Incidental Mutation 'R1820:Psmd5'
| ID |
204765 |
| 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 |
039848-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1820 (G1)
|
| Quality Score |
191 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
34742099-34760983 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 34760758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028225]
[ENSMUST00000028228]
[ENSMUST00000047447]
[ENSMUST00000113068]
[ENSMUST00000184164]
|
| AlphaFold |
Q8BJY1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028225
|
| SMART Domains |
Protein: ENSMUSP00000028225
Gene: ENSMUSG00000026869
| 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 |
noncoding transcript
Transcript: ENSMUST00000143456
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149250
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189715
|
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,197,018 (GRCm39) |
V197A |
possibly damaging |
Het |
| 9230109A22Rik |
T |
C |
15: 25,139,176 (GRCm39) |
|
noncoding transcript |
Het |
| Acbd3 |
A |
G |
1: 180,572,703 (GRCm39) |
N321S |
probably benign |
Het |
| Actr3b |
T |
C |
5: 26,054,156 (GRCm39) |
|
probably null |
Het |
| Aldh5a1 |
T |
C |
13: 25,111,555 (GRCm39) |
D124G |
probably benign |
Het |
| Arhgap35 |
G |
A |
7: 16,295,874 (GRCm39) |
R1064W |
possibly damaging |
Het |
| Arhgef9 |
T |
A |
X: 94,125,142 (GRCm39) |
I225F |
probably damaging |
Het |
| Arl16 |
T |
C |
11: 120,357,587 (GRCm39) |
T43A |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,653,485 (GRCm39) |
W409R |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,885,655 (GRCm39) |
H320L |
probably damaging |
Het |
| Chac2 |
T |
A |
11: 30,927,496 (GRCm39) |
N141I |
probably damaging |
Het |
| Chtf18 |
C |
A |
17: 25,944,913 (GRCm39) |
G211C |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,299,129 (GRCm39) |
K3106E |
unknown |
Het |
| Cwf19l1 |
T |
A |
19: 44,115,826 (GRCm39) |
Y201F |
probably benign |
Het |
| Dcun1d1 |
A |
T |
3: 35,973,153 (GRCm39) |
L114* |
probably null |
Het |
| Fdps |
A |
T |
3: 89,002,350 (GRCm39) |
H249Q |
probably benign |
Het |
| Fhip1a |
T |
A |
3: 85,573,136 (GRCm39) |
T938S |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,931,756 (GRCm39) |
Y329F |
probably damaging |
Het |
| Kctd8 |
T |
A |
5: 69,497,684 (GRCm39) |
I321F |
probably damaging |
Het |
| Kdm5b |
G |
T |
1: 134,525,408 (GRCm39) |
R299L |
possibly damaging |
Het |
| Kif23 |
T |
C |
9: 61,833,720 (GRCm39) |
T494A |
possibly damaging |
Het |
| Kmt2e |
A |
G |
5: 23,678,545 (GRCm39) |
H208R |
probably damaging |
Het |
| Lipo5 |
A |
T |
19: 33,441,995 (GRCm39) |
|
probably null |
Het |
| Lrrc28 |
G |
T |
7: 67,290,859 (GRCm39) |
T54K |
probably damaging |
Het |
| Luc7l2 |
G |
A |
6: 38,575,754 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
A |
G |
7: 80,008,681 (GRCm39) |
F899L |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,786,002 (GRCm39) |
I633T |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,107,835 (GRCm39) |
I981F |
possibly damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,612 (GRCm39) |
S138T |
probably damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,695 (GRCm39) |
I91T |
possibly damaging |
Het |
| Pank1 |
A |
G |
19: 34,855,084 (GRCm39) |
|
probably null |
Het |
| Phc2 |
C |
T |
4: 128,637,336 (GRCm39) |
A47V |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,466,954 (GRCm39) |
R262G |
possibly damaging |
Het |
| Pnp2 |
C |
A |
14: 51,201,914 (GRCm39) |
P300Q |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,849,780 (GRCm39) |
S345T |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,570,958 (GRCm39) |
T514A |
probably benign |
Het |
| Rfx6 |
T |
G |
10: 51,599,221 (GRCm39) |
|
probably null |
Het |
| Rhbdd2 |
G |
A |
5: 135,664,903 (GRCm39) |
C78Y |
probably damaging |
Het |
| Rnf157 |
G |
T |
11: 116,245,477 (GRCm39) |
P313T |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,602,202 (GRCm39) |
L4560P |
probably damaging |
Het |
| Scai |
A |
T |
2: 38,996,990 (GRCm39) |
M268K |
possibly damaging |
Het |
| Scd3 |
A |
T |
19: 44,230,245 (GRCm39) |
T343S |
probably benign |
Het |
| Scimp |
A |
T |
11: 70,682,423 (GRCm39) |
S98T |
probably benign |
Het |
| Sfrp2 |
A |
G |
3: 83,680,461 (GRCm39) |
N207S |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,475 (GRCm39) |
Y1200C |
probably damaging |
Het |
| Sp1 |
T |
A |
15: 102,317,511 (GRCm39) |
S343R |
possibly damaging |
Het |
| Spata31d1a |
A |
T |
13: 59,849,069 (GRCm39) |
C1020S |
possibly damaging |
Het |
| Spink5 |
A |
G |
18: 44,122,486 (GRCm39) |
N317S |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,776,624 (GRCm39) |
D224G |
probably damaging |
Het |
| St8sia3 |
T |
C |
18: 64,402,703 (GRCm39) |
I114T |
probably damaging |
Het |
| Zscan5b |
C |
A |
7: 6,242,162 (GRCm39) |
H460Q |
probably damaging |
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 |
|
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 |
|
R8409:Psmd5
|
UTSW |
2 |
34,760,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AAATTAAAAGGCGTGCCGTG -3'
(R):5'- ATCTCGCGAGATTCAGAGAGG -3'
Sequencing Primer
(F):5'- GTGGACCCCGCCACAATATC -3'
(R):5'- CGAGATTCAGAGAGGCGCTC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation