Incidental Mutation 'IGL01629:Amfr'
ID 92881
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Amfr
Ensembl Gene ENSMUSG00000031751
Gene Name autocrine motility factor receptor
Synonyms gp78
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01629
Quality Score
Status
Chromosome 8
Chromosomal Location 94698216-94739301 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 94714136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000052258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053766]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000053766
SMART Domains Protein: ENSMUSP00000052258
Gene: ENSMUSG00000031751

DomainStartEndE-ValueType
transmembrane domain 78 97 N/A INTRINSIC
transmembrane domain 118 137 N/A INTRINSIC
transmembrane domain 141 158 N/A INTRINSIC
transmembrane domain 183 205 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
RING 337 374 1.14e-8 SMART
CUE 452 493 3.3e-11 SMART
PDB:4LAD|B 571 596 2e-7 PDB
low complexity region 620 637 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice for a gene-trapped null allele are obese and develop liver steatosis and/or hepatic inflammation resembling nonalcoholic steatohepatitis. Some mice develop liver tumors. Mice homozygous for another knock-out allele exhibit normal HMGCR turnover in mouse embryonic fibroblasts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Adm2 T A 15: 89,207,605 (GRCm39) probably null Het
Alox12 G A 11: 70,133,660 (GRCm39) P555S probably damaging Het
Alpk2 A G 18: 65,433,113 (GRCm39) S1798P probably damaging Het
Arhgef18 T A 8: 3,431,942 (GRCm39) C168S possibly damaging Het
Atxn7l3 A T 11: 102,183,320 (GRCm39) probably benign Het
Ccdc191 A G 16: 43,779,663 (GRCm39) K707E possibly damaging Het
Cdc5l G T 17: 45,724,116 (GRCm39) D391E probably benign Het
Cmtm2b T C 8: 105,056,420 (GRCm39) S110P possibly damaging Het
Cyp2j8 T C 4: 96,387,840 (GRCm39) D207G probably damaging Het
Ddhd2 A G 8: 26,225,855 (GRCm39) F501L possibly damaging Het
Dnaaf6rt T A 1: 31,262,014 (GRCm39) probably null Het
Dnah1 C T 14: 31,014,277 (GRCm39) V1823M probably damaging Het
Gjb4 T C 4: 127,245,419 (GRCm39) D174G possibly damaging Het
Gm45213 A G 7: 65,711,962 (GRCm39) D58G probably damaging Het
Hes1 C T 16: 29,884,976 (GRCm39) probably benign Het
Krt33b T A 11: 99,920,386 (GRCm39) Q89L probably benign Het
Llcfc1 C A 6: 41,661,459 (GRCm39) S3Y possibly damaging Het
Ltf A G 9: 110,864,874 (GRCm39) N569S probably damaging Het
Mknk1 T A 4: 115,732,731 (GRCm39) W320R probably damaging Het
Mrgprx3-ps T A 7: 46,959,353 (GRCm39) K213* probably null Het
Mslnl T G 17: 25,963,749 (GRCm39) V388G possibly damaging Het
Nfkb1 T C 3: 135,307,228 (GRCm39) I566V probably benign Het
Npy1r G A 8: 67,156,873 (GRCm39) V98I probably benign Het
Phf1 G T 17: 27,153,247 (GRCm39) A22S probably benign Het
Plcg1 T G 2: 160,599,930 (GRCm39) F897V possibly damaging Het
Ric1 A T 19: 29,581,381 (GRCm39) E1367D probably benign Het
Slc24a3 T C 2: 145,482,130 (GRCm39) probably benign Het
Sorl1 A G 9: 41,968,565 (GRCm39) probably null Het
Speer4a2 C T 5: 26,290,700 (GRCm39) S157N probably damaging Het
Spink5 T C 18: 44,129,677 (GRCm39) probably benign Het
Syne2 A G 12: 76,051,377 (GRCm39) I4036V possibly damaging Het
Taok1 A T 11: 77,429,030 (GRCm39) M890K possibly damaging Het
Tenm2 A T 11: 36,755,711 (GRCm39) Y96N probably damaging Het
Ttll10 T A 4: 156,131,351 (GRCm39) T233S probably benign Het
Vps39 G T 2: 120,154,079 (GRCm39) L628M probably benign Het
Zfp563 G A 17: 33,323,600 (GRCm39) R105H probably damaging Het
Other mutations in Amfr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02169:Amfr APN 8 94,731,858 (GRCm39) splice site probably null
IGL03218:Amfr APN 8 94,726,964 (GRCm39) missense probably damaging 0.97
FR4449:Amfr UTSW 8 94,731,787 (GRCm39) missense probably damaging 1.00
FR4737:Amfr UTSW 8 94,731,787 (GRCm39) missense probably damaging 1.00
FR4976:Amfr UTSW 8 94,738,920 (GRCm39) unclassified probably benign
R0344:Amfr UTSW 8 94,713,998 (GRCm39) splice site probably null
R0532:Amfr UTSW 8 94,725,736 (GRCm39) missense probably damaging 1.00
R1056:Amfr UTSW 8 94,712,097 (GRCm39) missense probably benign 0.27
R1295:Amfr UTSW 8 94,701,432 (GRCm39) missense probably benign 0.26
R1386:Amfr UTSW 8 94,712,027 (GRCm39) missense possibly damaging 0.58
R1450:Amfr UTSW 8 94,714,375 (GRCm39) missense probably benign 0.45
R1613:Amfr UTSW 8 94,725,854 (GRCm39) missense probably benign 0.00
R1703:Amfr UTSW 8 94,700,871 (GRCm39) missense probably benign
R2857:Amfr UTSW 8 94,731,842 (GRCm39) missense probably damaging 1.00
R2858:Amfr UTSW 8 94,731,842 (GRCm39) missense probably damaging 1.00
R2859:Amfr UTSW 8 94,731,842 (GRCm39) missense probably damaging 1.00
R3109:Amfr UTSW 8 94,726,934 (GRCm39) missense probably damaging 1.00
R3708:Amfr UTSW 8 94,709,948 (GRCm39) missense probably benign 0.05
R4456:Amfr UTSW 8 94,711,568 (GRCm39) missense possibly damaging 0.80
R4600:Amfr UTSW 8 94,700,849 (GRCm39) missense probably damaging 0.99
R4952:Amfr UTSW 8 94,699,787 (GRCm39) unclassified probably benign
R5261:Amfr UTSW 8 94,702,798 (GRCm39) critical splice acceptor site probably null
R5391:Amfr UTSW 8 94,702,676 (GRCm39) missense probably damaging 1.00
R5788:Amfr UTSW 8 94,726,942 (GRCm39) missense probably damaging 1.00
R6238:Amfr UTSW 8 94,726,992 (GRCm39) missense probably damaging 1.00
R6584:Amfr UTSW 8 94,700,783 (GRCm39) missense probably benign 0.00
R6795:Amfr UTSW 8 94,726,961 (GRCm39) missense probably benign 0.09
R6955:Amfr UTSW 8 94,727,004 (GRCm39) missense probably damaging 1.00
R6978:Amfr UTSW 8 94,727,015 (GRCm39) missense probably damaging 0.99
R7097:Amfr UTSW 8 94,738,637 (GRCm39) missense probably benign 0.00
R7224:Amfr UTSW 8 94,711,484 (GRCm39) missense probably damaging 1.00
R7260:Amfr UTSW 8 94,702,776 (GRCm39) missense possibly damaging 0.80
R7289:Amfr UTSW 8 94,725,754 (GRCm39) missense possibly damaging 0.64
R8341:Amfr UTSW 8 94,725,806 (GRCm39) missense probably damaging 0.98
R8858:Amfr UTSW 8 94,714,070 (GRCm39) missense probably damaging 1.00
R9377:Amfr UTSW 8 94,707,018 (GRCm39) missense probably damaging 1.00
RF030:Amfr UTSW 8 94,738,920 (GRCm39) unclassified probably benign
RF035:Amfr UTSW 8 94,738,920 (GRCm39) unclassified probably benign
Posted On 2013-12-09