Incidental Mutation 'R6570:Serpine3'
| ID |
526216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpine3
|
| Ensembl Gene |
ENSMUSG00000091155 |
| Gene Name |
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 |
| Synonyms |
E130113E03Rik |
| MMRRC Submission |
044694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6570 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
62901116-62929692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62911770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 244
(L244Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053959]
[ENSMUST00000171692]
|
| AlphaFold |
E9Q6A2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053959
|
| SMART Domains |
Protein: ENSMUSP00000086788
Gene: ENSMUSG00000035161
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
1 |
158 |
4.11e-1 |
SMART |
|
Blast:VWA
|
307 |
331 |
1e-7 |
BLAST |
|
Blast:RRM_2
|
701 |
727 |
3e-8 |
BLAST |
|
Pfam:INT_SG_DDX_CT_C
|
803 |
865 |
4e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171692
AA Change: L244Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125769
Gene: ENSMUSG00000091155
AA Change: L244Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SERPIN
|
37 |
399 |
4.76e-58 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh15 |
T |
C |
8: 123,584,130 (GRCm39) |
V77A |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,651,820 (GRCm39) |
V3077I |
unknown |
Het |
| Erbb2 |
T |
C |
11: 98,313,873 (GRCm39) |
L272P |
possibly damaging |
Het |
| Exd1 |
T |
C |
2: 119,350,654 (GRCm39) |
T536A |
probably benign |
Het |
| Hoxc9 |
A |
T |
15: 102,890,185 (GRCm39) |
H34L |
probably benign |
Het |
| Kif19a |
G |
T |
11: 114,675,731 (GRCm39) |
R401L |
possibly damaging |
Het |
| Mad2l1bp |
A |
T |
17: 46,463,933 (GRCm39) |
H30Q |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,371,855 (GRCm39) |
L26P |
probably damaging |
Het |
| Mmp16 |
G |
A |
4: 18,011,501 (GRCm39) |
V110I |
possibly damaging |
Het |
| Or2m13 |
T |
C |
16: 19,226,068 (GRCm39) |
S233G |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,824,906 (GRCm39) |
A863V |
probably benign |
Het |
| Rnf168 |
G |
A |
16: 32,108,028 (GRCm39) |
S219N |
probably benign |
Het |
| Vmn1r75 |
T |
C |
7: 11,614,883 (GRCm39) |
V205A |
probably damaging |
Het |
| Zscan4d |
A |
G |
7: 10,895,927 (GRCm39) |
V481A |
possibly damaging |
Het |
|
| Other mutations in Serpine3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1589:Serpine3
|
UTSW |
14 |
62,911,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1971:Serpine3
|
UTSW |
14 |
62,902,533 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2115:Serpine3
|
UTSW |
14 |
62,910,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4097:Serpine3
|
UTSW |
14 |
62,908,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4458:Serpine3
|
UTSW |
14 |
62,911,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5306:Serpine3
|
UTSW |
14 |
62,908,382 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5662:Serpine3
|
UTSW |
14 |
62,908,291 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6330:Serpine3
|
UTSW |
14 |
62,902,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7499:Serpine3
|
UTSW |
14 |
62,902,476 (GRCm39) |
nonsense |
probably null |
|
|
R7635:Serpine3
|
UTSW |
14 |
62,910,464 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8885:Serpine3
|
UTSW |
14 |
62,902,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8922:Serpine3
|
UTSW |
14 |
62,910,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9066:Serpine3
|
UTSW |
14 |
62,929,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGATTGCTTCCTGAGGCTG -3'
(R):5'- CTCTAAGTGCAAGCCTCACTG -3'
Sequencing Primer
(F):5'- TTCCTGAGGCTGAGGAGGAC -3'
(R):5'- GTGCAAGCCTCACTGGATAACATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation