Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02608:Psme4'

300377

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Psme4

Ensembl Gene

ENSMUSG00000040850

Gene Name

proteasome (prosome, macropain) activator subunit 4

Synonyms

Accession Numbers

Genbank: NM_134013

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02608

Quality Score

Status

Chromosome

Chromosomal Location

30771726-30880361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30820944 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 764 (N764S)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably benign
Transcript: ENSMUST00000041231
AA Change: N764S

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: N764S

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: ENSMUST00000121892

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	T	A	15: 102,339,192	M415L	probably benign	Het
Akap6	T	C	12: 53,010,606	S952P	probably benign	Het
Aldh3a1	A	G	11: 61,216,321	R284G	probably damaging	Het
Aldh3b1	G	T	19: 3,914,061	H414N	probably damaging	Het
Chd5	G	A	4: 152,356,107	M141I	possibly damaging	Het
Cntn2	C	T	1: 132,525,916	A340T	possibly damaging	Het
Daw1	T	A	1: 83,209,334	C288*	probably null	Het
Dcn	A	G	10: 97,483,457	E32G	probably damaging	Het
Dock5	C	T	14: 67,828,439	V372M	probably benign	Het
Etf1	T	C	18: 34,931,617	E13G	probably damaging	Het
Filip1l	A	G	16: 57,572,106	E781G	probably benign	Het
Gm8989	T	A	7: 106,329,669		noncoding transcript	Het
Gucy1a2	A	G	9: 3,635,113	I386V	probably damaging	Het
Hoxb5	T	A	11: 96,305,143		probably benign	Het
Iqch	T	A	9: 63,421,828		probably benign	Het
Itgal	C	T	7: 127,310,244	P423S	probably damaging	Het
Kti12	T	G	4: 108,848,162	L91R	probably damaging	Het
Lgals3	T	C	14: 47,385,601	M239T	probably benign	Het
Lrrc8a	T	C	2: 30,256,299	M375T	possibly damaging	Het
Ly75	T	C	2: 60,321,900	E1103G	probably benign	Het
Lyst	A	T	13: 13,712,754	E3056V	probably damaging	Het
Map3k7	T	C	4: 31,981,452		probably benign	Het
Ncor1	G	A	11: 62,373,214	T180I	probably benign	Het
Nectin4	T	C	1: 171,384,773	V313A	probably benign	Het
Nol4l	A	G	2: 153,436,293	S8P	possibly damaging	Het
Npas2	T	A	1: 39,345,446	S607T	probably benign	Het
Nup155	T	A	15: 8,109,471	M9K	probably benign	Het
Nwd1	T	C	8: 72,667,375	L422P	probably damaging	Het
Olfr114	T	A	17: 37,590,219	I45F	probably damaging	Het
Papola	G	T	12: 105,809,559	G245C	probably damaging	Het
Pcdhb6	T	C	18: 37,334,694	S223P	probably damaging	Het
Pdcd4	T	C	19: 53,927,207		probably null	Het
Pigg	T	C	5: 108,313,003	F27L	probably damaging	Het
Prpf40a	A	T	2: 53,146,153	M588K	probably damaging	Het
Ptar1	A	C	19: 23,705,712	E110A	possibly damaging	Het
Rbm12	A	T	2: 156,095,898		probably benign	Het
Rfx7	A	G	9: 72,617,294	T589A	probably benign	Het
Rpl21-ps4	G	T	14: 11,227,831		noncoding transcript	Het
Rpp38	T	C	2: 3,329,161	T235A	probably benign	Het
Sbno2	A	T	10: 80,067,402		probably null	Het
Scn3a	A	T	2: 65,524,166	C337*	probably null	Het
Sec61a2	T	C	2: 5,874,262	T312A	probably benign	Het
Snrpg	C	A	6: 86,376,568	D43E	probably damaging	Het
Stag1	A	T	9: 100,757,769	Q126L	probably null	Het
Taar6	A	G	10: 23,985,183	V155A	probably benign	Het
Tet1	G	A	10: 62,879,609	H136Y	possibly damaging	Het
Tet1	C	A	10: 62,839,087	S1070I	probably damaging	Het
Tfcp2	T	C	15: 100,514,110	T327A	possibly damaging	Het
Tnfrsf13c	C	T	15: 82,223,163	V144M	probably damaging	Het
Tnfrsf22	T	A	7: 143,644,796	K61*	probably null	Het
Trhr	T	C	15: 44,197,678	V198A	probably benign	Het
Trp53inp2	A	G	2: 155,386,649	R175G	probably damaging	Het
Try10	G	A	6: 41,355,487	G26R	probably damaging	Het
Vmn1r205	A	G	13: 22,592,200	V244A	probably damaging	Het
Wrnip1	T	A	13: 32,806,874	L372H	probably damaging	Het
Zfp280d	T	A	9: 72,307,979	L149Q	probably damaging	Het
Zfp445	A	G	9: 122,861,875	V85A	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
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
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

Posted On

2015-04-16