Incidental Mutation 'R0352:Psme3ip1'
ID 29710
Institutional Source Beutler Lab
Gene Symbol Psme3ip1
Ensembl Gene ENSMUSG00000031774
Gene Name proteasome activator subunit 3 interacting protein 1
Synonyms Fam192a, 1700001O11Rik, 2310065K24Rik
MMRRC Submission 038558-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R0352 (G1)
Quality Score 206
Status Validated
Chromosome 8
Chromosomal Location 95301568-95328483 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95314639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 73 (F73S)
Ref Sequence ENSEMBL: ENSMUSP00000148342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034226] [ENSMUST00000212083] [ENSMUST00000212159] [ENSMUST00000212258] [ENSMUST00000212507] [ENSMUST00000212791] [ENSMUST00000213008] [ENSMUST00000212788] [ENSMUST00000212765] [ENSMUST00000213022] [ENSMUST00000212547]
AlphaFold Q91WE2
Predicted Effect probably damaging
Transcript: ENSMUST00000034226
AA Change: F73S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034226
Gene: ENSMUSG00000031774
AA Change: F73S

DomainStartEndE-ValueType
Pfam:Nefa_Nip30_N 15 116 6.4e-36 PFAM
low complexity region 172 178 N/A INTRINSIC
low complexity region 188 199 N/A INTRINSIC
low complexity region 219 232 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000212083
AA Change: F73S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000212159
AA Change: F73S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212258
AA Change: F73S

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212429
Predicted Effect possibly damaging
Transcript: ENSMUST00000212507
AA Change: F73S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000212791
AA Change: F73S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000213008
AA Change: F73S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000212788
AA Change: F73S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000212765
AA Change: F73S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000213022
AA Change: F73S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212696
Predicted Effect probably benign
Transcript: ENSMUST00000212547
Meta Mutation Damage Score 0.5347 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.4%
  • 20x: 90.0%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,184,804 (GRCm39) T64M possibly damaging Het
3110040N11Rik G T 7: 81,438,208 (GRCm39) N49K probably benign Het
Adrb1 T A 19: 56,711,293 (GRCm39) F164I probably damaging Het
Aplf C T 6: 87,630,866 (GRCm39) V190I probably benign Het
Aqr A G 2: 114,000,533 (GRCm39) Y50H probably damaging Het
Arfgef3 A C 10: 18,537,135 (GRCm39) I182R probably benign Het
Cacna1b G A 2: 24,515,244 (GRCm39) probably benign Het
Casp9 A G 4: 141,532,841 (GRCm39) T246A probably damaging Het
Clcn6 A G 4: 148,099,063 (GRCm39) S427P probably damaging Het
Cnga1 T C 5: 72,761,846 (GRCm39) N556S possibly damaging Het
Cntnap2 G A 6: 45,969,018 (GRCm39) probably null Het
Col11a2 T G 17: 34,261,501 (GRCm39) V120G probably benign Het
Cux2 A C 5: 122,022,802 (GRCm39) probably benign Het
Dmrt2 T C 19: 25,656,026 (GRCm39) S542P probably damaging Het
Dnah7b A G 1: 46,316,286 (GRCm39) H3133R probably damaging Het
Drosha G A 15: 12,837,374 (GRCm39) R286Q unknown Het
Eipr1 A G 12: 28,816,784 (GRCm39) D47G probably damaging Het
Fras1 T G 5: 96,874,399 (GRCm39) Y2275D probably damaging Het
Grm4 C T 17: 27,670,865 (GRCm39) probably benign Het
Hebp1 A G 6: 135,129,918 (GRCm39) V100A possibly damaging Het
Hivep2 G A 10: 14,019,039 (GRCm39) V1937I possibly damaging Het
Hs3st6 T C 17: 24,977,168 (GRCm39) V216A probably damaging Het
Hsd17b4 T C 18: 50,324,851 (GRCm39) I688T probably benign Het
Hydin T C 8: 111,296,533 (GRCm39) probably null Het
Iws1 A G 18: 32,217,258 (GRCm39) E426G probably damaging Het
Klrb1f T C 6: 129,030,680 (GRCm39) S64P probably damaging Het
Lacc1 C T 14: 77,272,629 (GRCm39) G56R probably damaging Het
Lcmt2 A G 2: 120,969,377 (GRCm39) S569P probably benign Het
Lipm C T 19: 34,090,275 (GRCm39) probably benign Het
Lum A G 10: 97,404,471 (GRCm39) H122R probably damaging Het
Magi2 A G 5: 20,270,664 (GRCm39) Y15C probably damaging Het
Mal A T 2: 127,482,286 (GRCm39) I39N probably damaging Het
Mgme1 A G 2: 144,118,319 (GRCm39) H197R probably benign Het
Mmrn1 A T 6: 60,921,955 (GRCm39) K137N probably benign Het
Myh3 T A 11: 66,981,254 (GRCm39) C706S possibly damaging Het
Myo18b A T 5: 113,022,389 (GRCm39) probably benign Het
Myom1 A G 17: 71,352,744 (GRCm39) E356G possibly damaging Het
Nfib A G 4: 82,422,954 (GRCm39) probably benign Het
Npc1l1 T C 11: 6,173,076 (GRCm39) M788V probably benign Het
Or9a2 C T 6: 41,749,058 (GRCm39) M58I probably damaging Het
Pdha2 A G 3: 140,917,457 (GRCm39) V17A probably benign Het
Pgap1 A T 1: 54,525,617 (GRCm39) probably benign Het
Polr1a G T 6: 71,897,747 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Pramel20 A T 4: 143,297,878 (GRCm39) probably benign Het
Pramel21 A T 4: 143,342,559 (GRCm39) D222V possibly damaging Het
Prmt2 A T 10: 76,044,337 (GRCm39) V405D possibly damaging Het
Psg26 T A 7: 18,209,181 (GRCm39) Y409F probably benign Het
Ptges G T 2: 30,793,144 (GRCm39) Y29* probably null Het
Ptrhd1 A G 12: 4,286,399 (GRCm39) T97A probably benign Het
Ripk3 T A 14: 56,024,200 (GRCm39) probably benign Het
Rnf114 A T 2: 167,353,136 (GRCm39) I136F probably benign Het
Serinc5 A G 13: 92,844,497 (GRCm39) probably null Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc23a2 C A 2: 131,902,716 (GRCm39) M495I probably benign Het
Slc52a3 T A 2: 151,849,433 (GRCm39) L360* probably null Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Syt5 A G 7: 4,544,170 (GRCm39) V290A probably benign Het
Szt2 G A 4: 118,239,790 (GRCm39) A1931V unknown Het
Tasp1 A G 2: 139,793,378 (GRCm39) probably null Het
Tcp10a C A 17: 7,593,805 (GRCm39) D43E probably damaging Het
Tnfsf11 A T 14: 78,516,408 (GRCm39) Y187N probably benign Het
Tppp2 T A 14: 52,156,807 (GRCm39) N61K possibly damaging Het
Wwtr1 A T 3: 57,482,548 (GRCm39) W100R probably damaging Het
Zfp623 A G 15: 75,820,433 (GRCm39) D463G probably benign Het
Zfp990 A G 4: 145,263,174 (GRCm39) I57M probably damaging Het
Zmat5 G A 11: 4,672,413 (GRCm39) C10Y probably damaging Het
Other mutations in Psme3ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Psme3ip1 APN 8 95,313,990 (GRCm39) missense probably damaging 1.00
IGL01993:Psme3ip1 APN 8 95,302,380 (GRCm39) missense possibly damaging 0.78
IGL02483:Psme3ip1 APN 8 95,315,394 (GRCm39) splice site probably benign
R0206:Psme3ip1 UTSW 8 95,314,639 (GRCm39) missense probably damaging 1.00
R0885:Psme3ip1 UTSW 8 95,302,407 (GRCm39) missense probably damaging 1.00
R1777:Psme3ip1 UTSW 8 95,315,439 (GRCm39) missense probably damaging 1.00
R6193:Psme3ip1 UTSW 8 95,302,348 (GRCm39) missense probably damaging 1.00
R7173:Psme3ip1 UTSW 8 95,315,486 (GRCm39) missense probably damaging 1.00
R7331:Psme3ip1 UTSW 8 95,309,564 (GRCm39) nonsense probably null
R7358:Psme3ip1 UTSW 8 95,302,327 (GRCm39) missense possibly damaging 0.88
R7375:Psme3ip1 UTSW 8 95,309,636 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCATGGCATCAAGTCAAAGCATTTCTC -3'
(R):5'- TGTCTTTGAAAACCGCCTGCCC -3'

Sequencing Primer
(F):5'- TCTTAAGCTCTAAGTCAGAAGGAAG -3'
(R):5'- CCCTTCTGTATGAGGTGCAAAG -3'
Posted On 2013-04-24