Incidental Mutation 'R6978:Amfr'
ID |
542569 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Amfr
|
Ensembl Gene |
ENSMUSG00000031751 |
Gene Name |
autocrine motility factor receptor |
Synonyms |
gp78 |
MMRRC Submission |
045086-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6978 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
94698216-94739301 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94727015 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 140
(E140G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052258
(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: E140G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000052258 Gene: ENSMUSG00000031751 AA Change: E140G
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 |
possibly damaging
Transcript: ENSMUST00000143265
AA Change: E66G
PolyPhen 2
Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000134924 Gene: ENSMUSG00000031751 AA Change: E66G
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 |
0.2882 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
Validation Efficiency |
96% (51/53) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprh |
C |
T |
16: 38,266,171 (GRCm39) |
G324S |
probably damaging |
Het |
Anapc1 |
G |
T |
2: 128,511,820 (GRCm39) |
Q458K |
probably benign |
Het |
Ap1g1 |
T |
C |
8: 110,554,968 (GRCm39) |
|
probably null |
Het |
Arhgap45 |
G |
T |
10: 79,857,682 (GRCm39) |
V211F |
probably benign |
Het |
Baz2b |
T |
C |
2: 59,738,059 (GRCm39) |
E1750G |
possibly damaging |
Het |
Cmpk2 |
A |
T |
12: 26,527,018 (GRCm39) |
T336S |
probably damaging |
Het |
Col6a3 |
C |
T |
1: 90,735,192 (GRCm39) |
|
probably null |
Het |
Cyp2c29 |
T |
C |
19: 39,310,107 (GRCm39) |
L272P |
probably damaging |
Het |
Cyp3a13 |
A |
T |
5: 137,903,801 (GRCm39) |
S286T |
probably benign |
Het |
Cyp4f18 |
T |
G |
8: 72,756,340 (GRCm39) |
S79R |
probably benign |
Het |
Dio1 |
T |
C |
4: 107,164,030 (GRCm39) |
T96A |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,701,526 (GRCm39) |
I210V |
probably null |
Het |
Epha4 |
A |
G |
1: 77,354,220 (GRCm39) |
Y841H |
probably damaging |
Het |
Gm12695 |
T |
C |
4: 96,657,959 (GRCm39) |
D70G |
possibly damaging |
Het |
Gtf3c1 |
G |
T |
7: 125,244,706 (GRCm39) |
T1680K |
possibly damaging |
Het |
Hnrnpul2 |
T |
C |
19: 8,801,640 (GRCm39) |
V314A |
probably damaging |
Het |
Irx3 |
G |
T |
8: 92,527,356 (GRCm39) |
P116Q |
probably damaging |
Het |
Lrp4 |
C |
T |
2: 91,322,343 (GRCm39) |
R1060C |
probably damaging |
Het |
Mark3 |
G |
A |
12: 111,593,582 (GRCm39) |
V205I |
probably benign |
Het |
Mchr1 |
T |
C |
15: 81,121,997 (GRCm39) |
L249P |
possibly damaging |
Het |
Med26 |
T |
C |
8: 73,250,427 (GRCm39) |
N224S |
possibly damaging |
Het |
Megf9 |
C |
T |
4: 70,351,766 (GRCm39) |
V452I |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,303,691 (GRCm39) |
R726G |
probably benign |
Het |
Mst1r |
T |
A |
9: 107,789,793 (GRCm39) |
L583Q |
probably benign |
Het |
Mybpc1 |
A |
G |
10: 88,358,886 (GRCm39) |
C1102R |
probably damaging |
Het |
Nr6a1 |
T |
C |
2: 38,762,631 (GRCm39) |
T55A |
probably benign |
Het |
Nup210l |
G |
A |
3: 90,061,873 (GRCm39) |
R684Q |
possibly damaging |
Het |
Or13a24 |
A |
C |
7: 140,154,200 (GRCm39) |
I45L |
probably damaging |
Het |
Or4f7 |
T |
A |
2: 111,644,155 (GRCm39) |
L305F |
probably benign |
Het |
Or6x1 |
C |
T |
9: 40,099,085 (GRCm39) |
R225W |
probably damaging |
Het |
Pgbd1 |
A |
G |
13: 21,607,432 (GRCm39) |
L254P |
probably damaging |
Het |
Pou6f2 |
A |
G |
13: 18,347,063 (GRCm39) |
F10L |
probably damaging |
Het |
Ppfia3 |
T |
A |
7: 44,996,272 (GRCm39) |
T726S |
probably benign |
Het |
Rab21 |
T |
A |
10: 115,134,766 (GRCm39) |
M118L |
possibly damaging |
Het |
Rbm6 |
T |
C |
9: 107,729,774 (GRCm39) |
|
probably null |
Het |
Rmc1 |
T |
C |
18: 12,318,804 (GRCm39) |
Y430H |
probably benign |
Het |
Rpp38 |
A |
G |
2: 3,330,758 (GRCm39) |
L48P |
probably damaging |
Het |
Sart3 |
A |
T |
5: 113,883,807 (GRCm39) |
I735N |
probably damaging |
Het |
Slc44a1 |
T |
A |
4: 53,544,671 (GRCm39) |
Y461N |
probably damaging |
Het |
Smok2b |
A |
T |
17: 13,455,295 (GRCm39) |
*485L |
probably null |
Het |
Speer4a2 |
C |
A |
5: 26,291,454 (GRCm39) |
E117D |
probably damaging |
Het |
Spink8 |
T |
C |
9: 109,649,725 (GRCm39) |
V69A |
probably benign |
Het |
Spred2 |
G |
A |
11: 19,948,254 (GRCm39) |
R83Q |
possibly damaging |
Het |
Tmc1 |
T |
C |
19: 20,781,999 (GRCm39) |
N573S |
probably damaging |
Het |
Tmem275 |
C |
T |
4: 115,755,560 (GRCm39) |
Q120* |
probably null |
Het |
Tox4 |
G |
T |
14: 52,524,694 (GRCm39) |
|
probably null |
Het |
Unc13c |
T |
C |
9: 73,839,259 (GRCm39) |
S531G |
probably benign |
Het |
Vmn2r56 |
C |
T |
7: 12,449,333 (GRCm39) |
V302I |
probably benign |
Het |
Ypel1 |
C |
T |
16: 16,902,438 (GRCm39) |
A110V |
probably benign |
Het |
Zfp395 |
G |
A |
14: 65,623,882 (GRCm39) |
R117H |
probably benign |
Het |
Zic5 |
T |
C |
14: 122,696,960 (GRCm39) |
T552A |
unknown |
Het |
Zic5 |
CGACGAGTAG |
C |
14: 122,696,967 (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 |
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'- GAAAACAGGCATCTTACCACTG -3'
(R):5'- AGAGTGCTCTGTAACCTTGC -3'
Sequencing Primer
(F):5'- ATCTTACCACTGCAGGCG -3'
(R):5'- AGAGTGCTCTGTAACCTTGCTTTTG -3'
|
Posted On |
2018-11-28 |