Incidental Mutation 'R6955:Amfr'
ID |
541414 |
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)
|
Stock # |
R6955 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
94698216-94739301 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 94727004 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 70
(W70R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134924
(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: W144R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052258 Gene: ENSMUSG00000031751 AA Change: W144R
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 damaging
Transcript: ENSMUST00000143265
AA Change: W70R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134924 Gene: ENSMUSG00000031751 AA Change: W70R
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,244,307 (GRCm39) |
F2057I |
probably benign |
Het |
Abl2 |
A |
G |
1: 156,450,219 (GRCm39) |
T108A |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,607,030 (GRCm39) |
T963A |
probably damaging |
Het |
Cdca2 |
A |
G |
14: 67,952,453 (GRCm39) |
M1T |
probably null |
Het |
Chd2 |
A |
G |
7: 73,125,171 (GRCm39) |
V62A |
probably damaging |
Het |
Cpeb4 |
T |
A |
11: 31,858,864 (GRCm39) |
L87Q |
possibly damaging |
Het |
Ddx17 |
T |
C |
15: 79,414,668 (GRCm39) |
M500V |
probably benign |
Het |
Emilin1 |
T |
C |
5: 31,075,253 (GRCm39) |
L498P |
probably damaging |
Het |
Fhod1 |
C |
T |
8: 106,059,639 (GRCm39) |
C682Y |
probably benign |
Het |
Fshr |
A |
T |
17: 89,292,894 (GRCm39) |
S595T |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Inf2 |
T |
C |
12: 112,577,165 (GRCm39) |
V1003A |
unknown |
Het |
Itpr3 |
A |
G |
17: 27,340,441 (GRCm39) |
E2651G |
probably damaging |
Het |
Kalrn |
A |
G |
16: 34,040,506 (GRCm39) |
W735R |
probably damaging |
Het |
Kif5b |
T |
C |
18: 6,211,070 (GRCm39) |
N798S |
probably benign |
Het |
Klb |
T |
A |
5: 65,536,431 (GRCm39) |
L587* |
probably null |
Het |
Krt82 |
T |
A |
15: 101,451,284 (GRCm39) |
D375V |
probably damaging |
Het |
Lig4 |
A |
T |
8: 10,023,384 (GRCm39) |
V132D |
probably damaging |
Het |
Lrpprc |
T |
C |
17: 85,084,417 (GRCm39) |
I99V |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
Mcam |
T |
A |
9: 44,050,566 (GRCm39) |
I286N |
probably damaging |
Het |
Myh15 |
G |
T |
16: 48,901,598 (GRCm39) |
|
probably null |
Het |
Nup210 |
T |
C |
6: 91,064,909 (GRCm39) |
E197G |
probably damaging |
Het |
Nup93 |
T |
A |
8: 95,036,301 (GRCm39) |
Y702N |
probably damaging |
Het |
Or4p4 |
T |
A |
2: 88,483,348 (GRCm39) |
I284N |
probably damaging |
Het |
Osbpl8 |
T |
C |
10: 111,105,305 (GRCm39) |
|
probably null |
Het |
Pdzd2 |
A |
G |
15: 12,401,550 (GRCm39) |
S767P |
probably damaging |
Het |
Plcd1 |
A |
T |
9: 118,900,924 (GRCm39) |
N765K |
probably benign |
Het |
Poglut2 |
A |
T |
1: 44,156,257 (GRCm39) |
L110Q |
probably damaging |
Het |
Rnf208 |
T |
C |
2: 25,133,414 (GRCm39) |
V36A |
probably benign |
Het |
Rpl5 |
G |
A |
5: 108,049,912 (GRCm39) |
R33Q |
probably benign |
Het |
Selp |
A |
T |
1: 163,972,478 (GRCm39) |
I706F |
possibly damaging |
Het |
Sfmbt1 |
A |
G |
14: 30,487,991 (GRCm39) |
|
probably benign |
Het |
Slc25a39 |
T |
C |
11: 102,294,344 (GRCm39) |
I328V |
probably benign |
Het |
Smc4 |
G |
A |
3: 68,931,642 (GRCm39) |
E604K |
possibly damaging |
Het |
Sorcs3 |
A |
G |
19: 48,737,782 (GRCm39) |
Y733C |
possibly damaging |
Het |
Ttll5 |
T |
C |
12: 85,911,353 (GRCm39) |
V237A |
possibly damaging |
Het |
Uimc1 |
T |
A |
13: 55,188,359 (GRCm39) |
R567W |
possibly damaging |
Het |
Wbp4 |
A |
T |
14: 79,709,800 (GRCm39) |
I145N |
probably benign |
Het |
Xbp1 |
A |
G |
11: 5,472,018 (GRCm39) |
E32G |
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 |
|
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 |
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'- TGGAAAACAGGCATCTTACCACTG -3'
(R):5'- AGAGTGCTCTGTAACCTTGC -3'
Sequencing Primer
(F):5'- ATCTTACCACTGCAGGCG -3'
(R):5'- AGAGTGCTCTGTAACCTTGCTTTTG -3'
|
Posted On |
2018-11-28 |