Incidental Mutation 'R6955:Amfr'
ID 541414
Institutional Source Beutler Lab
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 # R6955 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 94698216-94739301 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94727004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 70 (W70R)
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: W144R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052258
Gene: ENSMUSG00000031751
AA Change: W144R

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: W70R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134924
Gene: ENSMUSG00000031751
AA Change: W70R

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 44 61 N/A INTRINSIC
transmembrane domain 68 87 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,244,307 (GRCm39) F2057I probably benign Het
Abl2 A G 1: 156,450,219 (GRCm39) T108A probably damaging Het
Cacna1h T C 17: 25,607,030 (GRCm39) T963A probably damaging Het
Cdca2 A G 14: 67,952,453 (GRCm39) M1T probably null Het
Chd2 A G 7: 73,125,171 (GRCm39) V62A probably damaging Het
Cpeb4 T A 11: 31,858,864 (GRCm39) L87Q possibly damaging Het
Ddx17 T C 15: 79,414,668 (GRCm39) M500V probably benign Het
Emilin1 T C 5: 31,075,253 (GRCm39) L498P probably damaging Het
Fhod1 C T 8: 106,059,639 (GRCm39) C682Y probably benign Het
Fshr A T 17: 89,292,894 (GRCm39) S595T probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Inf2 T C 12: 112,577,165 (GRCm39) V1003A unknown Het
Itpr3 A G 17: 27,340,441 (GRCm39) E2651G probably damaging Het
Kalrn A G 16: 34,040,506 (GRCm39) W735R probably damaging Het
Kif5b T C 18: 6,211,070 (GRCm39) N798S probably benign Het
Klb T A 5: 65,536,431 (GRCm39) L587* probably null Het
Krt82 T A 15: 101,451,284 (GRCm39) D375V probably damaging Het
Lig4 A T 8: 10,023,384 (GRCm39) V132D probably damaging Het
Lrpprc T C 17: 85,084,417 (GRCm39) I99V probably damaging Het
Ly75 T C 2: 60,158,217 (GRCm39) I1023V possibly damaging Het
Mcam T A 9: 44,050,566 (GRCm39) I286N probably damaging Het
Myh15 G T 16: 48,901,598 (GRCm39) probably null Het
Nup210 T C 6: 91,064,909 (GRCm39) E197G probably damaging Het
Nup93 T A 8: 95,036,301 (GRCm39) Y702N probably damaging Het
Or4p4 T A 2: 88,483,348 (GRCm39) I284N probably damaging Het
Osbpl8 T C 10: 111,105,305 (GRCm39) probably null Het
Pdzd2 A G 15: 12,401,550 (GRCm39) S767P probably damaging Het
Plcd1 A T 9: 118,900,924 (GRCm39) N765K probably benign Het
Poglut2 A T 1: 44,156,257 (GRCm39) L110Q probably damaging Het
Rnf208 T C 2: 25,133,414 (GRCm39) V36A probably benign Het
Rpl5 G A 5: 108,049,912 (GRCm39) R33Q probably benign Het
Selp A T 1: 163,972,478 (GRCm39) I706F possibly damaging Het
Sfmbt1 A G 14: 30,487,991 (GRCm39) probably benign Het
Slc25a39 T C 11: 102,294,344 (GRCm39) I328V probably benign Het
Smc4 G A 3: 68,931,642 (GRCm39) E604K possibly damaging Het
Sorcs3 A G 19: 48,737,782 (GRCm39) Y733C possibly damaging Het
Ttll5 T C 12: 85,911,353 (GRCm39) V237A possibly damaging Het
Uimc1 T A 13: 55,188,359 (GRCm39) R567W possibly damaging Het
Wbp4 A T 14: 79,709,800 (GRCm39) I145N probably benign Het
Xbp1 A G 11: 5,472,018 (GRCm39) E32G probably null 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
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
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'- TGGAAAACAGGCATCTTACCACTG -3'
(R):5'- AGAGTGCTCTGTAACCTTGC -3'

Sequencing Primer
(F):5'- ATCTTACCACTGCAGGCG -3'
(R):5'- AGAGTGCTCTGTAACCTTGCTTTTG -3'
Posted On 2018-11-28