Incidental Mutation 'IGL01993:Psme3ip1'
ID 182078
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psme3ip1
Ensembl Gene ENSMUSG00000031774
Gene Name proteasome activator subunit 3 interacting protein 1
Synonyms Fam192a, 1700001O11Rik, 2310065K24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # IGL01993
Quality Score
Status
Chromosome 8
Chromosomal Location 95301568-95328483 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 95302380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 217 (A217D)
Ref Sequence ENSEMBL: ENSMUSP00000034226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034226] [ENSMUST00000211833] [ENSMUST00000212507] [ENSMUST00000212791]
AlphaFold Q91WE2
Predicted Effect possibly damaging
Transcript: ENSMUST00000034226
AA Change: A217D

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034226
Gene: ENSMUSG00000031774
AA Change: A217D

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 benign
Transcript: ENSMUST00000211833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212485
Predicted Effect probably benign
Transcript: ENSMUST00000212507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212696
Predicted Effect probably benign
Transcript: ENSMUST00000212791
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,208,452 (GRCm39) probably benign Het
Acnat2 A T 4: 49,380,131 (GRCm39) S398T probably benign Het
Adgrb2 G T 4: 129,912,635 (GRCm39) E1296D possibly damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Anapc2 C A 2: 25,164,725 (GRCm39) D322E probably benign Het
Apobec1 A G 6: 122,565,138 (GRCm39) probably benign Het
Asic1 T C 15: 99,595,353 (GRCm39) V393A probably benign Het
Cfap65 A C 1: 74,959,702 (GRCm39) F816C probably damaging Het
Cfap69 A C 5: 5,631,284 (GRCm39) L914R probably damaging Het
Cgas A G 9: 78,349,802 (GRCm39) S187P probably benign Het
Cspg4 C T 9: 56,805,762 (GRCm39) T2191I probably benign Het
Cyp11a1 T A 9: 57,928,106 (GRCm39) I210N probably damaging Het
Dgkb T A 12: 38,032,009 (GRCm39) Y24N probably benign Het
Epc1 T C 18: 6,449,136 (GRCm39) T504A possibly damaging Het
Fam135a A T 1: 24,094,992 (GRCm39) D125E probably damaging Het
Fgd3 T C 13: 49,433,664 (GRCm39) H345R possibly damaging Het
Gm12253 T C 11: 58,325,379 (GRCm39) V17A probably damaging Het
Hars1 C T 18: 36,903,265 (GRCm39) G355D probably damaging Het
Hpgd A T 8: 56,772,097 (GRCm39) I190F probably benign Het
Ighv1-34 A T 12: 114,815,003 (GRCm39) M53K probably benign Het
Ildr2 A T 1: 166,096,939 (GRCm39) T53S possibly damaging Het
Ints5 T A 19: 8,872,829 (GRCm39) C263S probably benign Het
Lars2 T C 9: 123,224,008 (GRCm39) probably benign Het
Ldha G A 7: 46,504,524 (GRCm39) A349T possibly damaging Het
Map3k2 T A 18: 32,359,684 (GRCm39) C512* probably null Het
Parp4 G A 14: 56,848,245 (GRCm39) R687Q possibly damaging Het
Plk2 T C 13: 110,535,731 (GRCm39) S518P probably damaging Het
Prrc2b T G 2: 32,114,057 (GRCm39) V2036G possibly damaging Het
Psg16 T A 7: 16,827,631 (GRCm39) S196T probably benign Het
Ranbp17 T C 11: 33,450,770 (GRCm39) T56A possibly damaging Het
Retsat T C 6: 72,581,978 (GRCm39) probably benign Het
Robo3 G T 9: 37,335,949 (GRCm39) L484I probably damaging Het
Septin4 G T 11: 87,458,555 (GRCm39) G310W possibly damaging Het
Slc17a6 T C 7: 51,317,705 (GRCm39) M446T possibly damaging Het
Slc38a1 G A 15: 96,521,927 (GRCm39) T11M probably damaging Het
Tmem138 T C 19: 10,548,952 (GRCm39) N106S probably benign Het
Traf1 G A 2: 34,836,879 (GRCm39) probably benign Het
Tspan8 T C 10: 115,675,913 (GRCm39) probably benign Het
Ubr5 T C 15: 37,973,256 (GRCm39) E2615G probably damaging Het
Vwde A G 6: 13,219,977 (GRCm39) I58T possibly damaging Het
Zc3h12c A G 9: 52,027,611 (GRCm39) S603P probably damaging Het
Zfp746 A T 6: 48,059,092 (GRCm39) S172R probably damaging Het
Other mutations in Psme3ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Psme3ip1 APN 8 95,313,990 (GRCm39) missense probably damaging 1.00
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
R0352: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
Posted On 2014-05-07