Mutagenetix > Incidental Mutation

Incidental Mutation 'R5048:Psmg1'

394486

Institutional Source

Beutler Lab

Gene Symbol

Psmg1

Ensembl Gene

ENSMUSG00000022913

Gene Name

proteasome (prosome, macropain) assembly chaperone 1

Synonyms

Dscr2

MMRRC Submission

042638-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5048 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95781133-95792160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95785171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 139 (R139S)

Ref Sequence

ENSEMBL: ENSMUSP00000113102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023630] [ENSMUST00000117044]

AlphaFold

Q9JK23

Predicted Effect

probably benign
Transcript: ENSMUST00000023630
AA Change: R160S

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000117044
AA Change: R139S

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150692

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.1%

Validation Efficiency

98% (64/65)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die by E6.5. Mice homozygous for a conditional allele activated in the brain exhibit abnormal brain development, neurological defects, and die by P21. Mice homozygous for a conditional allele activated in the liver exhibit premature hepatocyte senescence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,138,850 (GRCm39)	I144V	probably benign	Het
Abhd5	T	C	9: 122,206,968 (GRCm39)	Y85H	probably damaging	Het
Acadsb	G	A	7: 131,039,198 (GRCm39)	G323D	probably damaging	Het
Amotl2	A	G	9: 102,600,997 (GRCm39)	R322G	probably benign	Het
Aox1	A	T	1: 58,098,641 (GRCm39)		probably benign	Het
Aste1	C	T	9: 105,274,188 (GRCm39)	R82W	probably damaging	Het
Atg4b	T	C	1: 93,703,380 (GRCm39)	I139T	possibly damaging	Het
Btnl5-ps	T	A	17: 34,707,697 (GRCm39)		noncoding transcript	Het
Ccdc85c	A	G	12: 108,187,966 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,475,340 (GRCm39)		probably benign	Het
Defb10	G	A	8: 22,351,887 (GRCm39)	C44Y	probably damaging	Het
Dhrs9	T	C	2: 69,224,744 (GRCm39)	V144A	probably damaging	Het
Dnhd1	G	C	7: 105,342,904 (GRCm39)	S1416T	probably benign	Het
Dok1	T	A	6: 83,009,087 (GRCm39)		probably benign	Het
Emilin2	G	A	17: 71,580,962 (GRCm39)	T588M	probably damaging	Het
Fam181b	A	G	7: 92,729,147 (GRCm39)		probably benign	Het
Fhad1	T	C	4: 141,691,987 (GRCm39)		probably null	Het
Foxi2	A	G	7: 135,013,364 (GRCm39)	E198G	probably damaging	Het
Fsip2	C	A	2: 82,823,494 (GRCm39)	A6409E	probably damaging	Het
Gje1	T	C	10: 14,593,021 (GRCm39)	Y65C	probably damaging	Het
Gm6401	T	C	14: 41,789,724 (GRCm39)		probably null	Het
Gprc5c	T	C	11: 114,761,177 (GRCm39)	*442Q	probably null	Het
Iars1	T	A	13: 49,841,713 (GRCm39)	I67N	probably damaging	Het
Igkv4-79	T	C	6: 69,019,971 (GRCm39)	S115G	probably benign	Het
Itga4	C	A	2: 79,103,378 (GRCm39)	S156R	probably benign	Het
Lilra6	C	T	7: 3,918,440 (GRCm39)		probably null	Het
Majin	C	A	19: 6,272,684 (GRCm39)	A208E	probably benign	Het
Megf8	A	G	7: 25,030,517 (GRCm39)	Q490R	possibly damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mgarp	G	A	3: 51,298,707 (GRCm39)	R88C	probably damaging	Het
Msh2	T	C	17: 87,980,196 (GRCm39)	F58S	probably damaging	Het
Nemp1	T	C	10: 127,526,804 (GRCm39)		probably null	Het
Nlrp10	A	T	7: 108,523,772 (GRCm39)	N569K	probably benign	Het
Nxpe2	T	C	9: 48,237,388 (GRCm39)		probably null	Het
Or4c106	T	C	2: 88,682,807 (GRCm39)	V171A	possibly damaging	Het
Or5w16	C	A	2: 87,576,663 (GRCm39)	A41E	probably benign	Het
Pdcd11	C	A	19: 47,095,554 (GRCm39)	S625R	probably benign	Het
Pigb	T	A	9: 72,936,990 (GRCm39)		probably null	Het
Pitpnb	T	C	5: 111,530,869 (GRCm39)	F221L	possibly damaging	Het
Prox2	A	T	12: 85,141,115 (GRCm39)	W363R	probably damaging	Het
Rab11fip3	A	G	17: 26,286,554 (GRCm39)		probably null	Het
Samd9l	G	A	6: 3,374,157 (GRCm39)	R1035C	probably benign	Het
Shkbp1	G	A	7: 27,051,521 (GRCm39)		probably benign	Het
Slc30a5	C	A	13: 100,943,249 (GRCm39)	L536F	probably damaging	Het
Slc6a17	A	T	3: 107,378,753 (GRCm39)	L643*	probably null	Het
Slit3	T	C	11: 35,479,812 (GRCm39)	Y330H	probably damaging	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Stoml3	A	C	3: 53,408,213 (GRCm39)	K86N	possibly damaging	Het
Tmtc1	A	T	6: 148,139,344 (GRCm39)	L926Q	possibly damaging	Het
Tns4	T	G	11: 98,969,605 (GRCm39)	R285S	possibly damaging	Het
Uncx	C	T	5: 139,532,874 (GRCm39)	T313M	probably benign	Het
Vmn2r75	G	A	7: 85,814,735 (GRCm39)	R253C	possibly damaging	Het
Zbed6	T	C	1: 133,586,462 (GRCm39)	S292G	probably damaging	Het
Zfp143	A	G	7: 109,673,325 (GRCm39)	T142A	probably damaging	Het
Zfp287	T	C	11: 62,605,777 (GRCm39)	K366E	probably damaging	Het

Other mutations in Psmg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Psmg1	APN	16	95,781,268 (GRCm39)	missense	possibly damaging	0.83
IGL01585:Psmg1	APN	16	95,789,221 (GRCm39)	missense	possibly damaging	0.94
IGL02597:Psmg1	APN	16	95,788,497 (GRCm39)	missense	probably damaging	1.00
R0306:Psmg1	UTSW	16	95,788,540 (GRCm39)	missense	probably damaging	1.00
R0362:Psmg1	UTSW	16	95,789,171 (GRCm39)	missense	possibly damaging	0.91
R0506:Psmg1	UTSW	16	95,790,687 (GRCm39)	unclassified	probably benign
R2566:Psmg1	UTSW	16	95,783,395 (GRCm39)	nonsense	probably null
R3014:Psmg1	UTSW	16	95,781,248 (GRCm39)	missense	probably damaging	1.00
R4944:Psmg1	UTSW	16	95,790,812 (GRCm39)	unclassified	probably benign
R5771:Psmg1	UTSW	16	95,783,369 (GRCm39)	missense	probably damaging	1.00
R6086:Psmg1	UTSW	16	95,781,244 (GRCm39)	missense	probably damaging	1.00
R6499:Psmg1	UTSW	16	95,789,297 (GRCm39)	missense	probably damaging	1.00
R9282:Psmg1	UTSW	16	95,790,717 (GRCm39)	missense	probably damaging	0.99
X0066:Psmg1	UTSW	16	95,788,520 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- CAGGTCATGCACAATGTTCGG -3'
(R):5'- GATGGCTTAGCTAGACCTCAGAG -3'

Sequencing Primer
(F):5'- GCACAATGTTCGGCTGTTCCAG -3'
(R):5'- TTAGCTAGACCTCAGAGCATGGTC -3'

Posted On

2016-06-15