Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02964:Psme4'

365485

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 #

IGL02964

Quality Score

Status

Chromosome

Chromosomal Location

30721726-30830361 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 30741095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 90 (Y90*)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably null
Transcript: ENSMUST00000041231
AA Change: Y82*

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: Y82*

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

probably null
Transcript: ENSMUST00000154757
AA Change: Y90*

SMART Domains

Protein: ENSMUSP00000119133
Gene: ENSMUSG00000040850
AA Change: Y90*

Domain	Start	End	E-Value	Type
low complexity region	131	142	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,242,636 (GRCm39)	I1364V	possibly damaging	Het
Adamts19	T	A	18: 59,122,037 (GRCm39)	I813K	probably damaging	Het
Adamtsl1	G	T	4: 86,342,594 (GRCm39)	C1703F	probably damaging	Het
Atp2b4	T	A	1: 133,658,303 (GRCm39)	T536S	probably damaging	Het
Capg	T	A	6: 72,539,827 (GRCm39)	I340N	probably damaging	Het
Casc3	T	A	11: 98,719,749 (GRCm39)	M567K	probably damaging	Het
Chmp1a	T	C	8: 123,934,806 (GRCm39)	E50G	probably damaging	Het
Cryba1	T	C	11: 77,610,207 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,965,735 (GRCm39)	Y2356N	probably damaging	Het
Ercc6	T	G	14: 32,292,060 (GRCm39)	S1141R	probably benign	Het
Exd2	T	A	12: 80,527,302 (GRCm39)	V165D	probably damaging	Het
Fbln1	A	T	15: 85,115,663 (GRCm39)	E233V	probably damaging	Het
Ftsj3	T	C	11: 106,143,163 (GRCm39)	K384E	probably damaging	Het
Ggt5	A	G	10: 75,439,962 (GRCm39)	I188V	probably benign	Het
Gm42742	A	T	7: 126,616,018 (GRCm39)	S26T	probably damaging	Het
Gucy1a2	T	A	9: 3,759,542 (GRCm39)	D449E	probably damaging	Het
Igfbp7	C	T	5: 77,499,188 (GRCm39)	S239N	possibly damaging	Het
Klf11	C	T	12: 24,705,626 (GRCm39)	A360V	probably damaging	Het
Kmt2e	T	A	5: 23,672,098 (GRCm39)		probably benign	Het
Magea8	A	T	X: 153,769,678 (GRCm39)	C144S	probably damaging	Het
Med4	A	G	14: 73,755,361 (GRCm39)	Q223R	probably damaging	Het
Mmd2	G	T	5: 142,555,232 (GRCm39)	F153L	probably damaging	Het
Nav3	C	A	10: 109,572,814 (GRCm39)	R1615L	probably damaging	Het
Nisch	A	G	14: 30,902,769 (GRCm39)		probably benign	Het
Nr1i3	A	T	1: 171,041,964 (GRCm39)	Y16F	probably benign	Het
Or5w1	C	A	2: 87,487,058 (GRCm39)	C69F	probably damaging	Het
Or7e169	G	A	9: 19,757,550 (GRCm39)	R122*	probably null	Het
Or7g16	A	G	9: 18,727,024 (GRCm39)	C189R	probably damaging	Het
Or8g34	A	G	9: 39,373,077 (GRCm39)	T117A	possibly damaging	Het
Ppil6	C	A	10: 41,383,479 (GRCm39)	H252N	probably benign	Het
Ppp6r2	C	T	15: 89,143,378 (GRCm39)	P175L	probably damaging	Het
Rbm20	C	A	19: 53,802,133 (GRCm39)	L214I	probably benign	Het
Rhox2f	T	C	X: 36,753,334 (GRCm39)	V24A	probably benign	Het
Scnm1	T	C	3: 95,040,348 (GRCm39)	K96E	probably benign	Het
Sec16a	A	C	2: 26,309,735 (GRCm39)	D2090E	probably benign	Het
Smg6	T	C	11: 74,821,576 (GRCm39)		probably null	Het
Snx2	T	C	18: 53,327,630 (GRCm39)	S119P	probably benign	Het
Stam	A	G	2: 14,120,779 (GRCm39)		probably benign	Het
Sult2b1	T	A	7: 45,384,698 (GRCm39)	E126V	probably benign	Het
Tor1aip1	T	C	1: 155,911,590 (GRCm39)	E131G	probably damaging	Het
Ttn	C	T	2: 76,619,040 (GRCm39)	C14367Y	probably damaging	Het
Ubr4	T	C	4: 139,135,131 (GRCm39)	F821S	possibly damaging	Het
Vmn1r32	T	C	6: 66,529,922 (GRCm39)	N285D	probably benign	Het
Vmn2r23	T	C	6: 123,718,741 (GRCm39)	L698P	possibly damaging	Het
Wnt8a	T	A	18: 34,675,474 (GRCm39)	L18Q	possibly damaging	Het
Zfp747	T	C	7: 126,973,666 (GRCm39)	E168G	probably benign	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
IGL01862:Psme4	APN	11	30,762,038 (GRCm39)	nonsense	probably null
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
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

2015-12-18