Incidental Mutation 'R4376:Marchf11'
| ID |
325115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marchf11
|
| Ensembl Gene |
ENSMUSG00000022269 |
| Gene Name |
membrane associated ring-CH-type finger 11 |
| Synonyms |
March11 |
| MMRRC Submission |
041120-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.296)
|
| Stock # |
R4376 (G1)
|
| Quality Score |
152 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
26309134-26409662 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26309532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 62
(E62G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126304]
[ENSMUST00000140840]
[ENSMUST00000152841]
|
| AlphaFold |
Q8CBH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126304
AA Change: E62G
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140840
AA Change: E62G
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118729
Gene: ENSMUSG00000022269
AA Change: E62G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
165 |
N/A |
INTRINSIC |
|
RINGv
|
167 |
214 |
4.81e-16 |
SMART |
|
transmembrane domain
|
244 |
266 |
N/A |
INTRINSIC |
|
Blast:AAA
|
269 |
296 |
6e-7 |
BLAST |
|
low complexity region
|
329 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152841
AA Change: E62G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120622
Gene: ENSMUSG00000022269
AA Change: E62G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
165 |
N/A |
INTRINSIC |
|
RINGv
|
167 |
214 |
4.81e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.1361 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH11 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). These enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their intracellular transport. March11 appears to have a role in ubiquitin-mediated protein sorting in the trans-Golgi network (TGN)-multivesicular body (MVB) transport pathway (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,314,238 (GRCm39) |
S683P |
probably benign |
Het |
| Adgrg6 |
G |
A |
10: 14,344,794 (GRCm39) |
T53M |
probably damaging |
Het |
| Atp10d |
T |
C |
5: 72,454,318 (GRCm39) |
L189P |
probably damaging |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Eaf2 |
A |
G |
16: 36,620,998 (GRCm39) |
L184P |
unknown |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fam83e |
A |
T |
7: 45,373,317 (GRCm39) |
S228C |
probably damaging |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,159 (GRCm39) |
I515T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,520,324 (GRCm39) |
V1929I |
probably benign |
Het |
| Mlh3 |
C |
A |
12: 85,305,972 (GRCm39) |
R1175L |
probably benign |
Het |
| Mrps2 |
T |
C |
2: 28,358,871 (GRCm39) |
S67P |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,289,576 (GRCm39) |
L312P |
possibly damaging |
Het |
| Or13f5 |
A |
T |
4: 52,826,195 (GRCm39) |
N266I |
possibly damaging |
Het |
| Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
| Pank1 |
C |
T |
19: 34,855,104 (GRCm39) |
V4I |
probably benign |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,693,891 (GRCm39) |
|
probably null |
Het |
| Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,816,448 (GRCm39) |
V1240A |
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 106,568,433 (GRCm39) |
C372* |
probably null |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
|
| Other mutations in Marchf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01618:Marchf11
|
APN |
15 |
26,409,285 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03079:Marchf11
|
APN |
15 |
26,311,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0625:Marchf11
|
UTSW |
15 |
26,311,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1055:Marchf11
|
UTSW |
15 |
26,309,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1116:Marchf11
|
UTSW |
15 |
26,409,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Marchf11
|
UTSW |
15 |
26,387,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3862:Marchf11
|
UTSW |
15 |
26,387,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3863:Marchf11
|
UTSW |
15 |
26,387,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3864:Marchf11
|
UTSW |
15 |
26,387,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4373:Marchf11
|
UTSW |
15 |
26,309,532 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4375:Marchf11
|
UTSW |
15 |
26,309,532 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4580:Marchf11
|
UTSW |
15 |
26,311,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6284:Marchf11
|
UTSW |
15 |
26,409,432 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6710:Marchf11
|
UTSW |
15 |
26,387,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Marchf11
|
UTSW |
15 |
26,311,187 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7748:Marchf11
|
UTSW |
15 |
26,387,916 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7794:Marchf11
|
UTSW |
15 |
26,409,284 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7937:Marchf11
|
UTSW |
15 |
26,409,323 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7942:Marchf11
|
UTSW |
15 |
26,409,505 (GRCm39) |
makesense |
probably null |
|
|
X0063:Marchf11
|
UTSW |
15 |
26,387,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCAGTGCTTGTTCCCAG -3'
(R):5'- ACATACGGAGCGTGTTTCGG -3'
Sequencing Primer
(F):5'- TCCACCATGAGCGACGAG -3'
(R):5'- CTGGTCTCCGGTGCCTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation