Incidental Mutation 'IGL02093:Arv1'
ID279515
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arv1
Ensembl Gene ENSMUSG00000031982
Gene NameARV1 homolog, fatty acid homeostasis modulator
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02093
Quality Score
Status
Chromosome8
Chromosomal Location124722139-124734123 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 124730878 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Methionine at position 56 (L56M)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034463] [ENSMUST00000212036]
Predicted Effect probably damaging
Transcript: ENSMUST00000034463
AA Change: L174M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034463
Gene: ENSMUSG00000031982
AA Change: L174M

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:Arv1 28 218 8.4e-68 PFAM
transmembrane domain 228 247 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212036
Predicted Effect probably damaging
Transcript: ENSMUST00000212959
AA Change: L56M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous KO causes female infertility, reduction in body weight, amount of white adipose tissue and plasma lipid levels and increase in adiponectin levels, food consumption, energy expenditure and activity levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 T A 1: 173,332,829 Y41F probably benign Het
Amigo1 T C 3: 108,187,898 Y238H probably benign Het
Ankrd17 A G 5: 90,242,963 S2283P possibly damaging Het
Apobec4 A G 1: 152,756,368 H49R possibly damaging Het
Arhgap44 T C 11: 65,074,534 K34R probably damaging Het
Arsg A G 11: 109,525,446 Y173C possibly damaging Het
B3glct A T 5: 149,732,685 R194S probably benign Het
Ccdc39 T A 3: 33,832,568 Y297F probably benign Het
Dnah8 A G 17: 30,717,880 E1552G probably damaging Het
Dnajb9 T C 12: 44,207,204 H140R probably damaging Het
Dock5 T G 14: 67,839,543 probably benign Het
Egr2 G A 10: 67,540,024 G92D probably damaging Het
Evi2a G A 11: 79,527,664 S40L probably benign Het
Fshr A G 17: 89,001,889 probably null Het
Glce G A 9: 62,070,539 T21I probably damaging Het
Gucy2d C A 7: 98,443,548 S44* probably null Het
Heatr5a T C 12: 51,916,075 E1014G possibly damaging Het
Hnrnpll A T 17: 80,044,504 H337Q probably benign Het
Jhy G T 9: 40,944,867 probably null Het
Kat5 A T 19: 5,603,875 M427K probably benign Het
Lama5 G A 2: 180,188,587 P1876S probably damaging Het
Lamc3 C A 2: 31,887,655 H104Q probably damaging Het
Lcn5 T C 2: 25,658,450 Y84H probably damaging Het
Mageb18 T A X: 92,120,266 K123N probably damaging Het
Mfhas1 T A 8: 35,589,344 N324K probably damaging Het
Nagk T C 6: 83,799,370 F189S probably damaging Het
Nbas T A 12: 13,560,962 M2218K probably benign Het
Nuak2 C A 1: 132,332,112 P543T probably benign Het
Olfr1323 C T X: 50,009,828 M136I possibly damaging Het
Olfr699 C T 7: 106,790,823 M59I probably benign Het
Prl8a9 T C 13: 27,559,453 Y123C probably damaging Het
Rapgef5 T C 12: 117,719,132 F220S probably damaging Het
Rexo4 T C 2: 26,962,518 D135G probably benign Het
Slc39a10 C T 1: 46,835,209 R311Q probably damaging Het
Slfn10-ps A T 11: 83,032,190 noncoding transcript Het
Tfrc A G 16: 32,630,194 E717G probably benign Het
Tg T A 15: 66,692,374 N1141K possibly damaging Het
Topors T C 4: 40,261,467 S606G probably damaging Het
Usp11 A G X: 20,719,352 D827G probably benign Het
Vmn2r1 A T 3: 64,104,709 M664L probably benign Het
Vmn2r14 A T 5: 109,220,409 M239K possibly damaging Het
Xiap T C X: 42,099,827 probably benign Het
Zfp2 G A 11: 50,901,004 P71S probably benign Het
Zhx1 T A 15: 58,052,868 T661S probably benign Het
Other mutations in Arv1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1054:Arv1 UTSW 8 124731872 missense probably benign
R1725:Arv1 UTSW 8 124728452 missense probably damaging 1.00
R2171:Arv1 UTSW 8 124728355 missense probably damaging 1.00
R6876:Arv1 UTSW 8 124730912 missense probably damaging 1.00
R8298:Arv1 UTSW 8 124728372 missense probably damaging 1.00
Posted On2015-04-16