Mutagenetix > Incidental Mutation

Incidental Mutation 'R0940:Psme4'

81431

Institutional Source

Beutler Lab

Gene Symbol

Psme4

Ensembl Gene

ENSMUSG00000040850

Gene Name

proteasome (prosome, macropain) activator subunit 4

Synonyms

MMRRC Submission

039079-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0940 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30721726-30830361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30765264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 544 (E544K)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041231]

AlphaFold

Q5SSW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041231
AA Change: E544K

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: E544K

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: ENSMUST00000133430

Meta Mutation Damage Score

0.8341

Coding Region Coverage

1x: 99.5%
3x: 99.1%
10x: 98.0%
20x: 96.7%

Validation Efficiency

100% (68/68)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	C	T	9: 22,119,367 (GRCm39)		noncoding transcript	Het
2610021A01Rik	T	G	7: 41,275,858 (GRCm39)	I520M	probably damaging	Het
Ackr4	A	G	9: 103,976,831 (GRCm39)	F39L	probably damaging	Het
Adgre5	C	T	8: 84,460,126 (GRCm39)	S92N	probably damaging	Het
Adrb2	T	C	18: 62,312,762 (GRCm39)	D21G	probably benign	Het
Akr1c6	G	A	13: 4,486,372 (GRCm39)	E60K	probably benign	Het
Bcl7c	T	A	7: 127,306,503 (GRCm39)	N96I	possibly damaging	Het
Brca1	A	T	11: 101,422,969 (GRCm39)	S106R	possibly damaging	Het
C6	A	T	15: 4,764,717 (GRCm39)	T138S	probably benign	Het
Cul3	T	C	1: 80,300,564 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 31,022,217 (GRCm39)	M3939K	probably damaging	Het
Dock4	T	A	12: 40,681,626 (GRCm39)		probably benign	Het
Dsc2	T	G	18: 20,183,116 (GRCm39)	T101P	probably damaging	Het
Dynlt1b	T	C	17: 6,697,649 (GRCm39)		probably benign	Het
E330013P04Rik	A	G	19: 60,150,354 (GRCm39)		noncoding transcript	Het
Fggy	A	G	4: 95,585,238 (GRCm39)	E39G	probably benign	Het
Fhip1a	A	G	3: 85,572,797 (GRCm39)	V952A	possibly damaging	Het
Fmo6	A	T	1: 162,753,795 (GRCm39)	C116S	probably benign	Het
Gadd45a	A	G	6: 67,013,813 (GRCm39)	I44T	possibly damaging	Het
Gmps	A	G	3: 63,883,743 (GRCm39)		probably benign	Het
Gnmt	A	G	17: 47,037,271 (GRCm39)	L171P	probably damaging	Het
Hnrnpm	G	A	17: 33,868,976 (GRCm39)	R523C	probably damaging	Het
Inpp5a	T	C	7: 139,105,654 (GRCm39)	Y202H	probably damaging	Het
Kank3	C	T	17: 34,036,450 (GRCm39)	S106F	probably damaging	Het
Lmcd1	A	G	6: 112,305,658 (GRCm39)	D253G	probably benign	Het
Lrrk2	A	T	15: 91,613,284 (GRCm39)	I803F	possibly damaging	Het
Mybpc2	T	C	7: 44,156,311 (GRCm39)	K834R	probably benign	Het
Mycbp2	A	T	14: 103,500,129 (GRCm39)		probably benign	Het
Myh4	A	T	11: 67,133,689 (GRCm39)	N243Y	probably damaging	Het
Myorg	A	G	4: 41,497,996 (GRCm39)	Y545H	probably damaging	Het
Nfatc1	C	T	18: 80,679,110 (GRCm39)	M759I	probably benign	Het
Nipal4	A	G	11: 46,041,139 (GRCm39)	I352T	possibly damaging	Het
Nomo1	A	G	7: 45,683,329 (GRCm39)	E25G	possibly damaging	Het
Or10j27	A	G	1: 172,958,020 (GRCm39)	S255P	probably benign	Het
Or13a19	T	C	7: 139,903,065 (GRCm39)	I151T	probably benign	Het
Or14j7	A	G	17: 38,234,591 (GRCm39)	I45V	probably damaging	Het
Or1e32	T	C	11: 73,705,050 (GRCm39)	N286S	probably damaging	Het
Or4c116	T	A	2: 88,942,419 (GRCm39)	I146L	probably benign	Het
Or5p66	T	C	7: 107,886,264 (GRCm39)	D23G	probably benign	Het
Pabpn1l	A	G	8: 123,349,183 (GRCm39)	V78A	probably benign	Het
Pde6b	T	A	5: 108,568,203 (GRCm39)	I327N	possibly damaging	Het
Phrf1	T	C	7: 140,834,768 (GRCm39)		probably benign	Het
Pkm	C	T	9: 59,575,818 (GRCm39)		probably benign	Het
Plxna2	G	A	1: 194,482,863 (GRCm39)	V1519I	probably benign	Het
Ppp2cb	T	C	8: 34,105,689 (GRCm39)		probably null	Het
Prickle2	A	G	6: 92,387,984 (GRCm39)	Y473H	probably benign	Het
Prpf3	A	G	3: 95,751,535 (GRCm39)	W389R	probably damaging	Het
Relb	A	T	7: 19,345,767 (GRCm39)	D395E	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,307,389 (GRCm39)	N683S	probably benign	Het
Rtel1	T	C	2: 180,964,596 (GRCm39)	C102R	probably benign	Het
Sel1l3	C	T	5: 53,301,379 (GRCm39)		probably benign	Het
Slc8a2	A	G	7: 15,878,887 (GRCm39)	T458A	probably benign	Het
Smc3	T	A	19: 53,629,340 (GRCm39)	M931K	probably benign	Het
Sorbs2	T	C	8: 46,249,539 (GRCm39)	V795A	probably benign	Het
Tgm3	A	G	2: 129,854,326 (GRCm39)	S2G	probably benign	Het
Tpbpa	T	C	13: 61,087,867 (GRCm39)	T75A	probably damaging	Het
Trub1	A	G	19: 57,473,495 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,328,604 (GRCm39)		probably null	Het
Ugt2a3	A	G	5: 87,475,065 (GRCm39)	V393A	possibly damaging	Het
Vav3	T	A	3: 109,470,151 (GRCm39)	M532K	possibly damaging	Het
Zfp616	A	T	11: 73,975,850 (GRCm39)	K706N	probably damaging	Het
Zkscan1	T	C	5: 138,091,432 (GRCm39)	F55S	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
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
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

PCR Primer
(F):5'- AAAGTTTCAAGCTGAATGCTGTAAGCC -3'
(R):5'- AGTGACAGCCAGGTAAACCTCTATTCT -3'

Sequencing Primer
(F):5'- gcaccagtctattctaaccctc -3'
(R):5'- ACTACTCAAAGACACATCTATTCAAG -3'

Posted On

2013-11-07