Incidental Mutation 'RF035:Amfr'
| ID |
604532 |
| 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 # |
RF035 (G1)
|
| Quality Score |
214.492 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
94698216-94739301 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
GCC to GCCGGCGCGAGCTCC
at 94738920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034204]
[ENSMUST00000053766]
[ENSMUST00000143265]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034204
|
| SMART Domains |
Protein: ENSMUSP00000034204
Gene: ENSMUSG00000031754
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX_2
|
35 |
222 |
9.9e-85 |
PFAM |
|
| Predicted Effect |
probably benign
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 benign
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 |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
T |
TTTGGCTGCC |
1: 82,891,310 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
TGCATCCTGGGCTGC |
TGCATCCTGGGCTGCCGCATCCTGGGCTGC |
4: 155,989,548 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
G |
GGCT |
19: 5,475,266 (GRCm39) |
|
probably benign |
Het |
| Amot |
GGAGCAGCAA |
G |
X: 144,233,984 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
TAT |
TATTATTATTATTATGAT |
3: 37,104,907 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGTAG |
X: 7,486,293 (GRCm39) |
|
probably null |
Het |
| Calhm1 |
CTGTGGCTGTGGCTGTGGCTGTGG |
CTGTGGCTGTGGTTGTGGCTGTGGCTGTGGCTGTGG |
19: 47,129,692 (GRCm39) |
|
probably benign |
Het |
| Chga |
G |
GCAT |
12: 102,527,686 (GRCm39) |
|
probably benign |
Het |
| E4f1 |
CGC |
CGCTGC |
17: 24,674,164 (GRCm39) |
|
probably benign |
Het |
| E4f1 |
CCG |
CCGGCG |
17: 24,674,169 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
C |
CTCAG |
6: 137,494,068 (GRCm39) |
|
probably null |
Het |
| Exd2 |
GCAGCCACAGCAGCCGCAGCAGCCGCAGCCACAGCCACAGCCACAGCCACAGCCACAGC |
GCAGCCACAGC |
12: 80,522,674 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
CAGCCAGAGC |
CAGC |
12: 80,522,729 (GRCm39) |
|
probably benign |
Het |
| Gm10447 |
AAAAAAAAAGAAAAA |
AAAAAA |
11: 53,347,165 (GRCm39) |
|
probably benign |
Het |
| Gm10521 |
CTCTCTCTCT |
CTCTCTCTCTCTCT |
1: 171,723,860 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
TGTG |
TGTGCGAGTG |
19: 11,489,137 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
CACACACACACACACACTTAC |
CAC |
14: 62,646,090 (GRCm39) |
|
probably benign |
Het |
| Ier5l |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
2: 30,363,832 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
TTCTCCT |
TTCTCCTTCTCCT |
7: 30,285,782 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAG |
CAGCCAAAG |
1: 83,019,867 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACCACAGC |
CCACCACAGCCACAGTCACCACAGC |
1: 83,020,002 (GRCm39) |
|
probably benign |
Het |
| Lmx1b |
TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA |
TACATCTTGATGCCGTCCA |
2: 33,530,501 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
GCAACA |
GCAACAACA |
X: 70,162,418 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCGGC |
X: 70,162,456 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,444 (GRCm39) |
|
probably benign |
Het |
| Manbal |
CGATAGAAT |
C |
2: 157,237,932 (GRCm39) |
|
probably null |
Het |
| Map1a |
GCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCA |
2: 121,136,782 (GRCm39) |
|
probably benign |
Het |
| Mcph1 |
CTCT |
CTCTTCT |
8: 18,702,541 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CCTCACCTGGGGACTTGG |
CCTCACCTGGGGACTTGGGCTCACCTGGGGACTTGG |
11: 4,891,039 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GATACACGTTAGCAGTGAGGAGCAAGCTGA |
GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA |
2: 119,458,060 (GRCm39) |
|
probably benign |
Het |
| Or2t49 |
TGGAGGTGGATTGG |
TG |
11: 58,393,208 (GRCm39) |
|
probably benign |
Het |
| P4ha2 |
CCAGGTG |
C |
11: 54,001,061 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
CCACCA |
CCACCAACACCA |
4: 134,006,821 (GRCm39) |
|
probably benign |
Het |
| Polr1has |
CACCAC |
CACCACCCCCACCACCACCACAACCAC |
17: 37,275,958 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC |
GCCTCACTCATGGTCCTGTAGAGCAATGGGGATTCTTCCTCACTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,767 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
TCTCTCTCTCTCTCT |
TCTCTCTCTCTCTCTCGCTCTCTCTCTCTCT |
10: 84,694,344 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
GCTAAAAAAAAAAAAAAAAA |
G |
15: 36,010,981 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
AGG |
AGGGGG |
14: 52,386,850 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TGTGGTC |
TGTGGTCATCATGATCACCATGGTCACCATGAGCACGGTGGTC |
15: 76,499,066 (GRCm39) |
|
probably benign |
Het |
| Srpk2 |
ATCCT |
AT |
5: 23,730,573 (GRCm39) |
|
probably benign |
Het |
| Strn |
AGTC |
AGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCTGTC |
17: 78,984,714 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
AAGAT |
AAGATTGGCCCTTTCCCAGAGATGCCCTTGGCTGCTGAGAT |
18: 60,966,625 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
AGC |
AGCCGC |
17: 48,097,036 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
T |
TGTTTGTTG |
4: 107,047,729 (GRCm39) |
|
probably benign |
Het |
| Trav6d-5 |
ATTTTT |
ATTTTTTTTTT |
14: 53,032,791 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CAGGACTCCCTGTGCCCAACGG |
CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG |
15: 78,851,239 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
GGA |
GGATGA |
6: 115,537,028 (GRCm39) |
|
probably benign |
Het |
| Ttf2 |
TTCT |
TTCTTCT |
3: 100,870,473 (GRCm39) |
|
probably benign |
Het |
| Vat1l |
C |
T |
8: 115,016,069 (GRCm39) |
L320F |
probably damaging |
Het |
| Xirp2 |
TT |
TTTAT |
2: 67,355,888 (GRCm39) |
|
probably benign |
Het |
| Yipf3 |
AGAGGA |
AGA |
17: 46,559,898 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
TT |
TTTGCGT |
4: 147,910,188 (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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATCCCGACACCTTCTC -3'
(R):5'- AGTCCGCCGAGGCTCTTC -3'
Sequencing Primer
(F):5'- GACACCTTCTCTCCGCGG -3'
(R):5'- CGCGAGCAGCTAGGAGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation