Mutagenetix > Incidental Mutation

Incidental Mutation 'R4584:Psme4'

343935

Institutional Source

Beutler Lab

Gene Symbol

Psme4

Ensembl Gene

ENSMUSG00000040850

Gene Name

proteasome (prosome, macropain) activator subunit 4

Synonyms

MMRRC Submission

041805-MU

Accession Numbers

Genbank: NM_134013

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30771726-30880361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30834318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 964 (H964Q)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000041231
AA Change: H964Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: H964Q

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: ENSMUST00000142217

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150219

Meta Mutation Damage Score

0.2431

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (86/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,160,017	N343D	probably damaging	Het
9530002B09Rik	T	A	4: 122,701,186	D78E	possibly damaging	Het
A2m	C	A	6: 121,657,406	D632E	probably benign	Het
Alpk2	A	G	18: 65,306,964	S453P	probably damaging	Het
Birc2	A	T	9: 7,833,674	F269I	probably damaging	Het
Ccdc66	G	A	14: 27,500,511	P92S	probably benign	Het
Cdc34	T	A	10: 79,688,035	D108E	possibly damaging	Het
Cdk5rap2	A	C	4: 70,266,760	V1151G	probably damaging	Het
Cemip	T	C	7: 83,958,539	K753R	probably damaging	Het
Cep295	A	T	9: 15,334,799	L787Q	possibly damaging	Het
Cideb	T	C	14: 55,758,270	N8S	probably benign	Het
Dagla	A	G	19: 10,271,009	Y96H	probably damaging	Het
Dapl1	C	A	2: 59,504,742	T80K	possibly damaging	Het
Ddx6	T	C	9: 44,624,487	V171A	probably damaging	Het
Dnah12	C	A	14: 26,772,594	T34K	probably damaging	Het
Dnhd1	T	C	7: 105,678,049	L735P	probably damaging	Het
Ep400	T	A	5: 110,733,897		probably benign	Het
Erlin1	G	T	19: 44,069,319	Y22*	probably null	Het
Gm11127	A	T	17: 36,057,667	M123K	probably damaging	Het
Gm13212	T	A	4: 145,617,177		probably null	Het
Gm5771	T	C	6: 41,396,767	L188P	probably benign	Het
Gmcl1	A	G	6: 86,722,623	S141P	probably damaging	Het
Gtf2a1	C	T	12: 91,562,926	V338I	possibly damaging	Het
Ighv1-66	T	A	12: 115,593,396	Q22L	possibly damaging	Het
Igkv4-80	T	C	6: 69,016,736	Y57C	probably damaging	Het
Itpk1	G	A	12: 102,570,157	A410V	possibly damaging	Het
Itsn1	T	A	16: 91,820,583		probably benign	Het
Kcnk3	G	T	5: 30,588,386	A24S	probably damaging	Het
Kif20a	A	G	18: 34,632,611	Y887C	probably damaging	Het
Klf13	T	C	7: 63,937,970	T193A	possibly damaging	Het
Klhl9	G	T	4: 88,721,907	H32Q	probably damaging	Het
Kndc1	C	G	7: 139,901,243	P82A	probably damaging	Het
Llgl1	T	A	11: 60,712,082	L861Q	probably damaging	Het
Lpcat2	A	G	8: 92,889,371	E305G	probably damaging	Het
Mib2	C	A	4: 155,657,287	A293S	probably damaging	Het
Mtfr1	A	G	3: 19,215,602	E138G	probably damaging	Het
Myoz1	A	G	14: 20,650,595	W185R	probably damaging	Het
Ninj1	T	A	13: 49,193,966		probably null	Het
Nlgn2	A	T	11: 69,834,278	V54E	possibly damaging	Het
Nlrc5	A	C	8: 94,477,275	I668L	probably damaging	Het
Npy6r	T	A	18: 44,276,195	C228S	probably damaging	Het
Nufip2	T	C	11: 77,741,728	V690A	unknown	Het
Nup107	T	C	10: 117,766,368	I513M	probably benign	Het
Oit3	T	C	10: 59,425,462	D461G	probably damaging	Het
Olfr324	T	A	11: 58,598,004	F205I	probably benign	Het
Paxbp1	T	C	16: 91,034,123	D455G	probably damaging	Het
Pcdh7	A	T	5: 57,721,283	T727S	probably damaging	Het
Pex14	G	A	4: 148,970,596	A113V	probably damaging	Het
Phc3	A	G	3: 30,965,882	V23A	possibly damaging	Het
Plec	T	C	15: 76,231,206	D56G	possibly damaging	Het
Plekha7	C	A	7: 116,237,533		probably benign	Het
Prdm16	T	C	4: 154,337,683	E885G	probably damaging	Het
Psd2	A	G	18: 36,012,828	T762A	probably benign	Het
Rbak	C	T	5: 143,176,123	V51I	probably benign	Het
Rbfa	A	G	18: 80,200,506	L15P	probably benign	Het
Ren1	T	C	1: 133,354,808	Y84H	probably damaging	Het
Rps6ka5	A	T	12: 100,581,318	I311N	probably damaging	Het
Samd14	T	A	11: 95,021,535		probably null	Het
Scaf4	T	C	16: 90,229,515		probably benign	Het
Serpina12	A	T	12: 104,038,352	L7Q	unknown	Het
Serpinb9d	A	T	13: 33,200,616	E192V	probably damaging	Het
Slc22a29	A	T	19: 8,169,291	F382L	probably benign	Het
Snta1	T	A	2: 154,378,115	D375V	probably benign	Het
Stat5b	T	A	11: 100,787,238	Y683F	probably damaging	Het
Strip1	A	T	3: 107,624,503	Y257N	probably benign	Het
Sugp2	A	G	8: 70,251,898	H695R	probably benign	Het
Svep1	T	A	4: 58,068,526	R3087*	probably null	Het
Syngr2	T	C	11: 117,813,121	V138A	probably damaging	Het
Thra	T	C	11: 98,764,484	F397L	probably benign	Het
Tmem45b	T	A	9: 31,428,655	I149F	probably damaging	Het
Tmprss11f	C	T	5: 86,539,694		probably null	Het
Ush2a	C	T	1: 188,451,798	T1433I	probably benign	Het
Vmn2r109	A	T	17: 20,554,558	Y178*	probably null	Het
Vmn2r84	T	G	10: 130,390,713	M419L	probably benign	Het
Wnk2	C	T	13: 49,090,837	D508N	probably damaging	Het
Zfp276	A	G	8: 123,268,406		probably benign	Het
Zfp568	T	G	7: 29,998,192	F100V	probably benign	Het
Zfp667	T	A	7: 6,290,625	D41E	possibly 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
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'- TGACAGAGTGATGCTGCAGC -3'
(R):5'- TTGCACACTAAGGCAAGATTTC -3'

Sequencing Primer
(F):5'- GCATGAGGCAAGTATCTTAATAGTC -3'
(R):5'- AAAGGTATTTCTAATGTCATTGGGG -3'

Posted On

2015-09-24