Incidental Mutation 'R8858:Amfr'
| ID |
675466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amfr
|
| Ensembl Gene |
ENSMUSG00000031751 |
| Gene Name |
autocrine motility factor receptor |
| Synonyms |
gp78 |
| MMRRC Submission |
068738-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8858 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
94698216-94739301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94714070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 254
(Y254H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053766]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053766
AA Change: Y254H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052258
Gene: ENSMUSG00000031751
AA Change: Y254H
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (47/47) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,638,338 (GRCm39) |
Q91R |
probably benign |
Het |
| Abca16 |
G |
T |
7: 120,052,327 (GRCm39) |
C465F |
probably benign |
Het |
| Arl6ip6 |
A |
G |
2: 53,093,018 (GRCm39) |
E181G |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,465,971 (GRCm39) |
E1066G |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,101,964 (GRCm39) |
V100A |
probably benign |
Het |
| Cep126 |
T |
C |
9: 8,130,270 (GRCm39) |
M54V |
probably benign |
Het |
| Ciao2a |
T |
C |
9: 66,039,824 (GRCm39) |
I47T |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,120,318 (GRCm39) |
V1829A |
probably benign |
Het |
| Cyp2c54 |
G |
A |
19: 40,062,227 (GRCm39) |
T10I |
probably benign |
Het |
| Dennd11 |
T |
C |
6: 40,399,669 (GRCm39) |
N173S |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,977,781 (GRCm39) |
Y799C |
probably damaging |
Het |
| Dnajc17 |
T |
C |
2: 119,011,445 (GRCm39) |
T162A |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,666,339 (GRCm39) |
E695G |
possibly damaging |
Het |
| Gadl1 |
A |
T |
9: 115,835,669 (GRCm39) |
S366C |
probably damaging |
Het |
| Gbp11 |
C |
A |
5: 105,473,392 (GRCm39) |
E454* |
probably null |
Het |
| Gm32742 |
T |
A |
9: 51,062,256 (GRCm39) |
T691S |
probably benign |
Het |
| Gsdma3 |
C |
A |
11: 98,520,695 (GRCm39) |
Q109K |
probably benign |
Het |
| Hsph1 |
A |
T |
5: 149,548,576 (GRCm39) |
V482E |
probably damaging |
Het |
| Ighv1-23 |
T |
A |
12: 114,728,083 (GRCm39) |
Y113F |
probably benign |
Het |
| Lactb |
G |
T |
9: 66,863,182 (GRCm39) |
Y477* |
probably null |
Het |
| Lgr6 |
T |
C |
1: 134,923,849 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,560,827 (GRCm39) |
|
probably benign |
Het |
| Map3k4 |
A |
C |
17: 12,490,759 (GRCm39) |
L224R |
probably damaging |
Het |
| Mex3d |
A |
T |
10: 80,217,217 (GRCm39) |
C667S |
unknown |
Het |
| Myh8 |
A |
G |
11: 67,192,820 (GRCm39) |
E1537G |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,091,965 (GRCm39) |
S1205P |
probably damaging |
Het |
| Nfic |
A |
T |
10: 81,262,965 (GRCm39) |
|
probably benign |
Het |
| Nrcam |
T |
A |
12: 44,644,554 (GRCm39) |
|
probably benign |
Het |
| Or2aj6 |
A |
G |
16: 19,443,109 (GRCm39) |
V247A |
probably damaging |
Het |
| Or4f54 |
G |
A |
2: 111,123,503 (GRCm39) |
V297M |
probably benign |
Het |
| Orc2 |
A |
T |
1: 58,532,857 (GRCm39) |
D127E |
probably benign |
Het |
| Ppp2r5c |
T |
A |
12: 110,519,329 (GRCm39) |
|
probably null |
Het |
| Ptpn18 |
A |
G |
1: 34,502,196 (GRCm39) |
T71A |
possibly damaging |
Het |
| Ptpru |
T |
C |
4: 131,526,825 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
C |
A |
2: 146,102,285 (GRCm39) |
|
probably null |
Het |
| Rnase9 |
G |
A |
14: 51,276,766 (GRCm39) |
P71S |
|
Het |
| Ryr1 |
A |
G |
7: 28,808,638 (GRCm39) |
L485P |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,118,302 (GRCm39) |
D476G |
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,438,850 (GRCm39) |
Y170C |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,855,423 (GRCm39) |
S354P |
probably benign |
Het |
| St8sia5 |
C |
T |
18: 77,320,511 (GRCm39) |
P88S |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,854,497 (GRCm39) |
|
probably null |
Het |
| Tnfrsf13b |
A |
G |
11: 61,038,363 (GRCm39) |
I215M |
possibly damaging |
Het |
| Unc13d |
G |
T |
11: 115,953,618 (GRCm39) |
L1052M |
probably damaging |
Het |
| Vasn |
A |
G |
16: 4,466,833 (GRCm39) |
D260G |
probably benign |
Het |
| Wdr77 |
T |
C |
3: 105,868,978 (GRCm39) |
V116A |
probably damaging |
Het |
| Zfp560 |
A |
G |
9: 20,260,403 (GRCm39) |
I153T |
probably benign |
Het |
| Zfp672 |
G |
A |
11: 58,208,145 (GRCm39) |
R59C |
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 |
|
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 |
|
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'- AATGGCATGTCCTACCACAGC -3'
(R):5'- CCGACAGTTGCTTGTTCAGTTG -3'
Sequencing Primer
(F):5'- TATGGGGGACTCACCAGCATG -3'
(R):5'- TTCAGTTGGCTTTGAGATGTAATAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation