Incidental Mutation 'R2389:Adrm1'
| ID |
247723 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.655)
|
| Stock # |
R2389 (G1)
|
| Quality Score |
163 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
179813381-179818076 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 179816116 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
| Domain | Start | End | E-Value | Type |
|---|
|
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: Q157K
|
| SMART Domains |
Protein: ENSMUSP00000050076
Gene: ENSMUSG00000039041
AA Change: Q157K
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000147341
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155357
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
T |
C |
2: 158,467,132 (GRCm39) |
V24A |
probably benign |
Het |
| Cdk13 |
T |
A |
13: 17,926,361 (GRCm39) |
H813L |
probably damaging |
Het |
| Cdkal1 |
T |
A |
13: 29,736,219 (GRCm39) |
H300L |
probably damaging |
Het |
| Cnksr1 |
T |
C |
4: 133,961,057 (GRCm39) |
I235V |
probably benign |
Het |
| Ctnnd1 |
T |
A |
2: 84,454,615 (GRCm39) |
Q11L |
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,122,618 (GRCm39) |
I2113V |
possibly damaging |
Het |
| Eng |
T |
C |
2: 32,547,684 (GRCm39) |
|
probably null |
Het |
| Gria2 |
A |
G |
3: 80,609,932 (GRCm39) |
W626R |
probably damaging |
Het |
| Kctd1 |
A |
G |
18: 15,195,268 (GRCm39) |
S452P |
possibly damaging |
Het |
| Kdm4c |
T |
C |
4: 74,252,107 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Nat8f7 |
C |
A |
6: 85,684,476 (GRCm39) |
M121I |
probably benign |
Het |
| Ppfibp1 |
A |
T |
6: 146,923,669 (GRCm39) |
H667L |
probably damaging |
Het |
| Pramel31 |
T |
A |
4: 144,089,983 (GRCm39) |
L341H |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,280,670 (GRCm39) |
N452D |
possibly damaging |
Het |
| Rab17 |
T |
C |
1: 90,891,926 (GRCm39) |
T33A |
probably benign |
Het |
| Rxfp3 |
A |
G |
15: 11,036,770 (GRCm39) |
C201R |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 100,014,153 (GRCm39) |
Y2142C |
probably benign |
Het |
| Stx6 |
T |
C |
1: 155,073,164 (GRCm39) |
V225A |
possibly damaging |
Het |
| Ugt2b5 |
G |
A |
5: 87,275,541 (GRCm39) |
P437S |
probably damaging |
Het |
| Usp13 |
A |
G |
3: 32,959,613 (GRCm39) |
K568R |
probably benign |
Het |
| Zan |
A |
G |
5: 137,474,642 (GRCm39) |
|
probably null |
Het |
| Zbtb8b |
T |
C |
4: 129,327,066 (GRCm39) |
E33G |
probably benign |
Het |
| Zcchc17 |
T |
A |
4: 130,220,997 (GRCm39) |
K185* |
probably null |
Het |
|
| Other mutations in Adrm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
R1129:Adrm1
|
UTSW |
2 |
179,814,712 (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'- CATTGTCCTTCAGTGACTGGGG -3'
(R):5'- GGAACACACAGACATGGCTG -3'
Sequencing Primer
(F):5'- CAGAGCCTGCTTGATAAGTTCTG -3'
(R):5'- CTGAGAGAAAACCCCGGGTCTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation