Incidental Mutation 'IGL03218:Amfr'
| ID |
413552 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Amfr
|
| Ensembl Gene |
ENSMUSG00000031751 |
| Gene Name |
autocrine motility factor receptor |
| Synonyms |
gp78 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03218
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
94698216-94739301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94726964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 157
(M157K)
|
| 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: M157K
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052258
Gene: ENSMUSG00000031751
AA Change: M157K
| 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: M83K
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134924
Gene: ENSMUSG00000031751
AA Change: M83K
| 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 |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,561,727 (GRCm39) |
|
probably null |
Het |
| Acot9 |
T |
A |
X: 154,078,207 (GRCm39) |
V251E |
possibly damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,648,021 (GRCm39) |
S600P |
possibly damaging |
Het |
| Arvcf |
T |
C |
16: 18,222,875 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,699,949 (GRCm39) |
V1924A |
possibly damaging |
Het |
| Atp10a |
T |
A |
7: 58,438,196 (GRCm39) |
|
probably null |
Het |
| Atp1a2 |
T |
A |
1: 172,116,870 (GRCm39) |
E249V |
probably null |
Het |
| C1qc |
A |
G |
4: 136,617,598 (GRCm39) |
L166P |
probably damaging |
Het |
| Col4a3 |
C |
A |
1: 82,620,927 (GRCm39) |
|
probably benign |
Het |
| Def8 |
A |
G |
8: 124,183,175 (GRCm39) |
D258G |
probably damaging |
Het |
| Dll1 |
T |
C |
17: 15,593,830 (GRCm39) |
D179G |
probably benign |
Het |
| Dnah14 |
C |
A |
1: 181,582,834 (GRCm39) |
H3124Q |
probably benign |
Het |
| Fabp5 |
T |
A |
3: 10,080,023 (GRCm39) |
|
probably benign |
Het |
| Fam133b |
C |
T |
5: 3,604,684 (GRCm39) |
Q24* |
probably null |
Het |
| Fam13c |
A |
C |
10: 70,284,599 (GRCm39) |
D25A |
possibly damaging |
Het |
| Flna |
A |
G |
X: 73,278,208 (GRCm39) |
|
probably null |
Het |
| Frem1 |
T |
A |
4: 82,832,883 (GRCm39) |
T1917S |
probably benign |
Het |
| Frmd4b |
T |
C |
6: 97,285,075 (GRCm39) |
T337A |
probably benign |
Het |
| Fxyd7 |
C |
T |
7: 30,743,995 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
T |
G |
2: 57,889,401 (GRCm39) |
S334A |
possibly damaging |
Het |
| Gm10220 |
T |
C |
5: 26,323,696 (GRCm39) |
K117R |
probably damaging |
Het |
| Gpd2 |
T |
A |
2: 57,197,066 (GRCm39) |
L207H |
probably damaging |
Het |
| H2-M10.3 |
T |
A |
17: 36,678,279 (GRCm39) |
Y182F |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,115,836 (GRCm39) |
I1018V |
possibly damaging |
Het |
| Letmd1 |
T |
C |
15: 100,367,709 (GRCm39) |
F89S |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,318,567 (GRCm39) |
Y696C |
probably damaging |
Het |
| Mcpt9 |
A |
G |
14: 56,264,908 (GRCm39) |
Y198H |
probably damaging |
Het |
| Mmp1b |
A |
G |
9: 7,387,907 (GRCm39) |
V29A |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,391,311 (GRCm39) |
D940G |
possibly damaging |
Het |
| Myzap |
A |
G |
9: 71,462,871 (GRCm39) |
M225T |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,564,133 (GRCm39) |
Y516C |
probably damaging |
Het |
| Nsdhl |
T |
A |
X: 72,000,052 (GRCm39) |
|
probably benign |
Het |
| Olfml1 |
A |
G |
7: 107,170,476 (GRCm39) |
E121G |
possibly damaging |
Het |
| Or11j4 |
A |
T |
14: 50,631,115 (GRCm39) |
M301L |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,935 (GRCm39) |
V45A |
probably benign |
Het |
| Or8k38 |
A |
G |
2: 86,488,703 (GRCm39) |
I33T |
probably benign |
Het |
| Phex |
C |
T |
X: 155,961,783 (GRCm39) |
G636E |
probably damaging |
Het |
| Pkd2l2 |
A |
T |
18: 34,563,373 (GRCm39) |
I475F |
probably damaging |
Het |
| Polr2b |
T |
A |
5: 77,463,764 (GRCm39) |
S54T |
probably benign |
Het |
| Prkx |
A |
T |
X: 76,829,806 (GRCm39) |
L85Q |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,973,914 (GRCm39) |
I914N |
probably benign |
Het |
| Susd2 |
A |
G |
10: 75,478,459 (GRCm39) |
L39P |
probably benign |
Het |
| Teddm2 |
C |
T |
1: 153,726,770 (GRCm39) |
V35I |
probably benign |
Het |
| Tspo |
T |
A |
15: 83,455,631 (GRCm39) |
V6E |
possibly damaging |
Het |
| Vps41 |
G |
T |
13: 19,013,440 (GRCm39) |
V353F |
possibly damaging |
Het |
| Wfdc18 |
T |
A |
11: 83,600,033 (GRCm39) |
|
probably null |
Het |
| Wsb1 |
C |
T |
11: 79,139,324 (GRCm39) |
S124N |
probably damaging |
Het |
| Zfp445 |
T |
C |
9: 122,686,594 (GRCm39) |
E177G |
probably benign |
Het |
| Zfp759 |
G |
T |
13: 67,287,480 (GRCm39) |
V344L |
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 |
|
|
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 |
|
RF030:Amfr
|
UTSW |
8 |
94,738,920 (GRCm39) |
unclassified |
probably benign |
|
|
RF035:Amfr
|
UTSW |
8 |
94,738,920 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation