Mutagenetix > Incidental Mutation

Incidental Mutation 'R6102:Psme4'

485323

Institutional Source

Beutler Lab

Gene Symbol

Psme4

Ensembl Gene

ENSMUSG00000040850

Gene Name

proteasome (prosome, macropain) activator subunit 4

Synonyms

MMRRC Submission

044252-MU

Accession Numbers

Genbank: NM_134013

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6102 (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 30865567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1693 (L1693H)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000041231
AA Change: L1693H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: L1693H

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: ENSMUST00000155719

Meta Mutation Damage Score

0.8174

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

97% (65/67)

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
Alox12e	A	G	11: 70,320,023	I290T	possibly damaging	Het
Apeh	T	A	9: 108,086,439	D559V	probably damaging	Het
Aspm	T	A	1: 139,477,459	Y1361*	probably null	Het
Atad5	G	T	11: 80,111,572		probably null	Het
Ccr4	C	T	9: 114,496,493		probably null	Het
Clasrp	G	A	7: 19,586,468		probably benign	Het
Cldn23	A	G	8: 35,825,551	M261T	probably benign	Het
Cmya5	T	C	13: 93,094,231	M1450V	probably benign	Het
Cyp4v3	T	A	8: 45,320,160	E202V	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Dnah9	A	G	11: 65,990,516	S2578P	probably damaging	Het
Dsc2	T	A	18: 20,047,108	Y196F	probably benign	Het
Exoc1	T	C	5: 76,537,779	S113P	probably damaging	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Frs3	C	T	17: 47,702,671	H173Y	probably damaging	Het
Ginm1	G	T	10: 7,768,496	T323K	probably benign	Het
Golgb1	T	C	16: 36,912,865	S825P	probably damaging	Het
Hs3st3b1	A	T	11: 63,921,855	C11*	probably null	Het
Ighv3-3	G	C	12: 114,196,460	A110G	possibly damaging	Het
Igkv6-20	G	A	6: 70,335,869	H107Y	probably benign	Het
Kcnj16	A	G	11: 111,025,577	E355G	probably benign	Het
Lig4	C	T	8: 9,972,872	G303S	probably damaging	Het
Map1b	A	C	13: 99,425,873	V2443G	unknown	Het
Map3k6	T	C	4: 133,247,131		probably null	Het
Mmp13	A	G	9: 7,276,688	Q261R	probably benign	Het
Mphosph9	T	A	5: 124,297,709	I554F	possibly damaging	Het
Mrgpra3	A	T	7: 47,590,149	F10I	possibly damaging	Het
Ms4a18	G	A	19: 11,013,523	T69I	probably benign	Het
Mtmr3	T	C	11: 4,487,673	N927S	probably damaging	Het
Necab1	T	A	4: 14,989,211	Q188L	probably benign	Het
Nfatc2	A	G	2: 168,519,507		probably benign	Het
Olfr152	T	C	2: 87,782,848	F103L	probably damaging	Het
Olfr495	T	C	7: 108,395,284	S55P	probably damaging	Het
Olfr854	T	C	9: 19,567,022	M121V	possibly damaging	Het
Paip2b	A	C	6: 83,808,846	V134G	possibly damaging	Het
Pax3	T	C	1: 78,132,347	T225A	probably damaging	Het
Pbx1	C	A	1: 168,183,565	A298S	probably benign	Het
Pcdhac2	A	T	18: 37,146,282	K772*	probably null	Het
Pcsk4	A	T	10: 80,325,817	Y163*	probably null	Het
Plcd3	A	G	11: 103,080,644	V58A	probably damaging	Het
Plek2	T	A	12: 78,900,093	T57S	possibly damaging	Het
Plscr2	C	T	9: 92,287,668	T57I	probably benign	Het
Ppp2r5b	A	G	19: 6,234,738	S32P	probably benign	Het
Ppp3r2	C	T	4: 49,682,022		probably benign	Het
Rrbp1	T	A	2: 143,988,393	Q618L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Serpina3b	A	T	12: 104,134,169	T337S	probably benign	Het
Slc18a2	T	C	19: 59,293,878	Y506H	probably benign	Het
Slc9a9	A	G	9: 94,936,429	Y292C	probably benign	Het
Spta1	T	C	1: 174,224,520	V1840A	probably benign	Het
Ssb	T	C	2: 69,871,208	*416Q	probably null	Het
Strada	A	G	11: 106,168,436	V209A	probably benign	Het
Tbc1d31	A	T	15: 57,936,093	D225V	probably damaging	Het
Tgm4	T	C	9: 123,056,535	F381L	probably benign	Het
Tmem120b	T	A	5: 123,115,144	Y203N	probably damaging	Het
Tmem176b	A	G	6: 48,835,934	V109A	probably benign	Het
Tnfrsf11a	C	A	1: 105,819,946	L201M	possibly damaging	Het
Ttn	C	A	2: 76,974,350		probably null	Het
Tubb2a	T	C	13: 34,075,343	I155V	probably benign	Het
Vmn1r5	A	G	6: 56,986,114	D258G	probably damaging	Het
Vmn2r121	T	C	X: 124,133,575	T120A	probably benign	Het
Vmn2r19	A	T	6: 123,329,948	I472F	probably damaging	Het
Vwa3a	A	G	7: 120,776,138		probably null	Het
Zfp273	A	G	13: 67,822,347	Y5C	probably damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp825	A	G	13: 74,480,653	L248P	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
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'- TACCTGTGAAAGTAGAGTCAAGTTC -3'
(R):5'- CAGCTGTGAGAAGACACGTC -3'

Sequencing Primer
(F):5'- TGCTTGTATGTAATGTCATTGTCATC -3'
(R):5'- CTGTGAGAAGACACGTCAAGAACAC -3'

Posted On

2017-08-16