Incidental Mutation 'R2865:Marchf4'
| ID |
253134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marchf4
|
| Ensembl Gene |
ENSMUSG00000039372 |
| Gene Name |
membrane associated ring-CH-type finger 4 |
| Synonyms |
March4 |
| MMRRC Submission |
040454-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R2865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
72466271-72576089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72491734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 179
(R179H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047786]
|
| AlphaFold |
Q80TE3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047786
AA Change: R179H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042803
Gene: ENSMUSG00000039372
AA Change: R179H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
135 |
N/A |
INTRINSIC |
|
RINGv
|
161 |
208 |
3.5e-18 |
SMART |
|
transmembrane domain
|
235 |
257 |
N/A |
INTRINSIC |
|
Blast:AAA
|
263 |
290 |
4e-9 |
BLAST |
|
low complexity region
|
344 |
360 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2397 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (30/30) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH4 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH4 reduces surface accumulation of several membrane glycoproteins by directing them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
A |
G |
8: 12,329,635 (GRCm39) |
Q30R |
unknown |
Het |
| Bmper |
A |
G |
9: 23,395,237 (GRCm39) |
N656S |
probably benign |
Het |
| Cic |
T |
A |
7: 24,972,646 (GRCm39) |
D792E |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,537,343 (GRCm39) |
C192Y |
probably benign |
Het |
| Ddx6 |
G |
T |
9: 44,525,553 (GRCm39) |
L103F |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,059,543 (GRCm39) |
K714R |
probably null |
Het |
| Flt1 |
T |
C |
5: 147,531,431 (GRCm39) |
Q844R |
possibly damaging |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Fxr2 |
T |
A |
11: 69,530,253 (GRCm39) |
I40N |
probably damaging |
Het |
| Gm7168 |
A |
G |
17: 14,170,117 (GRCm39) |
K495E |
probably benign |
Het |
| Gria2 |
C |
T |
3: 80,639,392 (GRCm39) |
V207I |
probably benign |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,905,611 (GRCm39) |
H2240R |
probably damaging |
Het |
| Ighv8-9 |
G |
A |
12: 115,432,066 (GRCm39) |
P82S |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,310,525 (GRCm39) |
V436A |
probably benign |
Het |
| Ldb3 |
T |
G |
14: 34,251,460 (GRCm39) |
D609A |
probably damaging |
Het |
| Lgalsl2 |
G |
T |
7: 5,362,668 (GRCm39) |
D100Y |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,485,335 (GRCm39) |
Q112K |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,960,788 (GRCm39) |
T75A |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,198 (GRCm39) |
D34V |
probably benign |
Het |
| Or8h10 |
A |
T |
2: 86,808,805 (GRCm39) |
C112S |
possibly damaging |
Het |
| Parp4 |
C |
T |
14: 56,851,181 (GRCm39) |
T728M |
probably damaging |
Het |
| Ppp1r10 |
A |
G |
17: 36,239,384 (GRCm39) |
T398A |
possibly damaging |
Het |
| Ppp4c |
A |
T |
7: 126,391,272 (GRCm39) |
I20N |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,085,990 (GRCm39) |
G482D |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,991,765 (GRCm39) |
F388I |
probably benign |
Het |
| Slc12a6 |
G |
A |
2: 112,177,662 (GRCm39) |
V594I |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,836,942 (GRCm39) |
S134F |
probably damaging |
Het |
| Tead4 |
A |
T |
6: 128,225,062 (GRCm39) |
|
probably null |
Het |
| Usp40 |
G |
A |
1: 87,877,701 (GRCm39) |
Q1152* |
probably null |
Het |
|
| Other mutations in Marchf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01631:Marchf4
|
APN |
1 |
72,491,690 (GRCm39) |
nonsense |
probably null |
|
|
IGL02996:Marchf4
|
APN |
1 |
72,468,058 (GRCm39) |
nonsense |
probably null |
|
|
R0245:Marchf4
|
UTSW |
1 |
72,573,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4386:Marchf4
|
UTSW |
1 |
72,467,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4917:Marchf4
|
UTSW |
1 |
72,467,938 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4918:Marchf4
|
UTSW |
1 |
72,467,938 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5812:Marchf4
|
UTSW |
1 |
72,468,076 (GRCm39) |
missense |
probably benign |
|
|
R6266:Marchf4
|
UTSW |
1 |
72,491,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7247:Marchf4
|
UTSW |
1 |
72,491,637 (GRCm39) |
nonsense |
probably null |
|
|
R7619:Marchf4
|
UTSW |
1 |
72,574,148 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7643:Marchf4
|
UTSW |
1 |
72,486,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8176:Marchf4
|
UTSW |
1 |
72,573,998 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8928:Marchf4
|
UTSW |
1 |
72,574,035 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Marchf4
|
UTSW |
1 |
72,491,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Marchf4
|
UTSW |
1 |
72,468,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAAGCTGCCCTGAATTTG -3'
(R):5'- GTGCCTCCAGACAATATTTGTG -3'
Sequencing Primer
(F):5'- GAGGTTTGGTAATTCCCCTACC -3'
(R):5'- TACCTATCTATCACCTGCGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation