Incidental Mutation 'R1627:Psmd6'
ID |
172572 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psmd6
|
Ensembl Gene |
ENSMUSG00000021737 |
Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 |
Synonyms |
2400006A19Rik |
MMRRC Submission |
039664-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R1627 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
8348818-8357578 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 14112539 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 354
(V354M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022256]
[ENSMUST00000224955]
|
AlphaFold |
Q99JI4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022256
AA Change: V354M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022256 Gene: ENSMUSG00000021737 AA Change: V354M
Domain | Start | End | E-Value | Type |
Pfam:RPN7
|
66 |
239 |
5e-65 |
PFAM |
PINT
|
290 |
373 |
9.59e-25 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127228
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153237
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224076
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224955
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.0%
|
Validation Efficiency |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,083,880 (GRCm39) |
M630T |
probably benign |
Het |
Anpep |
T |
C |
7: 79,491,759 (GRCm39) |
I81V |
probably benign |
Het |
Bub1 |
A |
G |
2: 127,650,933 (GRCm39) |
S627P |
probably benign |
Het |
C1s1 |
T |
A |
6: 124,514,439 (GRCm39) |
N139I |
probably damaging |
Het |
Car6 |
A |
T |
4: 150,277,035 (GRCm39) |
V152D |
probably damaging |
Het |
Cdh19 |
C |
A |
1: 110,847,375 (GRCm39) |
M411I |
probably benign |
Het |
Cep95 |
A |
G |
11: 106,700,531 (GRCm39) |
E322G |
probably damaging |
Het |
Chek1 |
C |
A |
9: 36,625,737 (GRCm39) |
V303L |
probably benign |
Het |
Dctn1 |
T |
A |
6: 83,172,064 (GRCm39) |
I818N |
probably damaging |
Het |
Dscaml1 |
T |
C |
9: 45,664,445 (GRCm39) |
S2107P |
probably damaging |
Het |
Dusp14 |
A |
G |
11: 83,939,597 (GRCm39) |
I148T |
probably damaging |
Het |
Eps15 |
A |
G |
4: 109,227,754 (GRCm39) |
D645G |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,806,390 (GRCm39) |
N1153S |
possibly damaging |
Het |
Fer1l6 |
A |
G |
15: 58,513,728 (GRCm39) |
D1541G |
probably benign |
Het |
Gm14496 |
A |
G |
2: 181,640,571 (GRCm39) |
S513G |
probably damaging |
Het |
H2-D1 |
G |
T |
17: 35,482,471 (GRCm39) |
A64S |
possibly damaging |
Het |
Hsd17b2 |
T |
A |
8: 118,428,909 (GRCm39) |
F59I |
possibly damaging |
Het |
Itgb7 |
T |
G |
15: 102,131,911 (GRCm39) |
Q224P |
probably damaging |
Het |
Jak1 |
A |
G |
4: 101,048,821 (GRCm39) |
|
probably null |
Het |
Kdm1b |
G |
A |
13: 47,217,707 (GRCm39) |
|
probably null |
Het |
Lrp8 |
A |
G |
4: 107,711,613 (GRCm39) |
I466V |
probably damaging |
Het |
Mga |
A |
G |
2: 119,795,043 (GRCm39) |
D2909G |
probably damaging |
Het |
Nol8 |
T |
C |
13: 49,814,980 (GRCm39) |
S345P |
probably benign |
Het |
Nup210l |
T |
C |
3: 90,051,476 (GRCm39) |
M540T |
probably benign |
Het |
Obscn |
C |
T |
11: 59,003,464 (GRCm39) |
R1370H |
probably benign |
Het |
Or2ad1 |
A |
G |
13: 21,327,125 (GRCm39) |
F34S |
probably damaging |
Het |
Pbx3 |
A |
G |
2: 34,065,965 (GRCm39) |
V375A |
probably benign |
Het |
Ppp1r9a |
T |
C |
6: 4,906,168 (GRCm39) |
V241A |
possibly damaging |
Het |
Rab2a |
T |
C |
4: 8,578,481 (GRCm39) |
F94L |
probably damaging |
Het |
Rev1 |
T |
C |
1: 38,094,571 (GRCm39) |
D949G |
probably damaging |
Het |
Ric8a |
A |
G |
7: 140,438,091 (GRCm39) |
D110G |
probably damaging |
Het |
Rlf |
A |
T |
4: 121,007,197 (GRCm39) |
D594E |
probably benign |
Het |
Septin1 |
C |
A |
7: 126,817,230 (GRCm39) |
|
probably null |
Het |
Slco5a1 |
G |
C |
1: 13,060,607 (GRCm39) |
P38R |
probably damaging |
Het |
Snx33 |
C |
A |
9: 56,833,241 (GRCm39) |
R276L |
probably damaging |
Het |
Taf11 |
A |
T |
17: 28,124,253 (GRCm39) |
D101E |
probably benign |
Het |
Ttn |
A |
G |
2: 76,764,564 (GRCm39) |
S3168P |
probably damaging |
Het |
Uggt2 |
T |
C |
14: 119,295,075 (GRCm39) |
E41G |
possibly damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,030,249 (GRCm39) |
R692G |
probably damaging |
Het |
Zfp763 |
A |
T |
17: 33,240,758 (GRCm39) |
W24R |
probably damaging |
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 |
|
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 |
R4279:Psmd6
|
UTSW |
14 |
14,112,297 (GRCm38) |
missense |
possibly damaging |
0.81 |
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'- TGATGCTGTTGAAGTGGGCACAC -3'
(R):5'- AGCCGTTGCTTTTCCAGTTCAGG -3'
Sequencing Primer
(F):5'- TGAACCCTGTTTAGCAGCAAG -3'
(R):5'- ATAACTTCTAGGGCCAGGTTTC -3'
|
Posted On |
2014-04-24 |