Mutagenetix > Incidental Mutation

Incidental Mutation 'R6750:Psme4'

530721

Institutional Source

Beutler Lab

Gene Symbol

Psme4

Ensembl Gene

ENSMUSG00000040850

Gene Name

proteasome (prosome, macropain) activator subunit 4

Synonyms

MMRRC Submission

044867-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6750 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30721726-30830361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30803203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 15 (D15V)

Ref Sequence

ENSEMBL: ENSMUSP00000114537 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000041231
AA Change: D1516V

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

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: D1516V

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 damaging
Transcript: ENSMUST00000129824
AA Change: D15V

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

Meta Mutation Damage Score

0.7022

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

100% (75/75)

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
Adal	A	T	2: 120,973,130 (GRCm39)	L62F	probably damaging	Het
Akap13	C	T	7: 75,389,206 (GRCm39)	P2375S	probably benign	Het
Apob	T	A	12: 8,047,853 (GRCm39)	L931Q	probably damaging	Het
Arcn1	A	G	9: 44,661,691 (GRCm39)	V391A	possibly damaging	Het
Ccdc162	A	T	10: 41,437,222 (GRCm39)	I1729N	possibly damaging	Het
Cd24a	T	C	10: 43,458,721 (GRCm39)	L86P	unknown	Het
Cdcp3	T	A	7: 130,889,974 (GRCm39)		probably benign	Het
Churc1	C	A	12: 76,822,405 (GRCm39)	H71Q	probably damaging	Het
Clcn3	A	G	8: 61,367,809 (GRCm39)	L780P	possibly damaging	Het
Cldn17	C	T	16: 88,303,195 (GRCm39)	G178E	possibly damaging	Het
Cmah	A	G	13: 24,648,235 (GRCm39)	Y345C	probably damaging	Het
Cntnap5b	C	T	1: 100,202,224 (GRCm39)	S357L	probably damaging	Het
Col6a6	A	G	9: 105,660,879 (GRCm39)	I410T	probably damaging	Het
Crmp1	T	C	5: 37,422,666 (GRCm39)		probably null	Het
Csmd2	A	C	4: 128,091,018 (GRCm39)	N186H	possibly damaging	Het
Cyp1a1	A	T	9: 57,607,539 (GRCm39)	M56L	probably benign	Het
D2hgdh	G	C	1: 93,754,129 (GRCm39)	R56P	probably benign	Het
Dapk2	A	G	9: 66,128,034 (GRCm39)	E104G	probably damaging	Het
Dld	T	C	12: 31,382,213 (GRCm39)	N498S	probably benign	Het
Dyrk4	G	T	6: 126,875,918 (GRCm39)	Q106K	probably benign	Het
Eif2b4	T	C	5: 31,347,304 (GRCm39)	I333V	probably damaging	Het
F5	A	G	1: 164,021,076 (GRCm39)	T1184A	possibly damaging	Het
Fbxl6	C	T	15: 76,422,612 (GRCm39)	G102D	probably damaging	Het
Foxa1	C	T	12: 57,589,396 (GRCm39)	G275R	probably benign	Het
Fryl	A	G	5: 73,179,575 (GRCm39)	I2944T	probably damaging	Het
Gna15	T	C	10: 81,350,117 (GRCm39)	D95G	probably benign	Het
Greb1	T	A	12: 16,738,584 (GRCm39)	M1460L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,747,195 (GRCm39)	I444T	probably damaging	Het
Ifngr1	T	A	10: 19,485,099 (GRCm39)	M366K	probably benign	Het
Krt27	C	T	11: 99,239,806 (GRCm39)	E253K	probably damaging	Het
Mical2	C	T	7: 111,981,046 (GRCm39)	T406I	probably damaging	Het
Mocs2	T	G	13: 114,962,784 (GRCm39)	D156E	probably damaging	Het
Mprip	A	T	11: 59,586,957 (GRCm39)	K43N	probably damaging	Het
Myo5b	A	T	18: 74,750,106 (GRCm39)	T190S	possibly damaging	Het
Naa25	C	T	5: 121,546,372 (GRCm39)	T86M	probably damaging	Het
Ncam1	T	C	9: 49,478,639 (GRCm39)	D163G	probably damaging	Het
Nlrp4f	A	T	13: 65,329,468 (GRCm39)	Y908*	probably null	Het
Nlrp9b	T	A	7: 19,757,159 (GRCm39)	L132*	probably null	Het
Nrg1	A	C	8: 32,308,124 (GRCm39)	S679A	probably damaging	Het
Or1j1	C	A	2: 36,702,954 (GRCm39)	R50M	possibly damaging	Het
Or52p1	C	T	7: 104,267,320 (GRCm39)	R145C	probably damaging	Het
Paqr9	A	T	9: 95,443,050 (GRCm39)	T347S	probably damaging	Het
Pcdhb21	T	C	18: 37,647,501 (GRCm39)	L210P	probably damaging	Het
Pdzd7	T	G	19: 45,016,187 (GRCm39)	D978A	probably benign	Het
Phf8-ps	A	T	17: 33,285,372 (GRCm39)	S477T	possibly damaging	Het
Pkd1l1	A	T	11: 8,923,217 (GRCm39)	S17T	unknown	Het
Plcz1	T	C	6: 139,974,164 (GRCm39)	K93E	possibly damaging	Het
Pom121l2	G	C	13: 22,166,107 (GRCm39)	R126P	probably damaging	Het
Prkg1	C	T	19: 31,741,961 (GRCm39)	E88K	probably benign	Het
Ptprf	A	G	4: 118,088,928 (GRCm39)	V625A	probably benign	Het
Rab27a	G	A	9: 72,992,290 (GRCm39)	S106N	probably damaging	Het
Rasa4	A	G	5: 136,129,802 (GRCm39)	T261A	probably benign	Het
Sardh	T	C	2: 27,118,269 (GRCm39)	D487G	probably benign	Het
Sec16a	A	G	2: 26,330,030 (GRCm39)	Y662H	probably benign	Het
Sema3d	T	A	5: 12,635,067 (GRCm39)	L711*	probably null	Het
Septin14	T	A	5: 129,773,181 (GRCm39)	Y152F	probably damaging	Het
Smc5	A	G	19: 23,220,004 (GRCm39)	L411P	probably damaging	Het
Spata31e5	C	A	1: 28,816,495 (GRCm39)	E512D	probably damaging	Het
Spg7	T	A	8: 123,800,650 (GRCm39)	V39E	probably damaging	Het
Tas2r117	A	G	6: 132,779,817 (GRCm39)		probably benign	Het
Tle1	A	T	4: 72,040,687 (GRCm39)	I631N	probably damaging	Het
Tmed3	T	A	9: 89,581,843 (GRCm39)	S207C	probably damaging	Het
Tmem59l	G	A	8: 70,939,022 (GRCm39)	P51S	probably benign	Het
Trpc3	A	G	3: 36,678,542 (GRCm39)	Y848H	probably damaging	Het
Tsen2	T	C	6: 115,526,881 (GRCm39)	F66S	probably damaging	Het
Ttll5	T	A	12: 86,003,384 (GRCm39)	S216R	probably damaging	Het
Usp22	A	T	11: 61,048,042 (GRCm39)	V426E	probably damaging	Het
Vmn2r76	T	C	7: 85,875,114 (GRCm39)	N621S	probably damaging	Het
Wdr75	A	G	1: 45,856,539 (GRCm39)	T521A	probably damaging	Het
Wrnip1	T	A	13: 32,986,739 (GRCm39)	D173E	probably damaging	Het
Zfp317	G	A	9: 19,559,100 (GRCm39)	G438D	probably damaging	Het
Zscan10	T	A	17: 23,826,164 (GRCm39)	S109T	possibly 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
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
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
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'- GAGCACTGTACTCAGAAGCCAC -3'
(R):5'- GTTTAATGCCCTGAGTTCGTTC -3'

Sequencing Primer
(F):5'- GCAGCCATCATACTACAGGGTTG -3'
(R):5'- GAGTTCGTTCATCTTCTTCACCAATG -3'

Posted On

2018-08-01