Incidental Mutation 'R3715:Marchf6'
| ID |
259873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marchf6
|
| Ensembl Gene |
ENSMUSG00000039100 |
| Gene Name |
membrane associated ring-CH-type finger 6 |
| Synonyms |
March6, F830029L24Rik |
| MMRRC Submission |
040708-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.374)
|
| Stock # |
R3715 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
31456045-31531172 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31465405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 833
(L833P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090227]
|
| AlphaFold |
Q6ZQ89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090227
AA Change: L833P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100
AA Change: L833P
| Domain | Start | End | E-Value | Type |
|---|
|
RINGv
|
8 |
56 |
1.13e-21 |
SMART |
|
transmembrane domain
|
92 |
114 |
N/A |
INTRINSIC |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
259 |
N/A |
INTRINSIC |
|
transmembrane domain
|
290 |
312 |
N/A |
INTRINSIC |
|
transmembrane domain
|
332 |
354 |
N/A |
INTRINSIC |
|
transmembrane domain
|
367 |
389 |
N/A |
INTRINSIC |
|
transmembrane domain
|
420 |
442 |
N/A |
INTRINSIC |
|
transmembrane domain
|
480 |
502 |
N/A |
INTRINSIC |
|
transmembrane domain
|
522 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
599 |
N/A |
INTRINSIC |
|
transmembrane domain
|
633 |
655 |
N/A |
INTRINSIC |
|
transmembrane domain
|
675 |
697 |
N/A |
INTRINSIC |
|
transmembrane domain
|
720 |
742 |
N/A |
INTRINSIC |
|
transmembrane domain
|
762 |
784 |
N/A |
INTRINSIC |
|
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
|
transmembrane domain
|
847 |
866 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227135
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
T |
C |
16: 88,424,081 (GRCm39) |
M137V |
probably benign |
Het |
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Aaas |
T |
C |
15: 102,248,771 (GRCm39) |
I236V |
probably benign |
Het |
| Abcd4 |
C |
T |
12: 84,658,533 (GRCm39) |
M223I |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,135,213 (GRCm39) |
I246N |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,233,508 (GRCm39) |
D582G |
probably damaging |
Het |
| Aqr |
A |
G |
2: 113,949,150 (GRCm39) |
|
probably benign |
Het |
| Bmal2 |
A |
G |
6: 146,724,187 (GRCm39) |
K360E |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 29,068,880 (GRCm39) |
I282M |
probably damaging |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Dexi |
A |
T |
16: 10,360,553 (GRCm39) |
M1K |
probably null |
Het |
| Dlat |
A |
G |
9: 50,549,354 (GRCm39) |
V510A |
probably damaging |
Het |
| Eaf1 |
T |
C |
14: 31,224,402 (GRCm39) |
I173T |
possibly damaging |
Het |
| Elavl3 |
G |
T |
9: 21,929,895 (GRCm39) |
D336E |
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,219,420 (GRCm39) |
Y69C |
probably benign |
Het |
| Fam168a |
A |
G |
7: 100,473,432 (GRCm39) |
N107S |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,793,829 (GRCm39) |
|
probably null |
Het |
| Fscn3 |
C |
T |
6: 28,428,091 (GRCm39) |
T26I |
possibly damaging |
Het |
| Glt8d2 |
C |
A |
10: 82,488,571 (GRCm39) |
A300S |
probably benign |
Het |
| Hcn4 |
G |
A |
9: 58,751,319 (GRCm39) |
R315H |
unknown |
Het |
| Lipk |
A |
G |
19: 34,017,829 (GRCm39) |
N289S |
probably damaging |
Het |
| Lyg1 |
G |
T |
1: 37,989,759 (GRCm39) |
R43S |
probably damaging |
Het |
| Mc4r |
T |
A |
18: 66,992,892 (GRCm39) |
N74Y |
probably damaging |
Het |
| Med17 |
G |
A |
9: 15,175,062 (GRCm39) |
|
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,499,776 (GRCm39) |
R773L |
possibly damaging |
Het |
| Myo15a |
A |
T |
11: 60,370,057 (GRCm39) |
E939V |
possibly damaging |
Het |
| Ndst4 |
A |
T |
3: 125,355,154 (GRCm39) |
H354L |
possibly damaging |
Het |
| Or2t26 |
T |
C |
11: 49,039,642 (GRCm39) |
L186P |
probably damaging |
Het |
| Or4c15 |
A |
G |
2: 88,759,757 (GRCm39) |
W301R |
probably benign |
Het |
| Or4p22 |
C |
A |
2: 88,317,787 (GRCm39) |
T237N |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,534,215 (GRCm39) |
K1397* |
probably null |
Het |
| Rangap1 |
C |
A |
15: 81,594,661 (GRCm39) |
E389D |
probably benign |
Het |
| Rbfox2 |
A |
G |
15: 76,983,451 (GRCm39) |
I270T |
probably damaging |
Het |
| Rnf217 |
G |
T |
10: 31,410,728 (GRCm39) |
C322* |
probably null |
Het |
| Sbk1 |
A |
G |
7: 125,889,183 (GRCm39) |
T50A |
probably benign |
Het |
| Shmt1 |
T |
C |
11: 60,688,402 (GRCm39) |
T248A |
probably damaging |
Het |
| Smim29 |
G |
A |
17: 27,785,043 (GRCm39) |
|
probably benign |
Het |
| Sox30 |
C |
T |
11: 45,875,619 (GRCm39) |
T457I |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,866,187 (GRCm39) |
I52F |
possibly damaging |
Het |
| Syncrip |
A |
T |
9: 88,361,738 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
G |
A |
7: 65,338,700 (GRCm39) |
|
probably null |
Het |
| Tdrd12 |
T |
C |
7: 35,204,405 (GRCm39) |
E235G |
probably benign |
Het |
| Tmem82 |
A |
T |
4: 141,344,945 (GRCm39) |
|
probably null |
Het |
| Tro |
T |
C |
X: 149,437,230 (GRCm39) |
T476A |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,561,363 (GRCm39) |
P27302S |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,571,610 (GRCm39) |
V26428I |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,742,968 (GRCm39) |
E656G |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,752,272 (GRCm39) |
R772G |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,984,474 (GRCm39) |
E190G |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,651,095 (GRCm39) |
|
probably benign |
Het |
| Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
probably benign |
Het |
| Zp2 |
A |
T |
7: 119,741,057 (GRCm39) |
S156T |
possibly damaging |
Het |
| Zswim5 |
A |
G |
4: 116,819,755 (GRCm39) |
T387A |
probably benign |
Het |
|
| Other mutations in Marchf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00479:Marchf6
|
APN |
15 |
31,475,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00902:Marchf6
|
APN |
15 |
31,485,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02352:Marchf6
|
APN |
15 |
31,509,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02359:Marchf6
|
APN |
15 |
31,509,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02565:Marchf6
|
APN |
15 |
31,490,712 (GRCm39) |
splice site |
probably benign |
|
|
IGL02735:Marchf6
|
APN |
15 |
31,486,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02808:Marchf6
|
APN |
15 |
31,478,552 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03122:Marchf6
|
APN |
15 |
31,478,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03235:Marchf6
|
APN |
15 |
31,486,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03238:Marchf6
|
APN |
15 |
31,462,087 (GRCm39) |
critical splice donor site |
probably benign |
|
|
IGL03263:Marchf6
|
APN |
15 |
31,486,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
ideation
|
UTSW |
15 |
31,482,650 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0003:Marchf6
|
UTSW |
15 |
31,469,678 (GRCm39) |
splice site |
probably benign |
|
|
R0056:Marchf6
|
UTSW |
15 |
31,467,880 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0115:Marchf6
|
UTSW |
15 |
31,475,958 (GRCm39) |
missense |
probably benign |
|
|
R0126:Marchf6
|
UTSW |
15 |
31,462,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0148:Marchf6
|
UTSW |
15 |
31,490,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0744:Marchf6
|
UTSW |
15 |
31,480,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0833:Marchf6
|
UTSW |
15 |
31,480,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1205:Marchf6
|
UTSW |
15 |
31,469,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1339:Marchf6
|
UTSW |
15 |
31,486,548 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1485:Marchf6
|
UTSW |
15 |
31,498,839 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1885:Marchf6
|
UTSW |
15 |
31,502,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1889:Marchf6
|
UTSW |
15 |
31,459,339 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1984:Marchf6
|
UTSW |
15 |
31,469,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2007:Marchf6
|
UTSW |
15 |
31,462,087 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2046:Marchf6
|
UTSW |
15 |
31,486,580 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2135:Marchf6
|
UTSW |
15 |
31,509,910 (GRCm39) |
nonsense |
probably null |
|
|
R3116:Marchf6
|
UTSW |
15 |
31,486,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3710:Marchf6
|
UTSW |
15 |
31,509,972 (GRCm39) |
splice site |
probably benign |
|
|
R3749:Marchf6
|
UTSW |
15 |
31,462,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3944:Marchf6
|
UTSW |
15 |
31,488,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4327:Marchf6
|
UTSW |
15 |
31,498,887 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4329:Marchf6
|
UTSW |
15 |
31,498,887 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5001:Marchf6
|
UTSW |
15 |
31,465,468 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5149:Marchf6
|
UTSW |
15 |
31,462,140 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5654:Marchf6
|
UTSW |
15 |
31,486,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Marchf6
|
UTSW |
15 |
31,465,497 (GRCm39) |
missense |
probably benign |
|
|
R6172:Marchf6
|
UTSW |
15 |
31,483,013 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6381:Marchf6
|
UTSW |
15 |
31,467,838 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6888:Marchf6
|
UTSW |
15 |
31,459,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7347:Marchf6
|
UTSW |
15 |
31,486,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8029:Marchf6
|
UTSW |
15 |
31,496,148 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8316:Marchf6
|
UTSW |
15 |
31,482,650 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8342:Marchf6
|
UTSW |
15 |
31,494,262 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8431:Marchf6
|
UTSW |
15 |
31,505,892 (GRCm39) |
nonsense |
probably null |
|
|
R8437:Marchf6
|
UTSW |
15 |
31,482,695 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8554:Marchf6
|
UTSW |
15 |
31,482,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8893:Marchf6
|
UTSW |
15 |
31,498,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9523:Marchf6
|
UTSW |
15 |
31,498,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTAAGTCTACATACTATCAATGGGA -3'
(R):5'- CTGCATTCCTACGTACTAGCTT -3'
Sequencing Primer
(F):5'- GTAGGCTATTCTAAACAGCCA -3'
(R):5'- TGGGAACAGTCACCGTTATC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation