Mutagenetix > Incidental Mutation

Incidental Mutation 'R5020:Psma4'

389147

Institutional Source

Beutler Lab

Gene Symbol

Psma4

Ensembl Gene

ENSMUSG00000032301

Gene Name

proteasome subunit alpha 4

Synonyms

MMRRC Submission

042611-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R5020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54858074-54865314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 54860056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 47 (A47E)

Ref Sequence

ENSEMBL: ENSMUSP00000132368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034848] [ENSMUST00000039742] [ENSMUST00000054018] [ENSMUST00000171900] [ENSMUST00000172407]

AlphaFold

Q9R1P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034848
AA Change: A47E

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

SMART Domains

Protein: ENSMUSP00000034848
Gene: ENSMUSG00000032301
AA Change: A47E

Domain	Start	End	E-Value	Type
Proteasome_A_N	5	27	1.6e-9	SMART
Pfam:Proteasome	28	216	1.5e-57	PFAM
low complexity region	238	261	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000039742

SMART Domains

Protein: ENSMUSP00000039980
Gene: ENSMUSG00000035878

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:APH	36	300	2.2e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000054018

SMART Domains

Protein: ENSMUSP00000049861
Gene: ENSMUSG00000044820

Domain	Start	End	E-Value	Type
low complexity region	14	36	N/A	INTRINSIC
transmembrane domain	105	127	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171578

Predicted Effect

probably damaging
Transcript: ENSMUST00000171900
AA Change: A47E

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

SMART Domains

Protein: ENSMUSP00000132368
Gene: ENSMUSG00000032301
AA Change: A47E

Domain	Start	End	E-Value	Type
Proteasome_A_N	5	27	1.6e-9	SMART
Pfam:Proteasome	28	139	1.2e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172407
AA Change: A47E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126844
Gene: ENSMUSG00000032301
AA Change: A47E

Domain	Start	End	E-Value	Type
Proteasome_A_N	5	27	1.6e-9	SMART
Pfam:Proteasome	28	210	3.2e-56	PFAM

Meta Mutation Damage Score

0.9525

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	A	T	7: 131,042,929 (GRCm39)		probably null	Het
Actl6a	A	G	3: 32,774,656 (GRCm39)	I340V	possibly damaging	Het
Alppl2	C	T	1: 87,017,431 (GRCm39)	V19I	probably benign	Het
Ankrd34c	T	C	9: 89,611,759 (GRCm39)	K194R	probably benign	Het
Anpep	T	A	7: 79,483,475 (GRCm39)	M672L	probably benign	Het
Arhgap31	T	C	16: 38,423,438 (GRCm39)	D876G	probably damaging	Het
Arid2	T	A	15: 96,269,869 (GRCm39)	N1327K	probably damaging	Het
Atp5f1d	C	A	10: 79,981,263 (GRCm39)	P101Q	probably benign	Het
Bcl7b	G	A	5: 135,200,017 (GRCm39)		probably null	Het
Brca2	A	T	5: 150,483,901 (GRCm39)	S2907C	probably damaging	Het
Ccser2	T	C	14: 36,662,134 (GRCm39)	E350G	probably benign	Het
Cdh23	G	T	10: 60,143,811 (GRCm39)	D2929E	probably damaging	Het
Clec2i	T	A	6: 128,870,621 (GRCm39)	V78E	probably benign	Het
Cpxm1	A	T	2: 130,237,897 (GRCm39)		probably null	Het
Crybg3	C	T	16: 59,375,159 (GRCm39)	V2032I	possibly damaging	Het
Eif5b	A	T	1: 38,058,150 (GRCm39)	K151*	probably null	Het
Gemin7	T	A	7: 19,299,348 (GRCm39)	E82D	possibly damaging	Het
Gm14496	A	G	2: 181,633,152 (GRCm39)	E45G	possibly damaging	Het
Gm21915	T	C	9: 40,581,966 (GRCm39)	S20P	probably damaging	Het
Gm8126	A	C	14: 43,119,026 (GRCm39)	E165A	probably damaging	Het
Grin2b	T	C	6: 135,710,405 (GRCm39)	D1047G	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ikbke	T	A	1: 131,201,397 (GRCm39)	Y150F	probably damaging	Het
Inhca	T	C	9: 103,159,701 (GRCm39)	D70G	probably benign	Het
Itih5	T	A	2: 10,245,315 (GRCm39)		probably null	Het
Lrig2	T	C	3: 104,365,217 (GRCm39)	Q645R	possibly damaging	Het
Map4	A	G	9: 109,897,868 (GRCm39)	M712V	probably benign	Het
Mecom	A	G	3: 30,015,255 (GRCm39)	S823P	probably damaging	Het
Mettl25	A	G	10: 105,662,068 (GRCm39)	Y301H	possibly damaging	Het
Mga	A	T	2: 119,781,654 (GRCm39)	K2136*	probably null	Het
Mmp24	A	G	2: 155,652,204 (GRCm39)	E304G	probably benign	Het
Mmp3	T	A	9: 7,445,984 (GRCm39)	D29E	probably benign	Het
Nbas	T	A	12: 13,424,713 (GRCm39)	I984N	probably damaging	Het
Nedd9	A	G	13: 41,469,270 (GRCm39)	Y628H	probably damaging	Het
Nlrp2	C	T	7: 5,331,076 (GRCm39)	C440Y	probably damaging	Het
Or4g16	T	C	2: 111,136,637 (GRCm39)	V29A	probably benign	Het
Or6p1	T	G	1: 174,258,237 (GRCm39)	L81R	probably damaging	Het
P4ha2	T	C	11: 54,022,016 (GRCm39)	V513A	probably damaging	Het
Pcsk4	T	C	10: 80,161,869 (GRCm39)	N124S	probably benign	Het
Phf12	T	C	11: 77,914,622 (GRCm39)	F139S	probably damaging	Het
Phlpp2	T	A	8: 110,666,714 (GRCm39)	L1081H	probably damaging	Het
Phospho2	T	A	2: 69,626,323 (GRCm39)	F160I	probably damaging	Het
Plch2	T	G	4: 155,091,540 (GRCm39)	D115A	probably damaging	Het
Plekho1	A	G	3: 95,896,851 (GRCm39)	F215S	probably damaging	Het
Rasa4	A	C	5: 136,130,153 (GRCm39)	Q303P	probably damaging	Het
Rbmxl2	C	T	7: 106,809,414 (GRCm39)	P233L	probably damaging	Het
Reln	A	T	5: 22,239,636 (GRCm39)	L877H	probably damaging	Het
Rtel1	A	G	2: 180,964,307 (GRCm39)		probably null	Het
Septin12	T	C	16: 4,811,620 (GRCm39)	D116G	probably damaging	Het
Son	T	A	16: 91,453,263 (GRCm39)	V670E	probably damaging	Het
Spag9	T	A	11: 93,988,612 (GRCm39)	I544N	probably benign	Het
Spsb3	T	G	17: 25,106,036 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,652 (GRCm39)	F164L	possibly damaging	Het
Tgfbr3	T	C	5: 107,362,836 (GRCm39)	T59A	probably damaging	Het
Tsc1	T	A	2: 28,566,531 (GRCm39)	I649K	probably damaging	Het
Txndc9	T	C	1: 38,034,793 (GRCm39)	D37G	probably benign	Het
Uba7	C	T	9: 107,856,113 (GRCm39)	A496V	probably benign	Het
Usf3	T	A	16: 44,035,889 (GRCm39)	I123N	probably damaging	Het
Vmn1r184	T	A	7: 25,966,955 (GRCm39)	S234T	possibly damaging	Het
Vsig10l	C	A	7: 43,114,741 (GRCm39)	S314*	probably null	Het
Wdfy4	A	G	14: 32,801,892 (GRCm39)	F1922S	probably damaging	Het
Zfp219	C	T	14: 52,247,112 (GRCm39)	R5H	probably damaging	Het
Zfp946	G	T	17: 22,674,584 (GRCm39)	C446F	probably benign	Het

Other mutations in Psma4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7422:Psma4	UTSW	9	54,862,166 (GRCm39)	missense	probably benign	0.11
R9544:Psma4	UTSW	9	54,862,245 (GRCm39)	missense	probably damaging	1.00
R9588:Psma4	UTSW	9	54,862,245 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCCTACCTGTGTCATTGC -3'
(R):5'- ATGGGCTGCAAGGAGATGTC -3'

Sequencing Primer
(F):5'- CATTGCTGATTTCTCTCAGATGAG -3'
(R):5'- TGTCAAGCAAAATAAAGCAAATACAC -3'

Posted On

2016-06-06