Incidental Mutation 'R2913:Arih2'
| ID |
254762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arih2
|
| Ensembl Gene |
ENSMUSG00000064145 |
| Gene Name |
ariadne RBR E3 ubiquitin protein ligase 2 |
| Synonyms |
TRIAD1 |
| MMRRC Submission |
040500-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2913 (G1)
|
| Quality Score |
168 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108480141-108526585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108521275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 68
(S68P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013338]
[ENSMUST00000193190]
[ENSMUST00000193197]
[ENSMUST00000193552]
[ENSMUST00000193643]
|
| AlphaFold |
Q9Z1K6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013338
AA Change: S68P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000013338
Gene: ENSMUSG00000064145
AA Change: S68P
| 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 |
possibly damaging
Transcript: ENSMUST00000193190
AA Change: S68P
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141914
Gene: ENSMUSG00000064145
AA Change: S68P
| 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 |
probably benign
Transcript: ENSMUST00000193197
|
| SMART Domains |
Protein: ENSMUSP00000141911
Gene: ENSMUSG00000064145
| 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 |
unknown
Transcript: ENSMUST00000193552
AA Change: S9P
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193643
AA Change: S68P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141369
Gene: ENSMUSG00000064145
AA Change: S68P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
36 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195623
|
| Meta Mutation Damage Score |
0.3895 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (58/58) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 30,934,887 (GRCm39) |
Q357R |
probably damaging |
Het |
| Adap1 |
C |
T |
5: 139,260,576 (GRCm39) |
|
probably null |
Het |
| Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
| Aldh3b1 |
T |
C |
19: 3,971,275 (GRCm39) |
|
probably benign |
Het |
| Cdcp3 |
T |
C |
7: 130,783,753 (GRCm39) |
S49P |
possibly damaging |
Het |
| Col1a2 |
C |
T |
6: 4,519,923 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,300,169 (GRCm39) |
S3159P |
unknown |
Het |
| Crocc |
C |
T |
4: 140,747,661 (GRCm39) |
R1496H |
probably damaging |
Het |
| Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,708,270 (GRCm39) |
T402A |
probably damaging |
Het |
| Etfa |
C |
A |
9: 55,389,613 (GRCm39) |
A254S |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,863,732 (GRCm39) |
L2501F |
probably damaging |
Het |
| Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
| Gpr157 |
G |
A |
4: 150,183,222 (GRCm39) |
V131I |
probably benign |
Het |
| Hbb-bh1 |
C |
T |
7: 103,492,254 (GRCm39) |
E22K |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,350,222 (GRCm39) |
T5040A |
possibly damaging |
Het |
| Hprt1 |
T |
C |
X: 52,109,016 (GRCm39) |
Y174H |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,239,157 (GRCm39) |
L341F |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,743,668 (GRCm39) |
S1592P |
possibly damaging |
Het |
| Itgam |
T |
C |
7: 127,711,578 (GRCm39) |
I641T |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
| Mapk3 |
T |
A |
7: 126,359,978 (GRCm39) |
C19* |
probably null |
Het |
| Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
| Med26 |
T |
G |
8: 73,249,956 (GRCm39) |
K381T |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,302,415 (GRCm39) |
E873G |
possibly damaging |
Het |
| Mrgpra9 |
T |
C |
7: 46,884,828 (GRCm39) |
I280V |
probably benign |
Het |
| Mroh9 |
T |
C |
1: 162,871,572 (GRCm39) |
Y637C |
probably damaging |
Het |
| Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,458 (GRCm39) |
N170Y |
probably benign |
Het |
| Or5j3 |
A |
G |
2: 86,128,733 (GRCm39) |
D191G |
probably damaging |
Het |
| Pam |
A |
C |
1: 97,850,854 (GRCm39) |
L168R |
probably damaging |
Het |
| Pikfyve |
G |
A |
1: 65,292,676 (GRCm39) |
V1376M |
probably damaging |
Het |
| Pomt2 |
A |
T |
12: 87,175,743 (GRCm39) |
N400K |
probably damaging |
Het |
| Pramel13 |
T |
C |
4: 144,119,304 (GRCm39) |
E421G |
probably damaging |
Het |
| Rbm45 |
C |
T |
2: 76,205,798 (GRCm39) |
P217S |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,268,971 (GRCm39) |
S832P |
possibly damaging |
Het |
| Ric3 |
A |
G |
7: 108,653,660 (GRCm39) |
F144L |
possibly damaging |
Het |
| Rrh |
G |
T |
3: 129,609,258 (GRCm39) |
A83E |
probably damaging |
Het |
| Rspo2 |
T |
A |
15: 42,941,510 (GRCm39) |
T138S |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,381,289 (GRCm39) |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
| Spata31d1d |
T |
C |
13: 59,874,769 (GRCm39) |
E922G |
possibly damaging |
Het |
| Spc25 |
T |
C |
2: 69,030,331 (GRCm39) |
H104R |
probably benign |
Het |
| Sptssa |
A |
T |
12: 54,703,267 (GRCm39) |
M1K |
probably null |
Het |
| Srrm2 |
G |
T |
17: 24,034,658 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
| Tmem181c-ps |
A |
G |
17: 6,888,608 (GRCm39) |
|
noncoding transcript |
Het |
| Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
| Trio |
T |
A |
15: 27,854,998 (GRCm39) |
Q728L |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,662,809 (GRCm39) |
V2731E |
probably benign |
Het |
| Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,392,356 (GRCm39) |
V1292A |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGAGCTATTCTGCCACATAC -3'
(R):5'- ACAGCCAAGGGTCAGATAGC -3'
Sequencing Primer
(F):5'- TTCGAGAGTGAGTTCCAGGAC -3'
(R):5'- TAGCAATGAAGAGGACTATGACCC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation