Incidental Mutation 'R1129:Adrm1'
ID 96460
Institutional Source Beutler Lab
Gene Symbol Adrm1
Ensembl Gene ENSMUSG00000039041
Gene Name adhesion regulating molecule 1 26S proteasome ubiquitin receptor
Synonyms Rpn13, 1110063P18Rik, 2510006J17Rik, ARM-1, Gp110
MMRRC Submission 039202-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.655) question?
Stock # R1129 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 179813381-179818076 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to C at 179814712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000015791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015791] [ENSMUST00000061437]
AlphaFold Q9JKV1
PDB Structure LAMININ ALPHA5 CHAIN N-TERMINAL FRAGMENT [X-RAY DIFFRACTION]
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 unknown
Transcript: ENSMUST00000061437
AA Change: V93L
SMART Domains Protein: ENSMUSP00000050076
Gene: ENSMUSG00000039041
AA Change: V93L

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: ENSMUST00000147383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149812
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.1%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bub1b A T 2: 118,445,487 (GRCm39) D269V probably damaging Het
Ccdc73 A G 2: 104,822,535 (GRCm39) N828S possibly damaging Het
Cdk12 T C 11: 98,136,201 (GRCm39) S1152P unknown Het
Cnnm3 T C 1: 36,552,097 (GRCm39) L369P probably damaging Het
Cxadr A G 16: 78,133,321 (GRCm39) K360R probably benign Het
Dlg2 G A 7: 92,080,382 (GRCm39) probably null Het
Dst T C 1: 34,238,635 (GRCm39) V3779A probably benign Het
Fbxo16 G A 14: 65,532,981 (GRCm39) R161K probably benign Het
Gm9726 T A 12: 93,895,300 (GRCm39) noncoding transcript Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Hectd4 A G 5: 121,448,662 (GRCm39) T337A possibly damaging Het
Ints1 A G 5: 139,744,226 (GRCm39) L1510S probably benign Het
Kansl2 T C 15: 98,431,462 (GRCm39) Y63C probably damaging Het
Lats2 T C 14: 57,937,790 (GRCm39) E233G possibly damaging Het
Naca T C 10: 127,876,071 (GRCm39) probably benign Het
Pprc1 G T 19: 46,052,245 (GRCm39) A591S probably benign Het
Sbsn C T 7: 30,452,865 (GRCm39) P627S probably benign Het
Sema6b T C 17: 56,431,347 (GRCm39) E772G probably benign Het
Tmem33 A G 5: 67,421,803 (GRCm39) probably null Het
Tmtc4 A G 14: 123,180,565 (GRCm39) probably null Het
Ubqlnl A T 7: 103,798,857 (GRCm39) H213Q probably damaging Het
Ugt1a10 T C 1: 87,983,331 (GRCm39) M43T probably benign Het
Vmn2r68 T C 7: 84,886,712 (GRCm39) probably null Het
Zcchc14 A G 8: 122,335,154 (GRCm39) probably benign Het
Other mutations in Adrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Adrm1 APN 2 179,817,756 (GRCm39) splice site probably benign
IGL02938:Adrm1 APN 2 179,817,395 (GRCm39) missense probably damaging 0.98
R0718:Adrm1 UTSW 2 179,816,940 (GRCm39) splice site 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
Predicted Primers PCR Primer
(F):5'- TAAGTCGTCTGGTCCTCAGAGAGC -3'
(R):5'- GTGCCTACAGATAAGTCCACGAGC -3'

Sequencing Primer
(F):5'- GGGTCTGAGACTTCTTGACTCC -3'
(R):5'- CGGTGCCTAACCACCAG -3'
Posted On 2014-01-05