Incidental Mutation 'R5317:Arih1'
ID |
405876 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arih1
|
Ensembl Gene |
ENSMUSG00000025234 |
Gene Name |
ariadne RBR E3 ubiquitin protein ligase 1 |
Synonyms |
UIP77 |
MMRRC Submission |
042900-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R5317 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
59295541-59393901 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 59300619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 542
(H542Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126531
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026264]
[ENSMUST00000165322]
[ENSMUST00000171856]
[ENSMUST00000171975]
|
AlphaFold |
Q9Z1K5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026264
|
SMART Domains |
Protein: ENSMUSP00000026264 Gene: ENSMUSG00000025234
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
57 |
N/A |
INTRINSIC |
low complexity region
|
60 |
90 |
N/A |
INTRINSIC |
RING
|
184 |
232 |
1.34e-1 |
SMART |
IBR
|
254 |
301 |
8.2e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165322
AA Change: H463Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000131516 Gene: ENSMUSG00000025234 AA Change: H463Q
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
46 |
N/A |
INTRINSIC |
RING
|
105 |
153 |
1.34e-1 |
SMART |
IBR
|
175 |
236 |
1.16e-25 |
SMART |
RING
|
195 |
266 |
2.01e0 |
SMART |
IBR
|
244 |
308 |
2.75e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168456
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171856
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171975
AA Change: H542Q
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000126531 Gene: ENSMUSG00000025234 AA Change: H542Q
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
57 |
N/A |
INTRINSIC |
low complexity region
|
60 |
90 |
N/A |
INTRINSIC |
RING
|
184 |
232 |
1.34e-1 |
SMART |
IBR
|
254 |
315 |
1.16e-25 |
SMART |
RING
|
274 |
345 |
2.01e0 |
SMART |
IBR
|
323 |
387 |
2.75e-9 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccn4 |
T |
G |
15: 66,789,131 (GRCm39) |
S206A |
probably benign |
Het |
Cnot8 |
T |
C |
11: 58,004,029 (GRCm39) |
S155P |
probably damaging |
Het |
Dcc |
C |
T |
18: 71,517,226 (GRCm39) |
E810K |
possibly damaging |
Het |
Dmrt2 |
T |
C |
19: 25,650,844 (GRCm39) |
V10A |
probably benign |
Het |
Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
Eif4a3 |
G |
T |
11: 119,185,490 (GRCm39) |
H117N |
probably damaging |
Het |
Fhip2a |
T |
A |
19: 57,370,141 (GRCm39) |
|
probably null |
Het |
Gpr179 |
T |
A |
11: 97,228,671 (GRCm39) |
Q1161H |
probably damaging |
Het |
Grm1 |
T |
G |
10: 10,622,443 (GRCm39) |
M427L |
possibly damaging |
Het |
Grxcr2 |
T |
A |
18: 42,131,916 (GRCm39) |
H51L |
probably damaging |
Het |
Il1rn |
C |
T |
2: 24,239,554 (GRCm39) |
T150I |
probably benign |
Het |
Kcnc4 |
C |
T |
3: 107,366,055 (GRCm39) |
R51H |
probably damaging |
Het |
Kcnh3 |
T |
C |
15: 99,125,822 (GRCm39) |
S160P |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,504,971 (GRCm39) |
I2332M |
possibly damaging |
Het |
Mcm9 |
G |
A |
10: 53,414,330 (GRCm39) |
P250L |
probably damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mtmr2 |
T |
C |
9: 13,704,475 (GRCm39) |
F201L |
probably benign |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Pan3 |
T |
C |
5: 147,480,020 (GRCm39) |
|
probably null |
Het |
Pcdhgb7 |
T |
A |
18: 37,885,887 (GRCm39) |
D352E |
probably benign |
Het |
Pdgfa |
A |
G |
5: 138,974,102 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
C |
1: 20,520,528 (GRCm39) |
D1938G |
probably damaging |
Het |
Plac8 |
C |
T |
5: 100,704,345 (GRCm39) |
|
probably null |
Het |
Rab11fip3 |
T |
C |
17: 26,287,052 (GRCm39) |
E367G |
possibly damaging |
Het |
Sgo2a |
C |
T |
1: 58,054,683 (GRCm39) |
P289L |
probably benign |
Het |
Slc22a18 |
T |
C |
7: 143,052,896 (GRCm39) |
Y374H |
probably damaging |
Het |
Slco2a1 |
T |
C |
9: 102,956,778 (GRCm39) |
V530A |
probably benign |
Het |
Spty2d1 |
A |
T |
7: 46,648,049 (GRCm39) |
S293R |
possibly damaging |
Het |
Stt3b |
G |
T |
9: 115,081,578 (GRCm39) |
Y569* |
probably null |
Het |
Tas2r140 |
A |
G |
6: 133,032,543 (GRCm39) |
Y72H |
probably benign |
Het |
Usp35 |
C |
T |
7: 96,960,846 (GRCm39) |
R860H |
probably damaging |
Het |
Vmn2r130 |
T |
A |
17: 23,282,557 (GRCm39) |
M79K |
probably benign |
Het |
Vsig10l |
T |
C |
7: 43,114,247 (GRCm39) |
S190P |
probably damaging |
Het |
Wwc2 |
C |
T |
8: 48,300,590 (GRCm39) |
D958N |
unknown |
Het |
Zfp318 |
AAGAAGG |
A |
17: 46,723,463 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Arih1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02114:Arih1
|
APN |
9 |
59,333,452 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02616:Arih1
|
APN |
9 |
59,319,759 (GRCm39) |
missense |
probably benign |
0.41 |
P0037:Arih1
|
UTSW |
9 |
59,313,076 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0411:Arih1
|
UTSW |
9 |
59,393,266 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0416:Arih1
|
UTSW |
9 |
59,333,993 (GRCm39) |
splice site |
probably benign |
|
R0602:Arih1
|
UTSW |
9 |
59,302,154 (GRCm39) |
splice site |
probably benign |
|
R1513:Arih1
|
UTSW |
9 |
59,310,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R1934:Arih1
|
UTSW |
9 |
59,302,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R4880:Arih1
|
UTSW |
9 |
59,344,168 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5023:Arih1
|
UTSW |
9 |
59,393,515 (GRCm39) |
missense |
unknown |
|
R5057:Arih1
|
UTSW |
9 |
59,393,515 (GRCm39) |
missense |
unknown |
|
R7348:Arih1
|
UTSW |
9 |
59,393,341 (GRCm39) |
missense |
probably damaging |
0.98 |
R8114:Arih1
|
UTSW |
9 |
59,303,836 (GRCm39) |
missense |
probably benign |
0.04 |
R8305:Arih1
|
UTSW |
9 |
59,303,770 (GRCm39) |
missense |
probably benign |
0.14 |
R9150:Arih1
|
UTSW |
9 |
59,344,069 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9621:Arih1
|
UTSW |
9 |
59,393,520 (GRCm39) |
small deletion |
probably benign |
|
R9748:Arih1
|
UTSW |
9 |
59,300,581 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1191:Arih1
|
UTSW |
9 |
59,393,605 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAACAGAATTCTGGTACTACAGACC -3'
(R):5'- TTGGTTTTCATCCAGCAGCC -3'
Sequencing Primer
(F):5'- ATTCTGGTACTACAGACCAGCGG -3'
(R):5'- GAGGCATCTTGATAAACCTGTGC -3'
|
Posted On |
2016-07-22 |