Incidental Mutation 'R1056:Amfr'
| ID |
94374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amfr
|
| Ensembl Gene |
ENSMUSG00000031751 |
| Gene Name |
autocrine motility factor receptor |
| Synonyms |
gp78 |
| MMRRC Submission |
039146-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1056 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
94698216-94739301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94712097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 278
(F278I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053766]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053766
AA Change: F278I
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000052258
Gene: ENSMUSG00000031751
AA Change: F278I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.7%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,924,295 (GRCm39) |
Y1649C |
probably damaging |
Het |
| Abcc10 |
A |
C |
17: 46,614,880 (GRCm39) |
C1459W |
possibly damaging |
Het |
| Anks1b |
G |
T |
10: 90,757,291 (GRCm39) |
|
probably null |
Het |
| Bak1 |
A |
G |
17: 27,240,247 (GRCm39) |
S147P |
possibly damaging |
Het |
| Bltp1 |
C |
A |
3: 37,037,602 (GRCm39) |
H2469N |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,098,829 (GRCm39) |
M1152K |
probably benign |
Het |
| C7 |
T |
C |
15: 5,075,260 (GRCm39) |
N144S |
possibly damaging |
Het |
| Casd1 |
T |
C |
6: 4,641,967 (GRCm39) |
V748A |
probably benign |
Het |
| Ccdc168 |
C |
T |
1: 44,100,087 (GRCm39) |
G337D |
probably damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,916,375 (GRCm39) |
S859P |
probably benign |
Het |
| Ccne2 |
T |
C |
4: 11,192,707 (GRCm39) |
S2P |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,364,051 (GRCm39) |
I541N |
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,633,177 (GRCm39) |
N58I |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,822,402 (GRCm39) |
S832P |
possibly damaging |
Het |
| Chl1 |
A |
T |
6: 103,652,038 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Coq2 |
G |
T |
5: 100,805,813 (GRCm39) |
N274K |
probably benign |
Het |
| Crhr2 |
A |
T |
6: 55,077,720 (GRCm39) |
V214E |
probably damaging |
Het |
| Dgkg |
G |
C |
16: 22,419,291 (GRCm39) |
P70A |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,147,731 (GRCm39) |
I966M |
probably benign |
Het |
| Eif5b |
C |
G |
1: 38,061,248 (GRCm39) |
R380G |
unknown |
Het |
| Fat4 |
T |
A |
3: 38,945,541 (GRCm39) |
I1478N |
probably damaging |
Het |
| Impact |
A |
T |
18: 13,109,581 (GRCm39) |
I92L |
probably benign |
Het |
| Ly6c2 |
A |
G |
15: 74,983,445 (GRCm39) |
|
probably null |
Het |
| Lypd6b |
G |
A |
2: 49,837,468 (GRCm39) |
V147I |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,769,894 (GRCm39) |
D192G |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,586,344 (GRCm39) |
|
probably null |
Het |
| Myo9a |
C |
T |
9: 59,739,484 (GRCm39) |
T732I |
possibly damaging |
Het |
| Myrf |
C |
T |
19: 10,200,850 (GRCm39) |
M274I |
probably benign |
Het |
| Nfx1 |
G |
A |
4: 41,003,057 (GRCm39) |
R686Q |
probably damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Oog4 |
T |
C |
4: 143,164,581 (GRCm39) |
T245A |
possibly damaging |
Het |
| Or1a1b |
C |
T |
11: 74,097,608 (GRCm39) |
V145I |
probably benign |
Het |
| Or52e3 |
A |
T |
7: 102,869,625 (GRCm39) |
E233D |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,590,069 (GRCm39) |
K790* |
probably null |
Het |
| Pcm1 |
A |
G |
8: 41,774,937 (GRCm39) |
E1668G |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,455,360 (GRCm39) |
N4040K |
probably damaging |
Het |
| Podnl1 |
T |
A |
8: 84,855,905 (GRCm39) |
S222T |
probably benign |
Het |
| Ppil4 |
A |
G |
10: 7,675,396 (GRCm39) |
T182A |
possibly damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,544 (GRCm39) |
K649E |
probably damaging |
Het |
| Prob1 |
A |
T |
18: 35,786,663 (GRCm39) |
H530Q |
probably benign |
Het |
| Rbbp4 |
A |
T |
4: 129,211,442 (GRCm39) |
M404K |
probably damaging |
Het |
| Rilpl1 |
A |
T |
5: 124,631,900 (GRCm39) |
F149I |
probably damaging |
Het |
| Sema6c |
T |
A |
3: 95,078,527 (GRCm39) |
S543T |
probably benign |
Het |
| Sh3rf3 |
G |
T |
10: 58,842,904 (GRCm39) |
W290L |
probably damaging |
Het |
| Slc2a12 |
T |
G |
10: 22,541,350 (GRCm39) |
S402A |
probably benign |
Het |
| Tas2r131 |
T |
A |
6: 132,934,030 (GRCm39) |
I260F |
possibly damaging |
Het |
| Tasp1 |
A |
G |
2: 139,850,684 (GRCm39) |
I113T |
possibly damaging |
Het |
| Tnrc18 |
G |
A |
5: 142,759,614 (GRCm39) |
R741* |
probably null |
Het |
| Ube2o |
G |
T |
11: 116,437,290 (GRCm39) |
D244E |
probably damaging |
Het |
| Vmn1r206 |
A |
T |
13: 22,804,784 (GRCm39) |
M141K |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp747 |
A |
G |
7: 126,973,760 (GRCm39) |
S137P |
probably benign |
Het |
| Zfp951 |
A |
T |
5: 104,963,151 (GRCm39) |
H138Q |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACCCTGAATCTCTGGAACCCTC -3'
(R):5'- ACCGACCTTAAAGAGCCTCTGCTG -3'
Sequencing Primer
(F):5'- CATCCCAGGAAGGAAGTTCTATGTC -3'
(R):5'- gctctcccctgttgctc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation