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

Genbank: NM_134013

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0940 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30771726-30880361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30815264 bp (GRCm38)

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: 22,208,071		noncoding transcript	Het
2610021A01Rik	T	G	7: 41,626,434	I520M	probably damaging	Het
Ackr4	A	G	9: 104,099,632	F39L	probably damaging	Het
Adgre5	C	T	8: 83,733,497	S92N	probably damaging	Het
Adrb2	T	C	18: 62,179,691	D21G	probably benign	Het
AI464131	A	G	4: 41,497,996	Y545H	probably damaging	Het
Akr1c6	G	A	13: 4,436,373	E60K	probably benign	Het
Bcl7c	T	A	7: 127,707,331	N96I	possibly damaging	Het
Brca1	A	T	11: 101,532,143	S106R	possibly damaging	Het
C6	A	T	15: 4,735,235	T138S	probably benign	Het
Cul3	T	C	1: 80,322,847		probably benign	Het
Dnah8	T	A	17: 30,803,243	M3939K	probably damaging	Het
Dock4	T	A	12: 40,631,627		probably benign	Het
Dsc2	T	G	18: 20,050,059	T101P	probably damaging	Het
Dynlt1b	T	C	17: 6,430,250		probably benign	Het
E330013P04Rik	A	G	19: 60,161,922		noncoding transcript	Het
Fam160a1	A	G	3: 85,665,490	V952A	possibly damaging	Het
Fggy	A	G	4: 95,697,001	E39G	probably benign	Het
Fmo6	A	T	1: 162,926,226	C116S	probably benign	Het
Gadd45a	A	G	6: 67,036,829	I44T	possibly damaging	Het
Gmps	A	G	3: 63,976,322		probably benign	Het
Gnmt	A	G	17: 46,726,345	L171P	probably damaging	Het
Hnrnpm	G	A	17: 33,650,002	R523C	probably damaging	Het
Inpp5a	T	C	7: 139,525,738	Y202H	probably damaging	Het
Kank3	C	T	17: 33,817,476	S106F	probably damaging	Het
Lmcd1	A	G	6: 112,328,697	D253G	probably benign	Het
Lrrk2	A	T	15: 91,729,081	I803F	possibly damaging	Het
Mybpc2	T	C	7: 44,506,887	K834R	probably benign	Het
Mycbp2	A	T	14: 103,262,693		probably benign	Het
Myh4	A	T	11: 67,242,863	N243Y	probably damaging	Het
Nfatc1	C	T	18: 80,635,895	M759I	probably benign	Het
Nipal4	A	G	11: 46,150,312	I352T	possibly damaging	Het
Nomo1	A	G	7: 46,033,905	E25G	possibly damaging	Het
Olfr1221	T	A	2: 89,112,075	I146L	probably benign	Het
Olfr128	A	G	17: 37,923,700	I45V	probably damaging	Het
Olfr1408	A	G	1: 173,130,453	S255P	probably benign	Het
Olfr392	T	C	11: 73,814,224	N286S	probably damaging	Het
Olfr490	T	C	7: 108,287,057	D23G	probably benign	Het
Olfr525	T	C	7: 140,323,152	I151T	probably benign	Het
Pabpn1l	A	G	8: 122,622,444	V78A	probably benign	Het
Pde6b	T	A	5: 108,420,337	I327N	possibly damaging	Het
Phrf1	T	C	7: 141,254,855		probably benign	Het
Pkm	C	T	9: 59,668,535		probably benign	Het
Plxna2	G	A	1: 194,800,555	V1519I	probably benign	Het
Ppp2cb	T	C	8: 33,615,661		probably null	Het
Prickle2	A	G	6: 92,411,003	Y473H	probably benign	Het
Prpf3	A	G	3: 95,844,223	W389R	probably damaging	Het
Relb	A	T	7: 19,611,842	D395E	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf213	A	G	11: 119,416,563	N683S	probably benign	Het
Rtel1	T	C	2: 181,322,803	C102R	probably benign	Het
Sel1l3	C	T	5: 53,144,037		probably benign	Het
Slc8a2	A	G	7: 16,144,962	T458A	probably benign	Het
Smc3	T	A	19: 53,640,909	M931K	probably benign	Het
Sorbs2	T	C	8: 45,796,502	V795A	probably benign	Het
Tgm3	A	G	2: 130,012,406	S2G	probably benign	Het
Tpbpa	T	C	13: 60,940,053	T75A	probably damaging	Het
Trub1	A	G	19: 57,485,063		probably benign	Het
Uggt2	A	G	14: 119,091,192		probably null	Het
Ugt2a3	A	G	5: 87,327,206	V393A	possibly damaging	Het
Vav3	T	A	3: 109,562,835	M532K	possibly damaging	Het
Zfp616	A	T	11: 74,085,024	K706N	probably damaging	Het
Zkscan1	T	C	5: 138,093,170	F55S	probably damaging	Het

Other mutations in Psme4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Psme4	APN	11	30815710	critical splice donor site	probably null
IGL00401:Psme4	APN	11	30821079	splice site	probably benign
IGL00475:Psme4	APN	11	30845252	missense	probably benign	0.14
IGL00576:Psme4	APN	11	30823145	missense	possibly damaging	0.50
IGL00817:Psme4	APN	11	30820129	missense	probably benign	0.01
IGL01525:Psme4	APN	11	30809936	splice site	probably benign
IGL01862:Psme4	APN	11	30812038	nonsense	probably null
IGL02310:Psme4	APN	11	30837484	missense	probably benign	0.06
IGL02477:Psme4	APN	11	30842083	missense	probably damaging	0.99
IGL02545:Psme4	APN	11	30841586	missense	possibly damaging	0.81
IGL02608:Psme4	APN	11	30820944	missense	probably benign	0.34
IGL02621:Psme4	APN	11	30848131	missense	probably benign
IGL02822:Psme4	APN	11	30848204	unclassified	probably benign
IGL02833:Psme4	APN	11	30850715	unclassified	probably benign
IGL02964:Psme4	APN	11	30791095	nonsense	probably null
IGL03273:Psme4	APN	11	30848130	missense	probably damaging	1.00
IGL03348:Psme4	APN	11	30876796	missense	probably damaging	1.00
IGL03382:Psme4	APN	11	30807788	missense	possibly damaging	0.94
H2330:Psme4	UTSW	11	30851210	missense	probably benign	0.17
PIT4378001:Psme4	UTSW	11	30821079	splice site	probably benign
R0276:Psme4	UTSW	11	30811980	missense	probably damaging	1.00
R0462:Psme4	UTSW	11	30848117	missense	probably damaging	1.00
R0685:Psme4	UTSW	11	30878415	missense	probably damaging	1.00
R0766:Psme4	UTSW	11	30807687	splice site	probably null
R0830:Psme4	UTSW	11	30807797	missense	possibly damaging	0.53
R1018:Psme4	UTSW	11	30804310	missense	probably damaging	1.00
R1312:Psme4	UTSW	11	30807687	splice site	probably null
R1448:Psme4	UTSW	11	30852744	missense	probably damaging	1.00
R1713:Psme4	UTSW	11	30806310	missense	probably damaging	1.00
R1732:Psme4	UTSW	11	30848105	missense	probably benign	0.03
R1813:Psme4	UTSW	11	30804353	missense	probably benign	0.14
R1905:Psme4	UTSW	11	30810922	missense	probably damaging	1.00
R1907:Psme4	UTSW	11	30810922	missense	probably damaging	1.00
R1911:Psme4	UTSW	11	30815658	missense	probably benign	0.02
R1956:Psme4	UTSW	11	30832424	missense	probably damaging	0.99
R1974:Psme4	UTSW	11	30819011	missense	probably benign	0.00
R1980:Psme4	UTSW	11	30832615	missense	possibly damaging	0.84
R1986:Psme4	UTSW	11	30830352	missense	probably benign	0.01
R2046:Psme4	UTSW	11	30817723	splice site	probably benign
R2142:Psme4	UTSW	11	30820998	missense	possibly damaging	0.89
R2698:Psme4	UTSW	11	30874282	critical splice donor site	probably null
R2844:Psme4	UTSW	11	30845173	splice site	probably benign
R3807:Psme4	UTSW	11	30856027	splice site	probably null
R3876:Psme4	UTSW	11	30856068	missense	probably damaging	0.99
R4420:Psme4	UTSW	11	30812028	missense	possibly damaging	0.67
R4584:Psme4	UTSW	11	30834318	missense	probably damaging	1.00
R4615:Psme4	UTSW	11	30834287	missense	probably benign	0.02
R4714:Psme4	UTSW	11	30832573	missense	probably benign	0.02
R5008:Psme4	UTSW	11	30856896	intron	probably benign
R5109:Psme4	UTSW	11	30791095	nonsense	probably null
R5155:Psme4	UTSW	11	30876806	missense	probably damaging	1.00
R5199:Psme4	UTSW	11	30853272	missense	probably benign	0.00
R5205:Psme4	UTSW	11	30832666	intron	probably benign
R5452:Psme4	UTSW	11	30791168	missense	probably benign
R5491:Psme4	UTSW	11	30815246	missense	possibly damaging	0.63
R5685:Psme4	UTSW	11	30809837	missense	probably damaging	0.99
R5764:Psme4	UTSW	11	30772364	intron	probably benign
R5853:Psme4	UTSW	11	30791234	critical splice donor site	probably null
R5865:Psme4	UTSW	11	30791993	missense	possibly damaging	0.95
R5903:Psme4	UTSW	11	30841589	missense	probably benign	0.28
R5927:Psme4	UTSW	11	30804294	missense	possibly damaging	0.82
R6004:Psme4	UTSW	11	30856896	intron	probably benign
R6102:Psme4	UTSW	11	30865567	missense	probably damaging	1.00
R6247:Psme4	UTSW	11	30853245	missense	possibly damaging	0.60
R6527:Psme4	UTSW	11	30832175	missense	probably benign
R6750:Psme4	UTSW	11	30853203	missense	probably damaging	1.00
R6885:Psme4	UTSW	11	30834307	nonsense	probably null
R6939:Psme4	UTSW	11	30837291	missense	probably damaging	0.99
R6945:Psme4	UTSW	11	30837437	missense	probably benign	0.06
R7029:Psme4	UTSW	11	30772474	intron	probably benign
R7049:Psme4	UTSW	11	30813904	splice site	probably null
R7098:Psme4	UTSW	11	30850661	missense	probably damaging	0.99
R7107:Psme4	UTSW	11	30848105	missense	probably benign	0.03
R7223:Psme4	UTSW	11	30874226	missense	probably benign	0.33
R7319:Psme4	UTSW	11	30807790	missense	probably benign	0.00
R7375:Psme4	UTSW	11	30772700	splice site	probably null
R7410:Psme4	UTSW	11	30815279	nonsense	probably null
R7469:Psme4	UTSW	11	30802837	missense	probably benign	0.20
R7651:Psme4	UTSW	11	30837334	missense	probably damaging	0.98
R7679:Psme4	UTSW	11	30878425	missense	probably damaging	0.99
R7681:Psme4	UTSW	11	30791975	missense	possibly damaging	0.63
R7822:Psme4	UTSW	11	30874245	missense	probably benign
R8013:Psme4	UTSW	11	30804320	missense	probably benign	0.06
R8130:Psme4	UTSW	11	30842026	missense	probably damaging	1.00
R8323:Psme4	UTSW	11	30843532	missense	probably damaging	0.99
R8330:Psme4	UTSW	11	30843583	missense	probably benign	0.00
R8363:Psme4	UTSW	11	30812139	missense	probably damaging	1.00
R8491:Psme4	UTSW	11	30772161	missense	possibly damaging	0.90
R8690:Psme4	UTSW	11	30837319	missense	probably benign	0.00
R8696:Psme4	UTSW	11	30809896	missense	probably damaging	0.99
R8743:Psme4	UTSW	11	30878467	missense	probably damaging	1.00
R8998:Psme4	UTSW	11	30838957	missense	possibly damaging	0.78
R9241:Psme4	UTSW	11	30865576	missense	probably damaging	1.00
R9657:Psme4	UTSW	11	30838980	missense	probably benign	0.00
R9736:Psme4	UTSW	11	30847411	missense	probably damaging	0.99
R9744:Psme4	UTSW	11	30815294	critical splice donor site	probably null
R9746:Psme4	UTSW	11	30876868	nonsense	probably null
V5088:Psme4	UTSW	11	30851210	missense	probably benign	0.17
X0063:Psme4	UTSW	11	30832600	missense	possibly damaging	0.66
Z1176:Psme4	UTSW	11	30843522	missense	possibly damaging	0.87
Z1177:Psme4	UTSW	11	30806311	missense	probably damaging	1.00
Z1177:Psme4	UTSW	11	30812138	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