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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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