Incidental Mutation 'R6710:Marchf11'
ID |
529102 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Marchf11
|
Ensembl Gene |
ENSMUSG00000022269 |
Gene Name |
membrane associated ring-CH-type finger 11 |
Synonyms |
March11 |
MMRRC Submission |
044828-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.296)
|
Stock # |
R6710 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
26309134-26409662 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26387949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 268
(Y268C)
|
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: Y268C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118729 Gene: ENSMUSG00000022269 AA Change: Y268C
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
G |
T |
10: 87,061,923 (GRCm39) |
E124D |
probably benign |
Het |
Aph1c |
T |
C |
9: 66,741,802 (GRCm39) |
T27A |
probably benign |
Het |
Ash2l |
T |
C |
8: 26,309,740 (GRCm39) |
I507V |
possibly damaging |
Het |
Cela2a |
C |
A |
4: 141,549,554 (GRCm39) |
A74S |
probably damaging |
Het |
Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
Drc1 |
A |
G |
5: 30,520,429 (GRCm39) |
D590G |
possibly damaging |
Het |
Epn1 |
A |
G |
7: 5,100,303 (GRCm39) |
E472G |
probably damaging |
Het |
Erfe |
A |
G |
1: 91,300,128 (GRCm39) |
D318G |
probably damaging |
Het |
Ifnar2 |
T |
C |
16: 91,190,771 (GRCm39) |
C227R |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,553,366 (GRCm39) |
I4309N |
possibly damaging |
Het |
Nit2 |
A |
G |
16: 56,980,493 (GRCm39) |
V95A |
possibly damaging |
Het |
Nup205 |
T |
G |
6: 35,224,308 (GRCm39) |
I2049S |
probably benign |
Het |
Or2h1 |
T |
G |
17: 37,404,638 (GRCm39) |
I43L |
probably damaging |
Het |
Or7e175 |
C |
T |
9: 20,049,378 (GRCm39) |
A322V |
probably benign |
Het |
Pcdhb17 |
T |
C |
18: 37,618,452 (GRCm39) |
S81P |
probably damaging |
Het |
Plcg2 |
A |
G |
8: 118,284,086 (GRCm39) |
I128V |
probably benign |
Het |
Sem1 |
C |
A |
6: 6,578,497 (GRCm39) |
E20* |
probably null |
Het |
Tap1 |
C |
T |
17: 34,407,083 (GRCm39) |
A77V |
possibly damaging |
Het |
Tmem26 |
T |
C |
10: 68,559,884 (GRCm39) |
L52P |
probably damaging |
Het |
Utp3 |
T |
C |
5: 88,703,823 (GRCm39) |
Y451H |
probably damaging |
Het |
Vmn2r103 |
T |
A |
17: 20,032,239 (GRCm39) |
I671N |
probably damaging |
Het |
Zbtb39 |
T |
A |
10: 127,579,505 (GRCm39) |
I693N |
probably damaging |
Het |
Zfp174 |
A |
G |
16: 3,665,921 (GRCm39) |
E62G |
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 |
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 |
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 |
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'- CCCAGTAATTAACCAGAAGTGAAG -3'
Sequencing Primer
(F):5'- AGTGGCAGAGCATTTCT -3'
(R):5'- CCAGAAGTGAAGATAATGCATACAGC -3'
|
Posted On |
2018-07-24 |