Incidental Mutation 'IGL02938:Adrm1'
ID 364430
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adrm1
Ensembl Gene ENSMUSG00000039041
Gene Name adhesion regulating molecule 1 26S proteasome ubiquitin receptor
Synonyms Rpn13, 1110063P18Rik, 2510006J17Rik, ARM-1, Gp110
Accession Numbers
Essential gene? Possibly essential (E-score: 0.655) question?
Stock # IGL02938
Quality Score
Status
Chromosome 2
Chromosomal Location 179813381-179818076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 179817395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 287 (D287E)
Ref Sequence ENSEMBL: ENSMUSP00000050076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015791] [ENSMUST00000061437]
AlphaFold Q9JKV1
PDB Structure Crystal structure of the proteasomal Rpn13 PRU-domain [X-RAY DIFFRACTION]
Complex Structures of Mouse Rpn13 (22-130aa) and ubiquitin [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000015791
SMART Domains Protein: ENSMUSP00000015791
Gene: ENSMUSG00000015647

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
LamNT 44 303 1.06e-132 SMART
EGF_Lam 305 361 4.35e-6 SMART
EGF_Lam 364 431 5.78e-11 SMART
EGF_Lam 434 476 1.32e-5 SMART
EGF_Lam 500 544 8.63e-10 SMART
EGF_Lam 547 590 1.16e-10 SMART
EGF_Lam 593 635 4.63e-10 SMART
EGF_Lam 638 680 6.25e-7 SMART
EGF_Lam 683 726 3.1e-11 SMART
EGF_Lam 730 779 2.99e-4 SMART
EGF_Lam 782 831 4.66e-6 SMART
EGF_Lam 834 878 3.48e-5 SMART
low complexity region 1261 1273 N/A INTRINSIC
EGF_Lam 1443 1486 7.01e-10 SMART
EGF_like 1489 1530 3.64e-1 SMART
EGF_Lam 1533 1579 8.56e-14 SMART
EGF_Lam 1582 1630 1.86e-14 SMART
LamB 1689 1819 5.86e-61 SMART
EGF_like 1818 1862 2.74e0 SMART
EGF_Lam 1865 1912 3.32e-11 SMART
EGF_Lam 1915 1968 1.61e-9 SMART
EGF_Lam 1971 2022 6.39e-13 SMART
EGF_Lam 2025 2069 1.94e-12 SMART
EGF_Lam 2072 2116 1.35e-11 SMART
EGF_like 2103 2145 3.1e1 SMART
EGF_Lam 2119 2166 1.18e-2 SMART
Pfam:Laminin_I 2189 2453 1.7e-65 PFAM
low complexity region 2532 2548 N/A INTRINSIC
low complexity region 2557 2569 N/A INTRINSIC
low complexity region 2632 2641 N/A INTRINSIC
low complexity region 2663 2676 N/A INTRINSIC
LamG 2760 2912 3.97e-8 SMART
LamG 2966 3103 1.78e-10 SMART
LamG 3149 3274 1.11e-20 SMART
LamG 3359 3497 4.05e-23 SMART
LamG 3539 3670 3e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000061437
AA Change: D287E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050076
Gene: ENSMUSG00000039041
AA Change: D287E

DomainStartEndE-ValueType
Pfam:Proteasom_Rpn13 29 111 3.5e-35 PFAM
low complexity region 135 161 N/A INTRINSIC
low complexity region 173 254 N/A INTRINSIC
Pfam:RPN13_C 268 381 7.3e-38 PFAM
low complexity region 390 403 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147341
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adhesion regulating molecule 1 protein family. The encoded protein is a component of the proteasome where it acts as a ubiquitin receptor and recruits the deubiquitinating enzyme, ubiquitin carboxyl-terminal hydrolase L5. Increased levels of the encoded protein are associated with increased cell adhesion, which is likely an indirect effect of this intracellular protein. Dysregulation of this gene has been implicated in carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased birth weight, reduced competition for food, postnatal lethality, infertility, impaired sperm and oocyte development, increased peripheral CD4+ and CD8+ T cells, and increased serum GH and FSH levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,180,979 (GRCm39) T1152A possibly damaging Het
Adgra3 T C 5: 50,118,659 (GRCm39) D963G probably benign Het
Agxt A G 1: 93,072,831 (GRCm39) D396G probably damaging Het
Ankle1 C T 8: 71,858,896 (GRCm39) A43V probably damaging Het
Apc A G 18: 34,448,281 (GRCm39) I1692V probably damaging Het
Arhgef18 T C 8: 3,500,802 (GRCm39) V588A probably benign Het
Ccdc62 T A 5: 124,072,247 (GRCm39) V4E probably benign Het
Cdh16 A T 8: 105,343,561 (GRCm39) probably benign Het
Cr2 A T 1: 194,848,696 (GRCm39) C276S probably damaging Het
Cyp2c29 T A 19: 39,275,567 (GRCm39) D2E probably damaging Het
Ddx31 T A 2: 28,749,035 (GRCm39) V277E possibly damaging Het
Defa35 C T 8: 21,555,930 (GRCm39) probably benign Het
Dhx9 A T 1: 153,340,376 (GRCm39) D707E probably benign Het
Dnmt1 A G 9: 20,852,669 (GRCm39) S28P probably benign Het
Dock5 A T 14: 67,994,667 (GRCm39) probably benign Het
Dpp6 T C 5: 27,928,365 (GRCm39) probably benign Het
Egln1 A G 8: 125,640,754 (GRCm39) probably null Het
Esr1 T A 10: 4,733,872 (GRCm39) M224K probably damaging Het
Flt1 A G 5: 147,615,109 (GRCm39) I279T possibly damaging Het
Fzd6 T C 15: 38,897,285 (GRCm39) I478T probably benign Het
Glb1l3 A G 9: 26,738,055 (GRCm39) V368A probably benign Het
Gltpd2 T C 11: 70,410,637 (GRCm39) F5S probably damaging Het
Helz G A 11: 107,577,264 (GRCm39) E1872K unknown Het
Irak3 A G 10: 120,018,429 (GRCm39) probably null Het
Itsn2 A T 12: 4,747,216 (GRCm39) I1206F probably damaging Het
Lingo3 A T 10: 80,670,988 (GRCm39) V314E probably benign Het
Lrrc8a C T 2: 30,145,698 (GRCm39) R171W probably damaging Het
Lsg1 T C 16: 30,390,024 (GRCm39) T364A probably benign Het
Mks1 T C 11: 87,753,478 (GRCm39) probably null Het
Mov10l1 T A 15: 88,872,729 (GRCm39) F89Y probably damaging Het
Myo1b A C 1: 51,840,337 (GRCm39) probably null Het
Myo1h T C 5: 114,497,000 (GRCm39) Y819H probably damaging Het
Nedd1 G A 10: 92,525,519 (GRCm39) Q597* probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or5an9 A G 19: 12,187,046 (GRCm39) T39A probably benign Het
Pbrm1 T C 14: 30,789,761 (GRCm39) S792P probably damaging Het
Pccb T C 9: 100,866,449 (GRCm39) N457S probably benign Het
Plekho2 T C 9: 65,465,902 (GRCm39) E162G possibly damaging Het
Pou1f1 A T 16: 65,320,430 (GRCm39) T40S probably benign Het
Pwwp2b T C 7: 138,836,059 (GRCm39) V500A probably damaging Het
Pygo1 C T 9: 72,852,020 (GRCm39) A69V probably damaging Het
Slc18a3 A C 14: 32,185,772 (GRCm39) Y204D probably damaging Het
Stab2 A G 10: 86,707,785 (GRCm39) V261A possibly damaging Het
Tacc2 A T 7: 130,330,671 (GRCm39) K208N probably damaging Het
Tbc1d4 T C 14: 101,738,536 (GRCm39) D403G probably damaging Het
Tbc1d9 T A 8: 83,995,696 (GRCm39) probably benign Het
Tdrkh T C 3: 94,336,657 (GRCm39) probably benign Het
Tktl2 T A 8: 66,964,982 (GRCm39) L180H probably damaging Het
Tm4sf19 T A 16: 32,224,733 (GRCm39) L27Q probably damaging Het
Tmtc2 A G 10: 105,249,157 (GRCm39) V192A probably damaging Het
Ttn C A 2: 76,543,328 (GRCm39) M33219I probably damaging Het
Vmn1r52 A T 6: 90,156,295 (GRCm39) M200L possibly damaging Het
Vmn2r114 T A 17: 23,510,263 (GRCm39) H739L probably benign Het
Wdr20rt T C 12: 65,272,692 (GRCm39) F52L probably benign Het
Zbtb38 C T 9: 96,569,227 (GRCm39) G619D probably benign Het
Zfyve19 T C 2: 119,041,999 (GRCm39) V156A probably benign Het
Other mutations in Adrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Adrm1 APN 2 179,817,756 (GRCm39) splice site probably benign
R0718:Adrm1 UTSW 2 179,816,940 (GRCm39) splice site probably benign
R1129:Adrm1 UTSW 2 179,814,712 (GRCm39) unclassified probably benign
R2389:Adrm1 UTSW 2 179,816,116 (GRCm39) unclassified probably benign
R2875:Adrm1 UTSW 2 179,817,411 (GRCm39) missense probably damaging 0.96
R2876:Adrm1 UTSW 2 179,817,411 (GRCm39) missense probably damaging 0.96
R3085:Adrm1 UTSW 2 179,816,094 (GRCm39) splice site probably null
R4086:Adrm1 UTSW 2 179,814,627 (GRCm39) intron probably benign
R4608:Adrm1 UTSW 2 179,816,648 (GRCm39) splice site probably benign
R5416:Adrm1 UTSW 2 179,817,930 (GRCm39) missense probably benign 0.06
R5536:Adrm1 UTSW 2 179,813,981 (GRCm39) unclassified probably benign
R5575:Adrm1 UTSW 2 179,817,509 (GRCm39) missense probably benign 0.00
R8026:Adrm1 UTSW 2 179,817,002 (GRCm39) missense unknown
R8677:Adrm1 UTSW 2 179,813,832 (GRCm39) missense probably benign 0.06
R8929:Adrm1 UTSW 2 179,814,730 (GRCm39) missense unknown
Z1177:Adrm1 UTSW 2 179,817,165 (GRCm39) missense possibly damaging 0.59
Z1177:Adrm1 UTSW 2 179,816,708 (GRCm39) missense unknown
Posted On 2015-12-18