Incidental Mutation 'R4279:Psmd6'
| ID |
322817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmd6
|
| Ensembl Gene |
ENSMUSG00000021737 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 |
| Synonyms |
2400006A19Rik |
| MMRRC Submission |
041079-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R4279 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
8348818-8357578 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14112297 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 388
(N388S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022256]
[ENSMUST00000022257]
[ENSMUST00000224955]
|
| AlphaFold |
Q99JI4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022256
AA Change: N388S
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022256
Gene: ENSMUSG00000021737
AA Change: N388S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPN7
|
66 |
239 |
5e-65 |
PFAM |
|
PINT
|
290 |
373 |
9.59e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022257
|
| SMART Domains |
Protein: ENSMUSP00000022257
Gene: ENSMUSG00000021738
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
135 |
157 |
2.47e1 |
SMART |
|
low complexity region
|
174 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
218 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
313 |
381 |
1.4e-30 |
PFAM |
|
low complexity region
|
393 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
675 |
713 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224076
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224955
|
| Meta Mutation Damage Score |
0.0720 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
A |
15: 96,269,637 (GRCm39) |
L1250Q |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,815,355 (GRCm39) |
N364Y |
possibly damaging |
Het |
| Ccl25 |
T |
A |
8: 4,399,829 (GRCm39) |
L56Q |
probably damaging |
Het |
| Ctnnd2 |
C |
A |
15: 30,905,966 (GRCm39) |
A871E |
probably damaging |
Het |
| Cyp2b23 |
C |
T |
7: 26,365,452 (GRCm39) |
S461N |
possibly damaging |
Het |
| Dgat2 |
C |
A |
7: 98,813,912 (GRCm39) |
G120V |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,369,207 (GRCm39) |
I768F |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,333,765 (GRCm39) |
E356G |
probably benign |
Het |
| Fam120a |
A |
T |
13: 49,042,734 (GRCm39) |
V889D |
probably benign |
Het |
| Fxyd5 |
C |
A |
7: 30,734,811 (GRCm39) |
D139Y |
probably null |
Het |
| Gcnt2 |
T |
C |
13: 41,041,666 (GRCm39) |
V275A |
probably benign |
Het |
| Gimap4 |
A |
G |
6: 48,667,511 (GRCm39) |
I89V |
probably benign |
Het |
| Gm6578 |
G |
A |
6: 12,100,187 (GRCm39) |
|
noncoding transcript |
Het |
| Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
| Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
| Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
| Kif13b |
G |
T |
14: 65,016,805 (GRCm39) |
A1324S |
probably damaging |
Het |
| Klhl31 |
T |
C |
9: 77,563,121 (GRCm39) |
S629P |
unknown |
Het |
| Lpar1 |
A |
G |
4: 58,487,115 (GRCm39) |
V52A |
possibly damaging |
Het |
| Lrp5 |
A |
G |
19: 3,641,778 (GRCm39) |
S1395P |
possibly damaging |
Het |
| Mogs |
T |
C |
6: 83,093,048 (GRCm39) |
L132P |
probably damaging |
Het |
| Ncam1 |
C |
A |
9: 49,418,259 (GRCm39) |
|
probably benign |
Het |
| Ndufs8 |
A |
T |
19: 3,961,014 (GRCm39) |
F88I |
probably damaging |
Het |
| Nos2 |
T |
A |
11: 78,820,602 (GRCm39) |
L69Q |
probably benign |
Het |
| Or51a6 |
T |
A |
7: 102,604,292 (GRCm39) |
Q179L |
probably benign |
Het |
| Pls3 |
A |
T |
X: 74,846,138 (GRCm39) |
I192N |
probably benign |
Het |
| Rrbp1 |
T |
C |
2: 143,805,028 (GRCm39) |
T1046A |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,583,428 (GRCm39) |
E1729G |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,692,953 (GRCm39) |
D191G |
possibly damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,139,400 (GRCm39) |
F206S |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,273,886 (GRCm39) |
*968W |
probably null |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Unc13a |
T |
C |
8: 72,119,311 (GRCm39) |
K9R |
probably damaging |
Het |
| Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,786 (GRCm39) |
M199L |
probably benign |
Het |
| Vnn1 |
A |
T |
10: 23,774,410 (GRCm39) |
D151V |
possibly damaging |
Het |
| Zfp365 |
A |
T |
10: 67,733,431 (GRCm39) |
F254I |
probably benign |
Het |
|
| Other mutations in Psmd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01512:Psmd6
|
APN |
14 |
14,114,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01937:Psmd6
|
APN |
14 |
14,116,169 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03240:Psmd6
|
APN |
14 |
14,112,393 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03284:Psmd6
|
APN |
14 |
14,112,546 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1479:Psmd6
|
UTSW |
14 |
14,116,819 (GRCm38) |
intron |
probably benign |
|
|
R1627:Psmd6
|
UTSW |
14 |
14,112,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1942:Psmd6
|
UTSW |
14 |
14,116,442 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4151:Psmd6
|
UTSW |
14 |
14,120,157 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4776:Psmd6
|
UTSW |
14 |
14,120,932 (GRCm38) |
unclassified |
probably benign |
|
|
R4799:Psmd6
|
UTSW |
14 |
14,120,126 (GRCm38) |
missense |
probably benign |
|
|
R4956:Psmd6
|
UTSW |
14 |
14,116,166 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5599:Psmd6
|
UTSW |
14 |
14,120,144 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5828:Psmd6
|
UTSW |
14 |
14,119,990 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5884:Psmd6
|
UTSW |
14 |
14,116,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6362:Psmd6
|
UTSW |
14 |
14,116,949 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7208:Psmd6
|
UTSW |
14 |
14,112,225 (GRCm38) |
splice site |
probably null |
|
|
R7590:Psmd6
|
UTSW |
14 |
14,119,882 (GRCm38) |
frame shift |
probably null |
|
|
R7677:Psmd6
|
UTSW |
14 |
14,120,837 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7773:Psmd6
|
UTSW |
14 |
14,119,882 (GRCm38) |
frame shift |
probably null |
|
|
R8228:Psmd6
|
UTSW |
14 |
14,116,843 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R8236:Psmd6
|
UTSW |
14 |
14,119,882 (GRCm38) |
frame shift |
probably null |
|
|
R8506:Psmd6
|
UTSW |
14 |
14,114,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGCGGCATTAGTGGACC -3'
(R):5'- CCAACAGGTAACCTTATTATCTTCC -3'
Sequencing Primer
(F):5'- GGCATTAGTGGACCCAGTAC -3'
(R):5'- AGTTTTAAGTGCCTGAGTGTACAAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation