Mutagenetix > Incidental Mutation

Incidental Mutation 'RF030:Amfr'

604321

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 #

RF030 (G1)

Quality Score

217.8

Status

Not validated

Chromosome

Chromosomal Location

94698216-94739301 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

GCC to GCCGGCGCGAGCTCC at 94738920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034204] [ENSMUST00000053766] [ENSMUST00000143265]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034204

SMART Domains

Protein: ENSMUSP00000034204
Gene: ENSMUSG00000031754

Domain	Start	End	E-Value	Type
Pfam:NUDIX_2	35	222	9.9e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053766

SMART Domains

Protein: ENSMUSP00000052258
Gene: ENSMUSG00000031751

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000143265

SMART Domains

Protein: ENSMUSP00000134924
Gene: ENSMUSG00000031751

Domain	Start	End	E-Value	Type
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: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	GGC	GGCTGC	19: 5,475,254 (GRCm39)		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,475,263 (GRCm39)		probably benign	Het
Ankhd1	GCGGCG	GCGGCGCCGGCG	18: 36,693,966 (GRCm39)		probably benign	Het
Ankhd1	GGCGGCAGC	GGCGGCAGCGGCAGC	18: 36,693,980 (GRCm39)		probably benign	Het
AY761185	GGGCACTGTGG	GGG	8: 21,433,916 (GRCm39)		probably null	Het
B430218F22Rik	GG	GGTCGGCG	13: 118,523,384 (GRCm39)		probably benign	Het
Calhm1	CTGTGGCTGTGGCTGTGGCTGTGG	CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG	19: 47,129,692 (GRCm39)		probably benign	Het
Cox7a2l	GGA	GGATAGGGA	17: 83,810,151 (GRCm39)		probably benign	Het
Cul9	CCTC	CCTCCTC	17: 46,811,795 (GRCm39)		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,462 (GRCm39)		probably benign	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC	9: 86,922,468 (GRCm39)		probably benign	Het
Dmkn	GTG	GTGTTGGAAGTGGTGGAAGTGGTGGAAATG	7: 30,466,607 (GRCm39)		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eed	C	A	7: 89,604,240 (GRCm39)	A411S	probably benign	Het
Fer1l4	GGTC	G	2: 155,887,449 (GRCm39)		probably benign	Het
Frem3	GATC	GATCATC	8: 81,341,867 (GRCm39)		probably benign	Het
Gab3	CTTTT	CT	X: 74,043,583 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,632 (GRCm39)		probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,631 (GRCm39)		probably benign	Het
Gab3	TCT	TCTCCT	X: 74,043,614 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,611 (GRCm39)		probably benign	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,325,037 (GRCm39)		probably null	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,755,850 (GRCm39)		probably null	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,646,090 (GRCm39)		probably benign	Het
Gucy2d	C	CTGGGGCCTG	7: 98,108,241 (GRCm39)		probably benign	Het
Hsdl2	CCACAGCTGCAG	CCACAGCTGCAGCAGCAGACACAGCTGCAG	4: 59,610,647 (GRCm39)		probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,179,991 (GRCm39)		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,179,976 (GRCm39)		probably benign	Het
Irag2	ATTG	ATTGAGCACGTTG	6: 145,119,514 (GRCm39)		probably benign	Het
Irag2	TG	TGAGCACATGG	6: 145,119,516 (GRCm39)		probably benign	Het
Kmt2b	CTCCTC	CTCCTCTTCCTC	7: 30,285,802 (GRCm39)		probably benign	Het
Lce1m	C	CGGCTGCTGCCAA	3: 92,925,448 (GRCm39)		probably benign	Het
Lce1m	GCTGCCAC	GCTGCCACAGCAACTTCTGCCAC	3: 92,925,651 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGTAG	X: 70,162,434 (GRCm39)		probably null	Het
Map1a	CAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA	2: 121,136,792 (GRCm39)		probably benign	Het
Map1a	CA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA	2: 121,136,798 (GRCm39)		probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,410 (GRCm39)		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,064,550 (GRCm39)		probably null	Het
Pdik1l	C	CCACCAA	4: 134,006,827 (GRCm39)		probably benign	Het
Pkhd1l1	TTTTTTT	TTTTTTTTTGTTTTTT	15: 44,421,898 (GRCm39)		probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT	10: 84,694,344 (GRCm39)		probably benign	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,473 (GRCm39)		probably benign	Het
Setd1a	GGTGGTAGT	GGTGGTAGTTGTGGTAGT	7: 127,384,483 (GRCm39)		probably benign	Het
Six5	CGGA	C	7: 18,828,725 (GRCm39)		probably benign	Het
Spmap2l	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,164,248 (GRCm39)		probably benign	Het
Tcof1	CTGCTGCTGC	CTGCTGCTGCTGC	18: 60,968,795 (GRCm39)		probably benign	Het
Tcof1	CCAGA	CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA	18: 60,966,640 (GRCm39)		probably benign	Het
Tcof1	ATCCCCTTGGC	ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC	18: 60,966,646 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,038 (GRCm39)		probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,036 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,037 (GRCm39)		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,593,019 (GRCm39)		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,593,046 (GRCm39)		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973 (GRCm39)		probably benign	Het
Trappc9	TGCTGCT	TGCTGCTGCTGCTGCGGCTGCT	15: 72,673,174 (GRCm39)		probably benign	Het
Tsen2	GGA	GGACGA	6: 115,537,028 (GRCm39)		probably benign	Het
Wdr97	AGGAGGAGG	AG	15: 76,247,365 (GRCm39)		probably null	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,013,446 (GRCm39)		probably benign	Het

Other mutations in Amfr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
RF035:Amfr	UTSW	8	94,738,920 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GACACCTTCTCTCCGCGG -3'
(R):5'- AGTCCGCCGAGGCTCTTC -3'

Sequencing Primer
(F):5'- GCGGATAATGGGTGACAT -3'
(R):5'- CGCGAGCAGCTAGGAGC -3'

Posted On

2019-12-04