Incidental Mutation 'R6615:Marchf8'
| ID |
523932 |
| 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 |
044738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R6615 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
116314985-116386501 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116382624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 147
(E147G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026795]
[ENSMUST00000079012]
[ENSMUST00000101032]
[ENSMUST00000123405]
[ENSMUST00000135901]
[ENSMUST00000203116]
[ENSMUST00000203193]
[ENSMUST00000204657]
[ENSMUST00000203722]
[ENSMUST00000140884]
|
| 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 damaging
Transcript: ENSMUST00000079012
AA Change: E147G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000078024
Gene: ENSMUSG00000025702
AA Change: E147G
| 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 damaging
Transcript: ENSMUST00000101032
AA Change: E147G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098594
Gene: ENSMUSG00000025702
AA Change: E147G
| 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 |
noncoding transcript
Transcript: ENSMUST00000123246
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123405
AA Change: E429G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144936
Gene: ENSMUSG00000025702
AA Change: E429G
| 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 |
noncoding transcript
Transcript: ENSMUST00000127992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130445
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135901
AA Change: E126G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115510
Gene: ENSMUSG00000025702
AA Change: E126G
| 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 damaging
Transcript: ENSMUST00000203116
AA Change: E20G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203193
AA Change: E108G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145137
Gene: ENSMUSG00000025702
AA Change: E108G
| 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 damaging
Transcript: ENSMUST00000204657
AA Change: E147G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145351
Gene: ENSMUSG00000025702
AA Change: E147G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169625
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000156014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167447
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000204918
|
| Meta Mutation Damage Score |
0.4648 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Avl9 |
T |
C |
6: 56,730,870 (GRCm39) |
V598A |
probably benign |
Het |
| Bcar3 |
T |
A |
3: 122,220,282 (GRCm39) |
S60T |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Homo |
| Calm3 |
A |
G |
7: 16,651,508 (GRCm39) |
|
probably null |
Het |
| Ccdc113 |
A |
C |
8: 96,272,620 (GRCm39) |
E242D |
probably benign |
Het |
| Celsr1 |
C |
T |
15: 85,786,315 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
T |
A |
11: 29,528,149 (GRCm39) |
M559K |
possibly damaging |
Het |
| Dhx36 |
T |
A |
3: 62,396,338 (GRCm39) |
I440L |
probably benign |
Het |
| Dnah7c |
A |
T |
1: 46,554,599 (GRCm39) |
T445S |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dsc2 |
T |
A |
18: 20,165,576 (GRCm39) |
H843L |
possibly damaging |
Het |
| F11 |
T |
C |
8: 45,701,811 (GRCm39) |
Y333C |
probably benign |
Het |
| Fbxo41 |
T |
C |
6: 85,455,505 (GRCm39) |
T560A |
possibly damaging |
Het |
| Fbxo7 |
A |
T |
10: 85,880,398 (GRCm39) |
H282L |
possibly damaging |
Het |
| Gmnc |
T |
G |
16: 26,779,278 (GRCm39) |
D243A |
probably benign |
Het |
| Hdac5 |
C |
A |
11: 102,087,882 (GRCm39) |
|
probably null |
Het |
| Krt87 |
A |
G |
15: 101,334,443 (GRCm39) |
V188A |
probably benign |
Het |
| Lpxn |
G |
A |
19: 12,802,163 (GRCm39) |
V163M |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,931,396 (GRCm39) |
L55Q |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,860,091 (GRCm39) |
C621Y |
probably damaging |
Het |
| Muc16 |
T |
G |
9: 18,558,484 (GRCm39) |
H2603P |
unknown |
Het |
| Nipa1 |
T |
A |
7: 55,629,571 (GRCm39) |
N181Y |
probably damaging |
Het |
| Nt5el |
T |
A |
13: 105,248,993 (GRCm39) |
N402K |
probably damaging |
Het |
| Or14c45 |
A |
G |
7: 86,176,120 (GRCm39) |
T52A |
probably benign |
Het |
| Or2h2c |
G |
A |
17: 37,422,494 (GRCm39) |
P127S |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,457 (GRCm39) |
D231G |
probably benign |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,430,994 (GRCm39) |
F104L |
probably damaging |
Het |
| Or7g35 |
A |
G |
9: 19,496,285 (GRCm39) |
I151V |
probably benign |
Het |
| Pcf11 |
T |
A |
7: 92,307,090 (GRCm39) |
Q1026L |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,687,644 (GRCm39) |
K378T |
possibly damaging |
Het |
| Ptprm |
C |
T |
17: 67,660,951 (GRCm39) |
|
probably null |
Het |
| Pxmp2 |
C |
A |
5: 110,425,573 (GRCm39) |
W154L |
possibly damaging |
Het |
| Rdh7 |
T |
G |
10: 127,720,491 (GRCm39) |
S294R |
probably damaging |
Het |
| Rexo1 |
C |
T |
10: 80,379,848 (GRCm39) |
R994Q |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,446,383 (GRCm39) |
T2810A |
probably benign |
Het |
| Serpina3c |
A |
T |
12: 104,117,980 (GRCm39) |
H119Q |
possibly damaging |
Het |
| Slc12a2 |
T |
G |
18: 58,031,200 (GRCm39) |
I335R |
probably damaging |
Het |
| Slc25a13 |
C |
T |
6: 6,073,454 (GRCm39) |
R468Q |
probably damaging |
Het |
| Slc5a6 |
C |
T |
5: 31,194,174 (GRCm39) |
V628I |
probably benign |
Het |
| Srsf2 |
T |
C |
11: 116,743,905 (GRCm39) |
|
probably null |
Het |
| Sugp2 |
A |
G |
8: 70,695,420 (GRCm39) |
Q131R |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,251,340 (GRCm39) |
R2525G |
probably damaging |
Het |
| Tars3 |
T |
C |
7: 65,327,890 (GRCm39) |
F533S |
probably damaging |
Het |
| Tmem8b |
G |
T |
4: 43,682,249 (GRCm39) |
G82W |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,837,890 (GRCm39) |
I987T |
possibly damaging |
Het |
| Usp44 |
T |
C |
10: 93,682,351 (GRCm39) |
V267A |
possibly damaging |
Het |
| Wac |
C |
A |
18: 7,868,884 (GRCm39) |
|
probably null |
Het |
| Xkr5 |
T |
C |
8: 18,983,569 (GRCm39) |
I658V |
probably benign |
Het |
| Zbtb38 |
A |
T |
9: 96,568,707 (GRCm39) |
Y792* |
probably null |
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 |
|
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 |
|
R7249:Marchf8
|
UTSW |
6 |
116,383,195 (GRCm39) |
missense |
probably benign |
0.17 |
|
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'- GCTATGTCATTGAAGCCAACTGG -3'
(R):5'- TGCTCTCTCAGGAAACAGAGC -3'
Sequencing Primer
(F):5'- AGATTGATCTGGCCTAGG -3'
(R):5'- TCTCTCAGGAAACAGAGCTCTAAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation