Mutagenetix > Incidental Mutation

Incidental Mutation 'R8323:Psme4'

643930

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 #

R8323 (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 A at 30843532 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1211 (I1211N)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000041231
AA Change: I1211N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: I1211N

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: 99.5%
20x: 98.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	A	T	7: 127,384,449	C494S	possibly damaging	Het
A3galt2	T	C	4: 128,755,558	F6S	probably benign	Het
Braf	T	C	6: 39,643,124	T507A	possibly damaging	Het
Catsperb	A	C	12: 101,409,399	H24P	probably benign	Het
Ccdc57	G	T	11: 120,897,924	Q366K	possibly damaging	Het
Cep295	G	T	9: 15,338,233	T462K	possibly damaging	Het
Cep295	T	A	9: 15,353,061	R96S	probably damaging	Het
Cfap206	C	T	4: 34,719,647	E256K	probably benign	Het
Cldn13	A	G	5: 134,914,974	V119A	probably benign	Het
Csmd1	G	T	8: 17,216,735	C58*	probably null	Het
Csmd3	T	C	15: 47,698,151	Y1343C		Het
Dcbld2	T	A	16: 58,463,110		probably null	Het
Dnah14	A	G	1: 181,704,544	I2299V	probably benign	Het
Dsp	C	T	13: 38,172,830	H229Y	possibly damaging	Het
Fam193b	A	T	13: 55,554,410	C51*	probably null	Het
Fbxw10	G	A	11: 62,876,680	V781I	probably benign	Het
Fdps	G	T	3: 89,095,389	P151T	possibly damaging	Het
Galk2	C	T	2: 125,866,378	H16Y	probably benign	Het
Gm1110	A	G	9: 26,902,423		probably null	Het
Gm340	T	C	19: 41,583,597	S264P	probably benign	Het
Gm3727	C	T	14: 7,261,693	V204I	probably benign	Het
Gtf2h3	A	G	5: 124,582,471	I13V	probably benign	Het
H2-T24	T	A	17: 36,017,539		probably null	Het
Heatr5a	C	T	12: 51,955,506	V216M	probably benign	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Igfbp2	C	T	1: 72,849,621	P224S	probably damaging	Het
Igkv17-127	A	G	6: 67,861,514	I70V	possibly damaging	Het
Kif11	T	A	19: 37,384,244	F27I	possibly damaging	Het
Lrrc28	G	T	7: 67,595,707	T137K	unknown	Het
Lyg1	T	A	1: 37,949,937	R67S	probably damaging	Het
Ms4a10	G	A	19: 10,962,999	Q255*	probably null	Het
Myo1h	A	G	5: 114,342,139	R512G		Het
Nmnat3	T	C	9: 98,410,223	Y174H	probably damaging	Het
Nrap	T	C	19: 56,389,823	I19V	probably benign	Het
Nsf	C	A	11: 103,928,839	V35L	probably benign	Het
Olfr1361	T	A	13: 21,659,132	M64L	possibly damaging	Het
Olfr390	A	T	11: 73,786,940	M1L	probably damaging	Het
Osbpl9	A	G	4: 109,107,922	S116P	probably benign	Het
Pcdhb15	A	C	18: 37,475,662	E649A	probably benign	Het
Pcdhb8	T	A	18: 37,355,423	D51E	probably benign	Het
Plcl1	T	A	1: 55,697,736	D745E	possibly damaging	Het
Prss3	A	G	6: 41,374,324	L165P	probably damaging	Het
Rb1	A	G	14: 73,265,583	V416A	probably benign	Het
Rnf111	T	A	9: 70,475,922	Q243L	probably benign	Het
Sacm1l	T	C	9: 123,548,922	V89A	probably benign	Het
Sardh	C	T	2: 27,235,564	D313N	probably damaging	Het
Scin	T	C	12: 40,079,682	I371V	probably benign	Het
Scn10a	C	A	9: 119,609,396	L1801F	possibly damaging	Het
Sele	G	A	1: 164,051,638	V281M	possibly damaging	Het
Slc17a1	C	A	13: 23,887,999	T400K	probably damaging	Het
Slc22a28	T	A	19: 8,131,424	D118V	probably damaging	Het
Slc2a10	T	A	2: 165,514,751	F110L	probably benign	Het
Slc51a	A	G	16: 32,476,379	S294P	probably damaging	Het
Snapc4	T	C	2: 26,364,699	E1271G	probably benign	Het
Spata31	C	A	13: 64,922,251	Q738K	possibly damaging	Het
Spdya	A	G	17: 71,588,592	D284G	probably benign	Het
Tdrd5	T	C	1: 156,267,262	D757G	possibly damaging	Het
Tmem104	T	C	11: 115,243,373	F245S	probably damaging	Het
Tmem170	A	T	8: 111,876,521	S39T	probably benign	Het
Trim24	G	T	6: 37,915,298		probably null	Het
Uap1	A	G	1: 170,151,066	V302A	probably damaging	Het
Vmn2r96	A	T	17: 18,582,761	Y311F	probably damaging	Het
Wdhd1	A	T	14: 47,274,795	D46E	possibly damaging	Het
Wdr66	A	G	5: 123,297,525	N1016S	probably benign	Het
Zdbf2	G	A	1: 63,302,914	V151I	possibly damaging	Het
Zfp943	A	G	17: 21,992,782	Q283R	possibly damaging	Het
Zfp944	A	T	17: 22,339,254	D337E	probably benign	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
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'- CTGTATAAAAGACAGCTTGTGTTGG -3'
(R):5'- AGCTGACTTTCGAATTCTGGACC -3'

Sequencing Primer
(F):5'- GGGACCTAATCTTTGAGAAACTCCTG -3'
(R):5'- GAATTCTGGACCTTTCTACCTGTG -3'

Posted On

2020-09-02