Mutagenetix > Incidental Mutation

Incidental Mutation 'R1732:Psme4'

199407

Institutional Source

Beutler Lab

Gene Symbol

Psme4

Ensembl Gene

ENSMUSG00000040850

Gene Name

proteasome (prosome, macropain) activator subunit 4

Synonyms

MMRRC Submission

039764-MU

Accession Numbers

Genbank: NM_134013

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30771726-30880361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30848105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1366 (R1366H)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably benign
Transcript: ENSMUST00000041231
AA Change: R1366H

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: R1366H

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 benign
Transcript: ENSMUST00000129824

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (78/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	A	12: 71,219,221	Q1445K	probably benign	Het
Acacb	A	T	5: 114,190,087	M303L	possibly damaging	Het
Actl9	T	C	17: 33,433,122	V52A	probably damaging	Het
Adam7	T	C	14: 68,498,450	T781A	probably benign	Het
Agpat4	T	C	17: 12,216,728	V293A	probably benign	Het
Ank1	T	A	8: 23,111,463		probably benign	Het
Atp1a1	C	A	3: 101,584,799	G587V	probably damaging	Het
Avpr1b	T	C	1: 131,600,254	F172L	probably damaging	Het
Bmp1	A	T	14: 70,486,265	D710E	possibly damaging	Het
Cep126	A	T	9: 8,099,761	I924N	probably benign	Het
Chek2	G	T	5: 110,872,102	A517S	probably benign	Het
Cmbl	A	T	15: 31,588,232	E165D	probably damaging	Het
Cntnap3	A	T	13: 64,740,812		probably null	Het
Col1a1	A	T	11: 94,944,415		probably benign	Het
Ctbp2	T	C	7: 132,998,924	M624V	possibly damaging	Het
Cwc15	A	G	9: 14,510,247	D203G	probably benign	Het
Cyld	C	T	8: 88,731,667		probably benign	Het
Cyp3a57	A	T	5: 145,365,645	I84F	probably damaging	Het
Dennd3	T	A	15: 73,537,418		probably benign	Het
Desi2	A	C	1: 178,256,651		probably benign	Het
Dmxl1	T	A	18: 49,893,444	L1873*	probably null	Het
Dmxl1	T	A	18: 49,902,988	H2359Q	probably benign	Het
Ephb4	A	G	5: 137,372,178	N880S	possibly damaging	Het
F10	T	C	8: 13,050,764	L214P	probably damaging	Het
F5	G	A	1: 164,174,150	V141M	probably damaging	Het
Fam135a	A	T	1: 24,026,653	S1022T	possibly damaging	Het
Fam13b	A	T	18: 34,487,134	N232K	probably benign	Het
Fyco1	T	C	9: 123,819,092	E1259G	probably benign	Het
Gak	A	T	5: 108,576,582	D1087E	probably benign	Het
Gm7138	A	T	10: 77,776,848		probably benign	Het
Gm8674	T	A	13: 49,901,926		noncoding transcript	Het
Gpr25	A	G	1: 136,260,128	V249A	probably benign	Het
Hcn3	T	C	3: 89,148,119	H607R	probably damaging	Het
Hdac4	T	A	1: 91,947,535	T905S	probably benign	Het
Itgad	T	C	7: 128,205,107	S86P	probably benign	Het
Itgb4	G	T	11: 115,988,918	R632L	probably damaging	Het
Kcnb2	A	T	1: 15,709,755	T284S	probably benign	Het
Klhl22	T	A	16: 17,777,024	M339K	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Mybpc2	C	A	7: 44,513,675	V484L	probably benign	Het
Noa1	A	T	5: 77,306,374	V473E	probably benign	Het
Nwd1	C	G	8: 72,666,835	S242C	possibly damaging	Het
Olfr545	C	A	7: 102,494,040	C245F	probably damaging	Het
Olfr868	A	G	9: 20,101,500	H247R	probably damaging	Het
Otof	A	T	5: 30,386,471	W535R	probably damaging	Het
Peg3	T	C	7: 6,709,085	E1046G	possibly damaging	Het
Phldb2	T	C	16: 45,757,166	E1132G	probably damaging	Het
Phtf2	A	T	5: 20,789,627		probably null	Het
Plce1	G	T	19: 38,716,838	A896S	possibly damaging	Het
Prim1	T	C	10: 128,015,324	Y26H	probably damaging	Het
Prr12	T	A	7: 45,048,356	T712S	unknown	Het
Ptpdc1	T	C	13: 48,586,545	E409G	probably benign	Het
Rabep1	A	G	11: 70,904,641	N274S	probably damaging	Het
Rbm14	A	G	19: 4,803,467	S296P	probably benign	Het
Rec114	A	G	9: 58,653,106	S206P	probably damaging	Het
Rps6ka1	A	T	4: 133,860,070	Y531N	probably damaging	Het
Slc28a2	T	C	2: 122,449,758		probably benign	Het
Slc34a1	A	G	13: 55,413,420	H566R	probably benign	Het
Slc9c1	A	G	16: 45,552,928	T290A	probably benign	Het
Smarcc1	T	A	9: 110,185,820		probably benign	Het
Srp54b	T	A	12: 55,252,759		probably null	Het
Stambpl1	C	G	19: 34,226,721	N70K	probably damaging	Het
Synj1	T	C	16: 90,964,230	K710E	probably damaging	Het
Tenm3	T	A	8: 48,310,634	D795V	probably damaging	Het
Tgm2	T	C	2: 158,134,357	Y149C	probably damaging	Het
Tmem151a	C	A	19: 5,082,867	A104S	probably damaging	Het
Top1mt	A	G	15: 75,666,251		probably null	Het
Tpgs1	T	A	10: 79,675,594	L190Q	possibly damaging	Het
Triobp	T	A	15: 78,967,228	H527Q	possibly damaging	Het
Tspan2	A	G	3: 102,768,877	I197V	probably damaging	Het
Ube3b	A	G	5: 114,387,445	I76V	probably benign	Het
Vmn1r32	A	T	6: 66,553,301	S164T	probably benign	Het
Zfp607a	G	T	7: 27,878,459	C318F	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
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
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'- AAGTTTAGTCCCCGGCGTTTCTG -3'
(R):5'- CGAGTCTTGGTATGACTTATGTGACCTG -3'

Sequencing Primer
(F):5'- gttcagttcccagcgacc -3'
(R):5'- CCTGGATAAATGATTAACAAAAACCC -3'

Posted On

2014-05-23