Mutagenetix > Incidental Mutation

Incidental Mutation 'R0486:Ark2c'

42312

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

038685-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R0486 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

77543806-77652832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77571950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 91 (Q91L)

Ref Sequence

ENSEMBL: ENSMUSP00000026494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026494] [ENSMUST00000182024]

AlphaFold

E9QAU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026494
AA Change: Q91L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026494
Gene: ENSMUSG00000025427
AA Change: Q91L

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

unknown
Transcript: ENSMUST00000182153
AA Change: Q73L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182348

Meta Mutation Damage Score

0.0879

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

98% (65/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	T	C	4: 40,177,783 (GRCm39)	L268P	probably damaging	Het
Adam22	A	T	5: 8,380,048 (GRCm39)	H83Q	probably damaging	Het
Anln	T	C	9: 22,264,122 (GRCm39)	D886G	probably benign	Het
Arhgef11	T	A	3: 87,596,159 (GRCm39)		probably null	Het
Arl8b	A	T	6: 108,792,287 (GRCm39)	D116V	possibly damaging	Het
BC051665	C	T	13: 60,931,859 (GRCm39)	G180D	probably damaging	Het
Bloc1s2	A	G	19: 44,131,589 (GRCm39)		probably benign	Het
Ccdc185	T	G	1: 182,575,424 (GRCm39)	S422R	possibly damaging	Het
Cd101	T	C	3: 100,915,408 (GRCm39)	K720E	possibly damaging	Het
Cdh23	C	A	10: 60,222,725 (GRCm39)	A1236S	probably damaging	Het
Chd1	G	A	17: 15,954,604 (GRCm39)	A491T	probably damaging	Het
Chdh	T	C	14: 29,754,815 (GRCm39)	V275A	possibly damaging	Het
Cmtm2b	A	T	8: 105,057,047 (GRCm39)	I136F	probably damaging	Het
Cps1	T	C	1: 67,204,551 (GRCm39)	V457A	probably damaging	Het
Cwf19l1	A	G	19: 44,103,129 (GRCm39)	V362A	probably benign	Het
Cyp4f17	T	C	17: 32,743,797 (GRCm39)		probably benign	Het
Cyp4f18	C	A	8: 72,749,861 (GRCm39)	V263L	probably benign	Het
Dclre1a	A	G	19: 56,529,922 (GRCm39)		probably benign	Het
Dpp6	T	C	5: 27,866,640 (GRCm39)	I446T	probably benign	Het
F11r	T	C	1: 171,288,156 (GRCm39)	W61R	probably damaging	Het
Fam120b	C	T	17: 15,646,550 (GRCm39)		probably benign	Het
Fastkd2	T	C	1: 63,791,499 (GRCm39)	V669A	possibly damaging	Het
Foxg1	T	C	12: 49,431,314 (GRCm39)		probably benign	Het
Foxo3	A	G	10: 42,073,477 (GRCm39)	Y347H	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gbp7	C	A	3: 142,252,078 (GRCm39)		probably benign	Het
Glipr1	T	C	10: 111,832,754 (GRCm39)		probably benign	Het
Gm11555	A	G	11: 99,540,986 (GRCm39)	S8P	unknown	Het
H6pd	G	A	4: 150,067,393 (GRCm39)		probably benign	Het
Haus8	C	A	8: 71,709,181 (GRCm39)	G76W	probably damaging	Het
Haus8	C	T	8: 71,709,182 (GRCm39)	M75I	probably benign	Het
Kcnj13	C	A	1: 87,314,752 (GRCm39)	V157L	probably damaging	Het
Kcnt2	T	A	1: 140,437,218 (GRCm39)	C550*	probably null	Het
Kdm5d	A	G	Y: 927,107 (GRCm39)	N615S	probably damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ncapd2	G	A	6: 125,160,990 (GRCm39)	R292*	probably null	Het
Ngef	T	A	1: 87,406,848 (GRCm39)	N640I	probably damaging	Het
Nhlrc3	T	C	3: 53,359,858 (GRCm39)	Y335C	probably damaging	Het
Nipbl	A	T	15: 8,368,354 (GRCm39)		probably benign	Het
Nop2	A	G	6: 125,117,636 (GRCm39)	K434R	probably null	Het
Nr4a3	T	C	4: 48,056,525 (GRCm39)		probably benign	Het
Or8b35	A	G	9: 37,903,998 (GRCm39)	N70S	possibly damaging	Het
Piezo2	A	C	18: 63,162,132 (GRCm39)	I2233R	probably damaging	Het
Prag1	A	T	8: 36,613,787 (GRCm39)	E1113V	probably damaging	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Psmd1	T	A	1: 86,022,012 (GRCm39)	N611K	probably damaging	Het
Ptpn7	C	T	1: 135,065,096 (GRCm39)	T168I	probably damaging	Het
Pus1	A	T	5: 110,927,596 (GRCm39)	V53E	probably damaging	Het
Rgs22	A	G	15: 36,093,028 (GRCm39)	M415T	probably damaging	Het
Rnf17	C	T	14: 56,751,632 (GRCm39)	T1490M	probably benign	Het
Rnf20	C	A	4: 49,645,907 (GRCm39)	L332I	possibly damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spam1	A	T	6: 24,796,394 (GRCm39)	Q115L	probably damaging	Het
Syce1l	A	T	8: 114,381,395 (GRCm39)		probably null	Het
Synj1	T	C	16: 90,735,151 (GRCm39)		probably benign	Het
Tas2r126	A	T	6: 42,412,225 (GRCm39)	I253F	probably benign	Het
Tecpr2	G	A	12: 110,862,803 (GRCm39)	V72I	probably benign	Het
Tfap2a	G	T	13: 40,882,170 (GRCm39)	P45Q	probably damaging	Het
Trip12	C	A	1: 84,738,805 (GRCm39)	G714*	probably null	Het
Wdr31	A	G	4: 62,372,130 (GRCm39)	S330P	probably damaging	Het
Wdr64	T	C	1: 175,622,769 (GRCm39)		probably benign	Het
Yes1	T	A	5: 32,812,926 (GRCm39)	Y343*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGAATGCCACTACCAGAGGCAAAAG -3'
(R):5'- AAGGTCTCAGCATCCTCACGCTAC -3'

Sequencing Primer
(F):5'- GCTGAAGAACACACTTTGTGACTG -3'
(R):5'- CACGCTACCTCCTGCCG -3'

Posted On

2013-05-23