Incidental Mutation 'R5155:Psme4'
ID |
396676 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psme4
|
Ensembl Gene |
ENSMUSG00000040850 |
Gene Name |
proteasome (prosome, macropain) activator subunit 4 |
Synonyms |
|
MMRRC Submission |
042737-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5155 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
30721726-30830361 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30826806 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 1775
(Y1775F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041231]
|
AlphaFold |
Q5SSW2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041231
AA Change: Y1775F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045460 Gene: ENSMUSG00000040850 AA Change: Y1775F
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
low complexity region
|
122 |
133 |
N/A |
INTRINSIC |
Pfam:BLM10_mid
|
330 |
828 |
8.8e-119 |
PFAM |
SCOP:d1b3ua_
|
1183 |
1716 |
3e-14 |
SMART |
Pfam:DUF3437
|
1756 |
1843 |
5.3e-39 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155719
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele show normal repair of DNA double-strand breaks but exhibit significantly reduced male fertility due to defects in spermatogenesis observed in both meiotic spermatocytes and postmeiotic haploid spermatids. [provided by MGI curators]
|
Allele List at MGI |
All alleles(25) : Targeted, knock-out(1) Gene trapped(24) |
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,482,447 (GRCm39) |
V4326A |
probably damaging |
Het |
Actn4 |
A |
G |
7: 28,661,442 (GRCm39) |
|
probably null |
Het |
Adamts8 |
A |
G |
9: 30,865,844 (GRCm39) |
D464G |
probably benign |
Het |
Adss1 |
T |
C |
12: 112,604,642 (GRCm39) |
I366T |
probably damaging |
Het |
Alox12e |
T |
C |
11: 70,207,081 (GRCm39) |
D575G |
possibly damaging |
Het |
Ankrd44 |
A |
T |
1: 54,817,489 (GRCm39) |
M73K |
probably benign |
Het |
Ap4e1 |
A |
G |
2: 126,905,289 (GRCm39) |
T987A |
probably benign |
Het |
Banp |
A |
C |
8: 122,727,759 (GRCm39) |
S318R |
probably damaging |
Het |
Bcas1 |
T |
C |
2: 170,260,538 (GRCm39) |
H47R |
probably damaging |
Het |
Brwd1 |
G |
T |
16: 95,803,993 (GRCm39) |
S2524* |
probably null |
Het |
Btbd8 |
T |
C |
5: 107,638,569 (GRCm39) |
I323T |
probably damaging |
Het |
Cand2 |
T |
A |
6: 115,769,219 (GRCm39) |
D676E |
probably benign |
Het |
Cc2d1a |
A |
T |
8: 84,867,755 (GRCm39) |
H224Q |
probably benign |
Het |
Ccdc138 |
A |
T |
10: 58,343,394 (GRCm39) |
Y83F |
probably benign |
Het |
Ccdc162 |
A |
T |
10: 41,429,576 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
A |
C |
10: 41,455,147 (GRCm39) |
S396A |
probably damaging |
Het |
Ces1e |
A |
T |
8: 93,928,034 (GRCm39) |
*562R |
probably null |
Het |
Clstn2 |
T |
A |
9: 97,338,484 (GRCm39) |
M892L |
probably benign |
Het |
Crybg3 |
T |
C |
16: 59,345,264 (GRCm39) |
T2673A |
possibly damaging |
Het |
Cstf3 |
A |
G |
2: 104,482,830 (GRCm39) |
N326S |
probably benign |
Het |
Cux1 |
G |
A |
5: 136,594,295 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
T |
G |
9: 86,922,456 (GRCm39) |
M155R |
probably benign |
Het |
D130043K22Rik |
A |
G |
13: 25,056,273 (GRCm39) |
D535G |
probably damaging |
Het |
Dnah2 |
G |
A |
11: 69,313,362 (GRCm39) |
P4266S |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,682,654 (GRCm39) |
N272I |
probably benign |
Het |
Dsg2 |
A |
G |
18: 20,731,715 (GRCm39) |
Y779C |
possibly damaging |
Het |
Eif4g3 |
T |
A |
4: 137,854,054 (GRCm39) |
N507K |
probably benign |
Het |
Elavl4 |
T |
C |
4: 110,149,833 (GRCm39) |
Q3R |
probably null |
Het |
Engase |
T |
G |
11: 118,372,107 (GRCm39) |
I133S |
probably benign |
Het |
Ercc5 |
T |
C |
1: 44,219,782 (GRCm39) |
V1018A |
probably damaging |
Het |
Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
Fam8a1 |
G |
A |
13: 46,827,038 (GRCm39) |
A270T |
probably benign |
Het |
Fhdc1 |
T |
G |
3: 84,353,457 (GRCm39) |
Q589H |
probably benign |
Het |
Gatm |
G |
A |
2: 122,440,334 (GRCm39) |
T35I |
probably benign |
Het |
Gcgr |
T |
C |
11: 120,427,872 (GRCm39) |
I271T |
probably benign |
Het |
Gm527 |
T |
A |
12: 64,970,381 (GRCm39) |
Y239N |
probably damaging |
Het |
H2-Ab1 |
A |
G |
17: 34,486,358 (GRCm39) |
H139R |
possibly damaging |
Het |
Herc2 |
G |
A |
7: 55,877,574 (GRCm39) |
R4547Q |
possibly damaging |
Het |
Itga1 |
A |
T |
13: 115,171,839 (GRCm39) |
S89T |
probably benign |
Het |
Kash5 |
C |
A |
7: 44,839,078 (GRCm39) |
E53* |
probably null |
Het |
Katnip |
A |
G |
7: 125,471,356 (GRCm39) |
T1486A |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,258,607 (GRCm39) |
M1365V |
probably benign |
Het |
Lrp1b |
A |
C |
2: 41,618,634 (GRCm39) |
|
probably null |
Het |
Map1a |
G |
A |
2: 121,132,867 (GRCm39) |
A990T |
probably damaging |
Het |
Micall2 |
C |
A |
5: 139,695,986 (GRCm39) |
L784F |
probably damaging |
Het |
Mmp9 |
T |
C |
2: 164,790,986 (GRCm39) |
|
probably null |
Het |
Mrps7 |
T |
A |
11: 115,495,655 (GRCm39) |
Y64* |
probably null |
Het |
Mslnl |
C |
T |
17: 25,957,942 (GRCm39) |
Q62* |
probably null |
Het |
Nfil3 |
A |
G |
13: 53,122,616 (GRCm39) |
L96P |
probably damaging |
Het |
Or2f1 |
A |
G |
6: 42,721,748 (GRCm39) |
Y259C |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,863,457 (GRCm39) |
D756G |
possibly damaging |
Het |
Plxnd1 |
C |
T |
6: 115,935,949 (GRCm39) |
|
probably null |
Het |
Prickle4 |
C |
T |
17: 48,000,982 (GRCm39) |
|
probably null |
Het |
Prr9 |
T |
A |
3: 92,030,356 (GRCm39) |
T95S |
possibly damaging |
Het |
Prrc2a |
A |
G |
17: 35,379,067 (GRCm39) |
|
probably null |
Het |
Prrt3 |
A |
G |
6: 113,474,520 (GRCm39) |
|
probably null |
Het |
Pum2 |
T |
C |
12: 8,763,572 (GRCm39) |
V243A |
possibly damaging |
Het |
Rnf32 |
T |
C |
5: 29,408,145 (GRCm39) |
S125P |
probably damaging |
Het |
Rnf8 |
A |
G |
17: 29,845,604 (GRCm39) |
Y65C |
probably damaging |
Het |
Rph3a |
T |
C |
5: 121,086,833 (GRCm39) |
T456A |
possibly damaging |
Het |
Scaper |
T |
A |
9: 55,463,370 (GRCm39) |
Q854L |
probably null |
Het |
Sez6l2 |
T |
C |
7: 126,561,545 (GRCm39) |
S472P |
probably damaging |
Het |
Spsb3 |
T |
C |
17: 25,105,969 (GRCm39) |
|
probably benign |
Het |
Srebf2 |
A |
G |
15: 82,080,427 (GRCm39) |
D40G |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,437,408 (GRCm39) |
N1389D |
probably benign |
Het |
Taf4b |
G |
T |
18: 14,963,152 (GRCm39) |
A631S |
probably benign |
Het |
Tcstv1b |
T |
C |
13: 120,635,089 (GRCm39) |
S124P |
probably benign |
Het |
Tigd4 |
G |
A |
3: 84,501,970 (GRCm39) |
V296M |
possibly damaging |
Het |
Tsc22d2 |
T |
A |
3: 58,324,737 (GRCm39) |
|
probably benign |
Het |
Uso1 |
T |
A |
5: 92,315,194 (GRCm39) |
|
probably null |
Het |
Vmn2r6 |
T |
G |
3: 64,445,935 (GRCm39) |
N597H |
probably benign |
Het |
Zfc3h1 |
T |
A |
10: 115,248,026 (GRCm39) |
S1076R |
possibly damaging |
Het |
Zfp64 |
T |
A |
2: 168,748,885 (GRCm39) |
Q44L |
probably benign |
Het |
|
Other mutations in Psme4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00228:Psme4
|
APN |
11 |
30,765,710 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00401:Psme4
|
APN |
11 |
30,771,079 (GRCm39) |
splice site |
probably benign |
|
IGL00475:Psme4
|
APN |
11 |
30,795,252 (GRCm39) |
missense |
probably benign |
0.14 |
IGL00576:Psme4
|
APN |
11 |
30,773,145 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL00817:Psme4
|
APN |
11 |
30,770,129 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01525:Psme4
|
APN |
11 |
30,759,936 (GRCm39) |
splice site |
probably benign |
|
IGL01862:Psme4
|
APN |
11 |
30,762,038 (GRCm39) |
nonsense |
probably null |
|
IGL02310:Psme4
|
APN |
11 |
30,787,484 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02477:Psme4
|
APN |
11 |
30,792,083 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02545:Psme4
|
APN |
11 |
30,791,586 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02608:Psme4
|
APN |
11 |
30,770,944 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02621:Psme4
|
APN |
11 |
30,798,131 (GRCm39) |
missense |
probably benign |
|
IGL02822:Psme4
|
APN |
11 |
30,798,204 (GRCm39) |
unclassified |
probably benign |
|
IGL02833:Psme4
|
APN |
11 |
30,800,715 (GRCm39) |
unclassified |
probably benign |
|
IGL02964:Psme4
|
APN |
11 |
30,741,095 (GRCm39) |
nonsense |
probably null |
|
IGL03273:Psme4
|
APN |
11 |
30,798,130 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03348:Psme4
|
APN |
11 |
30,826,796 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03382:Psme4
|
APN |
11 |
30,757,788 (GRCm39) |
missense |
possibly damaging |
0.94 |
H2330:Psme4
|
UTSW |
11 |
30,801,210 (GRCm39) |
missense |
probably benign |
0.17 |
PIT4378001:Psme4
|
UTSW |
11 |
30,771,079 (GRCm39) |
splice site |
probably benign |
|
R0276:Psme4
|
UTSW |
11 |
30,761,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R0462:Psme4
|
UTSW |
11 |
30,798,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R0685:Psme4
|
UTSW |
11 |
30,828,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R0766:Psme4
|
UTSW |
11 |
30,757,687 (GRCm39) |
splice site |
probably null |
|
R0830:Psme4
|
UTSW |
11 |
30,757,797 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0940:Psme4
|
UTSW |
11 |
30,765,264 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1018:Psme4
|
UTSW |
11 |
30,754,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R1312:Psme4
|
UTSW |
11 |
30,757,687 (GRCm39) |
splice site |
probably null |
|
R1448:Psme4
|
UTSW |
11 |
30,802,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R1713:Psme4
|
UTSW |
11 |
30,756,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R1732:Psme4
|
UTSW |
11 |
30,798,105 (GRCm39) |
missense |
probably benign |
0.03 |
R1813:Psme4
|
UTSW |
11 |
30,754,353 (GRCm39) |
missense |
probably benign |
0.14 |
R1905:Psme4
|
UTSW |
11 |
30,760,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R1907:Psme4
|
UTSW |
11 |
30,760,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R1911:Psme4
|
UTSW |
11 |
30,765,658 (GRCm39) |
missense |
probably benign |
0.02 |
R1956:Psme4
|
UTSW |
11 |
30,782,424 (GRCm39) |
missense |
probably damaging |
0.99 |
R1974:Psme4
|
UTSW |
11 |
30,769,011 (GRCm39) |
missense |
probably benign |
0.00 |
R1980:Psme4
|
UTSW |
11 |
30,782,615 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1986:Psme4
|
UTSW |
11 |
30,780,352 (GRCm39) |
missense |
probably benign |
0.01 |
R2046:Psme4
|
UTSW |
11 |
30,767,723 (GRCm39) |
splice site |
probably benign |
|
R2142:Psme4
|
UTSW |
11 |
30,770,998 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2698:Psme4
|
UTSW |
11 |
30,824,282 (GRCm39) |
critical splice donor site |
probably null |
|
R2844:Psme4
|
UTSW |
11 |
30,795,173 (GRCm39) |
splice site |
probably benign |
|
R3807:Psme4
|
UTSW |
11 |
30,806,027 (GRCm39) |
splice site |
probably null |
|
R3876:Psme4
|
UTSW |
11 |
30,806,068 (GRCm39) |
missense |
probably damaging |
0.99 |
R4420:Psme4
|
UTSW |
11 |
30,762,028 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4584:Psme4
|
UTSW |
11 |
30,784,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R4615:Psme4
|
UTSW |
11 |
30,784,287 (GRCm39) |
missense |
probably benign |
0.02 |
R4714:Psme4
|
UTSW |
11 |
30,782,573 (GRCm39) |
missense |
probably benign |
0.02 |
R5008:Psme4
|
UTSW |
11 |
30,806,896 (GRCm39) |
intron |
probably benign |
|
R5109:Psme4
|
UTSW |
11 |
30,741,095 (GRCm39) |
nonsense |
probably null |
|
R5199:Psme4
|
UTSW |
11 |
30,803,272 (GRCm39) |
missense |
probably benign |
0.00 |
R5205:Psme4
|
UTSW |
11 |
30,782,666 (GRCm39) |
intron |
probably benign |
|
R5452:Psme4
|
UTSW |
11 |
30,741,168 (GRCm39) |
missense |
probably benign |
|
R5491:Psme4
|
UTSW |
11 |
30,765,246 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5685:Psme4
|
UTSW |
11 |
30,759,837 (GRCm39) |
missense |
probably damaging |
0.99 |
R5764:Psme4
|
UTSW |
11 |
30,722,364 (GRCm39) |
intron |
probably benign |
|
R5853:Psme4
|
UTSW |
11 |
30,741,234 (GRCm39) |
critical splice donor site |
probably null |
|
R5865:Psme4
|
UTSW |
11 |
30,741,993 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5903:Psme4
|
UTSW |
11 |
30,791,589 (GRCm39) |
missense |
probably benign |
0.28 |
R5927:Psme4
|
UTSW |
11 |
30,754,294 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6004:Psme4
|
UTSW |
11 |
30,806,896 (GRCm39) |
intron |
probably benign |
|
R6102:Psme4
|
UTSW |
11 |
30,815,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R6247:Psme4
|
UTSW |
11 |
30,803,245 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6527:Psme4
|
UTSW |
11 |
30,782,175 (GRCm39) |
missense |
probably benign |
|
R6750:Psme4
|
UTSW |
11 |
30,803,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R6885:Psme4
|
UTSW |
11 |
30,784,307 (GRCm39) |
nonsense |
probably null |
|
R6939:Psme4
|
UTSW |
11 |
30,787,291 (GRCm39) |
missense |
probably damaging |
0.99 |
R6945:Psme4
|
UTSW |
11 |
30,787,437 (GRCm39) |
missense |
probably benign |
0.06 |
R7029:Psme4
|
UTSW |
11 |
30,722,474 (GRCm39) |
intron |
probably benign |
|
R7049:Psme4
|
UTSW |
11 |
30,763,904 (GRCm39) |
splice site |
probably null |
|
R7098:Psme4
|
UTSW |
11 |
30,800,661 (GRCm39) |
missense |
probably damaging |
0.99 |
R7107:Psme4
|
UTSW |
11 |
30,798,105 (GRCm39) |
missense |
probably benign |
0.03 |
R7223:Psme4
|
UTSW |
11 |
30,824,226 (GRCm39) |
missense |
probably benign |
0.33 |
R7319:Psme4
|
UTSW |
11 |
30,757,790 (GRCm39) |
missense |
probably benign |
0.00 |
R7375:Psme4
|
UTSW |
11 |
30,722,700 (GRCm39) |
splice site |
probably null |
|
R7410:Psme4
|
UTSW |
11 |
30,765,279 (GRCm39) |
nonsense |
probably null |
|
R7469:Psme4
|
UTSW |
11 |
30,752,837 (GRCm39) |
missense |
probably benign |
0.20 |
R7651:Psme4
|
UTSW |
11 |
30,787,334 (GRCm39) |
missense |
probably damaging |
0.98 |
R7679:Psme4
|
UTSW |
11 |
30,828,425 (GRCm39) |
missense |
probably damaging |
0.99 |
R7681:Psme4
|
UTSW |
11 |
30,741,975 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7822:Psme4
|
UTSW |
11 |
30,824,245 (GRCm39) |
missense |
probably benign |
|
R8013:Psme4
|
UTSW |
11 |
30,754,320 (GRCm39) |
missense |
probably benign |
0.06 |
R8130:Psme4
|
UTSW |
11 |
30,792,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R8323:Psme4
|
UTSW |
11 |
30,793,532 (GRCm39) |
missense |
probably damaging |
0.99 |
R8330:Psme4
|
UTSW |
11 |
30,793,583 (GRCm39) |
missense |
probably benign |
0.00 |
R8363:Psme4
|
UTSW |
11 |
30,762,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R8491:Psme4
|
UTSW |
11 |
30,722,161 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8690:Psme4
|
UTSW |
11 |
30,787,319 (GRCm39) |
missense |
probably benign |
0.00 |
R8696:Psme4
|
UTSW |
11 |
30,759,896 (GRCm39) |
missense |
probably damaging |
0.99 |
R8743:Psme4
|
UTSW |
11 |
30,828,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R8998:Psme4
|
UTSW |
11 |
30,788,957 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9241:Psme4
|
UTSW |
11 |
30,815,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R9657:Psme4
|
UTSW |
11 |
30,788,980 (GRCm39) |
missense |
probably benign |
0.00 |
R9736:Psme4
|
UTSW |
11 |
30,797,411 (GRCm39) |
missense |
probably damaging |
0.99 |
R9744:Psme4
|
UTSW |
11 |
30,765,294 (GRCm39) |
critical splice donor site |
probably null |
|
R9746:Psme4
|
UTSW |
11 |
30,826,868 (GRCm39) |
nonsense |
probably null |
|
V5088:Psme4
|
UTSW |
11 |
30,801,210 (GRCm39) |
missense |
probably benign |
0.17 |
X0063:Psme4
|
UTSW |
11 |
30,782,600 (GRCm39) |
missense |
possibly damaging |
0.66 |
Z1176:Psme4
|
UTSW |
11 |
30,793,522 (GRCm39) |
missense |
possibly damaging |
0.87 |
Z1177:Psme4
|
UTSW |
11 |
30,762,138 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Psme4
|
UTSW |
11 |
30,756,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCAGCCACAGAAATCATGC -3'
(R):5'- ATGCTTAGCCTCCAATTTGATG -3'
Sequencing Primer
(F):5'- CCACAGAAATCATGCTATTATTATGC -3'
(R):5'- AGCCTCCAATTTGATGGTATTTTG -3'
|
Posted On |
2016-06-21 |