Incidental Mutation 'IGL01802:Ark2c'
ID |
155532 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ark2c
|
Ensembl Gene |
ENSMUSG00000025427 |
Gene Name |
arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C |
Synonyms |
Rnf165, G630064H08Rik, 2900024M11Rik, Ark2c, LOC225743 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
IGL01802
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
77543806-77652832 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77550610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 106
(L106Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138494
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026494]
[ENSMUST00000182024]
|
AlphaFold |
E9QAU8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026494
AA Change: L299Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000026494 Gene: ENSMUSG00000025427 AA Change: L299Q
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
121 |
N/A |
INTRINSIC |
RING
|
295 |
335 |
1.4e-8 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182024
AA Change: L106Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138494 Gene: ENSMUSG00000025427 AA Change: L106Q
Domain | Start | End | E-Value | Type |
RING
|
102 |
142 |
1.4e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182153
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182805
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Encoded in regions involved in pericentric inversions in patients with bipolar affective disorder. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a gene trap allele exhibit partial neonatal lethality followed by complete postnatal lethality, growth retardation, abnormal joint mobility, cyanosis, abnormal motor neuron innervation pattern and abnormal phrenic nerve innervation pattern to diaphragm. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
C |
11: 9,242,438 (GRCm39) |
M1434L |
probably benign |
Het |
Acta2 |
T |
A |
19: 34,220,836 (GRCm39) |
I291F |
possibly damaging |
Het |
Arhgap10 |
A |
G |
8: 78,146,714 (GRCm39) |
I230T |
probably damaging |
Het |
Copb1 |
A |
C |
7: 113,826,011 (GRCm39) |
S658A |
probably benign |
Het |
Crtc3 |
A |
T |
7: 80,254,116 (GRCm39) |
C244* |
probably null |
Het |
Cyp4a14 |
G |
A |
4: 115,352,134 (GRCm39) |
R93* |
probably null |
Het |
Dclk2 |
A |
G |
3: 86,706,334 (GRCm39) |
F586L |
probably damaging |
Het |
Dmtn |
G |
T |
14: 70,842,259 (GRCm39) |
F358L |
probably damaging |
Het |
Enam |
A |
T |
5: 88,651,533 (GRCm39) |
H1014L |
possibly damaging |
Het |
Ercc6 |
A |
G |
14: 32,284,531 (GRCm39) |
T765A |
probably damaging |
Het |
Gtf3c4 |
T |
C |
2: 28,724,092 (GRCm39) |
K547E |
probably damaging |
Het |
Hdc |
G |
T |
2: 126,445,814 (GRCm39) |
A230D |
probably benign |
Het |
Hipk3 |
A |
T |
2: 104,302,198 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
A |
G |
12: 25,044,999 (GRCm39) |
I264M |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,401,494 (GRCm39) |
V387I |
probably benign |
Het |
Mmp8 |
T |
G |
9: 7,567,441 (GRCm39) |
F434V |
probably benign |
Het |
Nr3c2 |
C |
A |
8: 77,635,224 (GRCm39) |
Y108* |
probably null |
Het |
Or4k5 |
T |
G |
14: 50,386,173 (GRCm39) |
S53R |
probably benign |
Het |
Or5b119 |
T |
C |
19: 13,456,729 (GRCm39) |
M278V |
probably benign |
Het |
Pnpt1 |
A |
T |
11: 29,104,306 (GRCm39) |
D560V |
probably damaging |
Het |
Rbbp8nl |
T |
C |
2: 179,921,488 (GRCm39) |
S299G |
probably benign |
Het |
Slc9a4 |
A |
T |
1: 40,646,958 (GRCm39) |
N484I |
probably damaging |
Het |
Sncaip |
C |
T |
18: 53,002,109 (GRCm39) |
S210F |
probably damaging |
Het |
Tiam1 |
G |
T |
16: 89,695,260 (GRCm39) |
Q66K |
possibly damaging |
Het |
Ttc39a |
C |
A |
4: 109,290,281 (GRCm39) |
Y330* |
probably null |
Het |
Ush2a |
T |
G |
1: 188,169,154 (GRCm39) |
D1098E |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,019,470 (GRCm39) |
E518G |
probably benign |
Het |
|
Other mutations in Ark2c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02014:Ark2c
|
APN |
18 |
77,556,055 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03210:Ark2c
|
APN |
18 |
77,554,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R0486:Ark2c
|
UTSW |
18 |
77,571,950 (GRCm39) |
missense |
probably damaging |
0.97 |
R1523:Ark2c
|
UTSW |
18 |
77,550,634 (GRCm39) |
missense |
probably benign |
0.17 |
R1650:Ark2c
|
UTSW |
18 |
77,550,113 (GRCm39) |
splice site |
probably null |
|
R1853:Ark2c
|
UTSW |
18 |
77,550,671 (GRCm39) |
missense |
possibly damaging |
0.68 |
R3402:Ark2c
|
UTSW |
18 |
77,652,782 (GRCm39) |
missense |
probably benign |
0.02 |
R5039:Ark2c
|
UTSW |
18 |
77,550,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R5415:Ark2c
|
UTSW |
18 |
77,554,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R5875:Ark2c
|
UTSW |
18 |
77,650,877 (GRCm39) |
intron |
probably benign |
|
R6544:Ark2c
|
UTSW |
18 |
77,650,931 (GRCm39) |
intron |
probably benign |
|
R7873:Ark2c
|
UTSW |
18 |
77,554,449 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8483:Ark2c
|
UTSW |
18 |
77,556,034 (GRCm39) |
missense |
probably benign |
0.06 |
R8867:Ark2c
|
UTSW |
18 |
77,563,182 (GRCm39) |
missense |
possibly damaging |
0.59 |
X0067:Ark2c
|
UTSW |
18 |
77,550,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-02-04 |