Mutagenetix > Incidental Mutation

Incidental Mutation 'R6004:Psme4'

478524

Institutional Source

Beutler Lab

Gene Symbol

Psme4

Ensembl Gene

ENSMUSG00000040850

Gene Name

proteasome (prosome, macropain) activator subunit 4

Synonyms

MMRRC Submission

044182-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30721726-30830361 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 30806896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041231] [ENSMUST00000129824]

AlphaFold

Q5SSW2

Predicted Effect

probably benign
Transcript: ENSMUST00000041231

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850

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

unknown
Transcript: ENSMUST00000129824
AA Change: M107K

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 96.8%
20x: 89.1%

Validation Efficiency

98% (55/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	C	T	3: 97,082,997 (GRCm39)	A336V	probably benign	Het
Adam5	T	A	8: 25,271,685 (GRCm39)	Y574F	probably benign	Het
Arl6	A	T	16: 59,444,257 (GRCm39)	W80R	probably damaging	Het
Bmal1	A	T	7: 112,879,934 (GRCm39)	D22V	probably damaging	Het
Cars2	A	G	8: 11,597,743 (GRCm39)	I111T	probably damaging	Het
Chrd	T	C	16: 20,553,987 (GRCm39)	L317S	possibly damaging	Het
Cyp4a12b	A	G	4: 115,290,664 (GRCm39)	D262G	probably benign	Het
Dcaf6	A	G	1: 165,216,254 (GRCm39)	S450P	probably benign	Het
Dnah3	T	C	7: 119,685,520 (GRCm39)	D164G	probably benign	Het
Gpx6	A	C	13: 21,503,239 (GRCm39)	T218P	probably benign	Het
Htr1f	T	C	16: 64,746,239 (GRCm39)	N351S	probably damaging	Het
Idua	A	G	5: 108,828,510 (GRCm39)	E241G	probably benign	Het
Ighv14-2	T	A	12: 113,958,255 (GRCm39)	Q62L	probably damaging	Het
Ighv1-65	C	T	12: 115,496,056 (GRCm39)		noncoding transcript	Het
Inpp4a	T	C	1: 37,411,451 (GRCm39)	S372P	probably damaging	Het
Itgax	A	T	7: 127,730,624 (GRCm39)	H114L	probably damaging	Het
Lama2	A	T	10: 27,111,781 (GRCm39)	F746L	probably benign	Het
Lrrc37a	C	T	11: 103,393,362 (GRCm39)	V688M	possibly damaging	Het
Ltbp2	A	G	12: 84,922,923 (GRCm39)	V28A	probably benign	Het
Mill2	A	T	7: 18,590,463 (GRCm39)	D166V	probably benign	Het
Mroh2a	G	A	1: 88,176,377 (GRCm39)	C982Y	probably damaging	Het
Msh3	T	A	13: 92,478,922 (GRCm39)		probably null	Het
Myh15	A	T	16: 48,980,062 (GRCm39)	M1395L	probably benign	Het
Npepps	T	C	11: 97,113,950 (GRCm39)	E642G	probably benign	Het
Nrg4	T	C	9: 55,166,667 (GRCm39)	T68A	possibly damaging	Het
Or10ag60	T	A	2: 87,438,253 (GRCm39)	F174I	probably damaging	Het
Or4b1d	T	C	2: 89,969,343 (GRCm39)	N47D	probably benign	Het
Or4f60	G	T	2: 111,902,371 (GRCm39)	L186I	probably damaging	Het
Or6c66b	T	A	10: 129,376,759 (GRCm39)	Y118N	probably benign	Het
Or8b41	A	G	9: 38,055,256 (GRCm39)	K270R	probably damaging	Het
Or9g20	A	T	2: 85,629,726 (GRCm39)	V296E	probably damaging	Het
Otogl	T	A	10: 107,715,390 (GRCm39)	I429F	probably damaging	Het
Pank4	G	T	4: 155,061,678 (GRCm39)	G532C	probably damaging	Het
Plce1	A	G	19: 38,710,315 (GRCm39)	T1150A	probably damaging	Het
Ppp2r2b	T	C	18: 43,192,224 (GRCm39)		probably null	Het
Prkrip1	A	G	5: 136,226,636 (GRCm39)	M68T	probably damaging	Het
Raet1d	T	A	10: 22,247,293 (GRCm39)	I123N	probably damaging	Het
Rp1	T	G	1: 4,267,808 (GRCm39)	T825P	unknown	Het
Rttn	T	C	18: 89,039,816 (GRCm39)	I839T	probably damaging	Het
Sgo2b	G	A	8: 64,379,707 (GRCm39)	Q1042*	probably null	Het
Skint11	A	G	4: 114,088,925 (GRCm39)	T240A	probably benign	Het
Speg	A	T	1: 75,392,247 (GRCm39)	K1382*	probably null	Het
Srsf7	A	T	17: 80,513,282 (GRCm39)	D68E	probably damaging	Het
Stag3	A	T	5: 138,287,468 (GRCm39)	D131V	probably damaging	Het
Strip2	T	A	6: 29,926,570 (GRCm39)	C152S	probably damaging	Het
Timm44	G	T	8: 4,317,747 (GRCm39)	D191E	probably benign	Het
Tlnrd1	A	G	7: 83,531,987 (GRCm39)	V148A	probably damaging	Het
Trp63	T	C	16: 25,582,146 (GRCm39)		probably null	Het
Tusc3	G	C	8: 39,538,560 (GRCm39)	G200R	probably damaging	Het
Vmn2r10	T	G	5: 109,146,944 (GRCm39)	N448T	probably benign	Het
Vmn2r50	G	A	7: 9,783,986 (GRCm39)	R163C	probably benign	Het
Vmn2r53	T	C	7: 12,316,328 (GRCm39)	H497R	probably benign	Het
Vps39	A	G	2: 120,176,131 (GRCm39)	V83A	possibly damaging	Het
Ylpm1	A	T	12: 85,075,858 (GRCm39)	N861I	possibly damaging	Het
Zfp712	A	G	13: 67,189,769 (GRCm39)	C253R	probably damaging	Het
Zfp930	A	G	8: 69,680,556 (GRCm39)	T84A	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATTGAAAATATGTTGCAGATATGCA -3'
(R):5'- GAAAACTACAGGCGGGAAATTATT -3'

Sequencing Primer
(F):5'- CCATTATCCTCATGGTAGGGAGC -3'
(R):5'- TGGCTCATGCCAGTAATC -3'

Posted On

2017-06-26