Incidental Mutation 'R3109:Amfr'
ID 263704
Institutional Source Beutler Lab
Gene Symbol Amfr
Ensembl Gene ENSMUSG00000031751
Gene Name autocrine motility factor receptor
Synonyms gp78
MMRRC Submission 040583-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3109 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 94698216-94739301 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94726934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 93 (Y93C)
Ref Sequence ENSEMBL: ENSMUSP00000134924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053766] [ENSMUST00000143265]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000053766
AA Change: Y167C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052258
Gene: ENSMUSG00000031751
AA Change: Y167C

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
Predicted Effect probably damaging
Transcript: ENSMUST00000143265
AA Change: Y93C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134924
Gene: ENSMUSG00000031751
AA Change: Y93C

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 44 61 N/A INTRINSIC
transmembrane domain 68 87 N/A INTRINSIC
Meta Mutation Damage Score 0.6550 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (33/33)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
Adamts20 T C 15: 94,243,785 (GRCm39) probably benign Het
Alkbh3 T C 2: 93,835,108 (GRCm39) E80G probably damaging Het
Arid2 T C 15: 96,254,627 (GRCm39) Y158H probably damaging Het
Camk1g T C 1: 193,037,301 (GRCm39) Y133C probably damaging Het
Cnnm1 T C 19: 43,430,000 (GRCm39) C373R probably damaging Het
Cnot1 A G 8: 96,462,377 (GRCm39) V1691A probably damaging Het
Cubn T C 2: 13,367,158 (GRCm39) S1571G possibly damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dennd1b G A 1: 138,969,654 (GRCm39) probably benign Het
Dmrt2 C A 19: 25,655,055 (GRCm39) T218N probably benign Het
Drd4 T A 7: 140,872,195 (GRCm39) V82E possibly damaging Het
Fat1 G A 8: 45,498,210 (GRCm39) probably null Het
Fyn G C 10: 39,427,451 (GRCm39) D445H probably damaging Het
Igfn1 T C 1: 135,925,586 (GRCm39) D56G probably benign Het
Igkv11-125 T C 6: 67,890,855 (GRCm39) F58L possibly damaging Het
Klhdc4 A C 8: 122,548,073 (GRCm39) H72Q probably damaging Het
Kmt2c A G 5: 25,480,733 (GRCm39) Y1459H probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Muc5b C T 7: 141,412,496 (GRCm39) T1814M unknown Het
Ntrk3 C T 7: 78,110,263 (GRCm39) V324M probably benign Het
Or52s1b T A 7: 102,822,293 (GRCm39) M184L probably damaging Het
Per2 A T 1: 91,373,297 (GRCm39) C164S probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Rbl2 T A 8: 91,828,863 (GRCm39) I588N probably benign Het
Rslcan18 C T 13: 67,246,671 (GRCm39) E314K possibly damaging Het
Ubr3 A T 2: 69,819,184 (GRCm39) T1325S probably damaging Het
Unc45a A G 7: 79,981,294 (GRCm39) probably benign Het
Vmn1r175 A G 7: 23,508,393 (GRCm39) V78A probably benign Het
Other mutations in Amfr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Amfr APN 8 94,714,136 (GRCm39) critical splice acceptor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- CCAAGGCTAGGAGTGGCTATAG -3'
(R):5'- TTGGTATGCTGCGACTCAC -3'

Sequencing Primer
(F):5'- CTAGGAGTGGCTATAGGGCTTG -3'
(R):5'- GTATGCTGCGACTCACCTTTACAAAC -3'
Posted On 2015-02-05