Mutagenetix > Incidental Mutation

Incidental Mutation 'R9221:Psmd4'

699446

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 #

R9221 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94939999-94949880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94942604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 105 (H105R)

Ref Sequence

ENSEMBL: ENSMUSP00000071589 (fasta)

Gene Model

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

AlphaFold

O35226

Predicted Effect

probably damaging
Transcript: ENSMUST00000071664
AA Change: H105R

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

SMART Domains

Protein: ENSMUSP00000071589
Gene: ENSMUSG00000005625
AA Change: H105R

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 damaging
Transcript: ENSMUST00000107237
AA Change: H105R

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

SMART Domains

Protein: ENSMUSP00000102857
Gene: ENSMUSG00000005625
AA Change: H105R

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 damaging
Transcript: ENSMUST00000117355
AA Change: H105R

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

SMART Domains

Protein: ENSMUSP00000113554
Gene: ENSMUSG00000005625
AA Change: H105R

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: 99.5%
20x: 98.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,921,828 (GRCm39)	D1128G	probably damaging	Het
Acsm3	A	T	7: 119,368,131 (GRCm39)	R116*	probably null	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,989,943 (GRCm39)	D3742E	probably damaging	Het
Arhgef17	A	G	7: 100,528,818 (GRCm39)	S598P	possibly damaging	Het
Asxl2	T	C	12: 3,552,310 (GRCm39)	F1351L	probably damaging	Het
Atg7	C	T	6: 114,672,588 (GRCm39)	T267I	possibly damaging	Het
Bace2	A	G	16: 97,209,692 (GRCm39)	K202R	probably benign	Het
Bccip	G	T	7: 133,311,249 (GRCm39)	V55L	probably benign	Het
Bpifa1	T	A	2: 153,988,052 (GRCm39)	H198Q	possibly damaging	Het
Btbd7	A	G	12: 102,777,430 (GRCm39)	Y466H	probably damaging	Het
Cdc45	A	C	16: 18,605,521 (GRCm39)	S480A	probably benign	Het
Cenpe	T	C	3: 134,935,839 (GRCm39)	Y425H	possibly damaging	Het
Cep76	A	C	18: 67,767,977 (GRCm39)	M185R	probably damaging	Het
Chd5	G	T	4: 152,456,122 (GRCm39)	M930I	probably damaging	Het
Clstn2	G	T	9: 97,343,395 (GRCm39)	T684K	probably benign	Het
Col4a2	A	G	8: 11,491,943 (GRCm39)	N1270S	possibly damaging	Het
Crxos	A	G	7: 15,636,850 (GRCm39)	H141R	probably benign	Het
Dcc	A	G	18: 71,553,433 (GRCm39)	I741T	possibly damaging	Het
Ddx20	A	T	3: 105,587,685 (GRCm39)	C430*	probably null	Het
Dgki	G	A	6: 37,273,615 (GRCm39)	T12M	probably benign	Het
Dock6	T	C	9: 21,721,153 (GRCm39)	N1676S	possibly damaging	Het
Exosc6	G	A	8: 111,783,028 (GRCm39)	R9H	probably damaging	Het
Fstl5	A	G	3: 76,569,114 (GRCm39)	Q589R	probably damaging	Het
Gm4846	T	A	1: 166,324,959 (GRCm39)	Y44F	probably benign	Het
Gpr15lg	A	G	14: 36,829,352 (GRCm39)	S44P	probably damaging	Het
Gtf3c2	A	C	5: 31,326,401 (GRCm39)	I370R	probably damaging	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hspg2	A	G	4: 137,287,726 (GRCm39)	M3696V	possibly damaging	Het
Itga1	A	T	13: 115,166,695 (GRCm39)	C167*	probably null	Het
Khdc4	T	C	3: 88,593,853 (GRCm39)	S81P	probably benign	Het
Kpna2	A	G	11: 106,880,158 (GRCm39)	S497P	probably damaging	Het
Krt77	T	A	15: 101,774,064 (GRCm39)	T197S	probably damaging	Het
Krtap6-5	T	C	16: 88,844,655 (GRCm39)	Y26C	unknown	Het
Lhfpl5	A	T	17: 28,799,133 (GRCm39)	D214V	possibly damaging	Het
Lrrtm1	A	G	6: 77,221,596 (GRCm39)	E351G	probably damaging	Het
Mphosph9	A	G	5: 124,403,427 (GRCm39)	V867A	probably benign	Het
Mtcl1	T	A	17: 66,650,879 (GRCm39)	M1529L	probably benign	Het
Mthfr	A	T	4: 148,132,626 (GRCm39)	Q268L	probably damaging	Het
Myo1d	A	T	11: 80,565,744 (GRCm39)	N360K	probably damaging	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Or1e33	A	T	11: 73,738,108 (GRCm39)	V281E	probably damaging	Het
Or4p8	T	C	2: 88,727,255 (GRCm39)	S229G	probably benign	Het
Or5an1b	A	T	19: 12,299,336 (GRCm39)	M285K	probably damaging	Het
Or5m11	T	A	2: 85,782,185 (GRCm39)	Y259*	probably null	Het
P2rx5	A	T	11: 73,062,655 (GRCm39)	T455S	probably damaging	Het
Palld	A	T	8: 61,969,591 (GRCm39)	F1244L	unknown	Het
Pbld1	A	G	10: 62,907,829 (GRCm39)	T125A		Het
Pde3b	G	A	7: 114,014,697 (GRCm39)		probably benign	Het
Pfkm	T	C	15: 98,019,188 (GRCm39)	S180P	probably damaging	Het
Pla2g4d	T	A	2: 120,100,453 (GRCm39)	R626S	possibly damaging	Het
Postn	A	G	3: 54,282,515 (GRCm39)	E492G	possibly damaging	Het
Prph2	A	G	17: 47,230,818 (GRCm39)	D237G	probably damaging	Het
Pygl	T	C	12: 70,242,401 (GRCm39)	N685S	probably damaging	Het
Rp1	A	G	1: 4,315,266 (GRCm39)	F502S	unknown	Het
Sik1	T	C	17: 32,066,167 (GRCm39)	I607V	probably benign	Het
Slc26a3	T	A	12: 31,513,470 (GRCm39)	I464N	possibly damaging	Het
Slc38a9	A	G	13: 112,825,910 (GRCm39)	N116S	probably damaging	Het
Sorcs2	C	A	5: 36,181,910 (GRCm39)		probably null	Het
Spink5	T	C	18: 44,119,367 (GRCm39)	L226P	probably damaging	Het
Tab1	G	A	15: 80,034,754 (GRCm39)	V180I	probably benign	Het
Tacc2	T	G	7: 130,226,058 (GRCm39)	S914R	probably damaging	Het
Tacc2	C	T	7: 130,226,209 (GRCm39)	R965C	probably benign	Het
Tlr9	A	G	9: 106,101,972 (GRCm39)	D421G	probably damaging	Het
Tmem181a	T	C	17: 6,307,265 (GRCm39)	L16P	probably damaging	Het
Trim58	A	T	11: 58,542,075 (GRCm39)	H345L	probably damaging	Het
Ttc13	G	A	8: 125,400,290 (GRCm39)	R688C	probably benign	Het
Ube2o	C	A	11: 116,433,664 (GRCm39)	V685L	probably damaging	Het
Uso1	A	G	5: 92,335,173 (GRCm39)	H511R	probably benign	Het
Vmn2r5	A	T	3: 64,411,721 (GRCm39)	Y282*	probably null	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
R9312:Psmd4	UTSW	3	94,940,729 (GRCm39)	missense	probably benign	0.00
R9428:Psmd4	UTSW	3	94,940,767 (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'- TCAGCATCCTACCAAAGGTCTG -3'
(R):5'- GGTCTTACACTCTGGTCCAC -3'

Sequencing Primer
(F):5'- AAGGTCTGGCCCCAACACTG -3'
(R):5'- TCTGGTCCACTTGAGGCACAAC -3'

Posted On

2022-02-07