Incidental Mutation 'R7249:Marchf8'
| ID |
563753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marchf8
|
| Ensembl Gene |
ENSMUSG00000025702 |
| Gene Name |
membrane associated ring-CH-type finger 8 |
| Synonyms |
March8, 1300017E09Rik, Mir |
| MMRRC Submission |
045312-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R7249 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
116314985-116386501 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116383195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 257
(E257K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026795]
[ENSMUST00000079012]
[ENSMUST00000101032]
[ENSMUST00000123405]
[ENSMUST00000135901]
[ENSMUST00000140884]
[ENSMUST00000164547]
[ENSMUST00000170186]
[ENSMUST00000203116]
[ENSMUST00000203193]
[ENSMUST00000203722]
[ENSMUST00000204657]
|
| AlphaFold |
Q9DBD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026795
|
| SMART Domains |
Protein: ENSMUSP00000026795
Gene: ENSMUSG00000025701
| Domain | Start | End | E-Value | Type |
|---|
|
LH2
|
2 |
115 |
3.41e-39 |
SMART |
|
Pfam:Lipoxygenase
|
212 |
662 |
1.5e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079012
AA Change: E257K
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078024
Gene: ENSMUSG00000025702
AA Change: E257K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
64 |
N/A |
INTRINSIC |
|
RINGv
|
75 |
123 |
1.16e-23 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101032
AA Change: E257K
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000098594
Gene: ENSMUSG00000025702
AA Change: E257K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
64 |
N/A |
INTRINSIC |
|
RINGv
|
75 |
123 |
1.16e-23 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123405
AA Change: E539K
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144936
Gene: ENSMUSG00000025702
AA Change: E539K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
270 |
N/A |
INTRINSIC |
|
RINGv
|
357 |
405 |
2.4e-25 |
SMART |
|
transmembrane domain
|
433 |
455 |
N/A |
INTRINSIC |
|
transmembrane domain
|
475 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135901
|
| SMART Domains |
Protein: ENSMUSP00000115510
Gene: ENSMUSG00000025702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
60 |
N/A |
INTRINSIC |
|
RINGv
|
71 |
119 |
1.16e-23 |
SMART |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
transmembrane domain
|
184 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140884
|
| SMART Domains |
Protein: ENSMUSP00000145060
Gene: ENSMUSG00000025702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
64 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164547
|
| SMART Domains |
Protein: ENSMUSP00000130780
Gene: ENSMUSG00000025701
| Domain | Start | End | E-Value | Type |
|---|
|
LH2
|
2 |
115 |
3.41e-39 |
SMART |
|
Pfam:Lipoxygenase
|
125 |
217 |
5.1e-12 |
PFAM |
|
Pfam:Lipoxygenase
|
213 |
564 |
8.4e-133 |
PFAM |
|
Pfam:Lipoxygenase
|
558 |
609 |
7.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170186
|
| SMART Domains |
Protein: ENSMUSP00000130424
Gene: ENSMUSG00000025701
| Domain | Start | End | E-Value | Type |
|---|
|
LH2
|
2 |
115 |
3.41e-39 |
SMART |
|
Pfam:Lipoxygenase
|
150 |
220 |
1.9e-13 |
PFAM |
|
Pfam:Lipoxygenase
|
215 |
432 |
8.6e-79 |
PFAM |
|
Pfam:Lipoxygenase
|
426 |
634 |
1e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203116
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203193
AA Change: E218K
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000145137
Gene: ENSMUSG00000025702
AA Change: E218K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
RINGv
|
36 |
84 |
2.9e-26 |
SMART |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
transmembrane domain
|
149 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203722
|
| SMART Domains |
Protein: ENSMUSP00000145367
Gene: ENSMUSG00000025701
| Domain | Start | End | E-Value | Type |
|---|
|
LH2
|
2 |
115 |
2.2e-41 |
SMART |
|
Pfam:Lipoxygenase
|
213 |
430 |
3e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204657
|
| SMART Domains |
Protein: ENSMUSP00000145351
Gene: ENSMUSG00000025702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
64 |
N/A |
INTRINSIC |
|
RINGv
|
75 |
123 |
2.9e-26 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the membrane-associated really interesting new gene-CH family of proteins. These proteins are E3 ubiquitin-protein ligases that modulate antigen presentation by downregulating major histocompatibility complex class II surface expression through endocytosis. The transcript is primarily expressed by dendritic cells and macrophages. Overexpression of this gene in antigen presenting cells results in immune defective phenotypes, including resistance to autoimmune disease onset. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a normal CD4+ T cell compartment in the thymus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
T |
C |
8: 79,974,970 (GRCm39) |
T38A |
probably benign |
Het |
| 3425401B19Rik |
G |
T |
14: 32,385,271 (GRCm39) |
S231R |
possibly damaging |
Het |
| Abi1 |
T |
C |
2: 22,847,101 (GRCm39) |
E250G |
possibly damaging |
Het |
| Actl6b |
T |
A |
5: 137,553,347 (GRCm39) |
S120T |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,522,378 (GRCm39) |
H5920Y |
probably damaging |
Het |
| Adra2c |
G |
A |
5: 35,438,299 (GRCm39) |
R357H |
probably damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,577,767 (GRCm39) |
D20G |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,506,583 (GRCm39) |
D847E |
possibly damaging |
Het |
| Cacna1d |
T |
C |
14: 29,864,660 (GRCm39) |
E434G |
probably damaging |
Het |
| Carm1 |
T |
C |
9: 21,497,505 (GRCm39) |
Y356H |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,741,663 (GRCm39) |
K1075R |
probably damaging |
Het |
| Cyp27b1 |
G |
T |
10: 126,886,918 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,113,885 (GRCm39) |
V1769D |
possibly damaging |
Het |
| Dchs2 |
C |
T |
3: 83,035,336 (GRCm39) |
Q28* |
probably null |
Het |
| Dpp4 |
A |
G |
2: 62,215,547 (GRCm39) |
F107L |
probably benign |
Het |
| Eln |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
5: 134,739,935 (GRCm39) |
|
probably benign |
Het |
| Faap24 |
A |
G |
7: 35,094,485 (GRCm39) |
V105A |
probably benign |
Het |
| Gabra6 |
A |
T |
11: 42,208,259 (GRCm39) |
D166E |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,033,126 (GRCm39) |
E117G |
probably damaging |
Het |
| H2-T10 |
T |
C |
17: 36,430,269 (GRCm39) |
D224G |
probably damaging |
Het |
| Hspa12a |
T |
A |
19: 58,793,865 (GRCm39) |
E332V |
probably benign |
Het |
| Htr5b |
T |
A |
1: 121,438,203 (GRCm39) |
N343Y |
probably damaging |
Het |
| Irf8 |
C |
A |
8: 121,466,571 (GRCm39) |
N5K |
possibly damaging |
Het |
| Itgb1 |
C |
A |
8: 129,446,885 (GRCm39) |
Q467K |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,212,550 (GRCm39) |
C1522F |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,025,596 (GRCm39) |
L138I |
probably benign |
Het |
| Lrrc8b |
G |
T |
5: 105,629,133 (GRCm39) |
R493L |
probably benign |
Het |
| Malrd1 |
G |
T |
2: 15,628,151 (GRCm39) |
C400F |
probably damaging |
Het |
| Mastl |
G |
A |
2: 23,036,151 (GRCm39) |
H122Y |
probably damaging |
Het |
| Mis18a |
T |
C |
16: 90,523,202 (GRCm39) |
K98R |
possibly damaging |
Het |
| Msra |
A |
G |
14: 64,678,212 (GRCm39) |
V28A |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,043,520 (GRCm39) |
V177A |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,264,999 (GRCm39) |
|
probably null |
Het |
| Nemp1 |
T |
C |
10: 127,529,395 (GRCm39) |
S226P |
probably damaging |
Het |
| Nmnat1 |
G |
A |
4: 149,554,099 (GRCm39) |
T147I |
probably null |
Het |
| Ntng2 |
A |
G |
2: 29,118,004 (GRCm39) |
V148A |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,878,245 (GRCm39) |
H304R |
possibly damaging |
Het |
| Or4a2 |
T |
C |
2: 89,248,217 (GRCm39) |
Y180C |
probably damaging |
Het |
| Phldb2 |
C |
A |
16: 45,621,977 (GRCm39) |
A623S |
probably damaging |
Het |
| Pitrm1 |
C |
T |
13: 6,610,161 (GRCm39) |
T411I |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,974,773 (GRCm39) |
R429Q |
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,849,741 (GRCm39) |
|
probably null |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Pnp |
G |
A |
14: 51,188,887 (GRCm39) |
V227I |
probably benign |
Het |
| Pskh1 |
T |
C |
8: 106,639,886 (GRCm39) |
S189P |
possibly damaging |
Het |
| Rbpms2 |
T |
G |
9: 65,556,632 (GRCm39) |
V24G |
probably damaging |
Het |
| Robo3 |
T |
A |
9: 37,336,129 (GRCm39) |
I446L |
probably benign |
Het |
| Septin8 |
A |
T |
11: 53,425,949 (GRCm39) |
K174I |
probably damaging |
Het |
| Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
| Slco4a1 |
A |
G |
2: 180,106,604 (GRCm39) |
Y262C |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Spidr |
T |
C |
16: 15,784,512 (GRCm39) |
S519G |
probably benign |
Het |
| Ssx2ip |
A |
G |
3: 146,132,193 (GRCm39) |
N218S |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,056,270 (GRCm39) |
V381A |
probably benign |
Het |
| Svil |
T |
C |
18: 5,062,247 (GRCm39) |
S769P |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,061,732 (GRCm39) |
C2595S |
possibly damaging |
Het |
| Tiam1 |
T |
C |
16: 89,640,143 (GRCm39) |
Y858C |
probably damaging |
Het |
| Tie1 |
A |
G |
4: 118,343,425 (GRCm39) |
V146A |
probably benign |
Het |
| Traf3ip1 |
G |
T |
1: 91,455,361 (GRCm39) |
E578D |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,663 (GRCm39) |
Y247C |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,826,729 (GRCm39) |
W896R |
probably damaging |
Het |
| Vmn1r157 |
T |
C |
7: 22,461,125 (GRCm39) |
S2P |
probably benign |
Het |
| Xkr4 |
T |
A |
1: 3,287,033 (GRCm39) |
T386S |
probably damaging |
Het |
| Zdhhc24 |
T |
G |
19: 4,928,889 (GRCm39) |
V38G |
possibly damaging |
Het |
|
| Other mutations in Marchf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02966:Marchf8
|
APN |
6 |
116,380,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
strider
|
UTSW |
6 |
116,379,004 (GRCm39) |
missense |
probably benign |
|
|
R0828:Marchf8
|
UTSW |
6 |
116,382,639 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2869:Marchf8
|
UTSW |
6 |
116,378,106 (GRCm39) |
intron |
probably benign |
|
|
R2870:Marchf8
|
UTSW |
6 |
116,378,106 (GRCm39) |
intron |
probably benign |
|
|
R4963:Marchf8
|
UTSW |
6 |
116,363,232 (GRCm39) |
intron |
probably benign |
|
|
R5617:Marchf8
|
UTSW |
6 |
116,380,481 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6329:Marchf8
|
UTSW |
6 |
116,383,277 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6361:Marchf8
|
UTSW |
6 |
116,379,062 (GRCm39) |
missense |
probably null |
1.00 |
|
R6615:Marchf8
|
UTSW |
6 |
116,382,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6771:Marchf8
|
UTSW |
6 |
116,379,004 (GRCm39) |
missense |
probably benign |
|
|
R7014:Marchf8
|
UTSW |
6 |
116,380,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Marchf8
|
UTSW |
6 |
116,380,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7558:Marchf8
|
UTSW |
6 |
116,380,526 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8218:Marchf8
|
UTSW |
6 |
116,315,059 (GRCm39) |
start gained |
probably benign |
|
|
R8671:Marchf8
|
UTSW |
6 |
116,378,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9072:Marchf8
|
UTSW |
6 |
116,378,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9073:Marchf8
|
UTSW |
6 |
116,378,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9570:Marchf8
|
UTSW |
6 |
116,382,639 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9571:Marchf8
|
UTSW |
6 |
116,383,237 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9632:Marchf8
|
UTSW |
6 |
116,378,405 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9710:Marchf8
|
UTSW |
6 |
116,378,405 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9733:Marchf8
|
UTSW |
6 |
116,378,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Marchf8
|
UTSW |
6 |
116,315,233 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTCTGGACGAAGCTGGTAG -3'
(R):5'- TAGTCACCTGCCCAGTCTATG -3'
Sequencing Primer
(F):5'- AAGCTGGTAGTTGTGGCCATC -3'
(R):5'- GCCCAGTCTATGCTATTAAACG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation