Mutagenetix > Incidental Mutation

Incidental Mutation 'R1613:Amfr'

176940

Institutional Source

Beutler Lab

Gene Symbol

Amfr

Ensembl Gene

ENSMUSG00000031751

Gene Name

autocrine motility factor receptor

Synonyms

gp78

MMRRC Submission

039650-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1613 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94698216-94739301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94725854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 176 (M176L)

Ref Sequence

ENSEMBL: ENSMUSP00000052258 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053766
AA Change: M176L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000052258
Gene: ENSMUSG00000031751
AA Change: M176L

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
AA Change: M102L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134924
Gene: ENSMUSG00000031751
AA Change: M102L

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

Meta Mutation Damage Score

0.0902

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

82% (69/84)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Aldh3a1	A	T	11: 61,105,377 (GRCm39)	D161V	probably damaging	Het
Aloxe3	A	G	11: 69,020,872 (GRCm39)	D199G	possibly damaging	Het
Amigo1	A	T	3: 108,095,536 (GRCm39)	E345V	probably benign	Het
Atp13a3	T	C	16: 30,151,118 (GRCm39)	Y1064C	probably damaging	Het
Brd7	A	T	8: 89,073,578 (GRCm39)	C271S	probably benign	Het
Bub1b	T	A	2: 118,470,222 (GRCm39)		probably null	Het
Ccdc146	T	A	5: 21,499,522 (GRCm39)	I887F	probably damaging	Het
Ceacam14	T	C	7: 17,547,973 (GRCm39)		probably benign	Het
Cntn1	T	A	15: 92,143,871 (GRCm39)	V278E	possibly damaging	Het
Col6a6	A	C	9: 105,609,410 (GRCm39)		probably null	Het
Cspp1	C	T	1: 10,203,466 (GRCm39)	R1016C	probably damaging	Het
Cyp2c39	A	G	19: 39,527,455 (GRCm39)	Y267C	probably damaging	Het
Cyp2c67	C	T	19: 39,614,643 (GRCm39)	V295I	probably benign	Het
Cyp2d40	T	C	15: 82,645,640 (GRCm39)	T122A	unknown	Het
Dennd10	T	A	19: 60,810,763 (GRCm39)	V171D	possibly damaging	Het
Dmxl2	A	G	9: 54,289,311 (GRCm39)	I2541T	probably benign	Het
Eif3e	G	A	15: 43,113,620 (GRCm39)	A438V	possibly damaging	Het
Fam178b	C	A	1: 36,639,273 (GRCm39)	W342L	probably benign	Het
Fam78a	G	T	2: 31,959,581 (GRCm39)	N176K	probably damaging	Het
Ghrhr	A	T	6: 55,356,682 (GRCm39)	K93M	probably damaging	Het
Gm1527	T	A	3: 28,953,002 (GRCm39)		probably null	Het
Gm1553	G	A	10: 82,328,430 (GRCm39)		probably benign	Het
Gm5885	G	A	6: 133,508,205 (GRCm39)		noncoding transcript	Het
Gm8674	G	A	13: 50,056,474 (GRCm39)		noncoding transcript	Het
Hoxc6	C	T	15: 102,918,017 (GRCm39)		probably benign	Het
Ino80	T	C	2: 119,223,348 (GRCm39)	T1189A	probably damaging	Het
Iqgap1	T	C	7: 80,418,205 (GRCm39)	E55G	probably damaging	Het
Kcnh2	G	A	5: 24,527,760 (GRCm39)		probably benign	Het
Lama1	G	A	17: 68,114,918 (GRCm39)	G2356S	probably benign	Het
Mdfic	T	A	6: 15,799,589 (GRCm39)		probably null	Het
Me3	T	C	7: 89,435,628 (GRCm39)		probably benign	Het
Mmadhc	T	C	2: 50,170,338 (GRCm39)	D258G	probably damaging	Het
Nfe2	T	C	15: 103,157,556 (GRCm39)	D145G	probably damaging	Het
Nkapd1	T	C	9: 50,519,105 (GRCm39)	K169R	probably damaging	Het
Or10j3b	C	T	1: 173,043,434 (GRCm39)	T72I	probably benign	Het
Or1ad1	T	A	11: 50,876,045 (GRCm39)	N172K	probably damaging	Het
Or1j20	A	C	2: 36,760,405 (GRCm39)	I276L	possibly damaging	Het
Or2y1e	A	G	11: 49,218,520 (GRCm39)	Y94C	probably damaging	Het
Or4a67	T	C	2: 88,598,149 (GRCm39)	N170S	probably damaging	Het
Or4k1	A	C	14: 50,377,751 (GRCm39)	L115R	probably damaging	Het
Or5al5	A	T	2: 85,961,407 (GRCm39)	L200Q	probably damaging	Het
P4ha3	A	T	7: 99,962,457 (GRCm39)	D405V	possibly damaging	Het
Palmd	T	C	3: 116,717,153 (GRCm39)	D448G	probably damaging	Het
Pclo	T	C	5: 14,729,146 (GRCm39)		probably benign	Het
Pcsk6	A	G	7: 65,560,059 (GRCm39)		probably benign	Het
Pidd1	T	C	7: 141,020,690 (GRCm39)	E469G	probably damaging	Het
Ptpn13	A	G	5: 103,684,737 (GRCm39)	D875G	possibly damaging	Het
Rasgrf2	A	G	13: 92,050,740 (GRCm39)	L886P	probably damaging	Het
Scrib	G	A	15: 75,920,391 (GRCm39)	R1454C	probably damaging	Het
Slc24a1	A	G	9: 64,855,978 (GRCm39)	S310P	unknown	Het
Slc44a5	A	G	3: 153,963,351 (GRCm39)		probably null	Het
Snx4	T	G	16: 33,106,416 (GRCm39)	M283R	probably damaging	Het
Snx7	A	T	3: 117,623,222 (GRCm39)		probably benign	Het
Stk19	A	T	17: 35,043,574 (GRCm39)	L212H	probably damaging	Het
Sult2a4	T	C	7: 13,723,420 (GRCm39)	K32E	probably damaging	Het
Tfrc	T	A	16: 32,442,193 (GRCm39)	Y473N	probably damaging	Het
Tlr2	C	G	3: 83,744,660 (GRCm39)	L474F	probably damaging	Het
Tnfrsf4	T	A	4: 156,100,619 (GRCm39)	F213I	probably benign	Het
Trim9	A	T	12: 70,295,169 (GRCm39)	I651N	probably damaging	Het
Vmn1r84	T	A	7: 12,096,460 (GRCm39)	I78L	possibly damaging	Het
Vmn2r77	T	C	7: 86,460,356 (GRCm39)	Y561H	probably damaging	Het
Vmn2r95	A	G	17: 18,660,901 (GRCm39)		probably benign	Het
Zfp11	T	C	5: 129,735,431 (GRCm39)	N10S	probably benign	Het
Zfp81	A	T	17: 33,553,757 (GRCm39)	H352Q	probably damaging	Het
Zscan5b	T	A	7: 6,233,374 (GRCm39)	L66Q	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTAATCAGAGACAGCCTGTGCCTG -3'
(R):5'- CATTATGAGTGGGACTTCCGCACC -3'

Sequencing Primer
(F):5'- GTGCCTGGCACCTTACC -3'
(R):5'- GCCTCCAAGTGAATTCTGCAAG -3'

Posted On

2014-04-24