Incidental Mutation 'R3402:Ark2c'
| ID |
426254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ark2c
|
| Ensembl Gene |
ENSMUSG00000025427 |
| Gene Name |
arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C |
| Synonyms |
Rnf165, G630064H08Rik, 2900024M11Rik, Ark2c, LOC225743 |
| MMRRC Submission |
040621-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R3402 (G1)
|
| Quality Score |
67 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
77543806-77652832 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77652782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 6
(V6A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026494]
[ENSMUST00000182024]
[ENSMUST00000182146]
|
| AlphaFold |
E9QAU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026494
AA Change: V6A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000026494
Gene: ENSMUSG00000025427
AA Change: V6A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
121 |
N/A |
INTRINSIC |
|
RING
|
295 |
335 |
1.4e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182024
|
| SMART Domains |
Protein: ENSMUSP00000138494
Gene: ENSMUSG00000025427
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
102 |
142 |
1.4e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182146
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182153
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182294
|
| Meta Mutation Damage Score |
0.0964 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
97% (30/31) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
A |
T |
5: 89,849,592 (GRCm39) |
F609L |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,691,661 (GRCm39) |
N1642S |
probably damaging |
Het |
| Afdn |
C |
T |
17: 14,104,176 (GRCm39) |
R1156C |
probably damaging |
Het |
| Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,551,229 (GRCm39) |
E2129G |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Etl4 |
A |
T |
2: 20,786,693 (GRCm39) |
H763L |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
| Ift25 |
A |
G |
4: 107,130,803 (GRCm39) |
|
probably null |
Het |
| Kat2b |
C |
T |
17: 53,972,881 (GRCm39) |
P732S |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,434,719 (GRCm39) |
N387S |
probably benign |
Het |
| Nlrp4d |
A |
T |
7: 10,096,781 (GRCm39) |
N906K |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,859,895 (GRCm39) |
I17V |
probably benign |
Het |
| Or5b120 |
G |
A |
19: 13,480,312 (GRCm39) |
A202T |
probably benign |
Het |
| Pkn1 |
G |
A |
8: 84,396,859 (GRCm39) |
R926W |
probably damaging |
Het |
| Ppp1r37 |
C |
T |
7: 19,266,712 (GRCm39) |
A392T |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,288,660 (GRCm39) |
T538A |
possibly damaging |
Het |
| Sel1l2 |
T |
A |
2: 140,082,958 (GRCm39) |
Y560F |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,703,110 (GRCm39) |
H161R |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,440,763 (GRCm39) |
Y1212H |
probably damaging |
Het |
| Stk3 |
G |
T |
15: 34,945,144 (GRCm39) |
|
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,570,787 (GRCm39) |
S322G |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
C |
T |
15: 43,730,417 (GRCm39) |
V209M |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,549,845 (GRCm39) |
E701V |
probably damaging |
Het |
| Upk3a |
T |
C |
15: 84,902,384 (GRCm39) |
|
probably null |
Het |
| Zfp180 |
G |
A |
7: 23,805,170 (GRCm39) |
V530I |
probably benign |
Het |
|
| Other mutations in Ark2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01802:Ark2c
|
APN |
18 |
77,550,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGGGACCCAAATTCACC -3'
(R):5'- CCTTTGAATGTCGAGAGGGG -3'
Sequencing Primer
(F):5'- GAGCAGCACCATTCGCCTC -3'
(R):5'- GGAGCCTTTCCATGGGC -3'
|
| Posted On |
2016-08-31 |
Incidental Mutation