Incidental Mutation 'PIT4378001:Psme4'
ID |
555010 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psme4
|
Ensembl Gene |
ENSMUSG00000040850 |
Gene Name |
proteasome (prosome, macropain) activator subunit 4 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4378001 (G1)
|
Quality Score |
210.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
30721726-30830361 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 30771079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041231]
|
AlphaFold |
Q5SSW2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041231
|
SMART Domains |
Protein: ENSMUSP00000045460 Gene: ENSMUSG00000040850
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: ENSMUST00000121892
|
Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.8%
- 10x: 85.0%
- 20x: 72.2%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310033P09Rik |
T |
C |
11: 59,099,802 (GRCm39) |
V100A |
probably benign |
Het |
Adamtsl1 |
T |
C |
4: 86,117,601 (GRCm39) |
V188A |
possibly damaging |
Het |
Aldh6a1 |
T |
C |
12: 84,488,646 (GRCm39) |
D80G |
probably benign |
Het |
Ankrd50 |
T |
C |
3: 38,509,412 (GRCm39) |
Q62R |
possibly damaging |
Het |
Aopep |
T |
C |
13: 63,163,021 (GRCm39) |
L14P |
probably damaging |
Het |
Arrdc1 |
T |
A |
2: 24,816,645 (GRCm39) |
Y177F |
probably damaging |
Het |
Asap1 |
C |
T |
15: 64,007,697 (GRCm39) |
R384Q |
probably damaging |
Het |
Atxn2l |
A |
T |
7: 126,096,443 (GRCm39) |
V433D |
probably benign |
Het |
Bbs1 |
G |
A |
19: 4,941,703 (GRCm39) |
A529V |
probably benign |
Het |
Bbx |
G |
A |
16: 50,100,836 (GRCm39) |
R20* |
probably null |
Het |
Bend5 |
T |
C |
4: 111,288,304 (GRCm39) |
V106A |
probably benign |
Het |
C1galt1 |
A |
G |
6: 7,863,944 (GRCm39) |
N8S |
probably benign |
Het |
Cdc42ep1 |
G |
A |
15: 78,733,880 (GRCm39) |
D327N |
possibly damaging |
Het |
Cep162 |
A |
G |
9: 87,099,198 (GRCm39) |
S767P |
probably benign |
Het |
Cep43 |
T |
C |
17: 8,401,105 (GRCm39) |
S209P |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 15,945,728 (GRCm39) |
T3562A |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,570,362 (GRCm39) |
S1815P |
probably damaging |
Het |
Ei24 |
A |
T |
9: 36,697,320 (GRCm39) |
L136Q |
probably damaging |
Het |
Extl2 |
T |
G |
3: 115,804,339 (GRCm39) |
M1R |
probably null |
Het |
Fat3 |
T |
C |
9: 16,288,104 (GRCm39) |
E473G |
probably benign |
Het |
Fcgbpl1 |
G |
A |
7: 27,853,889 (GRCm39) |
D1618N |
possibly damaging |
Het |
Fhip1a |
A |
G |
3: 85,637,858 (GRCm39) |
L147P |
probably damaging |
Het |
G6pc3 |
T |
A |
11: 102,080,827 (GRCm39) |
W26R |
probably damaging |
Het |
Hc |
T |
A |
2: 34,921,876 (GRCm39) |
Y610F |
probably benign |
Het |
Hecw1 |
T |
C |
13: 14,552,368 (GRCm39) |
D77G |
probably damaging |
Het |
Hgf |
T |
C |
5: 16,816,860 (GRCm39) |
V497A |
probably damaging |
Het |
Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
Hyou1 |
A |
C |
9: 44,302,148 (GRCm39) |
D968A |
probably benign |
Het |
Jmjd1c |
T |
A |
10: 67,065,692 (GRCm39) |
S1525T |
probably damaging |
Het |
Kcnc4 |
G |
A |
3: 107,354,879 (GRCm39) |
T523I |
probably benign |
Het |
Kcng1 |
C |
T |
2: 168,104,604 (GRCm39) |
C414Y |
probably damaging |
Het |
Klhdc10 |
T |
C |
6: 30,447,411 (GRCm39) |
I204T |
probably damaging |
Het |
Krt18 |
A |
T |
15: 101,938,358 (GRCm39) |
T194S |
probably benign |
Het |
Krt76 |
A |
C |
15: 101,800,842 (GRCm39) |
N151K |
probably damaging |
Het |
Krtap31-2 |
A |
G |
11: 99,827,542 (GRCm39) |
T125A |
possibly damaging |
Het |
Lama5 |
A |
G |
2: 179,831,238 (GRCm39) |
V1807A |
possibly damaging |
Het |
Lats1 |
T |
G |
10: 7,581,369 (GRCm39) |
V718G |
probably damaging |
Het |
Mef2b |
A |
G |
8: 70,616,910 (GRCm39) |
K4E |
probably damaging |
Het |
Mertk |
T |
C |
2: 128,624,537 (GRCm39) |
|
probably null |
Het |
Mroh8 |
A |
G |
2: 157,070,620 (GRCm39) |
V577A |
possibly damaging |
Het |
Mtcl1 |
T |
G |
17: 66,745,274 (GRCm39) |
N381T |
probably damaging |
Het |
Nfyc |
T |
A |
4: 120,647,688 (GRCm39) |
|
probably null |
Het |
Nol4 |
C |
A |
18: 23,172,933 (GRCm39) |
W56L |
probably damaging |
Het |
Notch2 |
A |
T |
3: 98,050,272 (GRCm39) |
D1849V |
probably damaging |
Het |
Or10ad1 |
G |
A |
15: 98,105,452 (GRCm39) |
T271I |
probably damaging |
Het |
Or10j7 |
T |
C |
1: 173,011,381 (GRCm39) |
T207A |
probably benign |
Het |
Or14c45 |
A |
T |
7: 86,176,306 (GRCm39) |
T114S |
possibly damaging |
Het |
Or4n4b |
T |
C |
14: 50,536,355 (GRCm39) |
N137S |
probably benign |
Het |
Or5an10 |
A |
G |
19: 12,276,076 (GRCm39) |
M140T |
probably damaging |
Het |
Or7g28 |
T |
A |
9: 19,272,471 (GRCm39) |
Y60F |
probably damaging |
Het |
Or8s5 |
A |
G |
15: 98,238,153 (GRCm39) |
V239A |
possibly damaging |
Het |
Oxr1 |
G |
A |
15: 41,664,978 (GRCm39) |
V138I |
probably benign |
Het |
Pars2 |
A |
G |
4: 106,511,490 (GRCm39) |
E424G |
possibly damaging |
Het |
Peli2 |
C |
A |
14: 48,405,726 (GRCm39) |
Y50* |
probably null |
Het |
Plag1 |
T |
A |
4: 3,905,492 (GRCm39) |
H66L |
probably benign |
Het |
Robo1 |
A |
T |
16: 72,801,423 (GRCm39) |
S1016C |
probably damaging |
Het |
Rrbp1 |
A |
G |
2: 143,816,460 (GRCm39) |
V723A |
probably benign |
Het |
Sgip1 |
C |
A |
4: 102,778,280 (GRCm39) |
D292E |
unknown |
Het |
Skint4 |
T |
A |
4: 111,944,232 (GRCm39) |
C23S |
probably benign |
Het |
Slc22a28 |
A |
C |
19: 8,049,279 (GRCm39) |
S323R |
probably damaging |
Het |
Slc41a3 |
A |
G |
6: 90,617,891 (GRCm39) |
T306A |
probably benign |
Het |
Spata13 |
A |
G |
14: 60,987,445 (GRCm39) |
M868V |
probably damaging |
Het |
Spata6 |
T |
G |
4: 111,603,378 (GRCm39) |
I31S |
possibly damaging |
Het |
Sycp3 |
A |
T |
10: 88,302,366 (GRCm39) |
K119* |
probably null |
Het |
Tlk2 |
T |
A |
11: 105,172,046 (GRCm39) |
S739T |
unknown |
Het |
Trim10 |
T |
C |
17: 37,188,020 (GRCm39) |
V412A |
probably damaging |
Het |
Ttc3 |
T |
A |
16: 94,211,765 (GRCm39) |
F377I |
probably benign |
Het |
Uck1 |
T |
A |
2: 32,146,046 (GRCm39) |
H283L |
probably damaging |
Het |
Unc5a |
T |
C |
13: 55,143,681 (GRCm39) |
Y122H |
possibly damaging |
Het |
Uncx |
C |
T |
5: 139,530,377 (GRCm39) |
R152* |
probably null |
Het |
Usp44 |
A |
G |
10: 93,681,517 (GRCm39) |
|
probably benign |
Het |
Vamp2 |
A |
C |
11: 68,980,564 (GRCm39) |
D44A |
probably benign |
Het |
Vmn2r83 |
A |
G |
10: 79,304,849 (GRCm39) |
T20A |
probably benign |
Het |
Vmn2r84 |
A |
T |
10: 130,221,784 (GRCm39) |
I812N |
probably damaging |
Het |
Vrtn |
T |
G |
12: 84,695,943 (GRCm39) |
L231R |
probably damaging |
Het |
Wdr75 |
A |
G |
1: 45,859,333 (GRCm39) |
T677A |
probably damaging |
Het |
Xylt1 |
C |
A |
7: 117,148,100 (GRCm39) |
S221R |
possibly damaging |
Het |
Zscan22 |
A |
G |
7: 12,637,983 (GRCm39) |
E125G |
possibly damaging |
Het |
Zxdc |
A |
T |
6: 90,350,698 (GRCm39) |
H383L |
probably damaging |
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 |
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 |
|
R5155:Psme4
|
UTSW |
11 |
30,826,806 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2019-06-07 |