gene: ENSMUSG00000079012
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
SERPIN
|
56 |
417 |
3.12e-199 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168797
|
SMART Domains |
Protein: ENSMUSP00000130979 Gene: ENSMUSG00000079012
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
SERPIN
|
56 |
417 |
3.12e-199 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
95% (36/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
A |
G |
17: 36,270,807 (GRCm39) |
I510T |
possibly damaging |
Het |
Asb2 |
A |
G |
12: 103,291,653 (GRCm39) |
Y377H |
probably benign |
Het |
Cars1 |
T |
C |
7: 143,124,385 (GRCm39) |
E347G |
probably damaging |
Het |
Cfap91 |
A |
G |
16: 38,118,576 (GRCm39) |
V741A |
probably benign |
Het |
Cplane1 |
T |
A |
15: 8,248,509 (GRCm39) |
M1686K |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dst |
T |
C |
1: 34,225,135 (GRCm39) |
|
probably benign |
Het |
Emcn |
C |
A |
3: 137,085,660 (GRCm39) |
T86K |
probably damaging |
Het |
Fcgbp |
A |
T |
7: 27,803,541 (GRCm39) |
Q1715L |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,290,250 (GRCm39) |
Y2361C |
probably damaging |
Het |
Hpse2 |
T |
C |
19: 43,282,714 (GRCm39) |
K180E |
probably damaging |
Het |
Ints2 |
A |
C |
11: 86,133,778 (GRCm39) |
L424R |
probably damaging |
Het |
Kalrn |
A |
T |
16: 34,134,579 (GRCm39) |
I401N |
probably damaging |
Het |
Ltbp1 |
G |
T |
17: 75,617,189 (GRCm39) |
G725C |
probably damaging |
Het |
Myo3a |
T |
A |
2: 22,270,971 (GRCm39) |
M144K |
probably benign |
Het |
Nav3 |
A |
T |
10: 109,716,394 (GRCm39) |
|
probably null |
Het |
Neb |
A |
T |
2: 52,096,711 (GRCm39) |
V5000D |
possibly damaging |
Het |
Neb |
G |
T |
2: 52,127,120 (GRCm39) |
A3534E |
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,270,071 (GRCm39) |
C833S |
probably benign |
Het |
Npas1 |
C |
A |
7: 16,208,712 (GRCm39) |
R55L |
probably damaging |
Het |
Or52n20 |
A |
G |
7: 104,320,476 (GRCm39) |
K189R |
probably damaging |
Het |
P2ry10 |
T |
C |
X: 106,146,862 (GRCm39) |
C266R |
probably damaging |
Het |
Pcdh1 |
T |
C |
18: 38,331,950 (GRCm39) |
E351G |
probably damaging |
Het |
Plce1 |
A |
T |
19: 38,748,563 (GRCm39) |
R1751W |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,309,150 (GRCm39) |
|
probably null |
Het |
Por |
A |
G |
5: 135,760,428 (GRCm39) |
Y245C |
probably damaging |
Het |
Ptprm |
A |
C |
17: 67,382,658 (GRCm39) |
I158S |
possibly damaging |
Het |
Rsf1 |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
T |
C |
7: 110,040,673 (GRCm39) |
I385V |
probably damaging |
Het |
Sox5 |
G |
T |
6: 144,062,248 (GRCm39) |
R135S |
probably damaging |
Het |
Stag2 |
A |
G |
X: 41,313,819 (GRCm39) |
T228A |
probably damaging |
Het |
Wif1 |
G |
A |
10: 120,918,099 (GRCm39) |
V156I |
probably benign |
Het |
Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
|
Other mutations in Serpina3m |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
FR4976:Serpina3m
|
UTSW |
12 |
104,324,882 (GRCm39) |
splice site |
probably null |
|
R1797:Serpina3m
|
UTSW |
12 |
104,355,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R1929:Serpina3m
|
UTSW |
12 |
104,355,581 (GRCm39) |
missense |
probably damaging |
0.97 |
R1991:Serpina3m
|
UTSW |
12 |
104,355,958 (GRCm39) |
nonsense |
probably null |
|
R2032:Serpina3m
|
UTSW |
12 |
104,355,928 (GRCm39) |
missense |
probably benign |
0.00 |
R2094:Serpina3m
|
UTSW |
12 |
104,355,529 (GRCm39) |
missense |
probably benign |
0.35 |
R2103:Serpina3m
|
UTSW |
12 |
104,355,958 (GRCm39) |
nonsense |
probably null |
|
R2121:Serpina3m
|
UTSW |
12 |
104,355,941 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2147:Serpina3m
|
UTSW |
12 |
104,355,483 (GRCm39) |
missense |
probably benign |
0.01 |
R2241:Serpina3m
|
UTSW |
12 |
104,355,708 (GRCm39) |
missense |
probably benign |
0.01 |
R2330:Serpina3m
|
UTSW |
12 |
104,357,963 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4275:Serpina3m
|
UTSW |
12 |
104,355,375 (GRCm39) |
missense |
probably damaging |
0.99 |
R4466:Serpina3m
|
UTSW |
12 |
104,357,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R4901:Serpina3m
|
UTSW |
12 |
104,355,908 (GRCm39) |
nonsense |
probably null |
|
R4924:Serpina3m
|
UTSW |
12 |
104,357,729 (GRCm39) |
missense |
probably benign |
0.00 |
R4964:Serpina3m
|
UTSW |
12 |
104,355,360 (GRCm39) |
missense |
probably benign |
0.43 |
R5723:Serpina3m
|
UTSW |
12 |
104,360,170 (GRCm39) |
missense |
probably damaging |
0.96 |
R5836:Serpina3m
|
UTSW |
12 |
104,355,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R6172:Serpina3m
|
UTSW |
12 |
104,355,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R6619:Serpina3m
|
UTSW |
12 |
104,357,766 (GRCm39) |
missense |
probably benign |
0.02 |
R6857:Serpina3m
|
UTSW |
12 |
104,355,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R6886:Serpina3m
|
UTSW |
12 |
104,355,386 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7063:Serpina3m
|
UTSW |
12 |
104,357,726 (GRCm39) |
missense |
probably benign |
0.00 |
R7170:Serpina3m
|
UTSW |
12 |
104,355,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R7622:Serpina3m
|
UTSW |
12 |
104,355,834 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8222:Serpina3m
|
UTSW |
12 |
104,358,960 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8771:Serpina3m
|
UTSW |
12 |
104,357,841 (GRCm39) |
missense |
probably damaging |
0.98 |
R8853:Serpina3m
|
UTSW |
12 |
104,355,914 (GRCm39) |
missense |
probably benign |
|
R8913:Serpina3m
|
UTSW |
12 |
104,355,477 (GRCm39) |
missense |
probably benign |
0.32 |
R9641:Serpina3m
|
UTSW |
12 |
104,360,085 (GRCm39) |
nonsense |
probably null |
|
R9709:Serpina3m
|
UTSW |
12 |
104,359,008 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Serpina3m
|
UTSW |
12 |
104,355,711 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAGTTTCTGACCACACGC -3'
(R):5'- AACCACAGCTCCTTGTTCTAGC -3'
Sequencing Primer
(F):5'- ACGCCACTTCCGTGATGAG -3'
(R):5'- TAGCTGATCCCATCTTGTGAACAAC -3'
|
Posted On |
2015-04-30 |