Mutagenetix > Incidental Mutation

Incidental Mutation 'R7822:Psme4'

601946

Institutional Source

Beutler Lab

Gene Symbol

Psme4

Ensembl Gene

ENSMUSG00000040850

Gene Name

proteasome (prosome, macropain) activator subunit 4

Synonyms

MMRRC Submission

Accession Numbers

Genbank: NM_134013

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7822 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30771726-30880361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30874245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1743 (D1743G)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably benign
Transcript: ENSMUST00000041231
AA Change: D1743G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: D1743G

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: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	G	A	2: 20,880,713	S551L	possibly damaging	Het
Arhgap8	A	C	15: 84,765,732	Y219S	probably damaging	Het
Ash1l	T	C	3: 89,007,264	S1734P	probably benign	Het
Btnl2	T	A	17: 34,363,314	S285T	possibly damaging	Het
Cadm4	A	G	7: 24,503,545	D364G	possibly damaging	Het
Card6	T	A	15: 5,098,865	K1016N	possibly damaging	Het
Ccdc130	T	C	8: 84,261,782	E72G	probably damaging	Het
Cdh2	G	T	18: 16,624,284	N692K	probably benign	Het
Cep76	G	T	18: 67,641,149	S9*	probably null	Het
Cklf	T	C	8: 104,251,097		probably null	Het
Ctsa	T	C	2: 164,839,232	*475R	probably null	Het
Dapk1	A	C	13: 60,725,901	D406A	probably benign	Het
Ddx4	A	T	13: 112,612,113	V443D	probably damaging	Het
Dph5	C	T	3: 115,899,750	Q106*	probably null	Het
Drg2	C	T	11: 60,462,200	R220*	probably null	Het
Efcab8	A	T	2: 153,810,912	Q509L	unknown	Het
Efs	C	T	14: 54,917,450	S444N	probably benign	Het
Evl	T	C	12: 108,648,464	V58A	probably damaging	Het
Fam71b	A	G	11: 46,404,903	N34S		Het
Gbe1	G	A	16: 70,433,612	R166H	probably damaging	Het
Gcc1	T	C	6: 28,418,786	E516G	probably damaging	Het
Ghr	T	C	15: 3,457,957	T15A	probably benign	Het
Gnb4	G	A	3: 32,596,331	T50M	probably damaging	Het
Grik3	T	C	4: 125,656,397		probably null	Het
Gstk1	T	C	6: 42,247,752	Y135H	probably benign	Het
Gucy2c	T	A	6: 136,708,406	I846F	probably damaging	Het
Itga7	A	G	10: 128,942,966	T321A	probably benign	Het
Jakmip1	A	T	5: 37,175,180	N1068I	probably damaging	Het
Krt36	A	G	11: 100,104,140	I202T	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Mast2	A	G	4: 116,312,873	L741P	probably damaging	Het
Mctp2	T	C	7: 72,127,187	N720S	possibly damaging	Het
Mmp9	A	T	2: 164,949,036	K115*	probably null	Het
Mtf2	C	T	5: 108,080,877	R20*	probably null	Het
Mycbp2	T	G	14: 103,139,415	Q3810P	probably benign	Het
Myom2	A	T	8: 15,108,454	H802L	probably benign	Het
Naa25	A	G	5: 121,407,213	N27D	probably damaging	Het
Necab2	T	C	8: 119,454,364	F126L	probably damaging	Het
Nisch	C	G	14: 31,174,651		probably benign	Het
Nsd2	T	A	5: 33,843,594	S152T	probably damaging	Het
Ntsr1	T	C	2: 180,538,690	L263P	probably damaging	Het
Nup210	A	G	6: 91,018,777	V922A	possibly damaging	Het
Olfr109	T	A	17: 37,467,103	M299K	probably benign	Het
Olfr1175-ps	A	C	2: 88,323,081	I208S	probably benign	Het
Olfr1458	T	A	19: 13,103,053	I84F	probably benign	Het
Pccb	C	A	9: 101,027,084	C144F	probably damaging	Het
Pi16	C	A	17: 29,319,234	P7Q	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Prdm1	A	G	10: 44,458,482	V16A	probably benign	Het
Rad21l	G	T	2: 151,655,125	D356E	probably benign	Het
Rars	A	G	11: 35,819,966	I322T	probably damaging	Het
Retreg2	C	A	1: 75,146,541	P319Q	possibly damaging	Het
Robo2	T	C	16: 73,973,171	Y559C	probably damaging	Het
Ror1	T	C	4: 100,441,367	Y646H	probably damaging	Het
Rrp15	A	G	1: 186,749,176	S45P	probably benign	Het
Sacs	G	C	14: 61,192,203	K570N	probably benign	Het
Serpinb8	C	T	1: 107,606,993	Q265*	probably null	Het
Sgo2b	T	C	8: 63,927,284	E838G	probably damaging	Het
Slc2a12	G	A	10: 22,664,669	R141K	probably damaging	Het
Strc	G	T	2: 121,377,738	T384N	probably benign	Het
Tcaf2	T	C	6: 42,629,099	S547G	possibly damaging	Het
Tekt5	T	C	16: 10,382,928	N243S	possibly damaging	Het
Tgm3	A	G	2: 130,041,899	I492M	probably benign	Het
Tgm7	G	A	2: 121,103,940	T157I	probably benign	Het
Trnp1	C	A	4: 133,498,039	R140L	possibly damaging	Het
Ttn	A	G	2: 76,779,433	V15797A	probably damaging	Het
Ugp2	A	T	11: 21,333,762	S102T	probably benign	Het
Vav2	A	T	2: 27,282,287		probably null	Het
Vmn1r202	T	A	13: 22,502,071	I59F	probably damaging	Het
Zfp109	T	C	7: 24,229,145	T288A	probably benign	Het
Zscan12	T	A	13: 21,369,204	H399Q	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
R0940:Psme4	UTSW	11	30815264	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
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'- ACCTCAGACTTAGGATCTCAGTTC -3'
(R):5'- CAGTTGCAGTAGTAGACAGGTTTC -3'

Sequencing Primer
(F):5'- ATGGACAGTGCTATGCAG -3'
(R):5'- CAGTAGTAGACAGGTTTCTTTGTAC -3'

Posted On

2019-12-03