Incidental Mutation 'R4349:Marchf7'
| ID |
328427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marchf7
|
| Ensembl Gene |
ENSMUSG00000026977 |
| Gene Name |
membrane associated ring-CH-type finger 7 |
| Synonyms |
March7, Gtrgeo17, Axot |
| MMRRC Submission |
041104-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R4349 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
60040086-60079555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60064539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 272
(S272P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067542]
[ENSMUST00000102747]
[ENSMUST00000102748]
|
| AlphaFold |
Q9WV66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067542
AA Change: S272P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000068961
Gene: ENSMUSG00000026977
AA Change: S272P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
463 |
N/A |
INTRINSIC |
|
RINGv
|
553 |
610 |
2.11e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102747
AA Change: S272P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000099808
Gene: ENSMUSG00000026977
AA Change: S272P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
463 |
N/A |
INTRINSIC |
|
RINGv
|
553 |
610 |
2.11e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102748
AA Change: S272P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000099809
Gene: ENSMUSG00000026977
AA Change: S272P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
463 |
N/A |
INTRINSIC |
|
RINGv
|
553 |
610 |
2.11e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131813
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134905
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142485
|
| SMART Domains |
Protein: ENSMUSP00000116925
Gene: ENSMUSG00000026977
| Domain | Start | End | E-Value | Type |
|---|
|
RINGv
|
15 |
72 |
2.11e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143806
|
| Meta Mutation Damage Score |
0.0599 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH7 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar 2010]
PHENOTYPE: Homozygous null mice show premature neural degeneration and defective development of the corpus callosum. Both T cell proliferation and T cell-derived leukaemia inhibitory factor are increased. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
G |
T |
1: 155,562,827 (GRCm39) |
R276L |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,150,027 (GRCm39) |
R103Q |
probably damaging |
Het |
| Cd101 |
G |
A |
3: 100,920,630 (GRCm39) |
T423M |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,176,312 (GRCm39) |
E801G |
probably damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Enam |
T |
C |
5: 88,651,407 (GRCm39) |
L972P |
probably damaging |
Het |
| Espl1 |
C |
A |
15: 102,228,039 (GRCm39) |
T1630N |
probably benign |
Het |
| Fra10ac1 |
A |
G |
19: 38,188,053 (GRCm39) |
S248P |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,754,431 (GRCm39) |
R385G |
probably damaging |
Het |
| Gtpbp8 |
T |
A |
16: 44,566,560 (GRCm39) |
|
probably null |
Het |
| Kif23 |
C |
T |
9: 61,839,396 (GRCm39) |
V284M |
probably damaging |
Het |
| Klhdc7a |
A |
G |
4: 139,693,588 (GRCm39) |
V453A |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,122,926 (GRCm39) |
V517M |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Milr1 |
T |
C |
11: 106,654,708 (GRCm39) |
S84P |
possibly damaging |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Or12j5 |
A |
T |
7: 140,084,270 (GRCm39) |
L34* |
probably null |
Het |
| Otog |
A |
T |
7: 45,923,613 (GRCm39) |
Q1082L |
probably damaging |
Het |
| Pacsin1 |
G |
A |
17: 27,925,978 (GRCm39) |
V107I |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,392,127 (GRCm39) |
T348A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rbm25 |
A |
G |
12: 83,721,947 (GRCm39) |
D711G |
probably damaging |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Sec24a |
G |
T |
11: 51,605,976 (GRCm39) |
Q692K |
probably benign |
Het |
| Sidt2 |
C |
T |
9: 45,857,011 (GRCm39) |
D205N |
possibly damaging |
Het |
| Skint10 |
T |
C |
4: 112,626,968 (GRCm39) |
*113W |
probably null |
Het |
| Tet3 |
T |
C |
6: 83,380,257 (GRCm39) |
E637G |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,464,605 (GRCm39) |
I562F |
probably benign |
Het |
| Zfp593 |
T |
C |
4: 133,972,367 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,276,552 (GRCm39) |
C557S |
probably damaging |
Het |
|
| Other mutations in Marchf7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01761:Marchf7
|
APN |
2 |
60,064,539 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02001:Marchf7
|
APN |
2 |
60,065,235 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02927:Marchf7
|
APN |
2 |
60,067,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4687001:Marchf7
|
UTSW |
2 |
60,062,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Marchf7
|
UTSW |
2 |
60,064,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1722:Marchf7
|
UTSW |
2 |
60,064,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1755:Marchf7
|
UTSW |
2 |
60,065,265 (GRCm39) |
missense |
probably benign |
|
|
R1759:Marchf7
|
UTSW |
2 |
60,064,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Marchf7
|
UTSW |
2 |
60,062,637 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2018:Marchf7
|
UTSW |
2 |
60,059,384 (GRCm39) |
nonsense |
probably null |
|
|
R2226:Marchf7
|
UTSW |
2 |
60,060,190 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2227:Marchf7
|
UTSW |
2 |
60,060,190 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2471:Marchf7
|
UTSW |
2 |
60,067,244 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3724:Marchf7
|
UTSW |
2 |
60,060,089 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4667:Marchf7
|
UTSW |
2 |
60,071,394 (GRCm39) |
nonsense |
probably null |
|
|
R5365:Marchf7
|
UTSW |
2 |
60,064,258 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5524:Marchf7
|
UTSW |
2 |
60,075,647 (GRCm39) |
intron |
probably benign |
|
|
R5860:Marchf7
|
UTSW |
2 |
60,067,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5883:Marchf7
|
UTSW |
2 |
60,064,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5945:Marchf7
|
UTSW |
2 |
60,071,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5992:Marchf7
|
UTSW |
2 |
60,075,564 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6937:Marchf7
|
UTSW |
2 |
60,071,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Marchf7
|
UTSW |
2 |
60,064,587 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6992:Marchf7
|
UTSW |
2 |
60,059,428 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7337:Marchf7
|
UTSW |
2 |
60,071,189 (GRCm39) |
splice site |
probably null |
|
|
R7448:Marchf7
|
UTSW |
2 |
60,077,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7577:Marchf7
|
UTSW |
2 |
60,060,048 (GRCm39) |
nonsense |
probably null |
|
|
R7712:Marchf7
|
UTSW |
2 |
60,065,334 (GRCm39) |
nonsense |
probably null |
|
|
R7863:Marchf7
|
UTSW |
2 |
60,071,366 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8281:Marchf7
|
UTSW |
2 |
60,064,873 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8469:Marchf7
|
UTSW |
2 |
60,064,670 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8745:Marchf7
|
UTSW |
2 |
60,067,153 (GRCm39) |
nonsense |
probably null |
|
|
R8794:Marchf7
|
UTSW |
2 |
60,074,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9711:Marchf7
|
UTSW |
2 |
60,060,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Marchf7
|
UTSW |
2 |
60,064,785 (GRCm39) |
nonsense |
probably null |
|
|
R9773:Marchf7
|
UTSW |
2 |
60,064,785 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTTCTAGGGACTCCAGTAG -3'
(R):5'- AATCCCTGAGATGCTTCAGCTG -3'
Sequencing Primer
(F):5'- TCTAGGGACTCCAGTAGAAGTTC -3'
(R):5'- CGAGGAGGTTCCATTATTCCGAGAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation