Incidental Mutation 'R5788:Amfr'
| ID |
448154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amfr
|
| Ensembl Gene |
ENSMUSG00000031751 |
| Gene Name |
autocrine motility factor receptor |
| Synonyms |
gp78 |
| MMRRC Submission |
043382-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5788 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
94698216-94739301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94726942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 90
(R90S)
|
| 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: R164S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000052258
Gene: ENSMUSG00000031751
AA Change: R164S
| 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: R90S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134924
Gene: ENSMUSG00000031751
AA Change: R90S
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
98% (62/63) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
A |
G |
7: 131,045,328 (GRCm39) |
Y420C |
probably benign |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
| Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
| Atp8a2 |
T |
A |
14: 60,258,242 (GRCm39) |
D440V |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,177,178 (GRCm39) |
D2022G |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,385,498 (GRCm39) |
F77S |
probably benign |
Het |
| Ccdc66 |
C |
T |
14: 27,220,448 (GRCm39) |
R255H |
probably benign |
Het |
| Ckm |
A |
G |
7: 19,153,372 (GRCm39) |
D152G |
probably benign |
Het |
| Cpsf7 |
T |
G |
19: 10,518,082 (GRCm39) |
S431A |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 16,251,980 (GRCm39) |
T959A |
probably damaging |
Het |
| Dkk4 |
T |
C |
8: 23,115,347 (GRCm39) |
C66R |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,232,465 (GRCm39) |
W2058R |
probably damaging |
Het |
| Evi5l |
A |
T |
8: 4,256,800 (GRCm39) |
|
probably benign |
Het |
| Fancg |
A |
T |
4: 43,007,130 (GRCm39) |
|
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,108,296 (GRCm39) |
H108L |
probably benign |
Het |
| Fzd2 |
A |
T |
11: 102,496,293 (GRCm39) |
T246S |
probably benign |
Het |
| Gm10428 |
T |
G |
11: 62,644,107 (GRCm39) |
|
probably benign |
Het |
| Gm1988 |
T |
A |
7: 38,821,627 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm7133 |
A |
T |
1: 97,171,201 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,717,962 (GRCm39) |
N710S |
probably benign |
Het |
| Hcn2 |
T |
C |
10: 79,552,945 (GRCm39) |
V148A |
possibly damaging |
Het |
| Hephl1 |
A |
G |
9: 14,995,579 (GRCm39) |
L483S |
possibly damaging |
Het |
| Hinfp |
C |
T |
9: 44,209,105 (GRCm39) |
E338K |
possibly damaging |
Het |
| Hsd17b4 |
G |
A |
18: 50,306,776 (GRCm39) |
D494N |
probably damaging |
Het |
| Ipo4 |
C |
T |
14: 55,866,277 (GRCm39) |
V801M |
probably benign |
Het |
| Kcns2 |
A |
C |
15: 34,839,000 (GRCm39) |
Y121S |
probably benign |
Het |
| Kif1c |
T |
A |
11: 70,599,654 (GRCm39) |
L462H |
probably damaging |
Het |
| Lrrk2 |
T |
G |
15: 91,648,851 (GRCm39) |
V1615G |
possibly damaging |
Het |
| Naca |
G |
A |
10: 127,876,011 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
| Ndufs2 |
A |
G |
1: 171,066,954 (GRCm39) |
Y135H |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,965,114 (GRCm39) |
V1566A |
probably benign |
Het |
| Or52d13 |
C |
T |
7: 103,110,086 (GRCm39) |
V110I |
possibly damaging |
Het |
| Or52n4b |
T |
C |
7: 108,144,551 (GRCm39) |
I271T |
probably damaging |
Het |
| Or5t17 |
A |
G |
2: 86,832,645 (GRCm39) |
T111A |
probably benign |
Het |
| Or6c75 |
A |
G |
10: 129,336,779 (GRCm39) |
M1V |
probably null |
Het |
| Or6c75 |
A |
T |
10: 129,336,763 (GRCm39) |
L3F |
probably benign |
Het |
| Pcid2 |
C |
T |
8: 13,150,320 (GRCm39) |
|
probably null |
Het |
| Pld4 |
A |
C |
12: 112,730,551 (GRCm39) |
I145L |
probably benign |
Het |
| Pogk |
A |
T |
1: 166,236,580 (GRCm39) |
|
probably benign |
Het |
| Rhbg |
C |
T |
3: 88,152,874 (GRCm39) |
V280I |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rxfp3 |
A |
G |
15: 11,036,250 (GRCm39) |
F374S |
possibly damaging |
Het |
| Son |
A |
G |
16: 91,456,940 (GRCm39) |
|
probably benign |
Het |
| Specc1l |
G |
T |
10: 75,112,755 (GRCm39) |
R994L |
probably damaging |
Het |
| Tas2r135 |
T |
A |
6: 42,382,531 (GRCm39) |
D23E |
probably damaging |
Het |
| Teddm2 |
A |
T |
1: 153,726,810 (GRCm39) |
H21Q |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,675,737 (GRCm39) |
T780A |
possibly damaging |
Het |
| Thbs1 |
T |
A |
2: 117,952,989 (GRCm39) |
D866E |
probably damaging |
Het |
| Tmed4 |
A |
G |
11: 6,221,743 (GRCm39) |
W198R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,749,575 (GRCm39) |
C3825S |
probably benign |
Het |
| Uchl1 |
T |
A |
5: 66,833,754 (GRCm39) |
|
probably benign |
Het |
| Wsb2 |
A |
G |
5: 117,515,483 (GRCm39) |
T363A |
possibly damaging |
Het |
| Zfp266 |
A |
G |
9: 20,417,332 (GRCm39) |
Y19H |
probably damaging |
Het |
| Zkscan17 |
A |
G |
11: 59,378,086 (GRCm39) |
C366R |
probably 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 |
|
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'- CCAAGGCTAGGAGTGGCTATAG -3'
(R):5'- AAGTCCACTTGGTATGCTGC -3'
Sequencing Primer
(F):5'- CTAGGAGTGGCTATAGGGCTTG -3'
(R):5'- TGGTATGCTGCGACTCAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation