Incidental Mutation 'R7563:Marchf1'
| ID |
585261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marchf1
|
| Ensembl Gene |
ENSMUSG00000036469 |
| Gene Name |
membrane associated ring-CH-type finger 1 |
| Synonyms |
March1, 2900024D24Rik |
| MMRRC Submission |
045655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R7563 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
66070552-66924289 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66920965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 214
(Q214L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026681]
[ENSMUST00000039540]
[ENSMUST00000072482]
[ENSMUST00000098708]
[ENSMUST00000110253]
[ENSMUST00000110255]
[ENSMUST00000110256]
[ENSMUST00000110258]
[ENSMUST00000110259]
[ENSMUST00000178982]
|
| AlphaFold |
Q6NZQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026681
|
| SMART Domains |
Protein: ENSMUSP00000026681
Gene: ENSMUSG00000025591
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2962
|
10 |
162 |
1.6e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039540
AA Change: Q204L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000044070
Gene: ENSMUSG00000036469
AA Change: Q204L
| Domain | Start | End | E-Value | Type |
|---|
|
RINGv
|
69 |
117 |
2.63e-22 |
SMART |
|
transmembrane domain
|
145 |
167 |
N/A |
INTRINSIC |
|
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072482
AA Change: Q214L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072302
Gene: ENSMUSG00000036469
AA Change: Q214L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
54 |
N/A |
INTRINSIC |
|
RINGv
|
75 |
123 |
2.63e-22 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
193 |
215 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098708
AA Change: Q214L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096305
Gene: ENSMUSG00000036469
AA Change: Q214L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
58 |
N/A |
INTRINSIC |
|
RINGv
|
79 |
127 |
2.63e-22 |
SMART |
|
transmembrane domain
|
155 |
177 |
N/A |
INTRINSIC |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110253
AA Change: Q208L
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105882
Gene: ENSMUSG00000036469
AA Change: Q208L
| Domain | Start | End | E-Value | Type |
|---|
|
RINGv
|
69 |
117 |
2.63e-22 |
SMART |
|
transmembrane domain
|
145 |
167 |
N/A |
INTRINSIC |
|
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110255
AA Change: Q214L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105884
Gene: ENSMUSG00000036469
AA Change: Q214L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
58 |
N/A |
INTRINSIC |
|
RINGv
|
79 |
127 |
2.63e-22 |
SMART |
|
transmembrane domain
|
155 |
177 |
N/A |
INTRINSIC |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110256
AA Change: Q469L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105885
Gene: ENSMUSG00000036469
AA Change: Q469L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
165 |
N/A |
INTRINSIC |
|
RINGv
|
330 |
378 |
2.14e-22 |
SMART |
|
transmembrane domain
|
406 |
428 |
N/A |
INTRINSIC |
|
transmembrane domain
|
448 |
470 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110258
AA Change: Q218L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105887
Gene: ENSMUSG00000036469
AA Change: Q218L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
58 |
N/A |
INTRINSIC |
|
RINGv
|
79 |
127 |
2.63e-22 |
SMART |
|
transmembrane domain
|
155 |
177 |
N/A |
INTRINSIC |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110259
AA Change: Q214L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105888
Gene: ENSMUSG00000036469
AA Change: Q214L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
54 |
N/A |
INTRINSIC |
|
RINGv
|
75 |
123 |
2.63e-22 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
193 |
215 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178982
AA Change: Q218L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136545
Gene: ENSMUSG00000036469
AA Change: Q218L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
58 |
N/A |
INTRINSIC |
|
RINGv
|
79 |
127 |
2.63e-22 |
SMART |
|
transmembrane domain
|
155 |
177 |
N/A |
INTRINSIC |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH1 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. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal dendritic cell morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,184,464 (GRCm39) |
I98T |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,988,529 (GRCm39) |
I3271T |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,086,304 (GRCm39) |
V70I |
probably benign |
Het |
| Ap1g2 |
A |
G |
14: 55,337,206 (GRCm39) |
S710P |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,347,162 (GRCm39) |
K1064E |
probably benign |
Het |
| Capn11 |
T |
A |
17: 45,944,891 (GRCm39) |
I459F |
probably damaging |
Het |
| Ccnc |
A |
G |
4: 21,732,220 (GRCm39) |
I48V |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,904,667 (GRCm39) |
I358F |
probably benign |
Het |
| Clgn |
A |
T |
8: 84,147,185 (GRCm39) |
N379I |
probably damaging |
Het |
| Cym |
T |
C |
3: 107,121,548 (GRCm39) |
Y248C |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,666,100 (GRCm39) |
D352G |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,558,050 (GRCm39) |
|
probably null |
Het |
| Fam219a |
A |
C |
4: 41,569,208 (GRCm39) |
V10G |
probably benign |
Het |
| Fbxl5 |
C |
T |
5: 43,978,891 (GRCm39) |
V20I |
probably benign |
Het |
| Fbxl9 |
A |
G |
8: 106,042,388 (GRCm39) |
C147R |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,520,059 (GRCm39) |
E469G |
possibly damaging |
Het |
| Glt8d2 |
A |
T |
10: 82,496,659 (GRCm39) |
|
probably null |
Het |
| Grep1 |
A |
T |
17: 23,936,302 (GRCm39) |
F8L |
probably benign |
Het |
| Helt |
T |
C |
8: 46,746,630 (GRCm39) |
|
probably benign |
Het |
| Igkv8-27 |
G |
T |
6: 70,148,887 (GRCm39) |
T89K |
probably benign |
Het |
| Ipo5 |
T |
A |
14: 121,183,567 (GRCm39) |
H1048Q |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,212,464 (GRCm39) |
D28G |
probably damaging |
Het |
| Kcnh4 |
G |
A |
11: 100,632,680 (GRCm39) |
P936S |
probably benign |
Het |
| Klrd1 |
A |
G |
6: 129,570,701 (GRCm39) |
I37M |
possibly damaging |
Het |
| Kmt2e |
T |
C |
5: 23,705,271 (GRCm39) |
V1267A |
probably damaging |
Het |
| Mlip |
G |
T |
9: 77,020,279 (GRCm39) |
H52N |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,927,021 (GRCm39) |
R229G |
probably benign |
Het |
| Ogfr |
T |
A |
2: 180,234,300 (GRCm39) |
|
probably null |
Het |
| Or4g16 |
T |
C |
2: 111,137,134 (GRCm39) |
F195L |
probably benign |
Het |
| Or5m10 |
T |
A |
2: 85,717,482 (GRCm39) |
Y113N |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 110,087,541 (GRCm39) |
I636T |
probably benign |
Het |
| Pex5l |
C |
T |
3: 33,008,625 (GRCm39) |
V426I |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,252,006 (GRCm39) |
K384E |
possibly damaging |
Het |
| Pramel22 |
A |
T |
4: 143,380,675 (GRCm39) |
Y449* |
probably null |
Het |
| Prl6a1 |
T |
G |
13: 27,498,221 (GRCm39) |
|
probably null |
Het |
| Prss23 |
A |
T |
7: 89,159,038 (GRCm39) |
W344R |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,697,680 (GRCm39) |
D397E |
probably benign |
Het |
| Qrsl1 |
G |
A |
10: 43,752,513 (GRCm39) |
R437C |
probably damaging |
Het |
| Rab6a |
G |
T |
7: 100,257,404 (GRCm39) |
|
probably benign |
Het |
| Samd14 |
C |
A |
11: 94,912,239 (GRCm39) |
S205R |
probably benign |
Het |
| Sel1l3 |
T |
C |
5: 53,343,326 (GRCm39) |
Y322C |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,940,480 (GRCm39) |
L669I |
probably benign |
Het |
| Ssc4d |
A |
G |
5: 135,991,887 (GRCm39) |
L419P |
probably damaging |
Het |
| Tbc1d2b |
A |
T |
9: 90,101,063 (GRCm39) |
Y642* |
probably null |
Het |
| Tbc1d2b |
A |
C |
9: 90,108,301 (GRCm39) |
F417V |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,907,005 (GRCm39) |
D212G |
probably damaging |
Het |
| Trim39 |
A |
T |
17: 36,571,807 (GRCm39) |
V317E |
probably damaging |
Het |
| Uncx |
G |
A |
5: 139,530,261 (GRCm39) |
R113H |
probably damaging |
Het |
| Usp4 |
A |
G |
9: 108,256,543 (GRCm39) |
S655G |
probably benign |
Het |
| Vmn2r114 |
C |
T |
17: 23,510,000 (GRCm39) |
V827I |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,200 (GRCm39) |
N349I |
probably benign |
Het |
| Vmn2r3 |
A |
G |
3: 64,182,770 (GRCm39) |
W310R |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,245 (GRCm39) |
W829R |
probably damaging |
Het |
| Zfp574 |
C |
A |
7: 24,780,777 (GRCm39) |
H600N |
possibly damaging |
Het |
|
| Other mutations in Marchf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01105:Marchf1
|
APN |
8 |
66,871,529 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02468:Marchf1
|
APN |
8 |
66,871,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Marchf1
|
UTSW |
8 |
66,871,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1500:Marchf1
|
UTSW |
8 |
66,921,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Marchf1
|
UTSW |
8 |
66,839,594 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2015:Marchf1
|
UTSW |
8 |
66,574,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2184:Marchf1
|
UTSW |
8 |
66,840,075 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2273:Marchf1
|
UTSW |
8 |
66,840,151 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2274:Marchf1
|
UTSW |
8 |
66,840,151 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2275:Marchf1
|
UTSW |
8 |
66,840,151 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2314:Marchf1
|
UTSW |
8 |
66,574,442 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R3114:Marchf1
|
UTSW |
8 |
66,840,033 (GRCm39) |
missense |
probably benign |
|
|
R4458:Marchf1
|
UTSW |
8 |
66,908,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:Marchf1
|
UTSW |
8 |
66,839,071 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4773:Marchf1
|
UTSW |
8 |
66,839,876 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4838:Marchf1
|
UTSW |
8 |
66,921,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Marchf1
|
UTSW |
8 |
66,839,020 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5507:Marchf1
|
UTSW |
8 |
66,871,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5575:Marchf1
|
UTSW |
8 |
66,920,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5916:Marchf1
|
UTSW |
8 |
66,839,763 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6931:Marchf1
|
UTSW |
8 |
66,921,144 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7350:Marchf1
|
UTSW |
8 |
66,921,051 (GRCm39) |
nonsense |
probably null |
|
|
R7487:Marchf1
|
UTSW |
8 |
66,908,726 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7531:Marchf1
|
UTSW |
8 |
66,838,989 (GRCm39) |
missense |
probably benign |
|
|
R7705:Marchf1
|
UTSW |
8 |
66,921,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8142:Marchf1
|
UTSW |
8 |
66,908,778 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8337:Marchf1
|
UTSW |
8 |
66,871,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8712:Marchf1
|
UTSW |
8 |
66,921,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Marchf1
|
UTSW |
8 |
66,908,803 (GRCm39) |
nonsense |
probably null |
|
|
R9372:Marchf1
|
UTSW |
8 |
66,921,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9477:Marchf1
|
UTSW |
8 |
66,871,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9790:Marchf1
|
UTSW |
8 |
66,729,339 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9791:Marchf1
|
UTSW |
8 |
66,729,339 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTAACATGGTTCAGGGAAGC -3'
(R):5'- TATAACCTCAGGTGGGGCTC -3'
Sequencing Primer
(F):5'- TTCAGGGAAGCAAGTGTACTC -3'
(R):5'- CAGTTGGCAGTGTATTTGAACC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation