Incidental Mutation 'IGL03079:Marchf11'
| ID |
417781 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Marchf11
|
| Ensembl Gene |
ENSMUSG00000022269 |
| Gene Name |
membrane associated ring-CH-type finger 11 |
| Synonyms |
March11 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.296)
|
| Stock # |
IGL03079
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
26309134-26409662 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26311144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 207
(S207P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126304]
[ENSMUST00000140840]
[ENSMUST00000152841]
|
| AlphaFold |
Q8CBH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126304
AA Change: S207P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140840
AA Change: S207P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118729
Gene: ENSMUSG00000022269
AA Change: S207P
| 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
AA Change: S207P
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000120622
Gene: ENSMUSG00000022269
AA Change: S207P
| 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 |
|
| Coding Region Coverage |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx1 |
T |
A |
10: 102,845,209 (GRCm39) |
H274L |
probably damaging |
Het |
| Arl6ip4 |
A |
T |
5: 124,254,990 (GRCm39) |
H59L |
possibly damaging |
Het |
| C1ra |
A |
G |
6: 124,496,794 (GRCm39) |
Y410C |
probably damaging |
Het |
| Ceacam11 |
A |
G |
7: 17,712,361 (GRCm39) |
N270S |
probably benign |
Het |
| Cmtr1 |
T |
A |
17: 29,882,267 (GRCm39) |
N39K |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,234,209 (GRCm39) |
D293G |
possibly damaging |
Het |
| Cyp2d11 |
T |
C |
15: 82,275,167 (GRCm39) |
E260G |
probably damaging |
Het |
| Dnajc13 |
C |
T |
9: 104,090,068 (GRCm39) |
W700* |
probably null |
Het |
| Efemp2 |
G |
T |
19: 5,525,155 (GRCm39) |
L20F |
probably damaging |
Het |
| Hars1 |
G |
A |
18: 36,903,556 (GRCm39) |
L289F |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,341,662 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
A |
T |
3: 88,020,477 (GRCm39) |
M374L |
probably benign |
Het |
| Lrig2 |
A |
T |
3: 104,398,287 (GRCm39) |
W281R |
probably damaging |
Het |
| Lyg2 |
C |
T |
1: 37,946,727 (GRCm39) |
E185K |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,532,912 (GRCm39) |
|
probably benign |
Het |
| Nipa2 |
A |
T |
7: 55,583,205 (GRCm39) |
V180E |
probably damaging |
Het |
| Or4k6 |
A |
T |
14: 50,475,581 (GRCm39) |
C254S |
possibly damaging |
Het |
| P2rx5 |
A |
G |
11: 73,055,714 (GRCm39) |
D57G |
possibly damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,997 (GRCm39) |
I1058T |
probably damaging |
Het |
| Rxfp3 |
C |
A |
15: 11,036,909 (GRCm39) |
M154I |
possibly damaging |
Het |
| Slc3a1 |
T |
A |
17: 85,367,251 (GRCm39) |
Y479* |
probably null |
Het |
| Tamalin |
T |
C |
15: 101,128,448 (GRCm39) |
V162A |
probably damaging |
Het |
| Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
| Ttll5 |
T |
C |
12: 85,923,332 (GRCm39) |
Y270H |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,382,247 (GRCm39) |
E1986G |
possibly damaging |
Het |
| Zfp719 |
A |
G |
7: 43,240,590 (GRCm39) |
Y726C |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,195,423 (GRCm39) |
E7G |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation