Incidental Mutation 'R7410:Psme4'
ID |
575016 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psme4
|
Ensembl Gene |
ENSMUSG00000040850 |
Gene Name |
proteasome (prosome, macropain) activator subunit 4 |
Synonyms |
|
MMRRC Submission |
045491-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7410 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
30721726-30830361 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 30765279 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 549
(Q549*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041231]
|
AlphaFold |
Q5SSW2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041231
AA Change: Q549*
|
SMART Domains |
Protein: ENSMUSP00000045460 Gene: ENSMUSG00000040850 AA Change: Q549*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210017I01Rik |
A |
G |
3: 92,512,551 (GRCm39) |
S3P |
unknown |
Het |
Adgrv1 |
A |
T |
13: 81,711,738 (GRCm39) |
D1079E |
probably benign |
Het |
Agbl5 |
A |
T |
5: 31,048,032 (GRCm39) |
Y102F |
possibly damaging |
Het |
Ankfy1 |
T |
C |
11: 72,652,330 (GRCm39) |
L1094S |
probably damaging |
Het |
Ankrd42 |
A |
T |
7: 92,259,762 (GRCm39) |
V337E |
possibly damaging |
Het |
Axl |
A |
G |
7: 25,458,208 (GRCm39) |
L849P |
probably benign |
Het |
Bmpr2 |
T |
C |
1: 59,907,652 (GRCm39) |
I915T |
probably benign |
Het |
Cables1 |
T |
A |
18: 12,074,282 (GRCm39) |
F494L |
probably benign |
Het |
Cacna1e |
A |
C |
1: 154,347,980 (GRCm39) |
V927G |
probably benign |
Het |
Cavin1 |
A |
T |
11: 100,849,670 (GRCm39) |
V320E |
probably damaging |
Het |
Cemip |
T |
G |
7: 83,602,042 (GRCm39) |
S916R |
probably damaging |
Het |
Cep57 |
G |
A |
9: 13,729,980 (GRCm39) |
|
probably benign |
Het |
Ces1d |
T |
C |
8: 93,919,433 (GRCm39) |
N120D |
probably damaging |
Het |
Cfap44 |
A |
T |
16: 44,288,776 (GRCm39) |
S1509C |
probably damaging |
Het |
Chga |
A |
G |
12: 102,528,866 (GRCm39) |
D281G |
probably benign |
Het |
Clstn2 |
A |
G |
9: 97,423,920 (GRCm39) |
F282L |
probably benign |
Het |
Cnot1 |
A |
T |
8: 96,459,787 (GRCm39) |
V1855E |
possibly damaging |
Het |
Cnr1 |
T |
A |
4: 33,944,119 (GRCm39) |
V169D |
probably damaging |
Het |
Cpd |
T |
A |
11: 76,673,134 (GRCm39) |
H1337L |
probably damaging |
Het |
Crabp2 |
T |
A |
3: 87,859,585 (GRCm39) |
D78E |
probably damaging |
Het |
Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
Cyp2ab1 |
G |
A |
16: 20,135,475 (GRCm39) |
A9V |
probably benign |
Het |
Cyp3a41b |
T |
C |
5: 145,514,967 (GRCm39) |
D86G |
probably damaging |
Het |
Dner |
T |
A |
1: 84,563,332 (GRCm39) |
D96V |
probably damaging |
Het |
Duox1 |
C |
A |
2: 122,176,874 (GRCm39) |
T1465N |
probably damaging |
Het |
Ehd3 |
T |
A |
17: 74,112,428 (GRCm39) |
V64E |
probably benign |
Het |
Ehmt1 |
A |
G |
2: 24,738,080 (GRCm39) |
V508A |
probably benign |
Het |
Ephb3 |
G |
A |
16: 21,040,158 (GRCm39) |
V761I |
possibly damaging |
Het |
Fam161b |
T |
C |
12: 84,404,575 (GRCm39) |
Q35R |
probably benign |
Het |
Fam186a |
T |
A |
15: 99,844,826 (GRCm39) |
K473* |
probably null |
Het |
Fam227b |
A |
T |
2: 125,960,983 (GRCm39) |
D215E |
probably damaging |
Het |
Fkbp15 |
C |
A |
4: 62,258,536 (GRCm39) |
D144Y |
probably damaging |
Het |
Galt |
T |
C |
4: 41,757,707 (GRCm39) |
I259T |
possibly damaging |
Het |
Gbp11 |
G |
A |
5: 105,491,774 (GRCm39) |
P8S |
probably damaging |
Het |
Gfap |
A |
T |
11: 102,783,963 (GRCm39) |
M339K |
probably damaging |
Het |
Gm14443 |
C |
T |
2: 175,011,069 (GRCm39) |
R459Q |
possibly damaging |
Het |
Grip1 |
A |
G |
10: 119,855,925 (GRCm39) |
N632S |
probably benign |
Het |
H4c18 |
G |
A |
13: 22,016,211 (GRCm39) |
R40W |
probably damaging |
Het |
Hcar1 |
T |
G |
5: 124,017,161 (GRCm39) |
I177L |
possibly damaging |
Het |
Ighv1-37 |
A |
G |
12: 114,860,099 (GRCm39) |
V37A |
probably damaging |
Het |
Ilf3 |
T |
A |
9: 21,311,100 (GRCm39) |
F657L |
unknown |
Het |
Ints2 |
T |
G |
11: 86,124,052 (GRCm39) |
T579P |
probably benign |
Het |
Iqgap1 |
G |
T |
7: 80,372,778 (GRCm39) |
Y1520* |
probably null |
Het |
Kdm4a |
T |
C |
4: 118,001,115 (GRCm39) |
H884R |
possibly damaging |
Het |
Krtap19-1 |
A |
T |
16: 88,666,132 (GRCm39) |
Y52N |
unknown |
Het |
Lama5 |
A |
T |
2: 179,844,183 (GRCm39) |
|
probably null |
Het |
Lrrc72 |
T |
C |
12: 36,272,803 (GRCm39) |
N89D |
probably damaging |
Het |
Med13l |
A |
G |
5: 118,698,897 (GRCm39) |
D16G |
possibly damaging |
Het |
Mefv |
A |
G |
16: 3,533,545 (GRCm39) |
L242P |
probably damaging |
Het |
Mob3c |
T |
C |
4: 115,688,784 (GRCm39) |
Y106H |
probably damaging |
Het |
Nlrp1a |
A |
G |
11: 71,014,683 (GRCm39) |
I189T |
probably damaging |
Het |
Nudt7 |
T |
C |
8: 114,860,559 (GRCm39) |
|
probably benign |
Het |
Or13p10 |
T |
C |
4: 118,523,629 (GRCm39) |
L305P |
probably benign |
Het |
Or4f7 |
T |
A |
2: 111,644,271 (GRCm39) |
I267L |
probably benign |
Het |
Pappa |
A |
G |
4: 65,253,956 (GRCm39) |
T1537A |
probably damaging |
Het |
Pik3r4 |
T |
A |
9: 105,527,790 (GRCm39) |
V381E |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,794,855 (GRCm39) |
Y2181N |
probably damaging |
Het |
Pmel |
G |
T |
10: 128,552,353 (GRCm39) |
V396F |
probably benign |
Het |
Prdm9 |
A |
G |
17: 15,765,259 (GRCm39) |
I507T |
possibly damaging |
Het |
Ptprg |
T |
A |
14: 11,962,657 (GRCm38) |
W152R |
probably damaging |
Het |
Ptprm |
A |
C |
17: 67,000,561 (GRCm39) |
V1141G |
probably damaging |
Het |
Rapgef5 |
G |
A |
12: 117,685,063 (GRCm39) |
V505M |
probably damaging |
Het |
Rnf213 |
T |
A |
11: 119,325,877 (GRCm39) |
M1558K |
|
Het |
Slc35a1 |
A |
G |
4: 34,675,034 (GRCm39) |
V168A |
probably benign |
Het |
Srebf1 |
T |
C |
11: 60,096,693 (GRCm39) |
T347A |
probably benign |
Het |
Stard9 |
T |
A |
2: 120,531,978 (GRCm39) |
V2745D |
probably benign |
Het |
Taar7e |
A |
T |
10: 23,914,424 (GRCm39) |
T305S |
probably benign |
Het |
Tie1 |
T |
C |
4: 118,337,074 (GRCm39) |
S551G |
probably benign |
Het |
Tmc5 |
T |
A |
7: 118,222,820 (GRCm39) |
Y173* |
probably null |
Het |
Tns2 |
T |
A |
15: 102,018,961 (GRCm39) |
V384D |
probably damaging |
Het |
Tubgcp4 |
T |
A |
2: 121,014,890 (GRCm39) |
Y267N |
probably damaging |
Het |
Vmn1r53 |
A |
G |
6: 90,200,700 (GRCm39) |
V208A |
probably damaging |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wdfy4 |
T |
C |
14: 32,696,191 (GRCm39) |
D2784G |
|
Het |
Zfp712 |
A |
C |
13: 67,189,400 (GRCm39) |
S376A |
probably benign |
Het |
Znrf3 |
C |
T |
11: 5,238,955 (GRCm39) |
C232Y |
unknown |
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 |
|
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 |
|
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'- GGTGTTTATGACAGTATCCAATGC -3'
(R):5'- TGACAGCCAGGTAAACCTCTATTC -3'
Sequencing Primer
(F):5'- GCATCGACTTGCTTGTT -3'
(R):5'- GCCAGGTAAACCTCTATTCTTATTAC -3'
|
Posted On |
2019-10-07 |