Incidental Mutation 'R3862:Marchf11'
| ID |
276415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marchf11
|
| Ensembl Gene |
ENSMUSG00000022269 |
| Gene Name |
membrane associated ring-CH-type finger 11 |
| Synonyms |
March11 |
| MMRRC Submission |
040903-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.296)
|
| Stock # |
R3862 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
26309134-26409662 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26387952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 269
(A269V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000140840]
[ENSMUST00000152841]
|
| AlphaFold |
Q8CBH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140840
AA Change: A269V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118729
Gene: ENSMUSG00000022269
AA Change: A269V
| 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 benign
Transcript: ENSMUST00000152841
|
| SMART Domains |
Protein: ENSMUSP00000120622
Gene: ENSMUSG00000022269
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155819
|
| Meta Mutation Damage Score |
0.1346 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (36/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc2 |
G |
A |
10: 80,143,393 (GRCm39) |
G498R |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 36,939,547 (GRCm39) |
F134I |
possibly damaging |
Het |
| Bub1 |
A |
G |
2: 127,656,676 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
C |
T |
6: 18,434,905 (GRCm39) |
V318M |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,044,522 (GRCm39) |
I825M |
possibly damaging |
Het |
| Enpp6 |
A |
G |
8: 47,519,027 (GRCm39) |
Q265R |
probably benign |
Het |
| Eri1 |
A |
G |
8: 35,958,448 (GRCm39) |
V61A |
possibly damaging |
Het |
| Evi2 |
T |
A |
11: 79,406,472 (GRCm39) |
I368F |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fkbp9 |
A |
G |
6: 56,845,890 (GRCm39) |
T409A |
probably benign |
Het |
| Gtpbp4 |
A |
G |
13: 9,040,834 (GRCm39) |
V97A |
probably damaging |
Het |
| Hapln1 |
C |
T |
13: 89,753,418 (GRCm39) |
Q195* |
probably null |
Het |
| Helt |
G |
T |
8: 46,745,315 (GRCm39) |
N189K |
probably benign |
Het |
| Hint2 |
A |
G |
4: 43,654,771 (GRCm39) |
V91A |
probably damaging |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,266 (GRCm39) |
I67T |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,146,323 (GRCm39) |
E1803G |
probably benign |
Het |
| Lrrd1 |
G |
A |
5: 3,901,248 (GRCm39) |
V518I |
probably benign |
Het |
| Mep1b |
A |
G |
18: 21,217,226 (GRCm39) |
N115S |
possibly damaging |
Het |
| Naif1 |
A |
G |
2: 32,342,637 (GRCm39) |
R63G |
probably damaging |
Het |
| Nsmaf |
A |
G |
4: 6,435,064 (GRCm39) |
I126T |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or52h7 |
G |
A |
7: 104,214,145 (GRCm39) |
R239H |
probably benign |
Het |
| Or8g53 |
T |
A |
9: 39,683,920 (GRCm39) |
M59L |
probably benign |
Het |
| Pcdhb3 |
A |
G |
18: 37,436,329 (GRCm39) |
E765G |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,562,680 (GRCm39) |
R550* |
probably null |
Het |
| Scgb2b3 |
C |
T |
7: 31,061,430 (GRCm39) |
|
probably null |
Het |
| Sgcz |
T |
C |
8: 37,990,565 (GRCm39) |
I263V |
probably benign |
Het |
| Slc15a1 |
C |
T |
14: 121,722,269 (GRCm39) |
V211I |
probably benign |
Het |
| Slc25a21 |
G |
T |
12: 56,764,920 (GRCm39) |
|
probably benign |
Het |
| Snrnp200 |
C |
A |
2: 127,075,019 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,816,722 (GRCm39) |
T437A |
probably damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,092,329 (GRCm39) |
Q479K |
possibly damaging |
Het |
| Stag1 |
T |
A |
9: 100,826,838 (GRCm39) |
V935D |
probably benign |
Het |
| Veph1 |
C |
T |
3: 66,162,313 (GRCm39) |
C115Y |
probably damaging |
Het |
| Zc3h12a |
T |
C |
4: 125,020,732 (GRCm39) |
D37G |
probably benign |
Het |
| Zfand4 |
A |
T |
6: 116,270,776 (GRCm39) |
|
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 |
|
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 |
|
R4376: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'- ACACTAAACATGTGATGTCCCC -3'
(R):5'- GCCCCAGTAATTAACCAGAAGTG -3'
Sequencing Primer
(F):5'- GGCAGAGCATTTCTATAACAC -3'
(R):5'- CCAGAAGTGAAGATAATGCATACAGC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation