Mutagenetix > Incidental Mutation

Incidental Mutation 'R2046:Psme4'

221991

Institutional Source

Beutler Lab

Gene Symbol

Psme4

Ensembl Gene

ENSMUSG00000040850

Gene Name

proteasome (prosome, macropain) activator subunit 4

Synonyms

MMRRC Submission

040053-MU

Accession Numbers

Genbank: NM_134013

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30771726-30880361 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 30817723 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000121892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133430

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (71/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	A	2: 130,810,917	I42L	possibly damaging	Het
4930503L19Rik	T	A	18: 70,467,482	D84V	probably damaging	Het
Abcc5	A	T	16: 20,399,817	S272T	possibly damaging	Het
Adgre4	A	G	17: 55,778,847	N49D	possibly damaging	Het
Ap2b1	A	T	11: 83,336,386	Y328F	probably benign	Het
Arhgef33	G	C	17: 80,373,466	E678D	probably benign	Het
Arid2	G	A	15: 96,369,387	V583I	probably damaging	Het
Bdkrb1	T	A	12: 105,604,726	S184T	probably benign	Het
Bend3	T	C	10: 43,511,846	F745S	probably damaging	Het
Card10	A	T	15: 78,787,473	V597E	possibly damaging	Het
Casp3	T	A	8: 46,629,726		probably benign	Het
Ccnb2	A	G	9: 70,409,347	V340A	probably benign	Het
Cdkl3	G	T	11: 52,026,850	V325L	probably benign	Het
Clec4n	T	A	6: 123,246,504	N153K	probably benign	Het
Crtac1	C	T	19: 42,334,053	V83I	probably damaging	Het
Cul9	C	A	17: 46,543,733	L14F	probably damaging	Het
Dgka	T	C	10: 128,723,535	Y519C	probably damaging	Het
Dhrs7	T	G	12: 72,652,266	K314T	possibly damaging	Het
Dnah10	G	T	5: 124,796,341	K2542N	probably benign	Het
Dock5	A	T	14: 67,812,142	V731E	probably benign	Het
Dpy19l1	T	A	9: 24,423,159	H571L	probably damaging	Het
Dzip1	A	T	14: 118,922,478	I106N	probably damaging	Het
Eif2ak4	A	T	2: 118,451,408		probably benign	Het
Epha4	T	C	1: 77,507,162	Y70C	probably damaging	Het
Eps15	T	C	4: 109,370,596	F344S	probably damaging	Het
Erbb4	C	T	1: 68,298,323	R612Q	probably benign	Het
Fam83h	T	C	15: 76,002,938	H850R	probably benign	Het
Fancg	A	G	4: 43,004,604	C484R	probably damaging	Het
Fzd9	A	G	5: 135,249,684	I449T	probably damaging	Het
Gm10647	A	G	9: 66,798,237		probably benign	Het
Gm4951	T	A	18: 60,245,499	H35Q	probably benign	Het
Itga11	C	T	9: 62,727,697	L86F	probably damaging	Het
Lamc2	C	T	1: 153,141,765	R492H	probably benign	Het
March6	A	G	15: 31,486,434	V325A	probably benign	Het
Myo5b	A	T	18: 74,577,455	I47F	probably benign	Het
Nek9	T	A	12: 85,320,707		probably benign	Het
Nelfb	T	A	2: 25,206,311	N262I	probably damaging	Het
Neurl4	A	G	11: 69,908,697	D942G	probably damaging	Het
Nipbl	G	A	15: 8,324,467	P1729S	probably benign	Het
Nr4a3	A	G	4: 48,067,807	T468A	possibly damaging	Het
Nrm	G	A	17: 35,864,217	V146I	probably benign	Het
Olfr1099	C	A	2: 86,958,733	A242S	possibly damaging	Het
Pitx3	T	C	19: 46,137,179	E42G	possibly damaging	Het
Pkd1l2	C	T	8: 116,999,955	A2271T	probably damaging	Het
Pofut2	A	G	10: 77,260,594	N51S	probably damaging	Het
Ppp1r3a	T	C	6: 14,722,104	E273G	probably benign	Het
Pus7l	T	C	15: 94,540,785	I60V	probably benign	Het
Pygo2	T	A	3: 89,433,148	N284K	possibly damaging	Het
Ralgapa1	C	T	12: 55,695,160	C1368Y	probably damaging	Het
Rbm45	G	A	2: 76,375,398	G198E	probably benign	Het
Reln	T	C	5: 21,942,627	I2442V	probably benign	Het
Rmi1	T	C	13: 58,407,958	V7A	probably benign	Het
Rsf1	T	C	7: 97,661,677	L538P	probably benign	Het
Rsph4a	T	G	10: 33,914,543		probably benign	Het
Sardh	A	T	2: 27,215,082	D676E	possibly damaging	Het
Sh3tc2	A	G	18: 61,990,843	M892V	probably benign	Het
Slc38a11	A	G	2: 65,358,185	F80S	probably damaging	Het
Slc6a2	C	A	8: 92,972,926	S194*	probably null	Het
Slco2b1	A	G	7: 99,690,479	F86L	probably damaging	Het
Smc3	G	A	19: 53,639,414	D875N	probably benign	Het
Sp100	G	A	1: 85,709,065	E575K	possibly damaging	Het
Spns2	A	G	11: 72,459,040	L196P	possibly damaging	Het
Taf8	A	G	17: 47,490,276	S261P	probably benign	Het
Trim2	A	G	3: 84,208,289	L86P	probably damaging	Het
Ttn	C	A	2: 76,907,794	V4134F	probably benign	Het
Ush2a	A	G	1: 188,356,927	T360A	probably benign	Het
Usp28	T	A	9: 49,039,075	C935S	probably damaging	Het
Vps37d	T	A	5: 135,073,977	M134L	probably benign	Het
Vwa2	T	G	19: 56,905,578	V329G	probably benign	Het
Zfp110	A	G	7: 12,849,422	R666G	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
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'- GCATTGGCTTCCATTTACTGTAATG -3'
(R):5'- ATAACCCAACGAGGCTGGAG -3'

Sequencing Primer
(F):5'- AGACTACATTTGGCAGCCTG -3'
(R):5'- GAGGAAAGAATATTTGAGGCTAACC -3'

Posted On

2014-08-25