Incidental Mutation 'IGL01071:Psmd14'
ID |
50416 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Psmd14
|
Ensembl Gene |
ENSMUSG00000026914 |
Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 |
Synonyms |
Pad1, 2610312C03Rik, POH1, 3200001M20Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01071
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
61542038-61630720 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61630407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 306
(T306A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028278]
[ENSMUST00000048934]
|
AlphaFold |
O35593 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028278
AA Change: T306A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000028278 Gene: ENSMUSG00000026914 AA Change: T306A
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
JAB_MPN
|
30 |
165 |
3.71e-49 |
SMART |
Pfam:MitMem_reg
|
173 |
307 |
9e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000048934
|
SMART Domains |
Protein: ENSMUSP00000046787 Gene: ENSMUSG00000035033
Domain | Start | End | E-Value | Type |
low complexity region
|
108 |
122 |
N/A |
INTRINSIC |
TBOX
|
203 |
398 |
1.6e-125 |
SMART |
Pfam:T-box_assoc
|
418 |
679 |
9.6e-93 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125388
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136867
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154627
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157169
|
Meta Mutation Damage Score |
0.0620 |
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]
|
Allele List at MGI |
All alleles(42) : Gene trapped(42) |
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544G11Rik |
A |
C |
6: 65,930,137 (GRCm39) |
D124A |
probably damaging |
Het |
Arhgef17 |
C |
A |
7: 100,534,907 (GRCm39) |
V1137L |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,873,127 (GRCm39) |
D462G |
possibly damaging |
Het |
Birc6 |
A |
T |
17: 74,938,696 (GRCm39) |
N2701Y |
probably damaging |
Het |
Cadps |
C |
T |
14: 12,509,091 (GRCm38) |
|
probably null |
Het |
Camk2a |
T |
C |
18: 61,113,228 (GRCm39) |
|
probably null |
Het |
Capn10 |
T |
A |
1: 92,872,797 (GRCm39) |
W508R |
probably damaging |
Het |
Cntn3 |
A |
T |
6: 102,397,212 (GRCm39) |
|
probably null |
Het |
Crisp4 |
A |
G |
1: 18,207,231 (GRCm39) |
V19A |
probably benign |
Het |
Depdc1b |
A |
T |
13: 108,493,975 (GRCm39) |
Y121F |
probably benign |
Het |
Dsg1b |
T |
A |
18: 20,542,272 (GRCm39) |
S926R |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
Gm26938 |
A |
C |
5: 139,794,228 (GRCm39) |
V117G |
possibly damaging |
Het |
Keg1 |
T |
A |
19: 12,696,364 (GRCm39) |
Y183N |
probably damaging |
Het |
Mpi |
A |
T |
9: 57,457,875 (GRCm39) |
I109N |
probably damaging |
Het |
Or12j3 |
C |
T |
7: 139,953,098 (GRCm39) |
A142T |
probably benign |
Het |
Or13a20 |
C |
T |
7: 140,232,827 (GRCm39) |
H312Y |
possibly damaging |
Het |
Or14a259 |
T |
C |
7: 86,012,768 (GRCm39) |
K259R |
possibly damaging |
Het |
Or4c112 |
A |
G |
2: 88,853,519 (GRCm39) |
V276A |
probably benign |
Het |
Pcdhb20 |
A |
G |
18: 37,637,738 (GRCm39) |
E88G |
possibly damaging |
Het |
Pde6b |
G |
A |
5: 108,567,581 (GRCm39) |
W290* |
probably null |
Het |
Phf20 |
T |
A |
2: 156,136,008 (GRCm39) |
|
probably null |
Het |
Pkd1l1 |
A |
T |
11: 8,798,921 (GRCm39) |
H1830Q |
probably benign |
Het |
Proc |
T |
C |
18: 32,256,770 (GRCm39) |
D299G |
probably damaging |
Het |
Rab32 |
G |
A |
10: 10,433,591 (GRCm39) |
A81V |
probably damaging |
Het |
Samd14 |
G |
A |
11: 94,912,294 (GRCm39) |
|
probably benign |
Het |
Sh3rf1 |
T |
A |
8: 61,678,993 (GRCm39) |
C12S |
probably damaging |
Het |
Sipa1l3 |
C |
T |
7: 29,023,645 (GRCm39) |
V663M |
possibly damaging |
Het |
Slc2a5 |
A |
G |
4: 150,205,190 (GRCm39) |
|
probably benign |
Het |
Tasor |
T |
A |
14: 27,164,579 (GRCm39) |
|
probably null |
Het |
Tbkbp1 |
T |
C |
11: 97,040,388 (GRCm39) |
I9V |
probably damaging |
Het |
Trip10 |
C |
A |
17: 57,561,332 (GRCm39) |
R196S |
possibly damaging |
Het |
Vav1 |
T |
C |
17: 57,606,176 (GRCm39) |
Y267H |
probably benign |
Het |
Wdr1 |
T |
C |
5: 38,687,410 (GRCm39) |
K207R |
probably benign |
Het |
|
Other mutations in Psmd14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00496:Psmd14
|
APN |
2 |
61,591,026 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03036:Psmd14
|
APN |
2 |
61,614,205 (GRCm39) |
missense |
probably damaging |
1.00 |
Agra
|
UTSW |
2 |
61,591,356 (GRCm39) |
missense |
probably damaging |
1.00 |
3-1:Psmd14
|
UTSW |
2 |
61,591,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R0506:Psmd14
|
UTSW |
2 |
61,630,407 (GRCm39) |
missense |
probably benign |
0.01 |
R1006:Psmd14
|
UTSW |
2 |
61,627,726 (GRCm39) |
splice site |
probably null |
|
R1518:Psmd14
|
UTSW |
2 |
61,591,335 (GRCm39) |
missense |
probably damaging |
0.99 |
R1543:Psmd14
|
UTSW |
2 |
61,615,874 (GRCm39) |
missense |
probably benign |
0.00 |
R1913:Psmd14
|
UTSW |
2 |
61,615,800 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2356:Psmd14
|
UTSW |
2 |
61,630,351 (GRCm39) |
missense |
probably benign |
|
R6820:Psmd14
|
UTSW |
2 |
61,607,068 (GRCm39) |
missense |
probably benign |
|
R7271:Psmd14
|
UTSW |
2 |
61,591,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R9075:Psmd14
|
UTSW |
2 |
61,607,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |