Mutagenetix > Incidental Mutation

Incidental Mutation 'R6499:Psmg1'

519650

Institutional Source

Beutler Lab

Gene Symbol

Psmg1

Ensembl Gene

ENSMUSG00000022913

Gene Name

proteasome (prosome, macropain) assembly chaperone 1

Synonyms

Dscr2

MMRRC Submission

044631-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6499 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95781133-95792160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95789297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 87 (F87L)

Ref Sequence

ENSEMBL: ENSMUSP00000113102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023630] [ENSMUST00000023631] [ENSMUST00000099502] [ENSMUST00000117044] [ENSMUST00000149066]

AlphaFold

Q9JK23

Predicted Effect

probably damaging
Transcript: ENSMUST00000023630
AA Change: F87L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023631

SMART Domains

Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
WD40	175	214	1.3e-7	SMART
WD40	217	256	2.26e-7	SMART
WD40	259	302	1.83e-7	SMART
WD40	311	352	3.82e1	SMART
WD40	357	396	4.27e-8	SMART
WD40	417	454	8.59e-1	SMART
WD40	457	497	1.47e-6	SMART
WD40	504	544	9.21e0	SMART
low complexity region	660	676	N/A	INTRINSIC
low complexity region	753	767	N/A	INTRINSIC
low complexity region	852	868	N/A	INTRINSIC
low complexity region	906	927	N/A	INTRINSIC
BROMO	1156	1267	1.72e-6	SMART
low complexity region	1277	1292	N/A	INTRINSIC
BROMO	1317	1422	2.65e-30	SMART
low complexity region	1497	1513	N/A	INTRINSIC
low complexity region	1543	1558	N/A	INTRINSIC
internal_repeat_1	1574	1762	1.42e-9	PROSPERO
low complexity region	1764	1775	N/A	INTRINSIC
internal_repeat_1	1857	2050	1.42e-9	PROSPERO
low complexity region	2165	2174	N/A	INTRINSIC
low complexity region	2260	2270	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099502

SMART Domains

Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
WD40	175	214	1.3e-7	SMART
WD40	217	256	2.26e-7	SMART
WD40	259	302	1.83e-7	SMART
WD40	311	352	3.82e1	SMART
WD40	357	396	4.27e-8	SMART
WD40	417	454	8.59e-1	SMART
WD40	457	497	1.47e-6	SMART
WD40	504	544	9.21e0	SMART
low complexity region	660	676	N/A	INTRINSIC
low complexity region	753	767	N/A	INTRINSIC
low complexity region	852	868	N/A	INTRINSIC
low complexity region	906	927	N/A	INTRINSIC
BROMO	1156	1267	1.72e-6	SMART
low complexity region	1277	1292	N/A	INTRINSIC
BROMO	1317	1422	2.65e-30	SMART
low complexity region	1497	1513	N/A	INTRINSIC
low complexity region	1543	1558	N/A	INTRINSIC
internal_repeat_1	1574	1762	1.42e-9	PROSPERO
low complexity region	1764	1775	N/A	INTRINSIC
internal_repeat_1	1857	2050	1.42e-9	PROSPERO
low complexity region	2165	2174	N/A	INTRINSIC
low complexity region	2260	2270	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117044
AA Change: F87L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149066
AA Change: V51A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

98% (43/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,561 (GRCm39)	T1250M	probably damaging	Het
Actn1	C	T	12: 80,215,191 (GRCm39)	A857T	possibly damaging	Het
Adam2	C	T	14: 66,296,239 (GRCm39)	V207I	probably damaging	Het
Angpt2	T	C	8: 18,744,533 (GRCm39)	T404A	probably benign	Het
Ank3	T	C	10: 69,827,574 (GRCm39)		probably benign	Het
Atosa	C	A	9: 74,930,930 (GRCm39)	Q958K	probably damaging	Het
B4galt4	T	A	16: 38,578,184 (GRCm39)	D210E	probably benign	Het
Brinp3	A	T	1: 146,777,431 (GRCm39)	H626L	possibly damaging	Het
Ccna2	T	G	3: 36,625,112 (GRCm39)	D68A	probably damaging	Het
Cd163	G	A	6: 124,281,703 (GRCm39)	G2D	probably benign	Het
Chrm5	A	T	2: 112,310,825 (GRCm39)	V97D	probably benign	Het
Dctn5	G	A	7: 121,734,320 (GRCm39)	V55I	probably benign	Het
Dnm3	A	T	1: 162,141,164 (GRCm39)	I365N	probably damaging	Het
Esyt2	A	G	12: 116,284,790 (GRCm39)	D184G	probably damaging	Het
Ifi214	C	A	1: 173,352,597 (GRCm39)	K277N	probably damaging	Het
Il11ra1	C	T	4: 41,765,412 (GRCm39)	P169L	probably benign	Het
Inhbb	C	T	1: 119,345,069 (GRCm39)	E407K	probably damaging	Het
Lama2	T	A	10: 26,907,154 (GRCm39)	T2336S	probably damaging	Het
Ldhb	A	T	6: 142,439,847 (GRCm39)	V231E	possibly damaging	Het
Lrit2	T	C	14: 36,790,767 (GRCm39)	F149L	probably damaging	Het
Malrd1	T	A	2: 15,936,500 (GRCm39)	S1575T	probably benign	Het
Naip5	A	G	13: 100,358,102 (GRCm39)	C1045R	probably benign	Het
Nefl	A	G	14: 68,322,034 (GRCm39)	E208G	probably damaging	Het
Oog4	A	C	4: 143,164,548 (GRCm39)	S328A	probably damaging	Het
Or1e1	T	A	11: 73,245,011 (GRCm39)	L144Q	probably damaging	Het
Or5p79	G	T	7: 108,221,713 (GRCm39)	M231I	probably benign	Het
Or6c216	T	C	10: 129,678,453 (GRCm39)	I153V	probably benign	Het
Or7e168	A	G	9: 19,719,847 (GRCm39)	I78V	probably benign	Het
Pbrm1	A	G	14: 30,783,466 (GRCm39)	N528D	probably damaging	Het
Pls1	A	G	9: 95,636,798 (GRCm39)	I558T	probably damaging	Het
Polq	T	C	16: 36,881,189 (GRCm39)	S839P	probably benign	Het
Ptprt	A	G	2: 161,376,507 (GRCm39)	M1298T	probably benign	Het
Rbm27	T	A	18: 42,470,076 (GRCm39)	W958R	probably damaging	Het
Skint5	T	G	4: 113,396,552 (GRCm39)	D1207A	unknown	Het
Stx17	T	A	4: 48,183,478 (GRCm39)		probably null	Het
Tas2r114	A	T	6: 131,666,099 (GRCm39)	*310R	probably null	Het
Tmem130	T	A	5: 144,689,224 (GRCm39)	N139I	probably damaging	Het
Trpc1	T	C	9: 95,608,490 (GRCm39)	E267G	probably damaging	Het
Trrap	T	A	5: 144,793,812 (GRCm39)	M3398K	probably damaging	Het
Vrtn	T	G	12: 84,697,090 (GRCm39)	D613E	probably benign	Het
Vsx1	G	T	2: 150,530,441 (GRCm39)	T147K	probably benign	Het
Wdr55	T	C	18: 36,895,231 (GRCm39)	V103A	probably benign	Het
Zfp712	A	T	13: 67,200,400 (GRCm39)	D28E	probably benign	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
R5048:Psmg1	UTSW	16	95,785,171 (GRCm39)	missense	probably benign	0.34
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
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'- TGAGAATCTGCTTACTATCGAGG -3'
(R):5'- TAGAGTTGCGAGTCACCAGG -3'

Sequencing Primer
(F):5'- GCTCGTGCCTACATGACCATG -3'
(R):5'- CGAGTCACCAGGGGGAG -3'

Posted On

2018-06-06