Incidental Mutation 'R5415:Ark2c'
| ID |
501039 |
| 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 |
042984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R5415 (G1)
|
| Quality Score |
202 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
77543806-77652832 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 77554435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 60
(V60L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026494]
[ENSMUST00000182024]
|
| AlphaFold |
E9QAU8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026494
AA Change: V253L
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026494
Gene: ENSMUSG00000025427
AA Change: V253L
| 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: V60L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138494
Gene: ENSMUSG00000025427
AA Change: V60L
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
102 |
142 |
1.4e-8 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182153
AA Change: V200L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182348
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182805
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef18 |
G |
A |
8: 3,438,075 (GRCm39) |
R303H |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,570,690 (GRCm39) |
Q556L |
probably benign |
Het |
| Ccr1 |
G |
T |
9: 123,764,413 (GRCm39) |
P39H |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,451,816 (GRCm39) |
L400Q |
probably damaging |
Het |
| Cfap298 |
G |
T |
16: 90,722,953 (GRCm39) |
D260E |
probably benign |
Het |
| Cideb |
T |
C |
14: 55,995,312 (GRCm39) |
E58G |
probably damaging |
Het |
| Drd2 |
A |
G |
9: 49,313,553 (GRCm39) |
K241E |
possibly damaging |
Het |
| Ect2 |
C |
T |
3: 27,201,002 (GRCm39) |
C126Y |
probably damaging |
Het |
| Eef1d |
T |
C |
15: 75,775,030 (GRCm39) |
T210A |
probably benign |
Het |
| Enpp2 |
G |
A |
15: 54,745,552 (GRCm39) |
H315Y |
probably damaging |
Het |
| Ero1b |
A |
T |
13: 12,616,656 (GRCm39) |
M362L |
probably benign |
Het |
| Exosc2 |
A |
G |
2: 31,562,578 (GRCm39) |
K73E |
possibly damaging |
Het |
| Gm9637 |
T |
A |
14: 19,402,143 (GRCm38) |
|
noncoding transcript |
Het |
| Gstm5 |
A |
G |
3: 107,804,811 (GRCm39) |
D101G |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,519,699 (GRCm39) |
D2137G |
probably benign |
Het |
| Mecom |
T |
C |
3: 30,011,675 (GRCm39) |
D619G |
possibly damaging |
Het |
| Met |
A |
G |
6: 17,527,084 (GRCm39) |
I512V |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,937,658 (GRCm39) |
K753R |
probably null |
Het |
| Nfatc4 |
A |
G |
14: 56,070,091 (GRCm39) |
D753G |
probably benign |
Het |
| Or2l5 |
T |
A |
16: 19,333,996 (GRCm39) |
H130L |
possibly damaging |
Het |
| Or4c113 |
T |
A |
2: 88,885,240 (GRCm39) |
T177S |
probably benign |
Het |
| Or4c12 |
T |
A |
2: 89,773,731 (GRCm39) |
T243S |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp9 |
C |
T |
16: 35,763,752 (GRCm39) |
A10V |
probably damaging |
Het |
| Pcdh8 |
C |
A |
14: 80,007,688 (GRCm39) |
E292* |
probably null |
Het |
| Pdpn |
A |
T |
4: 142,995,788 (GRCm39) |
V161D |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,711,628 (GRCm39) |
V1198A |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,476,342 (GRCm39) |
S21P |
probably benign |
Het |
| Plcb1 |
G |
T |
2: 135,189,322 (GRCm39) |
V817F |
possibly damaging |
Het |
| Polk |
T |
C |
13: 96,620,463 (GRCm39) |
Y579C |
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,511 (GRCm39) |
N129D |
probably benign |
Het |
| Psg29 |
C |
A |
7: 16,945,561 (GRCm39) |
|
probably null |
Het |
| Rims4 |
C |
T |
2: 163,760,596 (GRCm39) |
R3H |
probably benign |
Het |
| Rps6kl1 |
A |
T |
12: 85,186,155 (GRCm39) |
C292S |
probably benign |
Het |
| Uaca |
G |
T |
9: 60,777,421 (GRCm39) |
G603C |
possibly damaging |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,416 (GRCm39) |
H228R |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,623,658 (GRCm39) |
T221A |
probably benign |
Het |
| Zfp647 |
C |
A |
15: 76,795,593 (GRCm39) |
V356L |
possibly damaging |
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 |
|
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 |
|
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'- GCTGTAGAACACGGAACCAG -3'
(R):5'- ATGAGGTATGTTGCCCTGAAGG -3'
Sequencing Primer
(F):5'- CAGAACAAAGGCCCCTGGG -3'
(R):5'- GGGCACCGACTTCATTCC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation