Incidental Mutation 'IGL02396:Psmd4'
| ID |
294359 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psmd4
|
| Ensembl Gene |
ENSMUSG00000005625 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 |
| Synonyms |
angiocidin, Mcb1, Af1, multiubiquitin-chain-binding protein |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02396
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94939999-94949880 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94943221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 61
(L61Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071664]
[ENSMUST00000107237]
[ENSMUST00000117355]
[ENSMUST00000140348]
|
| AlphaFold |
O35226 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071664
AA Change: L61Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071589
Gene: ENSMUSG00000005625
AA Change: L61Q
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
2 |
188 |
7.38e-12 |
SMART |
|
low complexity region
|
189 |
201 |
N/A |
INTRINSIC |
|
UIM
|
211 |
230 |
2.04e0 |
SMART |
|
UIM
|
285 |
304 |
1.49e-2 |
SMART |
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
379 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107237
AA Change: L61Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102857
Gene: ENSMUSG00000005625
AA Change: L61Q
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
2 |
188 |
7.38e-12 |
SMART |
|
low complexity region
|
189 |
201 |
N/A |
INTRINSIC |
|
UIM
|
211 |
230 |
2.04e0 |
SMART |
|
UIM
|
282 |
301 |
1.49e-2 |
SMART |
|
low complexity region
|
304 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
376 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117355
AA Change: L61Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113554
Gene: ENSMUSG00000005625
AA Change: L61Q
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
2 |
188 |
7.38e-12 |
SMART |
|
low complexity region
|
189 |
201 |
N/A |
INTRINSIC |
|
UIM
|
211 |
230 |
2.04e0 |
SMART |
|
UIM
|
285 |
304 |
1.49e-2 |
SMART |
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140280
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140348
|
| SMART Domains |
Protein: ENSMUSP00000114545
Gene: ENSMUSG00000005625
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UIM
|
34 |
42 |
2.4e-3 |
PFAM |
|
UIM
|
100 |
119 |
1.49e-2 |
SMART |
|
low complexity region
|
122 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147960
|
| Coding Region Coverage |
|
| 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. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality and abnormal embryogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
C |
T |
14: 54,882,256 (GRCm39) |
|
probably benign |
Het |
| Bhmt1b |
A |
G |
18: 87,774,780 (GRCm39) |
E101G |
possibly damaging |
Het |
| Bmp3 |
C |
A |
5: 99,020,578 (GRCm39) |
Q334K |
possibly damaging |
Het |
| Bnc2 |
G |
T |
4: 84,194,246 (GRCm39) |
S1026R |
probably benign |
Het |
| Bsn |
C |
T |
9: 107,993,245 (GRCm39) |
G836S |
possibly damaging |
Het |
| Cand2 |
A |
G |
6: 115,768,149 (GRCm39) |
|
probably benign |
Het |
| Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
| Ccdc38 |
A |
G |
10: 93,409,994 (GRCm39) |
N271S |
possibly damaging |
Het |
| Ccdc81 |
T |
G |
7: 89,530,857 (GRCm39) |
I362L |
probably benign |
Het |
| Cdhr3 |
T |
A |
12: 33,095,195 (GRCm39) |
I625F |
possibly damaging |
Het |
| Col12a1 |
T |
A |
9: 79,569,865 (GRCm39) |
R1568S |
probably benign |
Het |
| Cpeb4 |
T |
A |
11: 31,875,441 (GRCm39) |
S547T |
probably benign |
Het |
| Dennd4c |
T |
A |
4: 86,743,237 (GRCm39) |
N1075K |
probably damaging |
Het |
| Esrra |
C |
A |
19: 6,889,373 (GRCm39) |
V339L |
probably benign |
Het |
| Ghr |
A |
T |
15: 3,487,480 (GRCm39) |
M1K |
probably null |
Het |
| Gm4987 |
T |
A |
X: 45,544,991 (GRCm39) |
|
noncoding transcript |
Het |
| Golga2 |
G |
T |
2: 32,188,656 (GRCm39) |
|
probably benign |
Het |
| Gys1 |
T |
A |
7: 45,089,012 (GRCm39) |
I137N |
probably damaging |
Het |
| Hs3st5 |
A |
T |
10: 36,704,699 (GRCm39) |
M1L |
probably benign |
Het |
| Hsd3b5 |
T |
A |
3: 98,529,343 (GRCm39) |
T96S |
probably benign |
Het |
| Ighv6-3 |
T |
C |
12: 114,355,356 (GRCm39) |
D111G |
probably damaging |
Het |
| Immp1l |
T |
A |
2: 105,767,351 (GRCm39) |
I70N |
probably damaging |
Het |
| Ints4 |
G |
A |
7: 97,187,107 (GRCm39) |
V866I |
possibly damaging |
Het |
| Large2 |
G |
T |
2: 92,196,668 (GRCm39) |
Y529* |
probably null |
Het |
| Maf1 |
C |
A |
15: 76,237,457 (GRCm39) |
Y166* |
probably null |
Het |
| Manba |
T |
A |
3: 135,250,525 (GRCm39) |
M384K |
probably damaging |
Het |
| Mapk4 |
C |
A |
18: 74,067,068 (GRCm39) |
|
probably null |
Het |
| Mc5r |
T |
C |
18: 68,472,537 (GRCm39) |
S299P |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,700,120 (GRCm39) |
N1404K |
probably damaging |
Het |
| Milr1 |
C |
A |
11: 106,656,065 (GRCm39) |
Y212* |
probably null |
Het |
| Ncor2 |
A |
G |
5: 125,114,978 (GRCm39) |
S1115P |
probably damaging |
Het |
| Or10ag57 |
A |
T |
2: 87,218,049 (GRCm39) |
|
probably benign |
Het |
| Or4f61 |
C |
A |
2: 111,922,812 (GRCm39) |
C78F |
probably benign |
Het |
| Osbpl7 |
T |
G |
11: 96,946,377 (GRCm39) |
L158R |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,381,554 (GRCm39) |
N310I |
possibly damaging |
Het |
| Rpl21-ps6 |
A |
G |
17: 56,222,400 (GRCm39) |
|
noncoding transcript |
Het |
| Slc31a2 |
T |
C |
4: 62,215,310 (GRCm39) |
I119T |
probably damaging |
Het |
| Srgap2 |
C |
A |
1: 131,220,413 (GRCm39) |
C187F |
probably damaging |
Het |
| Tekt5 |
C |
A |
16: 10,196,931 (GRCm39) |
A307S |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,775,432 (GRCm39) |
V1916A |
unknown |
Het |
| Wee1 |
T |
G |
7: 109,741,300 (GRCm39) |
V641G |
probably damaging |
Het |
| Zfand6 |
G |
A |
7: 84,267,111 (GRCm39) |
P157L |
probably damaging |
Het |
|
| Other mutations in Psmd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0173:Psmd4
|
UTSW |
3 |
94,940,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Psmd4
|
UTSW |
3 |
94,944,012 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2907:Psmd4
|
UTSW |
3 |
94,941,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3781:Psmd4
|
UTSW |
3 |
94,944,039 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3783:Psmd4
|
UTSW |
3 |
94,942,562 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4902:Psmd4
|
UTSW |
3 |
94,943,170 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5090:Psmd4
|
UTSW |
3 |
94,942,559 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8031:Psmd4
|
UTSW |
3 |
94,943,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9221:Psmd4
|
UTSW |
3 |
94,942,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9312:Psmd4
|
UTSW |
3 |
94,940,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9428:Psmd4
|
UTSW |
3 |
94,940,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9464:Psmd4
|
UTSW |
3 |
94,940,735 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0024:Psmd4
|
UTSW |
3 |
94,944,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation