Mutagenetix > Incidental Mutation

Incidental Mutation 'R8483:Ark2c'

657653

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

067927-MU

Accession Numbers

Essential gene?

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

Stock #

R8483 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77543806-77652832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77556034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 174 (A174V)

Ref Sequence

ENSEMBL: ENSMUSP00000026494 (fasta)

Gene Model

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

AlphaFold

E9QAU8

Predicted Effect

probably benign
Transcript: ENSMUST00000026494
AA Change: A174V

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000026494
Gene: ENSMUSG00000025427
AA Change: A174V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (54/54)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang6	A	G	14: 44,239,285 (GRCm39)	*148Q	probably null	Het
Ankrd28	A	T	14: 31,457,048 (GRCm39)		probably null	Het
Aurkc	T	A	7: 6,999,664 (GRCm39)	L57*	probably null	Het
Brca1	T	C	11: 101,416,802 (GRCm39)	D444G	probably damaging	Het
Cd200l1	T	A	16: 45,240,235 (GRCm39)	I134F	possibly damaging	Het
Cdhr4	T	C	9: 107,872,198 (GRCm39)	V204A	probably damaging	Het
Chd7	A	G	4: 8,822,412 (GRCm39)	D835G	possibly damaging	Het
Cux1	C	A	5: 136,303,944 (GRCm39)	A1328S	possibly damaging	Het
Cwc27	G	T	13: 104,940,772 (GRCm39)	P196T	probably benign	Het
Cwc27	C	A	13: 104,940,776 (GRCm39)	L194F	possibly damaging	Het
Cyp39a1	A	G	17: 43,993,898 (GRCm39)	D186G	probably benign	Het
Dnah3	T	C	7: 119,536,253 (GRCm39)	I3677V	probably benign	Het
Dnmt3b	A	G	2: 153,516,306 (GRCm39)	D477G	probably damaging	Het
Drc1	A	T	5: 30,507,785 (GRCm39)	Y269F	probably benign	Het
Esco2	T	C	14: 66,069,118 (GRCm39)	H64R	probably benign	Het
Gcnt3	A	T	9: 69,941,959 (GRCm39)	V203E	probably damaging	Het
Gpam	A	C	19: 55,077,374 (GRCm39)	V139G	probably damaging	Het
Gsta3	G	A	1: 21,333,063 (GRCm39)	S104N	probably damaging	Het
Hsd17b13	C	T	5: 104,125,049 (GRCm39)	G45R	probably damaging	Het
Ighe	T	C	12: 113,235,808 (GRCm39)	M173V		Het
Ipo5	A	G	14: 121,183,560 (GRCm39)	E1046G	probably benign	Het
Kank4	T	A	4: 98,659,615 (GRCm39)	Q821L	probably damaging	Het
Kat6b	G	T	14: 21,719,461 (GRCm39)	S1271I	probably damaging	Het
Klhl1	A	G	14: 96,619,370 (GRCm39)	S176P	probably benign	Het
Lbhd2	G	A	12: 111,378,190 (GRCm39)	D86N	probably damaging	Het
Lrp1	G	A	10: 127,394,519 (GRCm39)	R2565C	probably damaging	Het
Lrrc55	A	T	2: 85,022,295 (GRCm39)	C299S	probably benign	Het
Mtres1	T	C	10: 43,408,915 (GRCm39)	Y76C	probably benign	Het
Nprl3	T	A	11: 32,213,083 (GRCm39)	S44C	probably damaging	Het
Nucks1	A	G	1: 131,855,829 (GRCm39)	H86R	possibly damaging	Het
Or14j3	A	G	17: 37,900,866 (GRCm39)	V126A	possibly damaging	Het
Or4s2	A	G	2: 88,473,678 (GRCm39)	D189G	probably benign	Het
Or6c219	T	A	10: 129,780,998 (GRCm39)	H311L	probably benign	Het
Ovgp1	T	A	3: 105,894,311 (GRCm39)		probably benign	Het
Oxa1l	G	A	14: 54,606,001 (GRCm39)		probably null	Het
Patj	C	A	4: 98,312,539 (GRCm39)	H292Q	probably damaging	Het
Pcdha9	A	G	18: 37,131,636 (GRCm39)	N235S	probably benign	Het
Pcdhb12	A	T	18: 37,570,590 (GRCm39)	T579S	possibly damaging	Het
Pde3b	A	G	7: 114,118,803 (GRCm39)	I647M	probably benign	Het
Pdp1	T	C	4: 11,961,982 (GRCm39)	R110G	probably benign	Het
Prb1a	T	G	6: 132,185,398 (GRCm39)	R78S	unknown	Het
Prmt8	A	C	6: 127,680,976 (GRCm39)		probably null	Het
Semp2l2a	T	A	8: 13,888,229 (GRCm39)		probably benign	Het
Slc35f2	T	A	9: 53,716,985 (GRCm39)	Y249*	probably null	Het
Smok2b	A	C	17: 13,453,908 (GRCm39)	M23L	probably benign	Het
Sra1	A	G	18: 36,800,879 (GRCm39)	I153T	probably benign	Het
Stk38l	T	A	6: 146,660,017 (GRCm39)	H16Q	possibly damaging	Het
Tent5c	T	A	3: 100,379,784 (GRCm39)	H324L	probably damaging	Het
Unc80	T	C	1: 66,732,869 (GRCm39)	S3073P	possibly damaging	Het
Usp24	T	C	4: 106,230,953 (GRCm39)	I844T	probably damaging	Het
V1ra8	A	T	6: 90,179,916 (GRCm39)	I40F	probably benign	Het
Vmn2r88	T	A	14: 51,650,530 (GRCm39)	M81K	possibly damaging	Het
Vps8	T	C	16: 21,393,763 (GRCm39)	I1182T	probably damaging	Het
Wdr54	A	G	6: 83,130,591 (GRCm39)	V181A	probably benign	Het
Zbed4	A	G	15: 88,665,990 (GRCm39)	Y686C	probably damaging	Het
Zfyve28	T	C	5: 34,393,480 (GRCm39)	N62S	possibly damaging	Het
Zic1	T	C	9: 91,246,424 (GRCm39)	Y216C	probably 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
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
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'- GTTTCATCCCCTCAAGCTGG -3'
(R):5'- GGTGGTACTCCCTCTTCTGAAAC -3'

Sequencing Primer
(F):5'- GTTTCATCCCCTCAAGCTGGAATAAG -3'
(R):5'- GTACTCCCTCTTCTGAAACCCGATAG -3'

Posted On

2021-01-18