Mutagenetix > Incidental Mutation

Incidental Mutation 'R7651:Psme4'

590862

Institutional Source

Beutler Lab

Gene Symbol

Psme4

Ensembl Gene

ENSMUSG00000040850

Gene Name

proteasome (prosome, macropain) activator subunit 4

Synonyms

MMRRC Submission

Accession Numbers

Genbank: NM_134013

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7651 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30771726-30880361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30837334 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1043 (L1043H)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000041231
AA Change: L1043H

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: L1043H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,293,362	V302G		Het
A230072I06Rik	T	C	8: 12,279,689	I48T	unknown	Het
A430089I19Rik	T	C	5: 94,303,377	T297A	probably benign	Het
Ada	T	A	2: 163,732,355	D127V	probably damaging	Het
Alb	G	C	5: 90,467,355	R242P	probably damaging	Het
Ankrd34c	T	C	9: 89,729,410	R293G	possibly damaging	Het
Ap2b1	T	C	11: 83,339,430		probably null	Het
Arhgef16	A	G	4: 154,291,067	S157P	probably damaging	Het
Atp2b1	C	T	10: 99,016,968	L1036F	probably damaging	Het
Ccdc27	A	T	4: 154,028,099	I573N	probably damaging	Het
Cep164	T	C	9: 45,773,852	E869G	probably benign	Het
Colq	A	T	14: 31,528,335	V381D	possibly damaging	Het
Drc1	A	G	5: 30,359,614	E519G	probably benign	Het
Drosha	G	A	15: 12,859,436	V577I	probably benign	Het
Epg5	C	T	18: 77,981,400	Q1157*	probably null	Het
Eqtn	T	C	4: 94,923,707	S150G	possibly damaging	Het
Fam216a	G	A	5: 122,367,382	H172Y	probably damaging	Het
Fbxw19	T	A	9: 109,494,646	D87V	probably damaging	Het
Fgr	A	T	4: 132,995,013	I198F	probably damaging	Het
Flnc	A	G	6: 29,444,050	D621G	probably benign	Het
Flt3	A	C	5: 147,354,922	Y573D	probably damaging	Het
Git2	A	T	5: 114,733,235	I603N	probably damaging	Het
Gm4559	C	T	7: 142,273,816	R183K	unknown	Het
Gnb5	T	C	9: 75,343,571	F326L	probably damaging	Het
Grm8	A	T	6: 27,760,258	W358R	possibly damaging	Het
Grrp1	C	T	4: 134,251,648	R173H	probably damaging	Het
Hoxa3	A	G	6: 52,172,273	V126A	unknown	Het
Hras	T	C	7: 141,192,151	T144A	possibly damaging	Het
Hyal1	G	A	9: 107,578,370	R293H	probably damaging	Het
Ifnlr1	A	G	4: 135,690,608	S49G	possibly damaging	Het
Ighv8-11	C	A	12: 115,567,385	C41F	probably benign	Het
Jakmip1	A	G	5: 37,134,273	T689A	probably damaging	Het
Kcnb1	T	C	2: 167,188,361	H88R	probably damaging	Het
Kcnt2	T	A	1: 140,570,461	M892K	probably benign	Het
Lrba	C	A	3: 86,741,466	S2507*	probably null	Het
Mbp	C	T	18: 82,554,374	T65I	probably damaging	Het
Muc2	A	T	7: 141,704,201	Y12F		Het
Muc4	T	A	16: 32,756,575	S80T		Het
Muc5ac	A	G	7: 141,796,254	D579G	possibly damaging	Het
Muc5b	A	G	7: 141,864,023	T3569A	possibly damaging	Het
Myb	C	T	10: 21,156,374	R36H	probably damaging	Het
Myo6	T	C	9: 80,264,266		probably null	Het
Ogfod1	T	C	8: 94,037,353	V22A	probably benign	Het
Orai3	A	G	7: 127,774,064	I246V	probably damaging	Het
Otog	A	G	7: 46,241,761	M68V	probably benign	Het
Pcdh20	T	A	14: 88,469,153	D237V	probably damaging	Het
Pcdhb18	T	C	18: 37,490,993	F459L	probably benign	Het
Pik3c2g	C	T	6: 139,622,072	T62M	possibly damaging	Het
Plaa	T	C	4: 94,582,639	Y420C	probably damaging	Het
Ppp1r9b	C	T	11: 95,001,942	A656V	probably benign	Het
Prg4	T	A	1: 150,454,945	E659V	unknown	Het
Prlhr	C	A	19: 60,467,145	A328S	probably benign	Het
Prlr	A	T	15: 10,328,378	D313V	probably benign	Het
Prune2	C	T	19: 17,120,408	T1092I	probably damaging	Het
Ptprr	T	C	10: 116,251,179	V521A	probably benign	Het
Rab44	A	T	17: 29,148,205	D703V	unknown	Het
Rpl9-ps1	A	T	11: 83,645,085	Y179*	probably null	Het
Scg3	T	A	9: 75,682,050	N107I	probably benign	Het
Sh3bgrl2	T	C	9: 83,548,472	V5A	possibly damaging	Het
Slc7a12	T	C	3: 14,481,449	V218A	probably benign	Het
Sorcs2	A	G	5: 36,027,978	L918P	probably damaging	Het
Sox1	C	A	8: 12,396,686	A109E	probably damaging	Het
Syne1	T	A	10: 5,205,074	M5622L	probably benign	Het
Syne1	A	T	10: 5,343,416	L1305Q	probably damaging	Het
Tacc2	A	T	7: 130,623,154	H523L	probably benign	Het
Tas1r2	A	T	4: 139,669,627	D788V	probably benign	Het
Tcl1b5	T	A	12: 105,176,435	D7E	possibly damaging	Het
Tesc	A	G	5: 118,056,601	D159G	possibly damaging	Het
Tm2d2	G	T	8: 25,017,300		probably benign	Het
Tnfrsf11a	T	A	1: 105,809,446	C93S	probably damaging	Het
Tnfsf4	T	C	1: 161,417,022	V94A	probably benign	Het
Trav13n-3	T	A	14: 53,337,507	Y69N	probably benign	Het
Utp20	T	C	10: 88,754,595	D2339G	probably benign	Het
Vmn1r225	A	G	17: 20,502,349	I17M	possibly damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r114	G	T	17: 23,291,012	Y831*	probably null	Het
Vmn2r72	T	A	7: 85,751,938	N91I	probably damaging	Het
Zfp846	T	C	9: 20,588,512	S13P	possibly damaging	Het
Zfp934	G	T	13: 62,518,513	N116K	probably benign	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
IGL01862:Psme4	APN	11	30812038	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GGTCCACTTGCTTATACCTCAAG -3'
(R):5'- ATGACCTGACTCATCCCCAG -3'

Sequencing Primer
(F):5'- TGCTTATACCTCAAGTTCCTGG -3'
(R):5'- TGACTCATCCCCAGACACATTC -3'

Posted On

2019-10-24