Incidental Mutation 'R0009:Arih2'
| ID |
8062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arih2
|
| Ensembl Gene |
ENSMUSG00000064145 |
| Gene Name |
ariadne RBR E3 ubiquitin protein ligase 2 |
| Synonyms |
TRIAD1 |
| MMRRC Submission |
038304-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0009 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108480141-108526585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108488926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 264
(H264L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013338]
[ENSMUST00000193190]
[ENSMUST00000193197]
[ENSMUST00000193552]
|
| AlphaFold |
Q9Z1K6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013338
AA Change: H264L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000013338
Gene: ENSMUSG00000064145
AA Change: H264L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
36 |
N/A |
INTRINSIC |
|
RING
|
138 |
171 |
1.21e-1 |
SMART |
|
IBR
|
207 |
269 |
7.29e-23 |
SMART |
|
ZnF_C2HC
|
255 |
271 |
2.03e0 |
SMART |
|
IBR
|
277 |
339 |
1.81e-9 |
SMART |
|
RING
|
299 |
339 |
5.86e-1 |
SMART |
|
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192853
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193190
AA Change: H264L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141914
Gene: ENSMUSG00000064145
AA Change: H264L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
36 |
N/A |
INTRINSIC |
|
RING
|
138 |
171 |
5.7e-4 |
SMART |
|
IBR
|
207 |
269 |
2.5e-25 |
SMART |
|
ZnF_C2HC
|
255 |
271 |
8.4e-3 |
SMART |
|
Blast:IBR
|
277 |
317 |
2e-17 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193197
AA Change: H31L
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141911
Gene: ENSMUSG00000064145
AA Change: H31L
| Domain | Start | End | E-Value | Type |
|---|
|
IBR
|
1 |
36 |
1.5e-3 |
SMART |
|
ZnF_C2HC
|
22 |
38 |
8.4e-3 |
SMART |
|
Blast:IBR
|
44 |
79 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194073
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195741
|
| Meta Mutation Damage Score |
0.9746 |
| Coding Region Coverage |
- 1x: 79.7%
- 3x: 70.1%
- 10x: 44.5%
- 20x: 24.1%
|
| Validation Efficiency |
93% (78/84) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been determined yet. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous inactivation of this gene causes altered dendritic cell physiology, enhanced liver apoptosis, and complete fetal lethality that is partially modified by genetic background. On a mixed genetic background, mice that survive past weaning succumb to a severe multiorgan inflammatory response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
G |
15: 60,791,482 (GRCm39) |
|
probably benign |
Het |
| Afm |
C |
A |
5: 90,693,243 (GRCm39) |
|
probably benign |
Het |
| Aplnr |
T |
A |
2: 84,967,620 (GRCm39) |
|
probably null |
Het |
| Ccdc116 |
T |
C |
16: 16,961,903 (GRCm39) |
E15G |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,432,247 (GRCm39) |
H45R |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,240,732 (GRCm39) |
L1569P |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,443,918 (GRCm39) |
Q457* |
probably null |
Het |
| Coro1a |
A |
T |
7: 126,300,585 (GRCm39) |
|
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,043,672 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ctdspl |
T |
C |
9: 118,849,114 (GRCm39) |
|
probably null |
Het |
| Dnase1 |
T |
C |
16: 3,856,810 (GRCm39) |
V147A |
probably damaging |
Het |
| Glud1 |
G |
A |
14: 34,056,225 (GRCm39) |
G300S |
probably benign |
Het |
| Gm4847 |
C |
T |
1: 166,458,055 (GRCm39) |
V433I |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,857,560 (GRCm39) |
S4048P |
probably benign |
Het |
| Hp1bp3 |
T |
A |
4: 137,948,994 (GRCm39) |
I19K |
probably benign |
Het |
| Il1a |
C |
T |
2: 129,150,994 (GRCm39) |
D10N |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,500,206 (GRCm39) |
N39I |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,816,053 (GRCm39) |
Y747F |
probably benign |
Het |
| Mcc |
C |
T |
18: 44,579,000 (GRCm39) |
E803K |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,398,362 (GRCm39) |
M1087K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,309,730 (GRCm39) |
D361E |
probably benign |
Het |
| Slc35e1 |
A |
T |
8: 73,238,553 (GRCm39) |
N318K |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,802,762 (GRCm39) |
E604V |
probably benign |
Het |
| Tbx19 |
A |
T |
1: 164,988,089 (GRCm39) |
S15T |
possibly damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,538 (GRCm39) |
A179V |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,956,355 (GRCm39) |
C874S |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,891,810 (GRCm39) |
Y885N |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,150,692 (GRCm39) |
C505S |
probably damaging |
Het |
| Xpo5 |
T |
C |
17: 46,515,712 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Arih2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01349:Arih2
|
APN |
9 |
108,482,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03213:Arih2
|
APN |
9 |
108,484,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Arih2
|
UTSW |
9 |
108,488,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0314:Arih2
|
UTSW |
9 |
108,485,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Arih2
|
UTSW |
9 |
108,493,916 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0450:Arih2
|
UTSW |
9 |
108,482,291 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0469:Arih2
|
UTSW |
9 |
108,482,291 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0865:Arih2
|
UTSW |
9 |
108,526,499 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R2099:Arih2
|
UTSW |
9 |
108,493,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2913:Arih2
|
UTSW |
9 |
108,521,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4383:Arih2
|
UTSW |
9 |
108,521,476 (GRCm39) |
start codon destroyed |
probably benign |
0.41 |
|
R4636:Arih2
|
UTSW |
9 |
108,491,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Arih2
|
UTSW |
9 |
108,488,859 (GRCm39) |
unclassified |
probably benign |
|
|
R5562:Arih2
|
UTSW |
9 |
108,484,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Arih2
|
UTSW |
9 |
108,485,172 (GRCm39) |
makesense |
probably null |
|
|
R6248:Arih2
|
UTSW |
9 |
108,488,841 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8312:Arih2
|
UTSW |
9 |
108,521,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8349:Arih2
|
UTSW |
9 |
108,488,872 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8449:Arih2
|
UTSW |
9 |
108,488,872 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8883:Arih2
|
UTSW |
9 |
108,486,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Arih2
|
UTSW |
9 |
108,488,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8912:Arih2
|
UTSW |
9 |
108,488,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8914:Arih2
|
UTSW |
9 |
108,488,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9091:Arih2
|
UTSW |
9 |
108,493,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9270:Arih2
|
UTSW |
9 |
108,493,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9348:Arih2
|
UTSW |
9 |
108,488,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9349:Arih2
|
UTSW |
9 |
108,488,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9350:Arih2
|
UTSW |
9 |
108,488,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9409:Arih2
|
UTSW |
9 |
108,488,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9410:Arih2
|
UTSW |
9 |
108,488,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9411:Arih2
|
UTSW |
9 |
108,488,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9415:Arih2
|
UTSW |
9 |
108,486,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9465:Arih2
|
UTSW |
9 |
108,488,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9466:Arih2
|
UTSW |
9 |
108,488,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9478:Arih2
|
UTSW |
9 |
108,488,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9479:Arih2
|
UTSW |
9 |
108,488,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9536:Arih2
|
UTSW |
9 |
108,488,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9776:Arih2
|
UTSW |
9 |
108,484,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-11-20 |
Incidental Mutation