Incidental Mutation 'R5737:Psmg2'
ID |
444599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psmg2
|
Ensembl Gene |
ENSMUSG00000024537 |
Gene Name |
proteasome (prosome, macropain) assembly chaperone 2 |
Synonyms |
1700017I17Rik, Tnfsf5ip1, Clast3 |
MMRRC Submission |
043195-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
R5737 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
67774669-67787232 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67779107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 92
(S92P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025418
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025418]
[ENSMUST00000097542]
|
AlphaFold |
Q9EST4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025418
AA Change: S92P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000025418 Gene: ENSMUSG00000024537 AA Change: S92P
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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
A |
G |
13: 54,707,055 (GRCm39) |
V78A |
probably damaging |
Het |
Albfm1 |
G |
T |
5: 90,720,642 (GRCm39) |
C271F |
probably damaging |
Het |
Aldh1l2 |
T |
A |
10: 83,356,189 (GRCm39) |
D67V |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,623,100 (GRCm39) |
D253E |
probably damaging |
Het |
Arhgap42 |
T |
C |
9: 9,059,069 (GRCm39) |
K159R |
probably damaging |
Het |
Atrnl1 |
C |
T |
19: 57,766,320 (GRCm39) |
A1219V |
possibly damaging |
Het |
Cacna1c |
C |
T |
6: 118,718,893 (GRCm39) |
V386I |
probably damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,403,946 (GRCm39) |
T1015A |
possibly damaging |
Het |
Cadps2 |
T |
C |
6: 23,328,804 (GRCm39) |
M999V |
probably benign |
Het |
Ccer1 |
A |
T |
10: 97,530,546 (GRCm39) |
H403L |
possibly damaging |
Het |
Cubn |
A |
T |
2: 13,393,702 (GRCm39) |
I1433N |
probably damaging |
Het |
Dcbld2 |
T |
C |
16: 58,281,348 (GRCm39) |
V531A |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,156,125 (GRCm39) |
V175A |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,658,421 (GRCm39) |
K920R |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dscaml1 |
C |
T |
9: 45,656,483 (GRCm39) |
R1608C |
probably damaging |
Het |
Gtf3c2 |
A |
G |
5: 31,325,593 (GRCm39) |
|
probably null |
Het |
Heca |
A |
T |
10: 17,791,462 (GRCm39) |
M198K |
possibly damaging |
Het |
Igkv8-24 |
A |
T |
6: 70,194,122 (GRCm39) |
S29T |
probably benign |
Het |
Lipo2 |
A |
C |
19: 33,699,096 (GRCm39) |
N311K |
probably damaging |
Het |
Lmo7 |
T |
G |
14: 102,124,672 (GRCm39) |
I266S |
probably damaging |
Het |
Naip2 |
T |
A |
13: 100,298,362 (GRCm39) |
E558V |
probably benign |
Het |
Nelfa |
T |
A |
5: 34,056,457 (GRCm39) |
|
probably null |
Het |
Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
Rasa2 |
C |
T |
9: 96,452,718 (GRCm39) |
|
probably null |
Het |
Slc6a3 |
A |
C |
13: 73,692,923 (GRCm39) |
N181T |
probably damaging |
Het |
Tdrd5 |
A |
G |
1: 156,128,294 (GRCm39) |
M136T |
probably benign |
Het |
Tmem178b |
A |
C |
6: 40,222,575 (GRCm39) |
M97L |
possibly damaging |
Het |
Tnfaip8l1 |
A |
G |
17: 56,478,950 (GRCm39) |
D80G |
probably benign |
Het |
Tomt |
T |
C |
7: 101,549,524 (GRCm39) |
T255A |
probably benign |
Het |
Uqcc5 |
A |
G |
14: 30,850,676 (GRCm39) |
I22T |
probably benign |
Het |
Vmn2r26 |
G |
T |
6: 124,016,408 (GRCm39) |
V291F |
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 |
R1363:Psmg2
|
UTSW |
18 |
67,779,095 (GRCm39) |
frame shift |
probably null |
|
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 |
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'- ACACCGGTCCTAAAGCTTATG -3'
(R):5'- CAGAGAACGTGTTAAGCCTCATG -3'
Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- CGTGTTAAGCCTCATGAATAATCCAC -3'
|
Posted On |
2016-11-21 |