Incidental Mutation 'R1363:Psmg2'
| ID |
156367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmg2
|
| Ensembl Gene |
ENSMUSG00000024537 |
| Gene Name |
proteasome (prosome, macropain) assembly chaperone 2 |
| Synonyms |
1700017I17Rik, Tnfsf5ip1, Clast3 |
| MMRRC Submission |
039428-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R1363 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
67774669-67787232 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CTTCAGTT to CTTCAGTTCAGTT
at 67779095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025418]
[ENSMUST00000097542]
|
| AlphaFold |
Q9EST4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025418
|
| SMART Domains |
Protein: ENSMUSP00000025418
Gene: ENSMUSG00000024537
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAC2
|
17 |
230 |
3.8e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097542
|
| SMART Domains |
Protein: ENSMUSP00000095149
Gene: ENSMUSG00000073542
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CEP76-C2
|
99 |
258 |
4.1e-64 |
PFAM |
|
low complexity region
|
383 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
553 |
564 |
N/A |
INTRINSIC |
|
Blast:KIND
|
604 |
654 |
2e-27 |
BLAST |
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc88b |
T |
A |
19: 6,827,739 (GRCm39) |
Y921F |
possibly damaging |
Het |
| Cct7 |
G |
T |
6: 85,443,017 (GRCm39) |
D265Y |
probably damaging |
Het |
| Cdc14a |
CGCTGCTGCTGCTGCTGCTG |
CGCTGCTGCTGCTGCTG |
3: 116,087,509 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,257,917 (GRCm39) |
M629V |
possibly damaging |
Het |
| Dlk1 |
G |
T |
12: 109,421,430 (GRCm39) |
G48V |
probably damaging |
Het |
| Fancc |
T |
C |
13: 63,509,412 (GRCm39) |
Y60C |
probably damaging |
Het |
| Ifi204 |
C |
T |
1: 173,576,862 (GRCm39) |
V580I |
probably benign |
Het |
| Irs1 |
A |
G |
1: 82,265,009 (GRCm39) |
V1069A |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,487,247 (GRCm39) |
Q1601* |
probably null |
Het |
| Ptpn14 |
C |
A |
1: 189,530,825 (GRCm39) |
F97L |
probably damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rnf6 |
A |
T |
5: 146,148,369 (GRCm39) |
F216L |
probably benign |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,778,259 (GRCm39) |
I466V |
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,378,500 (GRCm39) |
Y246C |
probably damaging |
Het |
| Stk33 |
A |
T |
7: 108,879,028 (GRCm39) |
S440R |
probably benign |
Het |
| Ttbk2 |
T |
C |
2: 120,637,389 (GRCm39) |
|
probably null |
Het |
| Vmn2r105 |
T |
A |
17: 20,428,932 (GRCm39) |
T715S |
probably benign |
Het |
|
| Other mutations in Psmg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01550:Psmg2
|
APN |
18 |
67,786,293 (GRCm39) |
missense |
probably benign |
|
|
IGL01557:Psmg2
|
APN |
18 |
67,786,293 (GRCm39) |
missense |
probably benign |
|
|
IGL01560:Psmg2
|
APN |
18 |
67,786,293 (GRCm39) |
missense |
probably benign |
|
|
IGL01563:Psmg2
|
APN |
18 |
67,786,293 (GRCm39) |
missense |
probably benign |
|
|
IGL01569:Psmg2
|
APN |
18 |
67,786,293 (GRCm39) |
missense |
probably benign |
|
|
IGL01570:Psmg2
|
APN |
18 |
67,786,293 (GRCm39) |
missense |
probably benign |
|
|
IGL01571:Psmg2
|
APN |
18 |
67,786,293 (GRCm39) |
missense |
probably benign |
|
|
IGL01574:Psmg2
|
APN |
18 |
67,786,293 (GRCm39) |
missense |
probably benign |
|
|
IGL01586:Psmg2
|
APN |
18 |
67,786,293 (GRCm39) |
missense |
probably benign |
|
|
IGL01611:Psmg2
|
APN |
18 |
67,786,293 (GRCm39) |
missense |
probably benign |
|
|
IGL01615:Psmg2
|
APN |
18 |
67,786,293 (GRCm39) |
missense |
probably benign |
|
|
IGL01617:Psmg2
|
APN |
18 |
67,786,293 (GRCm39) |
missense |
probably benign |
|
|
IGL01630:Psmg2
|
APN |
18 |
67,786,293 (GRCm39) |
missense |
probably benign |
|
|
IGL03064:Psmg2
|
APN |
18 |
67,779,102 (GRCm39) |
nonsense |
probably null |
|
|
R0757:Psmg2
|
UTSW |
18 |
67,779,095 (GRCm39) |
frame shift |
probably null |
|
|
R1320:Psmg2
|
UTSW |
18 |
67,777,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1368:Psmg2
|
UTSW |
18 |
67,779,095 (GRCm39) |
frame shift |
probably null |
|
|
R1759:Psmg2
|
UTSW |
18 |
67,781,246 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1761:Psmg2
|
UTSW |
18 |
67,779,095 (GRCm39) |
frame shift |
probably null |
|
|
R2696:Psmg2
|
UTSW |
18 |
67,781,288 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4806:Psmg2
|
UTSW |
18 |
67,781,992 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4916:Psmg2
|
UTSW |
18 |
67,781,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5737:Psmg2
|
UTSW |
18 |
67,779,107 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6620:Psmg2
|
UTSW |
18 |
67,774,807 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6823:Psmg2
|
UTSW |
18 |
67,781,927 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7147:Psmg2
|
UTSW |
18 |
67,786,338 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8547:Psmg2
|
UTSW |
18 |
67,779,077 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8826:Psmg2
|
UTSW |
18 |
67,787,158 (GRCm39) |
utr 3 prime |
probably benign |
|
|
Z1177:Psmg2
|
UTSW |
18 |
67,786,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTGATCTTCACACTTGAACACCG -3'
(R):5'- GAGGGTACTACTGTTGCAAGGAGC -3'
Sequencing Primer
(F):5'- gacactccagaagagagcatc -3'
(R):5'- cctgcctctgcctcctg -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation