Incidental Mutation 'R7558:Marchf8'
| ID |
584884 |
| 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 |
045625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R7558 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
116314985-116386501 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116380526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 126
(F126L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079012]
[ENSMUST00000101032]
[ENSMUST00000123405]
[ENSMUST00000135901]
[ENSMUST00000140884]
[ENSMUST00000203116]
[ENSMUST00000203193]
[ENSMUST00000204657]
|
| AlphaFold |
Q9DBD2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079012
AA Change: F126L
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078024
Gene: ENSMUSG00000025702
AA Change: F126L
| 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: ENSMUST00000101032
AA Change: F126L
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098594
Gene: ENSMUSG00000025702
AA Change: F126L
| 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: F408L
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144936
Gene: ENSMUSG00000025702
AA Change: F408L
| 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 |
possibly damaging
Transcript: ENSMUST00000135901
AA Change: F105L
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115510
Gene: ENSMUSG00000025702
AA Change: F105L
| 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: ENSMUST00000203116
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203193
AA Change: F87L
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145137
Gene: ENSMUSG00000025702
AA Change: F87L
| 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 |
possibly damaging
Transcript: ENSMUST00000204657
AA Change: F126L
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145351
Gene: ENSMUSG00000025702
AA Change: F126L
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
G |
T |
11: 23,466,285 (GRCm39) |
|
probably null |
Het |
| Adgrg6 |
A |
T |
10: 14,307,351 (GRCm39) |
M817K |
probably damaging |
Het |
| Adh6b |
T |
A |
3: 138,058,297 (GRCm39) |
D53E |
probably benign |
Het |
| Ap3d1 |
A |
G |
10: 80,558,755 (GRCm39) |
V283A |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,860,421 (GRCm39) |
Y1329H |
probably damaging |
Het |
| B3gnt9 |
T |
C |
8: 105,981,304 (GRCm39) |
Y28C |
probably benign |
Het |
| Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
| Chrd |
T |
A |
16: 20,557,304 (GRCm39) |
V641E |
probably damaging |
Het |
| Clvs2 |
A |
T |
10: 33,419,460 (GRCm39) |
I198N |
probably damaging |
Het |
| Cplane1 |
C |
T |
15: 8,254,851 (GRCm39) |
R13C |
unknown |
Het |
| Dbndd2 |
T |
C |
2: 164,332,136 (GRCm39) |
S120P |
probably benign |
Het |
| Dsg2 |
G |
A |
18: 20,727,291 (GRCm39) |
V613I |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,352,742 (GRCm39) |
M207V |
probably benign |
Het |
| Fignl2 |
T |
C |
15: 100,952,264 (GRCm39) |
E6G |
probably damaging |
Het |
| Fmod |
A |
G |
1: 133,968,731 (GRCm39) |
Y257C |
probably benign |
Het |
| Foxk2 |
T |
C |
11: 121,178,884 (GRCm39) |
S239P |
probably benign |
Het |
| Fstl5 |
C |
T |
3: 76,337,092 (GRCm39) |
T217I |
possibly damaging |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Gm45140 |
G |
A |
6: 87,798,511 (GRCm39) |
S34F |
|
Het |
| H2-Q6 |
A |
G |
17: 35,644,595 (GRCm39) |
E128G |
probably benign |
Het |
| Hmmr |
A |
G |
11: 40,624,156 (GRCm39) |
F11L |
probably damaging |
Het |
| Igfbpl1 |
G |
T |
4: 45,813,497 (GRCm39) |
N239K |
probably damaging |
Het |
| Itpr2 |
G |
T |
6: 146,292,363 (GRCm39) |
D443E |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,450,928 (GRCm39) |
I736F |
probably damaging |
Het |
| Kctd11 |
A |
T |
11: 69,770,416 (GRCm39) |
H207Q |
probably benign |
Het |
| Kif16b |
A |
T |
2: 142,600,746 (GRCm39) |
D462E |
probably damaging |
Het |
| Kif5a |
G |
A |
10: 127,083,948 (GRCm39) |
T81I |
probably damaging |
Het |
| Lemd2 |
C |
A |
17: 27,423,137 (GRCm39) |
A86S |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,231,948 (GRCm39) |
D1174G |
|
Het |
| Lrrc8b |
G |
T |
5: 105,629,577 (GRCm39) |
W641L |
probably damaging |
Het |
| Malt1 |
T |
C |
18: 65,595,905 (GRCm39) |
C438R |
probably damaging |
Het |
| Nalcn |
C |
A |
14: 123,723,797 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
A |
T |
1: 81,247,088 (GRCm39) |
T679S |
probably benign |
Het |
| Or52n4b |
C |
G |
7: 108,143,928 (GRCm39) |
Y65* |
probably null |
Het |
| Or5b3 |
T |
A |
19: 13,388,355 (GRCm39) |
C141S |
probably damaging |
Het |
| Otog |
C |
A |
7: 45,952,584 (GRCm39) |
P419Q |
probably damaging |
Het |
| Pabpc4 |
T |
G |
4: 123,188,413 (GRCm39) |
S341A |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,311,782 (GRCm39) |
H2006Q |
probably benign |
Het |
| Ppp2r5e |
A |
T |
12: 75,511,766 (GRCm39) |
V319D |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,391,628 (GRCm39) |
S969G |
possibly damaging |
Het |
| Rasal2 |
G |
A |
1: 157,003,406 (GRCm39) |
R436C |
probably damaging |
Het |
| Rpap1 |
A |
T |
2: 119,601,735 (GRCm39) |
F742I |
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,814,711 (GRCm39) |
T687M |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,329,746 (GRCm39) |
F7L |
|
Het |
| Slc14a2 |
A |
G |
18: 78,235,334 (GRCm39) |
I143T |
probably benign |
Het |
| Slc22a26 |
T |
A |
19: 7,762,651 (GRCm39) |
M430L |
possibly damaging |
Het |
| Smarcc1 |
C |
A |
9: 109,976,184 (GRCm39) |
T157K |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,204,991 (GRCm39) |
I375T |
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,800,302 (GRCm39) |
I609V |
possibly damaging |
Het |
| Tnk2 |
C |
A |
16: 32,498,903 (GRCm39) |
Q739K |
probably benign |
Het |
| Trio |
T |
A |
15: 27,831,480 (GRCm39) |
I1340F |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,756,029 (GRCm39) |
F91L |
probably damaging |
Het |
| Vax1 |
T |
C |
19: 59,158,416 (GRCm39) |
T16A |
unknown |
Het |
| Vps13d |
T |
G |
4: 144,881,150 (GRCm39) |
H1481P |
|
Het |
| Zbtb7a |
A |
G |
10: 80,984,269 (GRCm39) |
*570W |
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 |
|
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 |
|
R7249:Marchf8
|
UTSW |
6 |
116,383,195 (GRCm39) |
missense |
probably benign |
0.17 |
|
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'- TGCTGACAGTCACTTTTACGG -3'
(R):5'- AGACCTGAGCCATTACCATCAG -3'
Sequencing Primer
(F):5'- AATTGGCCTTCTGGTGCAGC -3'
(R):5'- TTACCATCAGAAGTAAGGCTCG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation