Incidental Mutation 'IGL02169:Amfr'
ID |
282842 |
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 # |
IGL02169
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
94698216-94739301 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 94731858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134924
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053766]
[ENSMUST00000143265]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
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 null
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 |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,843,408 (GRCm39) |
I1001F |
probably damaging |
Het |
Apol7c |
T |
G |
15: 77,410,616 (GRCm39) |
D110A |
possibly damaging |
Het |
Bcr |
A |
G |
10: 74,995,714 (GRCm39) |
N899S |
probably benign |
Het |
Ccnt2 |
T |
A |
1: 127,702,126 (GRCm39) |
|
probably benign |
Het |
Clptm1l |
G |
A |
13: 73,759,782 (GRCm39) |
V281I |
probably damaging |
Het |
Ctsr |
A |
G |
13: 61,311,054 (GRCm39) |
|
probably benign |
Het |
Dbh |
G |
A |
2: 27,064,910 (GRCm39) |
V374M |
probably damaging |
Het |
Eif3b |
A |
G |
5: 140,415,836 (GRCm39) |
D385G |
possibly damaging |
Het |
F830045P16Rik |
A |
G |
2: 129,305,492 (GRCm39) |
V294A |
probably damaging |
Het |
Foxj2 |
A |
G |
6: 122,805,425 (GRCm39) |
N99S |
probably damaging |
Het |
Gabrr1 |
T |
G |
4: 33,160,261 (GRCm39) |
V315G |
probably damaging |
Het |
Gm21988 |
T |
C |
11: 70,129,764 (GRCm39) |
E25G |
probably benign |
Het |
Islr |
A |
T |
9: 58,065,415 (GRCm39) |
F31I |
possibly damaging |
Het |
L2hgdh |
A |
T |
12: 69,768,171 (GRCm39) |
L109Q |
probably damaging |
Het |
Lrp6 |
A |
G |
6: 134,490,290 (GRCm39) |
I96T |
probably damaging |
Het |
Nup93 |
A |
G |
8: 95,028,757 (GRCm39) |
D330G |
probably damaging |
Het |
Or2ag19 |
T |
A |
7: 106,444,473 (GRCm39) |
Y218* |
probably null |
Het |
Or8k33 |
T |
C |
2: 86,384,226 (GRCm39) |
M81V |
probably benign |
Het |
Phtf1 |
C |
A |
3: 103,904,815 (GRCm39) |
L488I |
probably benign |
Het |
Plac8l1 |
T |
C |
18: 42,312,008 (GRCm39) |
D137G |
probably damaging |
Het |
Pth1r |
G |
A |
9: 110,553,503 (GRCm39) |
T392I |
probably damaging |
Het |
Rab43 |
A |
G |
6: 87,788,406 (GRCm39) |
F41L |
probably damaging |
Het |
Ralgapb |
C |
T |
2: 158,268,124 (GRCm39) |
L76F |
probably damaging |
Het |
Ros1 |
A |
G |
10: 51,958,053 (GRCm39) |
|
probably null |
Het |
Rpl27a |
T |
C |
7: 109,119,185 (GRCm39) |
I43T |
probably benign |
Het |
Set |
G |
A |
2: 29,959,536 (GRCm39) |
D129N |
possibly damaging |
Het |
Sorbs2 |
A |
T |
8: 46,276,786 (GRCm39) |
Y604F |
probably damaging |
Het |
Tg |
T |
C |
15: 66,629,792 (GRCm39) |
V491A |
probably benign |
Het |
Txlna |
T |
C |
4: 129,523,406 (GRCm39) |
T429A |
probably damaging |
Het |
Vmn1r128 |
C |
T |
7: 21,084,163 (GRCm39) |
P289L |
probably damaging |
Het |
Wfs1 |
A |
G |
5: 37,125,823 (GRCm39) |
F356S |
probably damaging |
Het |
Zfp687 |
G |
A |
3: 94,918,743 (GRCm39) |
T343I |
probably damaging |
Het |
Zfp935 |
A |
G |
13: 62,604,745 (GRCm39) |
|
probably null |
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 |
|
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 |
RF030:Amfr
|
UTSW |
8 |
94,738,920 (GRCm39) |
unclassified |
probably benign |
|
RF035:Amfr
|
UTSW |
8 |
94,738,920 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2015-04-16 |