Incidental Mutation 'R5599:Psmd6'
| ID |
438957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psmd6
|
| Ensembl Gene |
ENSMUSG00000021737 |
| Gene Name |
proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 |
| Synonyms |
2400006A19Rik |
| MMRRC Submission |
043151-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R5599 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
8348818-8357578 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 14120144 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 65
(M65R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022256]
[ENSMUST00000224955]
|
| AlphaFold |
Q99JI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022256
AA Change: M65R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000022256
Gene: ENSMUSG00000021737
AA Change: M65R
| 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: ENSMUST00000147471
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224076
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226093
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
T |
A |
7: 78,946,746 (GRCm39) |
|
probably null |
Het |
| Agpat3 |
T |
C |
10: 78,110,103 (GRCm39) |
D282G |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,693,860 (GRCm39) |
A24T |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,652,424 (GRCm39) |
N1128D |
possibly damaging |
Het |
| Cry1 |
A |
T |
10: 84,980,114 (GRCm39) |
M398K |
probably benign |
Het |
| Dpp10 |
A |
G |
1: 123,832,803 (GRCm39) |
I47T |
probably damaging |
Het |
| Fpr-rs6 |
C |
T |
17: 20,402,375 (GRCm39) |
D329N |
probably benign |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gxylt1 |
CTCATCCGGGTCAT |
CTCAT |
15: 93,152,198 (GRCm39) |
|
probably benign |
Het |
| Hnrnpul1 |
G |
A |
7: 25,454,097 (GRCm39) |
|
probably benign |
Het |
| Lbx1 |
T |
A |
19: 45,223,519 (GRCm39) |
S50C |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,090,324 (GRCm39) |
N183S |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,429,738 (GRCm39) |
N444S |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,873,987 (GRCm39) |
C1626S |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,325,303 (GRCm39) |
Y390C |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,732,269 (GRCm39) |
E553G |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,069,733 (GRCm39) |
T704S |
probably benign |
Het |
| Or4c3d |
A |
G |
2: 89,882,563 (GRCm39) |
V35A |
probably benign |
Het |
| Or56a3 |
T |
C |
7: 104,735,757 (GRCm39) |
|
probably null |
Het |
| Or7g29 |
T |
G |
9: 19,286,925 (GRCm39) |
N84T |
possibly damaging |
Het |
| Or9m1b |
T |
G |
2: 87,836,349 (GRCm39) |
I258L |
probably benign |
Het |
| Plekha7 |
T |
A |
7: 115,776,117 (GRCm39) |
|
probably null |
Het |
| Polr1a |
T |
C |
6: 71,944,346 (GRCm39) |
M1271T |
possibly damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,668,323 (GRCm39) |
M595T |
probably damaging |
Het |
| Ppox |
A |
T |
1: 171,105,033 (GRCm39) |
V412D |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,793,645 (GRCm39) |
V573A |
probably benign |
Het |
| Prkcb |
T |
C |
7: 122,181,701 (GRCm39) |
Y430H |
probably benign |
Het |
| Rbm12 |
G |
A |
2: 155,938,713 (GRCm39) |
R520* |
probably null |
Het |
| Rin3 |
T |
C |
12: 102,356,188 (GRCm39) |
F830L |
probably damaging |
Het |
| Sema4b |
A |
G |
7: 79,863,039 (GRCm39) |
K104R |
probably benign |
Het |
| Slitrk1 |
T |
C |
14: 109,149,244 (GRCm39) |
D489G |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,729,789 (GRCm39) |
T110A |
possibly damaging |
Het |
| Sult2a6 |
T |
A |
7: 13,988,629 (GRCm39) |
K44* |
probably null |
Het |
| Tasor |
A |
G |
14: 27,201,886 (GRCm39) |
N1427D |
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tcstv2c |
A |
C |
13: 120,616,458 (GRCm39) |
Q99P |
probably damaging |
Het |
| Tnxb |
G |
T |
17: 34,909,176 (GRCm39) |
G1445V |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,909,179 (GRCm39) |
V1569A |
probably benign |
Het |
| Zcchc2 |
A |
G |
1: 105,959,880 (GRCm39) |
D1163G |
probably damaging |
Het |
| Zfp365 |
C |
T |
10: 67,745,197 (GRCm39) |
E194K |
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 |
|
|
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 |
|
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 |
|
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'- GGCATCTCACTGACCTTGTCAC -3'
(R):5'- TTGGCCTTAGTCGCGATCAG -3'
Sequencing Primer
(F):5'- TGTCACCTATCTGACAGAGGTAC -3'
(R):5'- TGCTAAGATCGGCTCTCAAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation