Mutagenetix > Incidental Mutation

Incidental Mutation 'R8743:Psme4'

663366

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 #

R8743 (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 G at 30878467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 1829 (L1829R)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000041231
AA Change: L1829R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: L1829R

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: 99.2%
20x: 96.7%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,030	H121R	probably benign	Het
4930430A15Rik	T	C	2: 111,169,672	T198A	unknown	Het
Adam5	A	T	8: 24,786,248	C468S	probably damaging	Het
Adamts7	G	A	9: 90,195,243	R1321H	probably damaging	Het
Adra2c	T	C	5: 35,280,448	V188A	possibly damaging	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Ap1g1	A	G	8: 109,837,791	N323D	probably damaging	Het
Arhgap15	A	T	2: 43,748,864		probably benign	Het
Arhgef33	T	C	17: 80,360,453		probably null	Het
Armc1	C	T	3: 19,157,536	C40Y	probably benign	Het
Arsk	C	A	13: 76,066,809	V309F	probably damaging	Het
Atp4b	A	T	8: 13,393,489	M63K	probably damaging	Het
Cacna1s	T	C	1: 136,105,548	L1237P	probably damaging	Het
Ccnt2	A	G	1: 127,774,283	E19G	probably damaging	Het
Ccr2	A	C	9: 124,106,094	Y137S	probably damaging	Het
Cdc40	C	T	10: 40,841,484	D404N	probably damaging	Het
Cfh	A	T	1: 140,118,585		probably null	Het
Chd5	T	A	4: 152,366,405	V662E	probably benign	Het
Cnga4	A	G	7: 105,408,013	D544G	probably benign	Het
Col6a3	C	G	1: 90,767,606		probably benign	Het
Coro6	T	A	11: 77,466,439	I158N	probably damaging	Het
Cpa1	A	G	6: 30,642,993	S307G	probably damaging	Het
Depdc5	T	A	5: 32,924,243	M583K	probably benign	Het
Dock2	G	T	11: 34,273,252	S1170*	probably null	Het
Dusp16	A	T	6: 134,717,970	S633T	probably benign	Het
Esco1	T	C	18: 10,572,123	E739G	probably damaging	Het
Fam193a	T	A	5: 34,420,157		probably null	Het
Fam71e2	T	A	7: 4,757,815	T633S		Het
Fat4	G	A	3: 38,888,443	S495N	probably benign	Het
Galnt10	A	G	11: 57,784,583	Y556C	probably damaging	Het
Gc	A	T	5: 89,443,452	D142E	probably benign	Het
Gda	A	T	19: 21,400,588	F369Y	probably damaging	Het
Glce	A	T	9: 62,060,821	S349R	probably benign	Het
Glp2r	A	G	11: 67,722,075	L351P	probably damaging	Het
Gtf2h5	C	CA	17: 6,084,558		probably null	Het
Gxylt2	A	T	6: 100,787,323	Y323F	probably benign	Het
Hmmr	T	C	11: 40,708,031	N589D	probably damaging	Het
Hsd17b3	A	C	13: 64,062,898	D214E	probably benign	Het
Kat6a	A	G	8: 22,939,006	D1459G	possibly damaging	Het
Lad1	G	A	1: 135,831,195	R465H	probably benign	Het
Lcmt1	T	A	7: 123,400,468	D46E	probably damaging	Het
Map4k1	G	A	7: 28,987,117	D155N	probably damaging	Het
Mylk	G	T	16: 34,921,057	R796L	probably benign	Het
Nat8l	T	A	5: 33,997,166	L108Q	probably damaging	Het
Nlrp5	T	C	7: 23,418,747	V632A	probably benign	Het
Nr3c2	A	G	8: 76,909,758	E496G	probably damaging	Het
Nucb2	A	G	7: 116,528,830	D258G	probably damaging	Het
Olfr874	G	T	9: 37,746,878	C248F	probably benign	Het
Olfr923	A	T	9: 38,827,699	I3F	probably benign	Het
Papln	A	G	12: 83,782,990	K962E	probably damaging	Het
Pcdha8	T	A	18: 36,994,319	M618K	probably benign	Het
Pclo	A	G	5: 14,714,566	D1066G		Het
Phip	A	T	9: 82,927,087	M446K	probably benign	Het
Pkn3	A	G	2: 30,083,306	K380R	probably benign	Het
Ppa1	C	A	10: 61,660,979	A82E	possibly damaging	Het
Prune2	A	C	19: 17,119,556	D808A	probably benign	Het
Rtp4	A	C	16: 23,613,116	K133Q	possibly damaging	Het
Scaf11	C	T	15: 96,415,788	A1371T	probably benign	Het
Serpinb9g	A	T	13: 33,494,948	H267L	probably benign	Het
Slc47a2	T	G	11: 61,342,762	D6A	probably benign	Het
Slco1a4	A	T	6: 141,819,529	V329D	possibly damaging	Het
Smg6	T	C	11: 74,930,033	S377P	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,317,519		probably benign	Het
Taar2	A	T	10: 23,941,471	Y303F	probably damaging	Het
Tgm6	A	G	2: 130,143,498	D407G	probably damaging	Het
Twf2	A	G	9: 106,212,811	E153G	possibly damaging	Het
Upb1	A	G	10: 75,439,876	Y365C	probably damaging	Het
Vmn2r4	A	T	3: 64,409,826	S164T	possibly damaging	Het
Wtip	C	T	7: 34,125,554	G202R	possibly damaging	Het
Zfhx4	G	A	3: 5,244,024	C770Y	probably damaging	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
R7651:Psme4	UTSW	11	30837334	missense	probably damaging	0.98
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
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'- ACATTGTGAGAGCTGAGGTC -3'
(R):5'- GTCTCATCTTTGCTAAATTTGGGC -3'

Sequencing Primer
(F):5'- AGGTCTAGGTGGATACTAGTGTAAC -3'
(R):5'- GTGACACATAGCTGCAATCCTAGTG -3'

Posted On

2021-03-08