Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01862:Psme4'

178366

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 #

IGL01862

Quality Score

Status

Chromosome

Chromosomal Location

30771726-30880361 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 30812038 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 459 (C459*)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably null
Transcript: ENSMUST00000041231
AA Change: C459*

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: C459*

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	G	A	1: 134,390,611	V374I	probably benign	Het
Abca8b	G	T	11: 109,947,171	S1085*	probably null	Het
Akap9	T	G	5: 3,951,705	S94A	probably damaging	Het
Akap9	T	A	5: 4,065,856	N3425K	probably damaging	Het
Anapc7	T	A	5: 122,440,119	I389N	probably benign	Het
Aqp7	G	A	4: 41,045,321	R20*	probably null	Het
Cacna1h	C	T	17: 25,383,483	G1524R	probably damaging	Het
Cacng4	T	C	11: 107,794,370	Y32C	probably damaging	Het
Ccdc130	G	T	8: 84,260,534		probably benign	Het
Cep120	A	C	18: 53,714,767	S673R	probably benign	Het
Cep162	T	C	9: 87,253,933	E19G	possibly damaging	Het
Cpxm2	C	T	7: 132,059,811	V416I	probably benign	Het
Dapk1	A	G	13: 60,726,610	T427A	probably benign	Het
Ecm1	A	T	3: 95,734,273	D549E	probably benign	Het
Efemp1	T	A	11: 28,921,428	N342K	probably damaging	Het
Erc2	T	C	14: 28,271,569		probably benign	Het
Fam160b2	C	T	14: 70,587,690	R402H	probably benign	Het
Galnt13	T	C	2: 54,857,914	V269A	probably damaging	Het
Gm6465	T	G	5: 11,849,053	L171R	probably damaging	Het
Gpatch1	A	G	7: 35,295,278	V521A	probably benign	Het
Heatr5b	A	T	17: 78,796,485	V1087E	possibly damaging	Het
Ikzf2	A	T	1: 69,538,898	V484D	probably damaging	Het
Ints4	T	A	7: 97,541,153	V953E	probably damaging	Het
Iqce	T	C	5: 140,699,725	D15G	possibly damaging	Het
Kif3a	T	A	11: 53,570,541	N4K	possibly damaging	Het
Lrch4	A	T	5: 137,637,009	I254F	probably damaging	Het
Ly75	A	T	2: 60,299,172	V1623D	probably damaging	Het
Mapt	T	A	11: 104,290,002		probably benign	Het
Mast1	A	T	8: 84,913,246		probably null	Het
Mcc	G	T	18: 44,759,296	Q84K	probably benign	Het
Mtfr2	G	A	10: 20,348,403	V28M	probably benign	Het
Myh8	T	A	11: 67,289,694	Y585*	probably null	Het
Napsa	T	C	7: 44,582,493	V202A	probably damaging	Het
Nsd2	A	G	5: 33,843,736	K199R	probably null	Het
Ntpcr	C	T	8: 125,736,098	A18V	probably benign	Het
Olfr1009	G	T	2: 85,722,128	C241F	probably damaging	Het
Olfr117	G	T	17: 37,659,477	N285K	probably damaging	Het
Olfr169	A	T	16: 19,566,676	M69K	probably damaging	Het
Olfr689	T	A	7: 105,314,232	I76N	probably damaging	Het
Olfr877	A	G	9: 37,855,181	D121G	probably damaging	Het
Os9	A	G	10: 127,099,704	V299A	probably benign	Het
Pcdhb7	T	C	18: 37,343,862	S684P	possibly damaging	Het
Phf19	A	C	2: 34,897,055		probably null	Het
Pkd1l3	G	A	8: 109,631,276		probably null	Het
Pkhd1	A	G	1: 20,358,910	I2422T	probably damaging	Het
Plxna2	T	A	1: 194,643,950	V64E	possibly damaging	Het
Ptk6	T	C	2: 181,199,640	S159G	probably benign	Het
Rhd	T	C	4: 134,890,339	I329T	possibly damaging	Het
Scfd1	A	G	12: 51,445,711	Y601C	probably damaging	Het
Shroom3	T	C	5: 92,962,289	S1753P	probably damaging	Het
Slc8a1	A	C	17: 81,442,201		probably null	Het
Spg7	T	A	8: 123,076,930	L233Q	probably damaging	Het
Strip1	C	A	3: 107,621,882	R353L	probably damaging	Het
Ubr1	T	C	2: 120,934,342	N544D	possibly damaging	Het
Ubr4	A	G	4: 139,477,158	T4794A	possibly damaging	Het
Usp24	A	G	4: 106,408,898		probably benign	Het
Vmn1r193	A	T	13: 22,219,814	C3S	probably benign	Het
Zdhhc5	C	T	2: 84,690,492	R447H	probably benign	Het
Zfp202	A	G	9: 40,211,828	I629V	probably benign	Het
Zfp462	T	A	4: 55,023,441	C990S	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
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
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

2014-05-07