Incidental Mutation 'R1813:Psme4'
ID |
202572 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psme4
|
Ensembl Gene |
ENSMUSG00000040850 |
Gene Name |
proteasome (prosome, macropain) activator subunit 4 |
Synonyms |
|
MMRRC Submission |
039841-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1813 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
30721726-30830361 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30754353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 203
(F203L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041231]
|
AlphaFold |
Q5SSW2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041231
AA Change: F203L
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000045460 Gene: ENSMUSG00000040850 AA Change: F203L
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 |
unknown
Transcript: ENSMUST00000154757
AA Change: F211L
|
SMART Domains |
Protein: ENSMUSP00000119133 Gene: ENSMUSG00000040850 AA Change: F211L
Domain | Start | End | E-Value | Type |
low complexity region
|
131 |
142 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1286 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 94.8%
- 20x: 90.3%
|
Validation Efficiency |
96% (79/82) |
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 |
A2ml1 |
T |
A |
6: 128,543,236 (GRCm39) |
N595Y |
probably benign |
Het |
Abca6 |
A |
G |
11: 110,124,671 (GRCm39) |
|
probably benign |
Het |
Abo |
C |
A |
2: 26,733,609 (GRCm39) |
D199Y |
probably damaging |
Het |
Acvr1c |
A |
C |
2: 58,170,306 (GRCm39) |
V277G |
probably damaging |
Het |
Adam23 |
G |
A |
1: 63,584,731 (GRCm39) |
A380T |
probably benign |
Het |
Art2b |
A |
G |
7: 101,229,236 (GRCm39) |
V221A |
probably benign |
Het |
Bcam |
A |
G |
7: 19,500,640 (GRCm39) |
S153P |
probably damaging |
Het |
Brip1 |
T |
C |
11: 86,077,906 (GRCm39) |
H174R |
possibly damaging |
Het |
Ccdc186 |
T |
C |
19: 56,788,601 (GRCm39) |
D536G |
probably benign |
Het |
Cd109 |
A |
G |
9: 78,524,287 (GRCm39) |
N67S |
probably benign |
Het |
Cd8a |
G |
T |
6: 71,350,947 (GRCm39) |
M137I |
possibly damaging |
Het |
Ces2g |
T |
C |
8: 105,693,569 (GRCm39) |
F417L |
probably benign |
Het |
Clec2g |
A |
G |
6: 128,925,660 (GRCm39) |
N23S |
unknown |
Het |
Cntnap2 |
T |
C |
6: 46,507,567 (GRCm39) |
Y61C |
probably damaging |
Het |
Cog3 |
T |
A |
14: 75,979,784 (GRCm39) |
E182D |
probably benign |
Het |
Dbpht2 |
A |
G |
12: 74,342,624 (GRCm39) |
|
noncoding transcript |
Het |
Dock4 |
A |
T |
12: 40,686,227 (GRCm39) |
N154I |
probably damaging |
Het |
Dysf |
T |
G |
6: 84,128,906 (GRCm39) |
V1422G |
possibly damaging |
Het |
E2f3 |
T |
C |
13: 30,104,159 (GRCm39) |
D140G |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,611,514 (GRCm39) |
K452R |
probably benign |
Het |
Epb41l2 |
T |
A |
10: 25,317,466 (GRCm39) |
|
probably null |
Het |
Epha2 |
A |
G |
4: 141,035,857 (GRCm39) |
K98E |
possibly damaging |
Het |
Esyt1 |
T |
C |
10: 128,355,487 (GRCm39) |
D444G |
probably benign |
Het |
Fam163a |
T |
C |
1: 155,955,787 (GRCm39) |
T2A |
probably damaging |
Het |
Foxp2 |
A |
T |
6: 15,379,767 (GRCm39) |
|
probably benign |
Het |
Gcm2 |
T |
C |
13: 41,259,367 (GRCm39) |
H34R |
probably benign |
Het |
Gipr |
A |
G |
7: 18,897,996 (GRCm39) |
S79P |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,823,276 (GRCm39) |
S333P |
probably damaging |
Het |
Gm10717 |
T |
G |
9: 3,026,317 (GRCm39) |
F205C |
probably damaging |
Het |
Gzmk |
A |
G |
13: 113,309,427 (GRCm39) |
S208P |
probably damaging |
Het |
Htra2 |
G |
T |
6: 83,028,583 (GRCm39) |
A318D |
probably damaging |
Het |
Itpkc |
T |
C |
7: 26,907,805 (GRCm39) |
D633G |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,098,218 (GRCm39) |
R1805H |
probably benign |
Het |
Lama4 |
T |
A |
10: 38,909,121 (GRCm39) |
|
probably benign |
Het |
Lama4 |
T |
C |
10: 38,936,182 (GRCm39) |
V619A |
probably damaging |
Het |
Notch3 |
T |
C |
17: 32,362,402 (GRCm39) |
T1408A |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,962,753 (GRCm39) |
D779G |
probably benign |
Het |
Nxpe4 |
A |
G |
9: 48,304,678 (GRCm39) |
Y255C |
possibly damaging |
Het |
Obox6 |
A |
T |
7: 15,568,770 (GRCm39) |
H35Q |
possibly damaging |
Het |
Or2ab1 |
A |
G |
11: 58,489,133 (GRCm39) |
I304V |
probably damaging |
Het |
Or8b41 |
T |
A |
9: 38,055,025 (GRCm39) |
I198N |
possibly damaging |
Het |
Pkig |
T |
A |
2: 163,563,147 (GRCm39) |
I26N |
possibly damaging |
Het |
Plekhm2 |
C |
T |
4: 141,369,750 (GRCm39) |
V82M |
possibly damaging |
Het |
Plppr2 |
G |
A |
9: 21,859,220 (GRCm39) |
A446T |
probably damaging |
Het |
Sh3bp1 |
A |
G |
15: 78,787,880 (GRCm39) |
K137E |
probably damaging |
Het |
Shisa5 |
T |
A |
9: 108,885,108 (GRCm39) |
I126N |
probably damaging |
Het |
Slc11a1 |
T |
C |
1: 74,414,931 (GRCm39) |
L21P |
probably benign |
Het |
Slc35f1 |
C |
T |
10: 52,809,291 (GRCm39) |
P93S |
probably damaging |
Het |
Slc4a4 |
A |
G |
5: 89,194,167 (GRCm39) |
T172A |
probably damaging |
Het |
Slc9c1 |
A |
T |
16: 45,393,710 (GRCm39) |
Y551F |
probably benign |
Het |
Spata31 |
T |
C |
13: 65,069,612 (GRCm39) |
S587P |
probably benign |
Het |
Syna |
C |
A |
5: 134,588,006 (GRCm39) |
M314I |
probably benign |
Het |
Taf5l |
A |
G |
8: 124,730,152 (GRCm39) |
L144P |
probably damaging |
Het |
Tbccd1 |
T |
C |
16: 22,641,271 (GRCm39) |
T369A |
probably benign |
Het |
Tnfrsf11b |
A |
T |
15: 54,119,493 (GRCm39) |
C160* |
probably null |
Het |
Trim45 |
A |
G |
3: 100,830,283 (GRCm39) |
N19S |
probably benign |
Het |
Uba2 |
A |
G |
7: 33,850,455 (GRCm39) |
F364S |
probably damaging |
Het |
Unc50 |
T |
A |
1: 37,476,323 (GRCm39) |
L161Q |
probably damaging |
Het |
Uso1 |
A |
T |
5: 92,348,992 (GRCm39) |
|
probably null |
Het |
Usp25 |
A |
G |
16: 76,911,838 (GRCm39) |
I956V |
probably benign |
Het |
Utf1 |
C |
A |
7: 139,524,213 (GRCm39) |
L143I |
probably damaging |
Het |
Vmn1r158 |
C |
T |
7: 22,490,143 (GRCm39) |
C22Y |
probably damaging |
Het |
Vmn1r36 |
T |
A |
6: 66,693,756 (GRCm39) |
M40L |
probably benign |
Het |
Vmn2r43 |
A |
G |
7: 8,258,055 (GRCm39) |
V386A |
possibly damaging |
Het |
Vps9d1 |
C |
A |
8: 123,973,778 (GRCm39) |
R335L |
probably damaging |
Het |
Wasf1 |
T |
A |
10: 40,802,585 (GRCm39) |
V80D |
probably damaging |
Het |
Wdr72 |
G |
A |
9: 74,183,298 (GRCm39) |
V1077I |
possibly damaging |
Het |
Wnt8a |
A |
G |
18: 34,675,422 (GRCm39) |
M1V |
probably null |
Het |
Zbtb26 |
A |
G |
2: 37,326,347 (GRCm39) |
S230P |
possibly damaging |
Het |
Zfp335 |
A |
G |
2: 164,734,525 (GRCm39) |
V1247A |
probably damaging |
Het |
Zfp429 |
T |
C |
13: 67,538,505 (GRCm39) |
N313S |
possibly damaging |
Het |
Zfp74 |
A |
T |
7: 29,634,569 (GRCm39) |
C380S |
probably damaging |
Het |
Zfyve21 |
G |
A |
12: 111,791,328 (GRCm39) |
E134K |
probably damaging |
Het |
Zmynd11 |
T |
C |
13: 9,739,616 (GRCm39) |
T474A |
possibly 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 |
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 |
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 |
PCR Primer
(F):5'- TGTATACAGGGCAAGTGGTG -3'
(R):5'- TTAACAACTGTAACAACTTGCTCCC -3'
Sequencing Primer
(F):5'- gtgGTGCTAATTCTCTAGTC -3'
(R):5'- AACTATCATTTCATTGGGCTTGTC -3'
|
Posted On |
2014-06-23 |