Incidental Mutation 'IGL02014:Rnf165'
ID183458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf165
Ensembl Gene ENSMUSG00000025427
Gene Namering finger protein 165
SynonymsG630064H08Rik, Ark2c, LOC225743, 2900024M11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.244) question?
Stock #IGL02014
Quality Score
Status
Chromosome18
Chromosomal Location77456110-77565147 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 77468359 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 167 (V167E)
Ref Sequence ENSEMBL: ENSMUSP00000026494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026494] [ENSMUST00000182024]
Predicted Effect probably damaging
Transcript: ENSMUST00000026494
AA Change: V167E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026494
Gene: ENSMUSG00000025427
AA Change: V167E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
RING 102 142 1.4e-8 SMART
Predicted Effect unknown
Transcript: ENSMUST00000182153
AA Change: V149E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182348
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
Ankrd44 C T 1: 54,657,620 G654S possibly damaging Het
Arl14ep C T 2: 106,967,113 A180T probably benign Het
Btbd9 A C 17: 30,517,150 S330A probably damaging Het
Cep78 T C 19: 15,984,738 D48G probably damaging Het
Col4a4 C T 1: 82,523,960 probably benign Het
Ctdsp1 C T 1: 74,394,016 probably benign Het
Gapvd1 G A 2: 34,704,191 P949L probably damaging Het
Gas6 T C 8: 13,468,359 T492A possibly damaging Het
Igbp1b A T 6: 138,657,603 V281D probably benign Het
Mapk8ip3 G A 17: 24,903,280 probably benign Het
Met T C 6: 17,527,257 probably benign Het
Mmachc A G 4: 116,703,710 F196S probably damaging Het
Olfr618 T A 7: 103,597,730 I138N probably damaging Het
Pah A T 10: 87,581,927 T427S probably benign Het
Pcdh7 C A 5: 57,719,703 P200Q probably benign Het
Pde3a C A 6: 141,459,144 P365Q probably null Het
Pkm A G 9: 59,668,961 T143A possibly damaging Het
Plppr4 A G 3: 117,335,573 S82P probably damaging Het
Ryr3 T C 2: 112,946,915 E299G possibly damaging Het
Sdk2 G A 11: 113,838,494 P1086S probably damaging Het
Spats1 G A 17: 45,461,240 R81C probably benign Het
Tbc1d2 T C 4: 46,649,778 N86S possibly damaging Het
Thegl T A 5: 77,047,155 F59I probably damaging Het
Vezt T A 10: 93,996,949 Y10F probably benign Het
Vmn1r174 C A 7: 23,754,158 P83H probably damaging Het
Vmn1r218 C T 13: 23,136,831 T36I probably damaging Het
Zmym4 A T 4: 126,900,669 N889K possibly damaging Het
Other mutations in Rnf165
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01802:Rnf165 APN 18 77462914 missense probably damaging 1.00
IGL03210:Rnf165 APN 18 77466739 missense probably damaging 1.00
R0486:Rnf165 UTSW 18 77484254 missense probably damaging 0.97
R1523:Rnf165 UTSW 18 77462938 missense probably benign 0.17
R1650:Rnf165 UTSW 18 77462417 unclassified probably null
R1853:Rnf165 UTSW 18 77462975 missense possibly damaging 0.68
R3402:Rnf165 UTSW 18 77565086 missense probably benign 0.02
R5039:Rnf165 UTSW 18 77462912 missense probably damaging 1.00
R5415:Rnf165 UTSW 18 77466739 missense probably damaging 1.00
R5875:Rnf165 UTSW 18 77563181 intron probably benign
R6544:Rnf165 UTSW 18 77563235 intron probably benign
X0067:Rnf165 UTSW 18 77462950 missense probably benign 0.00
Posted On2014-05-07