Incidental Mutation 'R0306:Psmg1'
ID 35819
Institutional Source Beutler Lab
Gene Symbol Psmg1
Ensembl Gene ENSMUSG00000022913
Gene Name proteasome (prosome, macropain) assembly chaperone 1
Synonyms Dscr2
MMRRC Submission 038517-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0306 (G1)
Quality Score 208
Status Validated
Chromosome 16
Chromosomal Location 95781133-95792160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95788540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 138 (C138R)
Ref Sequence ENSEMBL: ENSMUSP00000023630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023630] [ENSMUST00000023631] [ENSMUST00000099502]
AlphaFold Q9JK23
Predicted Effect probably damaging
Transcript: ENSMUST00000023630
AA Change: C138R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000023631
SMART Domains Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000150692
Meta Mutation Damage Score 0.9413 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 94% (61/65)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l1 T C 6: 48,953,020 (GRCm39) V315A probably damaging Het
BC028528 C T 3: 95,797,132 (GRCm39) probably benign Het
Bspry T C 4: 62,414,394 (GRCm39) F329S probably damaging Het
Cd209a A G 8: 3,795,535 (GRCm39) Y120H probably benign Het
Ces1f T C 8: 94,003,172 (GRCm39) probably benign Het
Cfap52 T C 11: 67,844,896 (GRCm39) N58D probably benign Het
Cfap74 G A 4: 155,549,896 (GRCm39) probably benign Het
Chst8 T C 7: 34,374,723 (GRCm39) E372G probably benign Het
Cplane1 T C 15: 8,209,373 (GRCm39) V270A probably damaging Het
Ddx49 A G 8: 70,747,322 (GRCm39) probably benign Het
Ddx52 G T 11: 83,835,474 (GRCm39) L133F probably benign Het
Defb26 T A 2: 152,349,888 (GRCm39) I131F unknown Het
Dip2c T A 13: 9,654,635 (GRCm39) S719T probably benign Het
Dnmt3a A G 12: 3,916,096 (GRCm39) S94G possibly damaging Het
Dytn G A 1: 63,724,272 (GRCm39) P3S possibly damaging Het
Fmn2 T C 1: 174,437,050 (GRCm39) probably benign Het
Gal3st1 T A 11: 3,948,546 (GRCm39) L251Q probably damaging Het
Gm19684 A T 17: 36,438,300 (GRCm39) probably benign Het
Il15 T A 8: 83,061,083 (GRCm39) probably benign Het
Jag1 C T 2: 136,927,855 (GRCm39) G852D probably damaging Het
Kbtbd4 A G 2: 90,744,530 (GRCm39) probably benign Het
Kdm3b C A 18: 34,937,070 (GRCm39) Q451K probably benign Het
Lrfn2 A T 17: 49,403,283 (GRCm39) I469F probably damaging Het
Mep1a A T 17: 43,813,534 (GRCm39) probably benign Het
Morn5 T C 2: 35,944,986 (GRCm39) F70S probably damaging Het
Nav2 C A 7: 49,195,651 (GRCm39) P1009Q probably benign Het
Noc3l T C 19: 38,796,094 (GRCm39) Y334C probably damaging Het
Nsun4 A T 4: 115,910,019 (GRCm39) Y180* probably null Het
Nup210l T C 3: 90,114,675 (GRCm39) I1750T probably benign Het
Or51s1 A T 7: 102,559,010 (GRCm39) I12N probably benign Het
Or5p53 A T 7: 107,532,907 (GRCm39) Y60F probably damaging Het
Or8u9 T A 2: 86,002,060 (GRCm39) I34F possibly damaging Het
Parp14 A G 16: 35,676,944 (GRCm39) L1008P probably benign Het
Paxbp1 A G 16: 90,819,003 (GRCm39) V759A possibly damaging Het
Prdm10 C A 9: 31,227,520 (GRCm39) Q42K probably damaging Het
Prkcsh T C 9: 21,917,822 (GRCm39) probably benign Het
Ptprb T C 10: 116,179,893 (GRCm39) M1437T probably benign Het
Ryr3 A G 2: 112,606,000 (GRCm39) probably null Het
Serpinf1 T C 11: 75,304,761 (GRCm39) Y200C probably damaging Het
Shox2 T C 3: 66,881,167 (GRCm39) H130R probably damaging Het
Slc22a1 A G 17: 12,881,485 (GRCm39) F335L probably benign Het
Slc44a5 A G 3: 153,975,638 (GRCm39) N683S probably damaging Het
Slc9a9 A T 9: 95,019,987 (GRCm39) T519S probably benign Het
Smarca2 T A 19: 26,618,013 (GRCm39) L348Q probably damaging Het
Sorbs1 T C 19: 40,332,855 (GRCm39) D521G possibly damaging Het
Sorbs2 A T 8: 46,248,767 (GRCm39) T593S probably benign Het
Srp19 T C 18: 34,467,629 (GRCm39) probably benign Het
Stk35 T A 2: 129,643,683 (GRCm39) Y222* probably null Het
Syt10 T G 15: 89,711,191 (GRCm39) K114T probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Trpc4ap A G 2: 155,478,180 (GRCm39) V662A probably benign Het
Ttll4 G A 1: 74,735,916 (GRCm39) R1066Q probably benign Het
Tulp2 C T 7: 45,168,000 (GRCm39) probably benign Het
Unc5b C A 10: 60,615,437 (GRCm39) probably benign Het
Vmn1r230 T A 17: 21,066,895 (GRCm39) I28K possibly damaging Het
Vmn2r118 A C 17: 55,915,616 (GRCm39) F445V possibly damaging Het
Zfp142 C T 1: 74,609,341 (GRCm39) E1485K probably damaging Het
Zfp819 C A 7: 43,266,621 (GRCm39) A292E possibly damaging Het
Other mutations in Psmg1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGGCTTGTAACCACACCTAATGCTAAG -3'
(R):5'- TTTGAGTGAACACATGGGCCTCTG -3'

Sequencing Primer
(F):5'- acaaacaaacaaacaaacaaacaaac -3'
(R):5'- TGGTACTTAGGAGGTGCTCA -3'
Posted On 2013-05-09