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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01862

Quality Score

Status

Chromosome

Chromosomal Location

30721726-30830361 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 30762038 bp (GRCm39)

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
Abca8b	G	T	11: 109,837,997 (GRCm39)	S1085*	probably null	Het
Akap9	T	G	5: 4,001,705 (GRCm39)	S94A	probably damaging	Het
Akap9	T	A	5: 4,115,856 (GRCm39)	N3425K	probably damaging	Het
Anapc7	T	A	5: 122,578,182 (GRCm39)	I389N	probably benign	Het
Aqp7	G	A	4: 41,045,321 (GRCm39)	R20*	probably null	Het
Cacna1h	C	T	17: 25,602,457 (GRCm39)	G1524R	probably damaging	Het
Cacng4	T	C	11: 107,685,196 (GRCm39)	Y32C	probably damaging	Het
Cep120	A	C	18: 53,847,839 (GRCm39)	S673R	probably benign	Het
Cep162	T	C	9: 87,135,986 (GRCm39)	E19G	possibly damaging	Het
Cpxm2	C	T	7: 131,661,540 (GRCm39)	V416I	probably benign	Het
Dapk1	A	G	13: 60,874,424 (GRCm39)	T427A	probably benign	Het
Ecm1	A	T	3: 95,641,586 (GRCm39)	D549E	probably benign	Het
Efemp1	T	A	11: 28,871,428 (GRCm39)	N342K	probably damaging	Het
Erc2	T	C	14: 27,993,526 (GRCm39)		probably benign	Het
Fhip2b	C	T	14: 70,825,130 (GRCm39)	R402H	probably benign	Het
Galnt13	T	C	2: 54,747,926 (GRCm39)	V269A	probably damaging	Het
Gm6465	T	G	5: 11,899,020 (GRCm39)	L171R	probably damaging	Het
Gpatch1	A	G	7: 34,994,703 (GRCm39)	V521A	probably benign	Het
Heatr5b	A	T	17: 79,103,914 (GRCm39)	V1087E	possibly damaging	Het
Ikzf2	A	T	1: 69,578,057 (GRCm39)	V484D	probably damaging	Het
Ints4	T	A	7: 97,190,360 (GRCm39)	V953E	probably damaging	Het
Iqce	T	C	5: 140,685,480 (GRCm39)	D15G	possibly damaging	Het
Kif3a	T	A	11: 53,461,368 (GRCm39)	N4K	possibly damaging	Het
Lrch4	A	T	5: 137,635,271 (GRCm39)	I254F	probably damaging	Het
Ly75	A	T	2: 60,129,516 (GRCm39)	V1623D	probably damaging	Het
Mapt	T	A	11: 104,180,828 (GRCm39)		probably benign	Het
Mast1	A	T	8: 85,639,875 (GRCm39)		probably null	Het
Mcc	G	T	18: 44,892,363 (GRCm39)	Q84K	probably benign	Het
Mgat4f	G	A	1: 134,318,349 (GRCm39)	V374I	probably benign	Het
Mtfr2	G	A	10: 20,224,149 (GRCm39)	V28M	probably benign	Het
Myh8	T	A	11: 67,180,520 (GRCm39)	Y585*	probably null	Het
Napsa	T	C	7: 44,231,917 (GRCm39)	V202A	probably damaging	Het
Nsd2	A	G	5: 34,001,080 (GRCm39)	K199R	probably null	Het
Ntpcr	C	T	8: 126,462,837 (GRCm39)	A18V	probably benign	Het
Or2aj4	A	T	16: 19,385,426 (GRCm39)	M69K	probably damaging	Het
Or2g25	G	T	17: 37,970,368 (GRCm39)	N285K	probably damaging	Het
Or56b35	T	A	7: 104,963,439 (GRCm39)	I76N	probably damaging	Het
Or5g9	G	T	2: 85,552,472 (GRCm39)	C241F	probably damaging	Het
Or8b9	A	G	9: 37,766,477 (GRCm39)	D121G	probably damaging	Het
Os9	A	G	10: 126,935,573 (GRCm39)	V299A	probably benign	Het
Pcdhb7	T	C	18: 37,476,915 (GRCm39)	S684P	possibly damaging	Het
Phf19	A	C	2: 34,787,067 (GRCm39)		probably null	Het
Pkd1l3	G	A	8: 110,357,908 (GRCm39)		probably null	Het
Pkhd1	A	G	1: 20,429,134 (GRCm39)	I2422T	probably damaging	Het
Plxna2	T	A	1: 194,326,258 (GRCm39)	V64E	possibly damaging	Het
Ptk6	T	C	2: 180,841,433 (GRCm39)	S159G	probably benign	Het
Rhd	T	C	4: 134,617,650 (GRCm39)	I329T	possibly damaging	Het
Scfd1	A	G	12: 51,492,494 (GRCm39)	Y601C	probably damaging	Het
Shroom3	T	C	5: 93,110,148 (GRCm39)	S1753P	probably damaging	Het
Slc8a1	A	C	17: 81,749,630 (GRCm39)		probably null	Het
Spg7	T	A	8: 123,803,669 (GRCm39)	L233Q	probably damaging	Het
Strip1	C	A	3: 107,529,198 (GRCm39)	R353L	probably damaging	Het
Ubr1	T	C	2: 120,764,823 (GRCm39)	N544D	possibly damaging	Het
Ubr4	A	G	4: 139,204,469 (GRCm39)	T4794A	possibly damaging	Het
Usp24	A	G	4: 106,266,095 (GRCm39)		probably benign	Het
Vmn1r193	A	T	13: 22,403,984 (GRCm39)	C3S	probably benign	Het
Yju2b	G	T	8: 84,987,163 (GRCm39)		probably benign	Het
Zdhhc5	C	T	2: 84,520,836 (GRCm39)	R447H	probably benign	Het
Zfp202	A	G	9: 40,123,124 (GRCm39)	I629V	probably benign	Het
Zfp462	T	A	4: 55,023,441 (GRCm39)	C990S	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
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
R0940:Psme4	UTSW	11	30,765,264 (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

Posted On

2014-05-07