Incidental Mutation 'R5541:Marchf10'
| ID |
435980 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marchf10
|
| Ensembl Gene |
ENSMUSG00000078627 |
| Gene Name |
membrane associated ring-CH-type finger 10 |
| Synonyms |
Rnf190, 4933417C16Rik, OTTMUSG00000002847, March10 |
| MMRRC Submission |
043099-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R5541 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
105251624-105347561 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 105280957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 443
(D443N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049995]
[ENSMUST00000138977]
|
| AlphaFold |
E9PX79 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049995
AA Change: D443N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000063198
Gene: ENSMUSG00000078627
AA Change: D443N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
304 |
N/A |
INTRINSIC |
|
RINGv
|
638 |
695 |
7.45e-22 |
SMART |
|
low complexity region
|
728 |
737 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
781 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138977
AA Change: D443N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121919
Gene: ENSMUSG00000078627
AA Change: D443N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
304 |
N/A |
INTRINSIC |
|
RINGv
|
638 |
695 |
7.45e-22 |
SMART |
|
low complexity region
|
728 |
737 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
781 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153672
|
| Meta Mutation Damage Score |
0.5176 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (63/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH10 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 (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
G |
10: 87,061,808 (GRCm39) |
K86R |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,241,545 (GRCm39) |
V1136A |
probably benign |
Het |
| Arfgap2 |
G |
A |
2: 91,106,114 (GRCm39) |
R530H |
probably benign |
Het |
| Arhgap30 |
T |
C |
1: 171,231,707 (GRCm39) |
|
probably null |
Het |
| Asb7 |
T |
C |
7: 66,329,017 (GRCm39) |
R8G |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,949,276 (GRCm39) |
N2949D |
probably benign |
Het |
| Ccdc86 |
T |
C |
19: 10,925,918 (GRCm39) |
E227G |
probably damaging |
Het |
| Cercam |
A |
G |
2: 29,765,641 (GRCm39) |
D261G |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,778,132 (GRCm39) |
E2714D |
probably benign |
Het |
| Dcp1a |
T |
A |
14: 30,224,796 (GRCm39) |
S126R |
probably damaging |
Het |
| Defa17 |
T |
A |
8: 22,146,565 (GRCm39) |
C64S |
probably damaging |
Het |
| Depdc5 |
A |
T |
5: 33,021,973 (GRCm39) |
|
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,076,908 (GRCm39) |
N259S |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,169,971 (GRCm39) |
L323Q |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 66,036,162 (GRCm39) |
Y416C |
probably damaging |
Het |
| Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
| Fbxw15 |
T |
G |
9: 109,394,498 (GRCm39) |
I106L |
probably benign |
Het |
| Flacc1 |
A |
G |
1: 58,697,588 (GRCm39) |
M384T |
probably benign |
Het |
| Gm10610 |
A |
G |
7: 83,198,614 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr22 |
A |
G |
12: 31,759,348 (GRCm39) |
F258S |
probably damaging |
Het |
| Grip1 |
A |
T |
10: 119,908,623 (GRCm39) |
I618F |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,247,862 (GRCm39) |
T1233I |
probably damaging |
Het |
| Hspg2 |
C |
A |
4: 137,270,136 (GRCm39) |
Q2365K |
probably benign |
Het |
| Intu |
A |
G |
3: 40,647,017 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
T |
C |
13: 47,232,672 (GRCm39) |
M714T |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,852,316 (GRCm39) |
M924T |
probably damaging |
Het |
| Klb |
A |
T |
5: 65,536,577 (GRCm39) |
M636L |
probably benign |
Het |
| Klrb1a |
G |
A |
6: 128,586,699 (GRCm39) |
H219Y |
probably benign |
Het |
| Macroh2a2 |
T |
C |
10: 61,583,496 (GRCm39) |
I215V |
probably benign |
Het |
| Nos1 |
A |
G |
5: 118,043,459 (GRCm39) |
E578G |
probably damaging |
Het |
| Or8b39 |
T |
C |
9: 37,996,419 (GRCm39) |
C96R |
probably damaging |
Het |
| Or9i1 |
T |
C |
19: 13,839,328 (GRCm39) |
I57T |
probably benign |
Het |
| Pard3b |
A |
G |
1: 61,678,502 (GRCm39) |
Y34C |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,856 (GRCm39) |
V441E |
probably damaging |
Het |
| Pde6g |
A |
T |
11: 120,338,998 (GRCm39) |
I64N |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,773,571 (GRCm39) |
V593M |
probably damaging |
Het |
| Pnn |
T |
G |
12: 59,118,716 (GRCm39) |
V433G |
possibly damaging |
Het |
| Rbak |
G |
A |
5: 143,159,745 (GRCm39) |
S436F |
probably damaging |
Het |
| Rpl11 |
A |
G |
4: 135,780,043 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,785,610 (GRCm39) |
Q1701K |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,154,977 (GRCm39) |
T661S |
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,756,386 (GRCm39) |
|
probably benign |
Het |
| St8sia2 |
T |
C |
7: 73,616,648 (GRCm39) |
D109G |
probably benign |
Het |
| Stk-ps1 |
T |
A |
17: 36,709,105 (GRCm39) |
|
noncoding transcript |
Het |
| Stxbp3-ps |
C |
T |
19: 9,535,334 (GRCm39) |
|
noncoding transcript |
Het |
| Taf1d |
T |
A |
9: 15,220,146 (GRCm39) |
F132I |
probably damaging |
Het |
| Tfap2b |
A |
G |
1: 19,284,250 (GRCm39) |
S35G |
possibly damaging |
Het |
| Tnk2 |
C |
T |
16: 32,488,341 (GRCm39) |
T198I |
probably benign |
Het |
| Trappc2b |
T |
C |
11: 51,576,796 (GRCm39) |
H34R |
probably benign |
Het |
| Ube2q2 |
T |
A |
9: 55,099,163 (GRCm39) |
V168E |
possibly damaging |
Het |
| Ucma |
A |
G |
2: 4,986,141 (GRCm39) |
R105G |
probably benign |
Het |
| Vmn2r97 |
C |
T |
17: 19,148,617 (GRCm39) |
Q171* |
probably null |
Het |
| Wapl |
T |
C |
14: 34,452,619 (GRCm39) |
|
probably null |
Het |
| Zfand4 |
T |
A |
6: 116,291,256 (GRCm39) |
C397S |
possibly damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,675,583 (GRCm39) |
N2211S |
probably damaging |
Het |
| Zfp143 |
G |
T |
7: 109,669,687 (GRCm39) |
G39C |
probably benign |
Het |
| Zfp568 |
T |
A |
7: 29,722,301 (GRCm39) |
D414E |
possibly damaging |
Het |
| Zfp574 |
C |
T |
7: 24,781,375 (GRCm39) |
A799V |
probably damaging |
Het |
|
| Other mutations in Marchf10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Marchf10
|
APN |
11 |
105,293,014 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01461:Marchf10
|
APN |
11 |
105,280,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01473:Marchf10
|
APN |
11 |
105,280,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Forward
|
UTSW |
11 |
105,273,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Marchf10
|
UTSW |
11 |
105,281,346 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0195:Marchf10
|
UTSW |
11 |
105,276,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0520:Marchf10
|
UTSW |
11 |
105,280,708 (GRCm39) |
missense |
probably benign |
|
|
R0628:Marchf10
|
UTSW |
11 |
105,280,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1087:Marchf10
|
UTSW |
11 |
105,281,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1440:Marchf10
|
UTSW |
11 |
105,281,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1802:Marchf10
|
UTSW |
11 |
105,280,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1855:Marchf10
|
UTSW |
11 |
105,281,218 (GRCm39) |
missense |
probably benign |
|
|
R1860:Marchf10
|
UTSW |
11 |
105,287,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2504:Marchf10
|
UTSW |
11 |
105,276,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3788:Marchf10
|
UTSW |
11 |
105,287,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4629:Marchf10
|
UTSW |
11 |
105,280,664 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4755:Marchf10
|
UTSW |
11 |
105,255,302 (GRCm39) |
intron |
probably benign |
|
|
R4776:Marchf10
|
UTSW |
11 |
105,280,863 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5067:Marchf10
|
UTSW |
11 |
105,280,933 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5192:Marchf10
|
UTSW |
11 |
105,262,752 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5436:Marchf10
|
UTSW |
11 |
105,292,991 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5888:Marchf10
|
UTSW |
11 |
105,292,972 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5908:Marchf10
|
UTSW |
11 |
105,281,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5914:Marchf10
|
UTSW |
11 |
105,276,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6038:Marchf10
|
UTSW |
11 |
105,292,877 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6178:Marchf10
|
UTSW |
11 |
105,280,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6300:Marchf10
|
UTSW |
11 |
105,273,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6612:Marchf10
|
UTSW |
11 |
105,287,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6894:Marchf10
|
UTSW |
11 |
105,287,787 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6921:Marchf10
|
UTSW |
11 |
105,280,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7134:Marchf10
|
UTSW |
11 |
105,299,502 (GRCm39) |
missense |
probably benign |
|
|
R7199:Marchf10
|
UTSW |
11 |
105,281,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7546:Marchf10
|
UTSW |
11 |
105,280,906 (GRCm39) |
missense |
not run |
|
|
R7792:Marchf10
|
UTSW |
11 |
105,281,054 (GRCm39) |
missense |
probably benign |
|
|
R8241:Marchf10
|
UTSW |
11 |
105,280,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8467:Marchf10
|
UTSW |
11 |
105,280,979 (GRCm39) |
nonsense |
probably null |
|
|
R8843:Marchf10
|
UTSW |
11 |
105,292,802 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8962:Marchf10
|
UTSW |
11 |
105,280,815 (GRCm39) |
nonsense |
probably null |
|
|
R9214:Marchf10
|
UTSW |
11 |
105,281,100 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9323:Marchf10
|
UTSW |
11 |
105,280,581 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1088:Marchf10
|
UTSW |
11 |
105,281,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCGGCGTACATTAAAC -3'
(R):5'- GCTCCAAGATACCAGGTTACCC -3'
Sequencing Primer
(F):5'- GCCGGCGTACATTAAACCTTAGG -3'
(R):5'- ATACCAGGTTACCCAGTGAGTTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation