Incidental Mutation 'R0990:Marchf3'
| ID |
97676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marchf3
|
| Ensembl Gene |
ENSMUSG00000032656 |
| Gene Name |
membrane associated ring-CH-type finger 3 |
| Synonyms |
March3, A530081L18Rik, 6330411I15Rik |
| MMRRC Submission |
039110-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R0990 (G1)
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
56894788-57058587 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56940870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 87
(C87S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035278]
[ENSMUST00000102912]
|
| AlphaFold |
Q8BRX9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035278
AA Change: C87S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047946
Gene: ENSMUSG00000032656
AA Change: C87S
| Domain | Start | End | E-Value | Type |
|---|
|
RINGv
|
70 |
117 |
1.02e-19 |
SMART |
|
transmembrane domain
|
145 |
167 |
N/A |
INTRINSIC |
|
transmembrane domain
|
182 |
204 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102912
AA Change: C87S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099976
Gene: ENSMUSG00000032656
AA Change: C87S
| Domain | Start | End | E-Value | Type |
|---|
|
RINGv
|
70 |
117 |
1.02e-19 |
SMART |
|
transmembrane domain
|
145 |
167 |
N/A |
INTRINSIC |
|
transmembrane domain
|
182 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153044
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.1%
- 20x: 86.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-associated RING-CH (MARCH) family. The encoded protein is an E3 ubiquitin-protein ligase that may be involved in regulation of the endosomal transport pathway. [provided by RefSeq, Mar 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
T |
C |
8: 89,052,080 (GRCm39) |
V916A |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,728,315 (GRCm39) |
I759M |
possibly damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,166,677 (GRCm39) |
D438G |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,883,677 (GRCm39) |
Y1285C |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,960,678 (GRCm39) |
V764A |
possibly damaging |
Het |
| Cog8 |
T |
A |
8: 107,779,119 (GRCm39) |
|
probably null |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fbxo24 |
T |
C |
5: 137,616,701 (GRCm39) |
N394S |
probably damaging |
Het |
| Gm9938 |
A |
G |
19: 23,701,956 (GRCm39) |
|
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,050,824 (GRCm39) |
F422L |
probably damaging |
Het |
| Mettl2 |
T |
A |
11: 105,028,570 (GRCm39) |
Y307* |
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,314,539 (GRCm39) |
D549G |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,752,722 (GRCm38) |
T867A |
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,119,232 (GRCm39) |
T1852S |
probably benign |
Het |
| Or5aq1 |
T |
A |
2: 86,966,086 (GRCm39) |
H193L |
possibly damaging |
Het |
| Pdk4 |
A |
T |
6: 5,485,577 (GRCm39) |
S371T |
probably benign |
Het |
| Pkm |
A |
G |
9: 59,585,379 (GRCm39) |
T454A |
probably damaging |
Het |
| Satb2 |
G |
A |
1: 56,889,343 (GRCm39) |
S340F |
probably damaging |
Het |
| Scel |
G |
A |
14: 103,819,268 (GRCm39) |
V354I |
possibly damaging |
Het |
| Setdb1 |
T |
C |
3: 95,247,576 (GRCm39) |
T440A |
probably benign |
Het |
| Sgk1 |
T |
C |
10: 21,872,985 (GRCm39) |
F230S |
probably damaging |
Het |
| Slc22a23 |
A |
T |
13: 34,379,450 (GRCm39) |
I439N |
probably damaging |
Het |
| Slc9a5 |
G |
A |
8: 106,086,078 (GRCm39) |
R615Q |
probably damaging |
Het |
| Smad1 |
T |
A |
8: 80,070,417 (GRCm39) |
I374F |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,875,576 (GRCm39) |
E143G |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,429 (GRCm39) |
S797P |
probably benign |
Het |
|
| Other mutations in Marchf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02029:Marchf3
|
APN |
18 |
56,940,753 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0625:Marchf3
|
UTSW |
18 |
56,944,902 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1353:Marchf3
|
UTSW |
18 |
56,909,177 (GRCm39) |
splice site |
probably null |
|
|
R1653:Marchf3
|
UTSW |
18 |
56,944,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2072:Marchf3
|
UTSW |
18 |
56,944,925 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4746:Marchf3
|
UTSW |
18 |
56,909,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Marchf3
|
UTSW |
18 |
56,916,170 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6956:Marchf3
|
UTSW |
18 |
56,909,053 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7152:Marchf3
|
UTSW |
18 |
56,909,053 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7202:Marchf3
|
UTSW |
18 |
56,909,161 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7272:Marchf3
|
UTSW |
18 |
56,895,593 (GRCm39) |
missense |
probably benign |
|
|
R7813:Marchf3
|
UTSW |
18 |
56,916,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACTTACTGACCTCCACTAACGG -3'
(R):5'- AAGACACCATGAGTCAGCAGTGCC -3'
Sequencing Primer
(F):5'- CCTCCACTAACGGCCTGG -3'
(R):5'- AAGCAGTTTGTATTCTGAGCAGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation