Mutagenetix > Incidental Mutation

Incidental Mutation 'R3807:Psme4'

274984

Institutional Source

Beutler Lab

Gene Symbol

Psme4

Ensembl Gene

ENSMUSG00000040850

Gene Name

proteasome (prosome, macropain) activator subunit 4

Synonyms

MMRRC Submission

040764-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3807 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30721726-30830361 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 30806027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114537 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably null
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

probably null
Transcript: ENSMUST00000129824

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	T	8: 112,717,002 (GRCm39)	W2R	probably damaging	Het
Arhgap42	A	G	9: 9,008,034 (GRCm39)	I563T	probably damaging	Het
Armcx1	T	C	X: 133,622,014 (GRCm39)	V372A	probably damaging	Het
Bicd1	T	A	6: 149,420,489 (GRCm39)	L780M	probably damaging	Het
Bpifb1	C	A	2: 154,055,922 (GRCm39)	N329K	probably benign	Het
Ccdc113	A	T	8: 96,269,281 (GRCm39)	N193I	probably damaging	Het
Cebpz	A	T	17: 79,242,847 (GRCm39)	L269Q	probably damaging	Het
Cttn	C	T	7: 143,999,588 (GRCm39)	V290M	probably damaging	Het
Ctu1	T	C	7: 43,326,097 (GRCm39)	L252P	probably damaging	Het
Dmbt1	T	A	7: 130,713,819 (GRCm39)	M1455K	possibly damaging	Het
Eme1	A	G	11: 94,541,418 (GRCm39)	W135R	probably damaging	Het
Entpd7	T	G	19: 43,713,979 (GRCm39)		probably null	Het
Eri2	A	T	7: 119,385,231 (GRCm39)	C423*	probably null	Het
Erich1	T	C	8: 14,083,695 (GRCm39)	N125S	probably benign	Het
Fam149a	T	A	8: 45,834,647 (GRCm39)	T51S	possibly damaging	Het
Fer1l4	C	T	2: 155,887,603 (GRCm39)	G531D	probably damaging	Het
Frem2	A	T	3: 53,560,870 (GRCm39)	D1212E	probably benign	Het
Garin3	G	A	11: 46,295,780 (GRCm39)	A51T	possibly damaging	Het
Get4	G	T	5: 139,238,286 (GRCm39)	V23F	probably damaging	Het
Gm11595	C	T	11: 99,663,380 (GRCm39)	R100H	unknown	Het
Gria1	T	C	11: 57,201,504 (GRCm39)	W712R	probably damaging	Het
Herc2	A	G	7: 55,857,557 (GRCm39)	N4047D	probably damaging	Het
Hoxc9	A	G	15: 102,890,116 (GRCm39)	Y11C	possibly damaging	Het
Lama2	GCCC	GCC	10: 27,066,661 (GRCm39)		probably null	Het
Lrrc56	A	G	7: 140,789,298 (GRCm39)	T393A	probably benign	Het
Lrrc7	T	C	3: 157,891,130 (GRCm39)	I346V	probably benign	Het
Med14	T	C	X: 12,553,416 (GRCm39)	Y463C	probably damaging	Het
Nalcn	T	A	14: 123,515,599 (GRCm39)	D1734V	probably damaging	Het
Nfe2l3	A	T	6: 51,434,357 (GRCm39)	R306*	probably null	Het
Nolc1	CAG	CAGAAG	19: 46,069,798 (GRCm39)		probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,069,810 (GRCm39)		probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,069,791 (GRCm39)		probably benign	Het
Npr1	A	T	3: 90,366,033 (GRCm39)	V586E	probably damaging	Het
Or2d2b	A	G	7: 106,705,670 (GRCm39)	S133P	probably benign	Het
Or5h24	A	C	16: 58,919,206 (GRCm39)	*50G	probably null	Het
Pcdhb4	T	C	18: 37,442,367 (GRCm39)	F559S	probably damaging	Het
Psmd12	T	G	11: 107,386,591 (GRCm39)	D387E	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rgs11	A	T	17: 26,422,474 (GRCm39)	I69F	probably damaging	Het
Ryr1	C	T	7: 28,719,577 (GRCm39)	A4277T	probably damaging	Het
Setbp1	C	T	18: 78,826,537 (GRCm39)	V1359I	probably benign	Het
Sis	A	T	3: 72,832,929 (GRCm39)	V956E	probably benign	Het
Slc35f3	T	A	8: 127,115,978 (GRCm39)	W302R	probably damaging	Het
Syt16	A	G	12: 74,276,172 (GRCm39)	E212G	possibly damaging	Het
Tdp2	C	A	13: 25,015,776 (GRCm39)	S21*	probably null	Het
Tfrc	A	T	16: 32,435,644 (GRCm39)	N173I	possibly damaging	Het
Tmem132b	A	T	5: 125,864,644 (GRCm39)	I917F	probably damaging	Het
Vbp1	T	C	X: 74,566,948 (GRCm39)	V122A	probably damaging	Het
Vmn1r225	G	A	17: 20,723,114 (GRCm39)	W185*	probably null	Het
Vmn1r70	A	G	7: 10,367,715 (GRCm39)	T68A	probably benign	Het
Zfp518a	A	G	19: 40,903,241 (GRCm39)	K1057E	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
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
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'- CCTCAGAATTCTTGGCTAGTTTG -3'
(R):5'- TGTAGGTCCACACATCAACC -3'

Sequencing Primer
(F):5'- CTTGGCAGGCTATTATAACTCGTAG -3'
(R):5'- CAACCACTGAATGATGGTTACG -3'

Posted On

2015-04-02