Incidental Mutation 'R8409:Psmd5'
| ID |
652560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmd5
|
| Ensembl Gene |
ENSMUSG00000026869 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 |
| Synonyms |
S5b, 1500032A03Rik |
| MMRRC Submission |
067766-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8409 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
34742099-34760983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34760856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 27
(S27P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028225]
[ENSMUST00000028228]
[ENSMUST00000047447]
[ENSMUST00000113068]
[ENSMUST00000184164]
|
| AlphaFold |
Q8BJY1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028225
AA Change: S27P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028225
Gene: ENSMUSG00000026869
AA Change: S27P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasom_PSMB
|
1 |
504 |
3.8e-199 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028228
|
| SMART Domains |
Protein: ENSMUSP00000028228
Gene: ENSMUSG00000026870
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:CutA1
|
53 |
109 |
2.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028228
|
| SMART Domains |
Protein: ENSMUSP00000144258
Gene: ENSMUSG00000026870
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:CutA1
|
54 |
110 |
9e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047447
|
| SMART Domains |
Protein: ENSMUSP00000038452
Gene: ENSMUSG00000026870
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:CutA1
|
54 |
152 |
6e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113068
|
| SMART Domains |
Protein: ENSMUSP00000108691
Gene: ENSMUSG00000026870
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:CutA1
|
53 |
154 |
1.9e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184164
|
| SMART Domains |
Protein: ENSMUSP00000144477
Gene: ENSMUSG00000026870
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:CutA1
|
54 |
152 |
6e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
T |
G |
5: 121,639,540 (GRCm39) |
N502H |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
| Bptf |
A |
T |
11: 106,953,495 (GRCm39) |
S2082R |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,453,544 (GRCm39) |
T1636A |
probably benign |
Het |
| Cep83 |
C |
T |
10: 94,573,839 (GRCm39) |
Q243* |
probably null |
Het |
| Dlg5 |
T |
G |
14: 24,226,546 (GRCm39) |
E452A |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,208 (GRCm39) |
D760E |
probably damaging |
Het |
| Elob |
G |
A |
17: 24,043,933 (GRCm39) |
R89C |
probably benign |
Het |
| En2 |
T |
C |
5: 28,371,882 (GRCm39) |
S120P |
probably benign |
Het |
| Ercc4 |
G |
C |
16: 12,948,001 (GRCm39) |
R406P |
probably benign |
Het |
| Extl2 |
G |
T |
3: 115,820,911 (GRCm39) |
V253F |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,100,881 (GRCm39) |
E92G |
probably benign |
Het |
| Fbxo25 |
A |
T |
8: 13,964,999 (GRCm39) |
K17* |
probably null |
Het |
| Fig4 |
A |
T |
10: 41,141,427 (GRCm39) |
S277R |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,659,784 (GRCm39) |
S429P |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 110,891,297 (GRCm39) |
I177V |
probably benign |
Het |
| H13 |
C |
T |
2: 152,531,813 (GRCm39) |
P239L |
possibly damaging |
Het |
| Il12rb1 |
T |
A |
8: 71,269,187 (GRCm39) |
S456T |
possibly damaging |
Het |
| Irgq |
A |
G |
7: 24,233,209 (GRCm39) |
D350G |
probably benign |
Het |
| Isl2 |
T |
C |
9: 55,449,784 (GRCm39) |
S118P |
possibly damaging |
Het |
| Itpka |
C |
T |
2: 119,580,341 (GRCm39) |
R329C |
probably damaging |
Het |
| Itpripl1 |
G |
T |
2: 126,982,686 (GRCm39) |
Q479K |
probably benign |
Het |
| Kbtbd2 |
T |
C |
6: 56,757,341 (GRCm39) |
N132D |
probably damaging |
Het |
| Klb |
T |
C |
5: 65,536,878 (GRCm39) |
V736A |
probably damaging |
Het |
| Klhl3 |
T |
C |
13: 58,167,242 (GRCm39) |
D374G |
probably damaging |
Het |
| Mmp14 |
T |
A |
14: 54,678,125 (GRCm39) |
V582D |
probably damaging |
Het |
| Naalad2 |
A |
G |
9: 18,242,134 (GRCm39) |
V590A |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,197 (GRCm39) |
T50A |
probably benign |
Het |
| Or51f1 |
A |
T |
7: 102,506,477 (GRCm39) |
M4K |
probably benign |
Het |
| Or7h8 |
T |
G |
9: 20,123,542 (GRCm39) |
|
probably benign |
Het |
| Pianp |
T |
C |
6: 124,976,214 (GRCm39) |
S8P |
unknown |
Het |
| Ppbp |
T |
C |
5: 90,916,486 (GRCm39) |
S9P |
probably damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,008,752 (GRCm39) |
I696T |
probably benign |
Het |
| Ralgapa2 |
T |
A |
2: 146,086,897 (GRCm39) |
R1561S |
|
Het |
| Rassf8 |
A |
G |
6: 145,761,429 (GRCm39) |
T252A |
probably benign |
Het |
| Rpe65 |
T |
A |
3: 159,319,785 (GRCm39) |
D218E |
probably benign |
Het |
| Sec23ip |
G |
A |
7: 128,365,855 (GRCm39) |
V575I |
probably damaging |
Het |
| Slc38a3 |
G |
A |
9: 107,536,454 (GRCm39) |
|
probably benign |
Het |
| Slco6c1 |
C |
T |
1: 97,003,663 (GRCm39) |
C495Y |
probably damaging |
Het |
| Speer4f2 |
C |
A |
5: 17,582,419 (GRCm39) |
T214K |
|
Het |
| Stox1 |
A |
G |
10: 62,501,795 (GRCm39) |
L255P |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,786,363 (GRCm39) |
M989V |
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,402,452 (GRCm39) |
Y202N |
possibly damaging |
Het |
| Tmem51 |
TCCCC |
TCCC |
4: 141,764,996 (GRCm39) |
|
probably null |
Het |
| Usp34 |
T |
C |
11: 23,407,811 (GRCm39) |
S2593P |
|
Het |
| Vmn2r85 |
A |
G |
10: 130,261,257 (GRCm39) |
V360A |
probably benign |
Het |
|
| Other mutations in Psmd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01815:Psmd5
|
APN |
2 |
34,742,783 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01929:Psmd5
|
APN |
2 |
34,753,478 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02019:Psmd5
|
APN |
2 |
34,744,286 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02291:Psmd5
|
APN |
2 |
34,747,811 (GRCm39) |
missense |
probably benign |
|
|
IGL02402:Psmd5
|
APN |
2 |
34,747,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1597:Psmd5
|
UTSW |
2 |
34,757,035 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1820:Psmd5
|
UTSW |
2 |
34,760,758 (GRCm39) |
splice site |
probably null |
|
|
R4855:Psmd5
|
UTSW |
2 |
34,742,564 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4948:Psmd5
|
UTSW |
2 |
34,760,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5019:Psmd5
|
UTSW |
2 |
34,755,965 (GRCm39) |
intron |
probably benign |
|
|
R5633:Psmd5
|
UTSW |
2 |
34,746,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6208:Psmd5
|
UTSW |
2 |
34,757,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6765:Psmd5
|
UTSW |
2 |
34,746,545 (GRCm39) |
missense |
probably benign |
|
|
R6787:Psmd5
|
UTSW |
2 |
34,747,649 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7594:Psmd5
|
UTSW |
2 |
34,750,741 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7883:Psmd5
|
UTSW |
2 |
34,746,524 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8886:Psmd5
|
UTSW |
2 |
34,747,755 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9218:Psmd5
|
UTSW |
2 |
34,747,794 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9457:Psmd5
|
UTSW |
2 |
34,744,338 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGATTCCTTCCGGAGAGG -3'
(R):5'- GCGAGACTTGACAGATCTGC -3'
Sequencing Primer
(F):5'- GGACATCTTGCAATTGGACAACCTG -3'
(R):5'- CAGATCTGCTGGGAGGCTTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation