Incidental Mutation 'IGL00957:Mtpn'
ID |
27677 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mtpn
|
Ensembl Gene |
ENSMUSG00000029840 |
Gene Name |
myotrophin |
Synonyms |
V1, Gcdp, 5033418D15Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.405)
|
Stock # |
IGL00957
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
35485841-35516823 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
A to G
at 35516547 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031866]
[ENSMUST00000201026]
|
AlphaFold |
P62774 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031866
|
SMART Domains |
Protein: ENSMUSP00000031866 Gene: ENSMUSG00000029840
Domain | Start | End | E-Value | Type |
Blast:ANK
|
1 |
30 |
8e-9 |
BLAST |
ANK
|
34 |
63 |
7.64e-6 |
SMART |
ANK
|
67 |
96 |
1.14e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201026
|
SMART Domains |
Protein: ENSMUSP00000144482 Gene: ENSMUSG00000029840
Domain | Start | End | E-Value | Type |
ANK
|
27 |
56 |
5e-8 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
T |
A |
1: 63,573,470 (GRCm39) |
I246N |
probably benign |
Het |
Adora1 |
A |
G |
1: 134,130,951 (GRCm39) |
L240P |
probably damaging |
Het |
Ago4 |
C |
T |
4: 126,410,926 (GRCm39) |
V188I |
probably benign |
Het |
Ccdc138 |
T |
A |
10: 58,364,838 (GRCm39) |
|
probably benign |
Het |
Cpeb4 |
A |
G |
11: 31,823,204 (GRCm39) |
Y306C |
probably damaging |
Het |
Ctsz |
T |
C |
2: 174,269,771 (GRCm39) |
E272G |
probably damaging |
Het |
Dst |
G |
A |
1: 34,267,488 (GRCm39) |
V5155I |
probably benign |
Het |
Fabp12 |
C |
T |
3: 10,315,273 (GRCm39) |
|
probably null |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Hpcal1 |
G |
A |
12: 17,837,591 (GRCm39) |
E142K |
probably benign |
Het |
Hspa4 |
G |
A |
11: 53,171,514 (GRCm39) |
T230I |
probably benign |
Het |
Htt |
T |
C |
5: 34,964,068 (GRCm39) |
V387A |
probably benign |
Het |
Loxl3 |
A |
G |
6: 83,025,747 (GRCm39) |
|
probably benign |
Het |
Lrrc30 |
G |
A |
17: 67,939,499 (GRCm39) |
S27L |
probably benign |
Het |
Mug2 |
A |
G |
6: 122,017,613 (GRCm39) |
Y450C |
probably damaging |
Het |
Ncl |
A |
G |
1: 86,284,091 (GRCm39) |
|
probably null |
Het |
Or8k23 |
A |
T |
2: 86,186,477 (GRCm39) |
V83E |
possibly damaging |
Het |
Psmd3 |
T |
A |
11: 98,576,394 (GRCm39) |
S99T |
probably benign |
Het |
Rb1cc1 |
G |
A |
1: 6,319,763 (GRCm39) |
A1061T |
probably damaging |
Het |
Rhbdd1 |
T |
C |
1: 82,318,362 (GRCm39) |
Y82H |
probably damaging |
Het |
Slc5a6 |
T |
C |
5: 31,196,279 (GRCm39) |
|
probably benign |
Het |
Sox6 |
T |
C |
7: 115,376,327 (GRCm39) |
K135R |
probably damaging |
Het |
Tasor2 |
T |
A |
13: 3,627,101 (GRCm39) |
I950F |
possibly damaging |
Het |
Tbx21 |
A |
G |
11: 96,989,920 (GRCm39) |
V424A |
probably benign |
Het |
Trpa1 |
A |
T |
1: 14,951,892 (GRCm39) |
Y936N |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,569,280 (GRCm39) |
D25458E |
probably damaging |
Het |
Zfp629 |
C |
T |
7: 127,211,896 (GRCm39) |
V6M |
probably damaging |
Het |
|
Other mutations in Mtpn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00094:Mtpn
|
APN |
6 |
35,499,711 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03238:Mtpn
|
APN |
6 |
35,499,708 (GRCm39) |
missense |
probably damaging |
1.00 |
lamco
|
UTSW |
6 |
35,499,693 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0972:Mtpn
|
UTSW |
6 |
35,498,911 (GRCm39) |
missense |
probably null |
0.78 |
R1311:Mtpn
|
UTSW |
6 |
35,489,185 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1462:Mtpn
|
UTSW |
6 |
35,499,693 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1462:Mtpn
|
UTSW |
6 |
35,499,693 (GRCm39) |
missense |
possibly damaging |
0.65 |
R3076:Mtpn
|
UTSW |
6 |
35,498,879 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5297:Mtpn
|
UTSW |
6 |
35,489,225 (GRCm39) |
missense |
probably benign |
0.00 |
R5334:Mtpn
|
UTSW |
6 |
35,489,225 (GRCm39) |
missense |
probably benign |
0.00 |
R5336:Mtpn
|
UTSW |
6 |
35,489,225 (GRCm39) |
missense |
probably benign |
0.00 |
R5337:Mtpn
|
UTSW |
6 |
35,489,225 (GRCm39) |
missense |
probably benign |
0.00 |
R5512:Mtpn
|
UTSW |
6 |
35,489,225 (GRCm39) |
missense |
probably benign |
0.00 |
R5809:Mtpn
|
UTSW |
6 |
35,489,225 (GRCm39) |
missense |
probably benign |
0.00 |
R5841:Mtpn
|
UTSW |
6 |
35,489,225 (GRCm39) |
missense |
probably benign |
0.00 |
R5842:Mtpn
|
UTSW |
6 |
35,489,225 (GRCm39) |
missense |
probably benign |
0.00 |
R5843:Mtpn
|
UTSW |
6 |
35,489,225 (GRCm39) |
missense |
probably benign |
0.00 |
R5844:Mtpn
|
UTSW |
6 |
35,489,225 (GRCm39) |
missense |
probably benign |
0.00 |
R5846:Mtpn
|
UTSW |
6 |
35,489,225 (GRCm39) |
missense |
probably benign |
0.00 |
R9264:Mtpn
|
UTSW |
6 |
35,489,176 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Posted On |
2013-04-17 |