Mutagenetix > Incidental Mutation

Incidental Mutation 'R7681:Psme4'

592770

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 #

R7681 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30771726-30880361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30791975 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 146 (Y146C)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041231
AA Change: Y146C

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: Y146C

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

SMART Domains

Protein: ENSMUSP00000119133
Gene: ENSMUSG00000040850
AA Change: Y154C

Domain	Start	End	E-Value	Type
low complexity region	131	142	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (58/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,849,619	A963V	probably benign	Het
Agbl1	T	C	7: 76,444,901	V760A	unknown	Het
Akap13	T	C	7: 75,728,796	F347L	possibly damaging	Het
Anapc5	A	T	5: 122,802,139	F356L	probably benign	Het
Bmp6	A	G	13: 38,346,195	H88R	probably damaging	Het
Cblb	C	A	16: 52,204,638	S921R	probably damaging	Het
Ccs	T	A	19: 4,832,830		probably null	Het
Cyp20a1	A	G	1: 60,353,033	T83A	probably benign	Het
Defa25	T	A	8: 21,084,519	D26E	probably benign	Het
Dmwd	T	A	7: 19,081,082	N552K	probably benign	Het
Dnah17	C	T	11: 118,025,186	V4297M	probably damaging	Het
Fam135a	A	T	1: 24,067,915	S47R	probably benign	Het
Fbxo41	A	T	6: 85,478,479	C574*	probably null	Het
Fgb	T	C	3: 83,049,832		probably benign	Het
Fgfr1	C	T	8: 25,555,661	T82I	probably damaging	Het
Fhod3	T	A	18: 24,990,038	L262M	probably damaging	Het
Galnt16	A	T	12: 80,590,639	Q380L	probably damaging	Het
Glp2r	C	T	11: 67,709,679	G448D	probably benign	Het
Gm8765	C	T	13: 50,702,254	P643S	possibly damaging	Het
Gnb4	C	A	3: 32,587,753	A242S	possibly damaging	Het
Golim4	T	C	3: 75,887,024		probably null	Het
Grik2	G	T	10: 49,244,380	N604K	probably damaging	Het
Hnf1b	T	G	11: 83,889,146	I435S	probably damaging	Het
Hoxa11	C	T	6: 52,245,119	G201S	probably benign	Het
Hpse	A	G	5: 100,691,391	S364P	possibly damaging	Het
Kif16b	A	T	2: 142,756,126	N525K	probably damaging	Het
Kif1a	A	T	1: 93,054,944	C704S	probably benign	Het
Limk2	A	G	11: 3,353,354	S322P	probably damaging	Het
Lrp1b	A	T	2: 40,874,999	C2938*	probably null	Het
Malrd1	A	G	2: 16,218,102	R2071G	unknown	Het
Man2a2	T	A	7: 80,351,749	I1137F	possibly damaging	Het
Map2k6	C	T	11: 110,497,903	R224*	probably null	Het
Map3k4	G	A	17: 12,318,543	P29L	unknown	Het
Morn5	A	T	2: 36,057,144	N145Y	possibly damaging	Het
Muc20	T	C	16: 32,793,619	T463A	probably benign	Het
Myh10	C	T	11: 68,771,936	T642I	probably damaging	Het
Myh14	C	A	7: 44,624,148	R1362L	possibly damaging	Het
Nup88	C	A	11: 70,969,885	V23L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1221	A	C	2: 89,111,591	V307G	probably benign	Het
Olfr1340	A	G	4: 118,726,564	I106V	probably benign	Het
Olfr477	T	C	7: 107,991,148	M261T	possibly damaging	Het
Pabpn1	T	C	14: 54,898,042	Y299H	probably damaging	Het
Pak4	T	C	7: 28,560,230	E514G	probably damaging	Het
Ppp1r12b	A	C	1: 134,865,935	S564A	probably benign	Het
Psmc2	T	C	5: 21,803,274		probably null	Het
Rb1cc1	A	G	1: 6,240,323	D315G	probably damaging	Het
Rilpl1	A	G	5: 124,530,913	V24A	possibly damaging	Het
Rtel1	A	T	2: 181,322,394	H62L	probably damaging	Het
Ruvbl1	G	A	6: 88,467,653		probably null	Het
Scn5a	A	G	9: 119,529,977	V668A	probably benign	Het
Slc22a6	G	A	19: 8,626,129	G519E	probably benign	Het
Slc43a2	T	A	11: 75,563,673	I348N	probably benign	Het
Slc6a16	T	A	7: 45,260,914	L347Q	probably damaging	Het
Smg6	T	A	11: 74,931,705	L658H	probably damaging	Het
Spidr	C	A	16: 15,895,624	G832W	probably damaging	Het
Ssrp1	G	A	2: 85,045,748	G616E	probably benign	Het
Sult1b1	G	A	5: 87,530,636	L110F	probably damaging	Het
Tfec	T	A	6: 16,834,236	H224L	probably benign	Het
Ttn	C	T	2: 76,708,951	E34564K	probably benign	Het
Washc2	A	G	6: 116,260,657	D1285G	probably damaging	Het
Zfp870	T	C	17: 32,882,690	E555G	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
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'- TTCTACCAGTGACAGGCAAAAC -3'
(R):5'- TAAGGATGACTGTTGAGATGTCTC -3'

Sequencing Primer
(F):5'- CACCCACACTGTGATTACCTG -3'
(R):5'- CAACCTGGTCTACATACATGGTGG -3'

Posted On

2019-11-12