Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00576:Psme4'

4621

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 #

IGL00576

Quality Score

Status

Chromosome

Chromosomal Location

30721726-30830361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30773145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 836 (V836A)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041231
AA Change: V836A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: V836A

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak8	T	C	2: 28,632,729 (GRCm39)	L316P	probably damaging	Het
Ampd3	C	T	7: 110,388,028 (GRCm39)		probably benign	Het
Arhgap42	C	A	9: 8,997,621 (GRCm39)	E835*	probably null	Het
Arid2	G	A	15: 96,254,639 (GRCm39)	V162M	probably damaging	Het
Atp2a2	C	T	5: 122,596,146 (GRCm39)		probably null	Het
Bmper	A	G	9: 23,317,899 (GRCm39)	D506G	probably damaging	Het
Clca4b	A	G	3: 144,631,108 (GRCm39)	F251L	probably damaging	Het
Col12a1	T	C	9: 79,554,934 (GRCm39)	D2048G	probably damaging	Het
Dnhd1	G	A	7: 105,341,882 (GRCm39)	S1227N	probably damaging	Het
Dpp8	T	A	9: 64,951,111 (GRCm39)	H182Q	probably benign	Het
Drosha	A	G	15: 12,883,280 (GRCm39)	K798E	probably damaging	Het
Gbp8	A	G	5: 105,165,754 (GRCm39)		probably benign	Het
Hectd1	A	G	12: 51,806,092 (GRCm39)	I1843T	probably damaging	Het
Kansl1l	T	C	1: 66,763,733 (GRCm39)	N772S	possibly damaging	Het
Lrrc37	A	G	11: 103,508,212 (GRCm39)		probably benign	Het
Ndst2	T	C	14: 20,774,552 (GRCm39)	R835G	probably benign	Het
Ptpn21	G	A	12: 98,699,860 (GRCm39)	S18F	probably damaging	Het
Reln	T	C	5: 22,359,948 (GRCm39)	H192R	probably benign	Het
Tcf20	A	G	15: 82,740,276 (GRCm39)	F392L	probably damaging	Het
Ttc21a	T	C	9: 119,794,885 (GRCm39)	F1024L	probably damaging	Het
Vezf1	T	A	11: 87,964,470 (GRCm39)	C19*	probably null	Het
Wdr47	A	G	3: 108,526,050 (GRCm39)	N191S	probably benign	Het
Zfp7	T	G	15: 76,775,101 (GRCm39)		probably benign	Het
Zfp933	A	T	4: 147,910,778 (GRCm39)	C273S	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
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
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

2012-04-20