Mutagenetix > Incidental Mutation

Incidental Mutation 'R8998:Psme4'

690293

Institutional Source

Beutler Lab

Gene Symbol

Psme4

Ensembl Gene

ENSMUSG00000040850

Gene Name

proteasome (prosome, macropain) activator subunit 4

Synonyms

MMRRC Submission

068829-MU

Accession Numbers

Genbank: NM_134013

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8998 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30771726-30880361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30838957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1120 (L1120F)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041231
AA Change: L1120F

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: L1120F

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: 98.8%

Validation Efficiency

100% (41/41)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aloxe3	A	G	11: 69,142,225 (GRCm38)	K575R	probably benign	Het
Atp10b	T	A	11: 43,259,899 (GRCm38)	*1475R	probably null	Het
Baz2b	T	C	2: 59,969,264 (GRCm38)	D237G	probably benign	Het
Cacna2d4	A	C	6: 119,242,915 (GRCm38)	Q215H	possibly damaging	Het
Capn15	G	A	17: 25,963,081 (GRCm38)	R651C	probably damaging	Het
Ccdc28b	A	G	4: 129,622,678 (GRCm38)	V29A	probably benign	Het
Cyb5rl	A	G	4: 107,080,960 (GRCm38)	T170A	possibly damaging	Het
D330020A13Rik	A	G	6: 120,294,929 (GRCm38)	T189A	unknown	Het
Emsy	C	A	7: 98,619,305 (GRCm38)	V524F	possibly damaging	Het
Eppk1	T	A	15: 76,102,736 (GRCm38)	N3315I	probably damaging	Het
Erich2	T	G	2: 70,531,620 (GRCm38)		probably benign	Het
Fkbp15	T	C	4: 62,324,128 (GRCm38)	D529G	probably damaging	Het
Gbx2	C	A	1: 89,929,023 (GRCm38)	G215V	possibly damaging	Het
Gzmd	T	A	14: 56,130,687 (GRCm38)	Y105F	possibly damaging	Het
Hpse	G	A	5: 100,692,243 (GRCm38)	T336M	probably damaging	Het
Hrg	A	G	16: 22,953,705 (GRCm38)	D88G	probably damaging	Het
Kif20b	G	A	19: 34,936,853 (GRCm38)		probably benign	Het
Kmt2a	A	G	9: 44,821,877 (GRCm38)	M2381T	unknown	Het
Krtap5-3	T	A	7: 142,202,196 (GRCm38)	C257S	unknown	Het
Met	C	T	6: 17,491,535 (GRCm38)	R99W	probably benign	Het
Nlrp4b	A	G	7: 10,715,702 (GRCm38)	R611G	probably null	Het
Olfr1154	T	A	2: 87,902,845 (GRCm38)	Y277F	probably damaging	Het
Olfr32	C	T	2: 90,139,128 (GRCm38)	V4I	probably benign	Het
Olfr516	A	C	7: 108,845,810 (GRCm38)	S67A	probably benign	Het
Olfr905	T	C	9: 38,473,491 (GRCm38)	V248A	probably benign	Het
Papd5	A	G	8: 88,250,722 (GRCm38)	H384R	probably benign	Het
Pclo	A	G	5: 14,677,496 (GRCm38)	I2123V	unknown	Het
Phf10	G	C	17: 14,950,621 (GRCm38)	A350G	probably benign	Het
Pira2	T	C	7: 3,842,491 (GRCm38)	Y298C	probably damaging	Het
Pkhd1	A	T	1: 20,364,201 (GRCm38)	Y2338N	probably damaging	Het
Safb2	A	T	17: 56,563,391 (GRCm38)	H934Q	possibly damaging	Het
Slc4a7	T	A	14: 14,775,346 (GRCm38)	L884Q	probably damaging	Het
Smc4	A	C	3: 69,027,561 (GRCm38)		probably benign	Het
Spag16	T	C	1: 69,896,547 (GRCm38)	V311A	probably benign	Het
Spert	T	C	14: 75,583,214 (GRCm38)	E357G	probably damaging	Het
Sprr2j-ps	T	C	3: 92,418,869 (GRCm38)	V17A	unknown	Het
Tenm3	T	C	8: 48,276,687 (GRCm38)	Y1428C	probably damaging	Het
Treml2	A	G	17: 48,302,747 (GRCm38)	D69G	possibly damaging	Het
Ttn	T	C	2: 76,827,933 (GRCm38)	K12368E	unknown	Het
Usp17le	T	C	7: 104,768,762 (GRCm38)	D391G	probably benign	Het
Usp28	G	A	9: 49,037,839 (GRCm38)	R911Q	probably benign	Het
Wdfy3	A	C	5: 101,845,192 (GRCm38)	S3274R	probably benign	Het
Ythdc2	T	C	18: 44,864,304 (GRCm38)	V976A	probably benign	Het
Zfp334	A	G	2: 165,381,488 (GRCm38)	S212P	possibly damaging	Het

Other mutations in Psme4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Psme4	APN	11	30,815,710 (GRCm38)	critical splice donor site	probably null
IGL00401:Psme4	APN	11	30,821,079 (GRCm38)	splice site	probably benign
IGL00475:Psme4	APN	11	30,845,252 (GRCm38)	missense	probably benign	0.14
IGL00576:Psme4	APN	11	30,823,145 (GRCm38)	missense	possibly damaging	0.50
IGL00817:Psme4	APN	11	30,820,129 (GRCm38)	missense	probably benign	0.01
IGL01525:Psme4	APN	11	30,809,936 (GRCm38)	splice site	probably benign
IGL01862:Psme4	APN	11	30,812,038 (GRCm38)	nonsense	probably null
IGL02310:Psme4	APN	11	30,837,484 (GRCm38)	missense	probably benign	0.06
IGL02477:Psme4	APN	11	30,842,083 (GRCm38)	missense	probably damaging	0.99
IGL02545:Psme4	APN	11	30,841,586 (GRCm38)	missense	possibly damaging	0.81
IGL02608:Psme4	APN	11	30,820,944 (GRCm38)	missense	probably benign	0.34
IGL02621:Psme4	APN	11	30,848,131 (GRCm38)	missense	probably benign
IGL02822:Psme4	APN	11	30,848,204 (GRCm38)	unclassified	probably benign
IGL02833:Psme4	APN	11	30,850,715 (GRCm38)	unclassified	probably benign
IGL02964:Psme4	APN	11	30,791,095 (GRCm38)	nonsense	probably null
IGL03273:Psme4	APN	11	30,848,130 (GRCm38)	missense	probably damaging	1.00
IGL03348:Psme4	APN	11	30,876,796 (GRCm38)	missense	probably damaging	1.00
IGL03382:Psme4	APN	11	30,807,788 (GRCm38)	missense	possibly damaging	0.94
H2330:Psme4	UTSW	11	30,851,210 (GRCm38)	missense	probably benign	0.17
PIT4378001:Psme4	UTSW	11	30,821,079 (GRCm38)	splice site	probably benign
R0276:Psme4	UTSW	11	30,811,980 (GRCm38)	missense	probably damaging	1.00
R0462:Psme4	UTSW	11	30,848,117 (GRCm38)	missense	probably damaging	1.00
R0685:Psme4	UTSW	11	30,878,415 (GRCm38)	missense	probably damaging	1.00
R0766:Psme4	UTSW	11	30,807,687 (GRCm38)	splice site	probably null
R0830:Psme4	UTSW	11	30,807,797 (GRCm38)	missense	possibly damaging	0.53
R0940:Psme4	UTSW	11	30,815,264 (GRCm38)	missense	possibly damaging	0.53
R1018:Psme4	UTSW	11	30,804,310 (GRCm38)	missense	probably damaging	1.00
R1312:Psme4	UTSW	11	30,807,687 (GRCm38)	splice site	probably null
R1448:Psme4	UTSW	11	30,852,744 (GRCm38)	missense	probably damaging	1.00
R1713:Psme4	UTSW	11	30,806,310 (GRCm38)	missense	probably damaging	1.00
R1732:Psme4	UTSW	11	30,848,105 (GRCm38)	missense	probably benign	0.03
R1813:Psme4	UTSW	11	30,804,353 (GRCm38)	missense	probably benign	0.14
R1905:Psme4	UTSW	11	30,810,922 (GRCm38)	missense	probably damaging	1.00
R1907:Psme4	UTSW	11	30,810,922 (GRCm38)	missense	probably damaging	1.00
R1911:Psme4	UTSW	11	30,815,658 (GRCm38)	missense	probably benign	0.02
R1956:Psme4	UTSW	11	30,832,424 (GRCm38)	missense	probably damaging	0.99
R1974:Psme4	UTSW	11	30,819,011 (GRCm38)	missense	probably benign	0.00
R1980:Psme4	UTSW	11	30,832,615 (GRCm38)	missense	possibly damaging	0.84
R1986:Psme4	UTSW	11	30,830,352 (GRCm38)	missense	probably benign	0.01
R2046:Psme4	UTSW	11	30,817,723 (GRCm38)	splice site	probably benign
R2142:Psme4	UTSW	11	30,820,998 (GRCm38)	missense	possibly damaging	0.89
R2698:Psme4	UTSW	11	30,874,282 (GRCm38)	critical splice donor site	probably null
R2844:Psme4	UTSW	11	30,845,173 (GRCm38)	splice site	probably benign
R3807:Psme4	UTSW	11	30,856,027 (GRCm38)	splice site	probably null
R3876:Psme4	UTSW	11	30,856,068 (GRCm38)	missense	probably damaging	0.99
R4420:Psme4	UTSW	11	30,812,028 (GRCm38)	missense	possibly damaging	0.67
R4584:Psme4	UTSW	11	30,834,318 (GRCm38)	missense	probably damaging	1.00
R4615:Psme4	UTSW	11	30,834,287 (GRCm38)	missense	probably benign	0.02
R4714:Psme4	UTSW	11	30,832,573 (GRCm38)	missense	probably benign	0.02
R5008:Psme4	UTSW	11	30,856,896 (GRCm38)	intron	probably benign
R5109:Psme4	UTSW	11	30,791,095 (GRCm38)	nonsense	probably null
R5155:Psme4	UTSW	11	30,876,806 (GRCm38)	missense	probably damaging	1.00
R5199:Psme4	UTSW	11	30,853,272 (GRCm38)	missense	probably benign	0.00
R5205:Psme4	UTSW	11	30,832,666 (GRCm38)	intron	probably benign
R5452:Psme4	UTSW	11	30,791,168 (GRCm38)	missense	probably benign
R5491:Psme4	UTSW	11	30,815,246 (GRCm38)	missense	possibly damaging	0.63
R5685:Psme4	UTSW	11	30,809,837 (GRCm38)	missense	probably damaging	0.99
R5764:Psme4	UTSW	11	30,772,364 (GRCm38)	intron	probably benign
R5853:Psme4	UTSW	11	30,791,234 (GRCm38)	critical splice donor site	probably null
R5865:Psme4	UTSW	11	30,791,993 (GRCm38)	missense	possibly damaging	0.95
R5903:Psme4	UTSW	11	30,841,589 (GRCm38)	missense	probably benign	0.28
R5927:Psme4	UTSW	11	30,804,294 (GRCm38)	missense	possibly damaging	0.82
R6004:Psme4	UTSW	11	30,856,896 (GRCm38)	intron	probably benign
R6102:Psme4	UTSW	11	30,865,567 (GRCm38)	missense	probably damaging	1.00
R6247:Psme4	UTSW	11	30,853,245 (GRCm38)	missense	possibly damaging	0.60
R6527:Psme4	UTSW	11	30,832,175 (GRCm38)	missense	probably benign
R6750:Psme4	UTSW	11	30,853,203 (GRCm38)	missense	probably damaging	1.00
R6885:Psme4	UTSW	11	30,834,307 (GRCm38)	nonsense	probably null
R6939:Psme4	UTSW	11	30,837,291 (GRCm38)	missense	probably damaging	0.99
R6945:Psme4	UTSW	11	30,837,437 (GRCm38)	missense	probably benign	0.06
R7029:Psme4	UTSW	11	30,772,474 (GRCm38)	intron	probably benign
R7049:Psme4	UTSW	11	30,813,904 (GRCm38)	splice site	probably null
R7098:Psme4	UTSW	11	30,850,661 (GRCm38)	missense	probably damaging	0.99
R7107:Psme4	UTSW	11	30,848,105 (GRCm38)	missense	probably benign	0.03
R7223:Psme4	UTSW	11	30,874,226 (GRCm38)	missense	probably benign	0.33
R7319:Psme4	UTSW	11	30,807,790 (GRCm38)	missense	probably benign	0.00
R7375:Psme4	UTSW	11	30,772,700 (GRCm38)	splice site	probably null
R7410:Psme4	UTSW	11	30,815,279 (GRCm38)	nonsense	probably null
R7469:Psme4	UTSW	11	30,802,837 (GRCm38)	missense	probably benign	0.20
R7651:Psme4	UTSW	11	30,837,334 (GRCm38)	missense	probably damaging	0.98
R7679:Psme4	UTSW	11	30,878,425 (GRCm38)	missense	probably damaging	0.99
R7681:Psme4	UTSW	11	30,791,975 (GRCm38)	missense	possibly damaging	0.63
R7822:Psme4	UTSW	11	30,874,245 (GRCm38)	missense	probably benign
R8013:Psme4	UTSW	11	30,804,320 (GRCm38)	missense	probably benign	0.06
R8130:Psme4	UTSW	11	30,842,026 (GRCm38)	missense	probably damaging	1.00
R8323:Psme4	UTSW	11	30,843,532 (GRCm38)	missense	probably damaging	0.99
R8330:Psme4	UTSW	11	30,843,583 (GRCm38)	missense	probably benign	0.00
R8363:Psme4	UTSW	11	30,812,139 (GRCm38)	missense	probably damaging	1.00
R8491:Psme4	UTSW	11	30,772,161 (GRCm38)	missense	possibly damaging	0.90
R8690:Psme4	UTSW	11	30,837,319 (GRCm38)	missense	probably benign	0.00
R8696:Psme4	UTSW	11	30,809,896 (GRCm38)	missense	probably damaging	0.99
R8743:Psme4	UTSW	11	30,878,467 (GRCm38)	missense	probably damaging	1.00
R9241:Psme4	UTSW	11	30,865,576 (GRCm38)	missense	probably damaging	1.00
R9657:Psme4	UTSW	11	30,838,980 (GRCm38)	missense	probably benign	0.00
R9736:Psme4	UTSW	11	30,847,411 (GRCm38)	missense	probably damaging	0.99
R9744:Psme4	UTSW	11	30,815,294 (GRCm38)	critical splice donor site	probably null
R9746:Psme4	UTSW	11	30,876,868 (GRCm38)	nonsense	probably null
V5088:Psme4	UTSW	11	30,851,210 (GRCm38)	missense	probably benign	0.17
X0063:Psme4	UTSW	11	30,832,600 (GRCm38)	missense	possibly damaging	0.66
Z1176:Psme4	UTSW	11	30,843,522 (GRCm38)	missense	possibly damaging	0.87
Z1177:Psme4	UTSW	11	30,812,138 (GRCm38)	missense	probably damaging	1.00
Z1177:Psme4	UTSW	11	30,806,311 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCACCAAACTTCCTGAACTG -3'
(R):5'- TTCAGGCCCTTTACAACAATCATC -3'

Sequencing Primer
(F):5'- GGTCCTAAGAATTGAACTCGGATC -3'
(R):5'- GCCCTTTACAACAATCATCTCCCAAC -3'

Posted On

2021-11-19