Mutagenetix > Incidental Mutation

Incidental Mutation 'R9428:Psmd4'

712721

Institutional Source

Beutler Lab

Gene Symbol

Psmd4

Ensembl Gene

ENSMUSG00000005625

Gene Name

proteasome (prosome, macropain) 26S subunit, non-ATPase, 4

Synonyms

angiocidin, Mcb1, Af1, multiubiquitin-chain-binding protein

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9428 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94939999-94949880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94940767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 332 (T332I)

Ref Sequence

ENSEMBL: ENSMUSP00000113554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071664] [ENSMUST00000107237] [ENSMUST00000117355] [ENSMUST00000140348]

AlphaFold

O35226

Predicted Effect

probably benign
Transcript: ENSMUST00000071664

SMART Domains

Protein: ENSMUSP00000071589
Gene: ENSMUSG00000005625

Domain	Start	End	E-Value	Type
VWA	2	188	7.38e-12	SMART
low complexity region	189	201	N/A	INTRINSIC
UIM	211	230	2.04e0	SMART
UIM	285	304	1.49e-2	SMART
low complexity region	307	320	N/A	INTRINSIC
low complexity region	367	379	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107237

SMART Domains

Protein: ENSMUSP00000102857
Gene: ENSMUSG00000005625

Domain	Start	End	E-Value	Type
VWA	2	188	7.38e-12	SMART
low complexity region	189	201	N/A	INTRINSIC
UIM	211	230	2.04e0	SMART
UIM	282	301	1.49e-2	SMART
low complexity region	304	317	N/A	INTRINSIC
low complexity region	364	376	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117355
AA Change: T332I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000113554
Gene: ENSMUSG00000005625
AA Change: T332I

Domain	Start	End	E-Value	Type
VWA	2	188	7.38e-12	SMART
low complexity region	189	201	N/A	INTRINSIC
UIM	211	230	2.04e0	SMART
UIM	285	304	1.49e-2	SMART
low complexity region	307	320	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140348

SMART Domains

Protein: ENSMUSP00000114545
Gene: ENSMUSG00000005625

Domain	Start	End	E-Value	Type
Pfam:UIM	34	42	2.4e-3	PFAM
UIM	100	119	1.49e-2	SMART
low complexity region	122	135	N/A	INTRINSIC
low complexity region	182	194	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality and abnormal embryogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Agmo	A	G	12: 37,455,330 (GRCm39)	I281M	probably benign	Het
Ahdc1	C	T	4: 132,791,773 (GRCm39)	P1005S	possibly damaging	Het
Akap12	T	A	10: 4,303,409 (GRCm39)	V178D	probably damaging	Het
Arc	A	G	15: 74,543,063 (GRCm39)	S387P	probably benign	Het
Arhgap11a	C	T	2: 113,667,279 (GRCm39)	V423I	probably benign	Het
Arhgap44	A	G	11: 64,899,168 (GRCm39)	S670P	probably damaging	Het
C4b	G	A	17: 34,949,885 (GRCm39)	T1433M	possibly damaging	Het
C4bp	A	T	1: 130,581,094 (GRCm39)	F138L	probably benign	Het
Carmil1	A	T	13: 24,295,834 (GRCm39)	C393*	probably null	Het
Cblif	A	G	19: 11,735,102 (GRCm39)	T241A	probably benign	Het
Celsr1	A	T	15: 85,815,549 (GRCm39)	V1822E	possibly damaging	Het
Chgb	C	G	2: 132,635,154 (GRCm39)	S365R	probably damaging	Het
Cnih3	T	C	1: 181,180,857 (GRCm39)		probably benign	Het
Dcaf1	T	A	9: 106,735,528 (GRCm39)	D825E	possibly damaging	Het
Dlx3	T	C	11: 95,011,430 (GRCm39)	Y95H	probably benign	Het
Dmbt1	A	T	7: 130,668,208 (GRCm39)	E488V	unknown	Het
Espnl	A	G	1: 91,273,595 (GRCm39)	Y985C	probably damaging	Het
Frmpd2	T	C	14: 33,272,010 (GRCm39)	V1048A	probably damaging	Het
Fxn	A	T	19: 24,249,787 (GRCm39)	L100Q	probably damaging	Het
Gapvd1	T	A	2: 34,607,318 (GRCm39)	D560V	probably damaging	Het
Gm4924	T	A	10: 82,213,490 (GRCm39)	H429Q	unknown	Het
Gpr158	T	C	2: 21,787,972 (GRCm39)	F538L	probably benign	Het
Itpr1	T	A	6: 108,378,308 (GRCm39)	M1278K	possibly damaging	Het
Ivd	T	A	2: 118,708,369 (GRCm39)	V361E	probably damaging	Het
Kcnh6	T	C	11: 105,899,821 (GRCm39)	L30P	probably damaging	Het
Lipo4	C	T	19: 33,495,074 (GRCm39)	V35I	probably benign	Het
Lmo7	A	G	14: 102,155,076 (GRCm39)	D1200G	probably damaging	Het
Med1	T	A	11: 98,080,049 (GRCm39)	R31*	probably null	Het
Mill2	A	T	7: 18,573,950 (GRCm39)	R12*	probably null	Het
Mphosph8	A	G	14: 56,934,114 (GRCm39)		probably null	Het
Mtfr2	T	A	10: 20,233,039 (GRCm39)	S203T	possibly damaging	Het
Muc5ac	A	C	7: 141,362,559 (GRCm39)	T1957P	unknown	Het
Mxi1	C	A	19: 53,299,213 (GRCm39)	P28Q	probably benign	Het
Mycbpap	T	C	11: 94,393,995 (GRCm39)	D367G	probably damaging	Het
Nav3	T	C	10: 109,605,176 (GRCm39)	T966A	probably benign	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Ndst2	A	T	14: 20,775,470 (GRCm39)	F673L	possibly damaging	Het
Ndst3	T	A	3: 123,340,518 (GRCm39)	I767F	probably benign	Het
Nell1	A	T	7: 50,503,683 (GRCm39)	D696V	probably damaging	Het
Nol9	A	T	4: 152,124,109 (GRCm39)	T100S	probably benign	Het
Nr4a1	T	C	15: 101,168,245 (GRCm39)	S94P	probably damaging	Het
Nrdc	T	C	4: 108,858,121 (GRCm39)	I31T	probably damaging	Het
Oas2	T	A	5: 120,887,576 (GRCm39)	D88V	probably damaging	Het
Or8w1	T	C	2: 87,465,774 (GRCm39)	I106V	probably benign	Het
Pex6	A	G	17: 47,022,991 (GRCm39)	H189R	probably benign	Het
Pgap1	A	G	1: 54,575,206 (GRCm39)	S239P	probably damaging	Het
Pheta1	C	T	5: 121,991,147 (GRCm39)	P170S	possibly damaging	Het
Plec	A	G	15: 76,067,721 (GRCm39)		probably null	Het
Plekhg5	T	C	4: 152,192,780 (GRCm39)	V582A	probably benign	Het
Plekhh2	G	T	17: 84,873,841 (GRCm39)	E375D	probably benign	Het
Pramel55	G	T	5: 95,949,545 (GRCm39)	R97S	probably damaging	Het
Prp2rt	A	G	13: 97,235,724 (GRCm39)	S8P	probably benign	Het
Ptprc	T	A	1: 138,041,485 (GRCm39)	T76S	probably benign	Het
Rab44	A	T	17: 29,358,315 (GRCm39)	I168L		Het
Ros1	T	C	10: 51,958,061 (GRCm39)	T1872A	probably benign	Het
Scgb1b24	A	T	7: 33,443,493 (GRCm39)	K51*	probably null	Het
Scube2	A	T	7: 109,428,345 (GRCm39)	D509E	probably benign	Het
Sgo2b	A	T	8: 64,393,067 (GRCm39)	S123R	probably damaging	Het
Smc3	G	C	19: 53,617,150 (GRCm39)	R521P	possibly damaging	Het
Socs4	G	A	14: 47,528,034 (GRCm39)	R323H	probably damaging	Het
Socs5	T	A	17: 87,441,067 (GRCm39)	D2E	probably benign	Het
Sra1	A	G	18: 36,810,299 (GRCm39)	V121A	probably damaging	Het
Stimate	T	C	14: 30,594,645 (GRCm39)	S253P	probably benign	Het
Tanc1	T	C	2: 59,601,548 (GRCm39)	L143P	probably damaging	Het
Tcerg1l	A	T	7: 137,811,490 (GRCm39)	F568Y	probably damaging	Het
Trpm7	T	C	2: 126,671,140 (GRCm39)	E614G	probably damaging	Het
Tuba4a	G	T	1: 75,192,686 (GRCm39)	H337Q		Het
Tubgcp6	G	A	15: 88,985,100 (GRCm39)	H1663Y	probably damaging	Het
Ush2a	A	G	1: 188,175,316 (GRCm39)	Y1138C	probably damaging	Het
Vmn1r18	A	T	6: 57,367,535 (GRCm39)	N6K	possibly damaging	Het
Vmn1r213	G	A	13: 23,195,944 (GRCm39)	A176T		Het
Vmn1r215	A	T	13: 23,260,749 (GRCm39)	H263L	probably benign	Het
Vmn2r51	CGGCCAATAGAAGAAACTTTTACCTTCAAGCAGTGAGAACTGGC	CGGC	7: 9,833,712 (GRCm39)		probably benign	Het
Wdhd1	A	C	14: 47,489,427 (GRCm39)	L702*	probably null	Het
Zc3h12a	T	C	4: 125,020,558 (GRCm39)	E95G	probably benign	Het

Other mutations in Psmd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02396:Psmd4	APN	3	94,943,221 (GRCm39)	missense	probably damaging	1.00
R0173:Psmd4	UTSW	3	94,940,234 (GRCm39)	missense	probably damaging	1.00
R1962:Psmd4	UTSW	3	94,944,012 (GRCm39)	missense	possibly damaging	0.89
R2907:Psmd4	UTSW	3	94,941,273 (GRCm39)	missense	probably damaging	0.99
R3781:Psmd4	UTSW	3	94,944,039 (GRCm39)	missense	probably benign	0.09
R3783:Psmd4	UTSW	3	94,942,562 (GRCm39)	missense	possibly damaging	0.85
R4902:Psmd4	UTSW	3	94,943,170 (GRCm39)	missense	probably damaging	0.98
R5090:Psmd4	UTSW	3	94,942,559 (GRCm39)	missense	possibly damaging	0.53
R8031:Psmd4	UTSW	3	94,943,203 (GRCm39)	missense	probably damaging	1.00
R9221:Psmd4	UTSW	3	94,942,604 (GRCm39)	missense	probably damaging	1.00
R9312:Psmd4	UTSW	3	94,940,729 (GRCm39)	missense	probably benign	0.00
R9464:Psmd4	UTSW	3	94,940,735 (GRCm39)	missense	probably benign	0.02
X0024:Psmd4	UTSW	3	94,944,028 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCACAGAACTGTTAGGGATGG -3'
(R):5'- TGAGGAAGAGCAGATCGCCTAC -3'

Sequencing Primer
(F):5'- ATGGAGATGACAGGCCACTCC -3'
(R):5'- TACGCCATGCAGATGTCC -3'

Posted On

2022-05-16