Mutagenetix > Incidental Mutation

Incidental Mutation 'R8690:Psme4'

668325

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 #

R8690 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30771726-30880361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30837319 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1038 (V1038E)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably benign
Transcript: ENSMUST00000041231
AA Change: V1038E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: V1038E

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

Meta Mutation Damage Score

0.0753

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	T	A	12: 55,061,172	T81S	possibly damaging	Het
Ablim2	C	T	5: 35,873,174	A581V	possibly damaging	Het
Acbd5	T	A	2: 23,089,698	S210T	probably benign	Het
Adam10	T	A	9: 70,748,223	F324L	probably damaging	Het
Ak6	A	G	13: 100,655,349	N100S	possibly damaging	Het
Angptl3	G	T	4: 99,037,522	V362L	probably benign	Het
Ano9	C	A	7: 141,104,307	W514L	probably benign	Het
Asb8	T	C	15: 98,136,227	Y149C	probably damaging	Het
Bcl6b	C	A	11: 70,226,621	A392S	probably damaging	Het
C130026I21Rik	G	A	1: 85,257,449	H130Y	probably benign	Het
Cad	T	A	5: 31,075,156	I1855N	possibly damaging	Het
Calm5	G	A	13: 3,854,277	G4R	probably damaging	Het
Carm1	T	C	9: 21,569,512	V94A	probably damaging	Het
Ccnl1	A	T	3: 65,947,744	S399R	possibly damaging	Het
Cdh17	T	A	4: 11,783,163	I168N	probably benign	Het
Ces2g	C	T	8: 104,966,973	R429C	probably benign	Het
Chd3	T	C	11: 69,355,822		probably benign	Het
Cmtr2	T	A	8: 110,222,345	M429K	probably benign	Het
Cnga1	T	G	5: 72,604,492	I560L	probably benign	Het
Col6a5	A	G	9: 105,882,597	Y1975H	probably damaging	Het
Copb1	T	C	7: 114,250,228	I47V	probably benign	Het
Crbn	G	A	6: 106,800,049		probably benign	Het
Ddx41	A	G	13: 55,533,126	L324P	probably damaging	Het
Dhx57	A	G	17: 80,270,365		probably benign	Het
Dlgap2	A	T	8: 14,743,430	I475F	probably benign	Het
Dock2	T	A	11: 34,727,460	K110*	probably null	Het
Dpp7	T	C	2: 25,355,633	D147G	probably damaging	Het
Dync2h1	G	T	9: 7,075,824	D3014E	probably damaging	Het
Efcab5	A	T	11: 77,103,289	F1291I	probably damaging	Het
Endov	T	A	11: 119,491,910	V61D	probably benign	Het
Etv3	C	A	3: 87,536,479	P457T	possibly damaging	Het
Fam185a	T	A	5: 21,433,768	H199Q	probably benign	Het
Fat3	T	A	9: 15,967,101	E3361D	probably benign	Het
Fbn1	T	C	2: 125,344,095		probably benign	Het
Gm17079	A	T	14: 51,695,330	W37R		Het
Gpr68	T	C	12: 100,879,033	H84R	probably benign	Het
Gramd1b	A	T	9: 40,304,378	S725R	probably damaging	Het
Greb1	T	A	12: 16,696,547	T1241S	probably benign	Het
Hcn4	T	C	9: 58,843,910	M273T	probably benign	Het
Hdlbp	A	G	1: 93,413,918	V973A	probably damaging	Het
Ighv8-11	A	T	12: 115,567,544		probably benign	Het
Itpkb	A	T	1: 180,421,781	Q907L	probably benign	Het
Lmo7	T	A	14: 101,931,208	N1634K	unknown	Het
Lrrk1	C	A	7: 66,302,729	L486F	probably benign	Het
Mdfic	G	A	6: 15,799,654	C260Y	probably damaging	Het
Mdh2	T	C	5: 135,786,028	I140T	probably benign	Het
Myo9a	T	C	9: 59,875,374	V1775A	probably benign	Het
Olfr342	T	C	2: 36,528,195	V261A	probably benign	Het
Olfr557	C	A	7: 102,698,821	D194E	probably damaging	Het
Olfr665	T	C	7: 104,881,555	Y283H	probably damaging	Het
P2rx2	C	T	5: 110,342,514	V112I	probably damaging	Het
Rab25	T	A	3: 88,545,081	R73S	probably damaging	Het
Rab8a	TA	TAA	8: 72,171,286		probably null	Het
Rnf213	T	C	11: 119,418,129	Y729H		Het
Rnf213	A	G	11: 119,441,212	T2417A		Het
Rnft2	C	A	5: 118,228,870	A268S	probably benign	Het
Samhd1	T	C	2: 157,129,874	D116G	probably benign	Het
Sema6d	T	A	2: 124,665,017	V915E	probably benign	Het
Srcin1	C	A	11: 97,523,542	R1045L	probably damaging	Het
St18	T	A	1: 6,802,564	N174K	probably benign	Het
Stac3	G	A	10: 127,503,625	C130Y	probably damaging	Het
Stum	G	C	1: 180,483,175	P52R	probably damaging	Het
Tbc1d2	C	T	4: 46,615,106	E526K	possibly damaging	Het
Tiam1	A	G	16: 89,898,012	S186P	probably damaging	Het
Tiparp	G	C	3: 65,553,542	V651L	probably benign	Het
Tmem19	C	T	10: 115,343,860	G244S	probably damaging	Het
Trip11	A	T	12: 101,873,397	V1658D	possibly damaging	Het
Ttyh3	A	C	5: 140,627,189	Y453D	probably damaging	Het
Ttyh3	G	T	5: 140,627,190	S452R	probably benign	Het
Ube2h	C	T	6: 30,262,339		probably benign	Het
Zbtb4	T	C	11: 69,776,792	S308P	probably damaging	Het
Zfyve1	T	C	12: 83,550,907	E672G	probably damaging	Het
Zswim5	G	A	4: 116,984,805	D861N	probably damaging	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
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
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'- GAGGAAAATATTAATGGGTCCACTTGC -3'
(R):5'- GGTTGCTTACTGTAAAATCCAAGC -3'

Sequencing Primer
(F):5'- ATGGGTCCACTTGCTTATACCTCAAG -3'
(R):5'- GCTTACTGTAAAATCCAAGCCAATTG -3'

Posted On

2021-04-30