Mutagenetix > Incidental Mutation

Incidental Mutation 'R1907:Psme4'

214491

Institutional Source

Beutler Lab

Gene Symbol

Psme4

Ensembl Gene

ENSMUSG00000040850

Gene Name

proteasome (prosome, macropain) activator subunit 4

Synonyms

MMRRC Submission

039926-MU

Accession Numbers

Genbank: NM_134013

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30771726-30880361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30810922 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 397 (V397A)

Ref Sequence

ENSEMBL: ENSMUSP00000045460 (fasta)

Gene Model

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

AlphaFold

Q5SSW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000041231
AA Change: V397A

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

SMART Domains

Protein: ENSMUSP00000045460
Gene: ENSMUSG00000040850
AA Change: V397A

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: ENSMUST00000133430

Meta Mutation Damage Score

0.8178

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

98% (104/106)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	A	3: 122,069,012	S206R	probably damaging	Het
Abcc6	G	T	7: 46,014,169	A357E	probably benign	Het
Abhd13	T	A	8: 9,988,170	C256S	probably benign	Het
Actrt3	A	G	3: 30,598,567	V126A	probably damaging	Het
Adgrv1	A	G	13: 81,592,551		probably benign	Het
Alyref2	A	G	1: 171,504,270	D205G	probably damaging	Het
Amigo3	G	A	9: 108,053,636	R86Q	probably benign	Het
Ankrd50	G	C	3: 38,454,052	P1389A	probably damaging	Het
Aoah	A	G	13: 20,910,094	D183G	probably damaging	Het
Arap3	A	T	18: 37,996,671	S146T	probably benign	Het
Atp2c2	T	C	8: 119,749,876		probably benign	Het
Atp8b2	C	T	3: 89,946,276	V682M	probably benign	Het
Cacna1i	T	C	15: 80,375,264	I1245T	probably damaging	Het
Card14	A	G	11: 119,331,259	N460S	probably benign	Het
Ceacam5	A	G	7: 17,752,384	D602G	possibly damaging	Het
Cecr2	T	A	6: 120,761,160	H921Q	probably benign	Het
Cyb5d1	T	C	11: 69,394,740	D115G	probably benign	Het
Dbp	C	T	7: 45,708,320	T67I	possibly damaging	Het
Dennd5b	C	T	6: 149,041,576	V601I	probably benign	Het
Dnah11	G	A	12: 118,127,556	A947V	possibly damaging	Het
Dpysl3	T	A	18: 43,438,128	D27V	probably damaging	Het
Drd1	A	T	13: 54,053,252	D307E	possibly damaging	Het
Dscaml1	G	A	9: 45,740,480	G277D	probably damaging	Het
Eif4g3	C	T	4: 138,158,415	R842W	probably damaging	Het
Enam	C	T	5: 88,504,622	T1330I	possibly damaging	Het
Fabp6	T	C	11: 43,596,167		probably null	Het
Fam160a1	T	C	3: 85,672,633	D755G	probably benign	Het
Fsip2	C	T	2: 82,983,428	P3364S	possibly damaging	Het
Fuk	A	T	8: 110,893,378	L289*	probably null	Het
Gad1	C	T	2: 70,579,138	S191F	possibly damaging	Het
Gcm1	A	C	9: 78,064,773	N332T	probably benign	Het
Gin1	G	A	1: 97,775,447		probably benign	Het
Gpr25	T	C	1: 136,260,800	D25G	probably benign	Het
Gstm4	T	C	3: 108,041,277	T172A	probably benign	Het
Hnrnpll	A	G	17: 80,035,329		probably null	Het
Il12rb2	T	A	6: 67,295,286	K339*	probably null	Het
Inpp1	A	G	1: 52,789,670	*397Q	probably null	Het
Kcp	G	T	6: 29,497,835		probably benign	Het
Kdm1b	G	A	13: 47,064,120	V352I	probably benign	Het
Klhdc2	G	T	12: 69,296,960		probably benign	Het
Krt75	T	A	15: 101,573,366	T156S	possibly damaging	Het
Lag3	T	A	6: 124,909,487	I168F	possibly damaging	Het
Lama4	T	G	10: 39,072,758	V839G	probably benign	Het
Lmtk2	G	T	5: 144,175,110	V883L	probably benign	Het
Lrrc37a	C	A	11: 103,457,156	K2904N	unknown	Het
Macf1	A	T	4: 123,372,399	I4775N	probably damaging	Het
Map2k3	T	G	11: 60,932,229	S3A	possibly damaging	Het
Mast1	G	A	8: 84,916,266	R967C	probably damaging	Het
Mettl2	T	G	11: 105,126,840	S59A	probably benign	Het
Mtr	G	A	13: 12,225,532	T530I	probably damaging	Het
Myo7b	A	T	18: 31,976,999	C1137S	possibly damaging	Het
Nacad	T	A	11: 6,602,540	H217L	probably benign	Het
Ncstn	A	T	1: 172,072,143	V324E	probably damaging	Het
Ndufaf7	C	A	17: 78,942,117	H148N	possibly damaging	Het
Olfr1048	T	C	2: 86,236,110	K242E	possibly damaging	Het
Olfr517	T	A	7: 108,868,498	I219F	possibly damaging	Het
Olfr628	T	A	7: 103,731,983	I19N	probably damaging	Het
Olfr667	G	A	7: 104,917,065	T77I	probably damaging	Het
Olfr834	T	C	9: 18,988,441	I151T	possibly damaging	Het
Olfr874	T	G	9: 37,746,433	L100V	probably benign	Het
Pcdh20	T	C	14: 88,468,704	I387V	probably benign	Het
Pclo	A	G	5: 14,678,511		probably benign	Het
Pcp2	G	A	8: 3,624,904		probably benign	Het
Pde1a	T	A	2: 79,868,307	D393V	probably damaging	Het
Pias4	T	C	10: 81,154,363	D421G	possibly damaging	Het
Pign	T	C	1: 105,638,215	T362A	possibly damaging	Het
Pik3c2g	A	C	6: 139,844,042	K304Q	probably damaging	Het
Pkd2	T	A	5: 104,486,806	W568R	probably damaging	Het
Pld2	T	A	11: 70,544,184	I306N	probably damaging	Het
Plppr3	T	C	10: 79,874,069	K9R	probably damaging	Het
Pramef6	T	A	4: 143,895,491	R431S	possibly damaging	Het
Ptbp2	A	T	3: 119,761,749	S23R	probably damaging	Het
Ptpn13	A	G	5: 103,580,709	D2074G	probably null	Het
Rab34	T	A	11: 78,191,255	L166H	probably damaging	Het
Rabgap1l	T	A	1: 160,645,310	R519S	probably benign	Het
Rasa1	A	T	13: 85,226,572	L218*	probably null	Het
Reln	A	G	5: 22,044,962		probably null	Het
Rer1	T	C	4: 155,078,499	D94G	possibly damaging	Het
Rhpn1	T	C	15: 75,711,824	V386A	probably benign	Het
Samd3	T	A	10: 26,271,856	C476*	probably null	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sipa1l3	A	G	7: 29,339,167	S352P	possibly damaging	Het
Slc27a2	A	G	2: 126,586,342	Y549C	probably benign	Het
Slc7a9	A	G	7: 35,449,854	T7A	probably benign	Het
Slco4c1	C	T	1: 96,842,499	G280D	probably damaging	Het
Snx19	T	A	9: 30,433,576	V657E	probably damaging	Het
Spata31d1c	A	G	13: 65,035,876	M411V	probably benign	Het
Spice1	T	A	16: 44,357,830	L72*	probably null	Het
Stard9	G	T	2: 120,713,812	V4471L	probably damaging	Het
Syt14	A	G	1: 192,901,835	L707P	probably damaging	Het
Tab1	T	C	15: 80,153,668	I234T	probably damaging	Het
Tas2r107	T	C	6: 131,659,988	M33V	probably benign	Het
Tbx4	T	A	11: 85,914,523	S479R	possibly damaging	Het
Tssk5	C	T	15: 76,372,893	R263Q	probably benign	Het
Ttn	T	C	2: 76,870,856		probably benign	Het
Ugt2b5	T	A	5: 87,139,630	Q226L	probably benign	Het
Ush2a	C	T	1: 188,715,064	S2483L	probably benign	Het
Wdr95	A	G	5: 149,552,426	Y63C	probably damaging	Het
Xirp2	A	G	2: 67,516,356	I2980M	probably damaging	Het
Yeats4	G	A	10: 117,215,731	T207I	probably benign	Het
Ythdc1	A	G	5: 86,830,630	R561G	probably damaging	Het
Zbtb14	G	A	17: 69,387,390	E28K	possibly damaging	Het
Zfp931	A	T	2: 178,069,891	L21Q	probably damaging	Het
Zyg11b	A	C	4: 108,255,226	M415R	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
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
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'- GTTGAACCTGAGTAGAACCTATTG -3'
(R):5'- GTACAGAAGACATATGTAAGCACTG -3'

Sequencing Primer
(F):5'- AGAACCTATTGTTTCTATGTTCCCAG -3'
(R):5'- ACATGTGTGCCTGGTACCCAC -3'

Posted On

2014-07-14