Incidental Mutation 'R3076:Mtpn'
| ID |
265207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtpn
|
| Ensembl Gene |
ENSMUSG00000029840 |
| Gene Name |
myotrophin |
| Synonyms |
V1, Gcdp, 5033418D15Rik |
| MMRRC Submission |
040566-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.405)
|
| Stock # |
R3076 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
35485841-35516823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35498879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 76
(V76I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031866]
[ENSMUST00000201026]
|
| AlphaFold |
P62774 |
| PDB Structure |
Solution NMR structure of V-1 bound to capping protein (CP) [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031866
AA Change: V76I
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000031866
Gene: ENSMUSG00000029840
AA Change: V76I
| 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 |
noncoding transcript
Transcript: ENSMUST00000175136
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201026
AA Change: V69I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000144482
Gene: ENSMUSG00000029840
AA Change: V69I
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
27 |
56 |
5e-8 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
| Amigo2 |
C |
T |
15: 97,143,315 (GRCm39) |
R369Q |
probably damaging |
Het |
| Aopep |
A |
C |
13: 63,387,929 (GRCm39) |
D3A |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,479,278 (GRCm39) |
I1446V |
probably damaging |
Het |
| Ascc2 |
T |
A |
11: 4,622,446 (GRCm39) |
L504Q |
probably damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,679,498 (GRCm39) |
V932A |
possibly damaging |
Het |
| Cabcoco1 |
T |
G |
10: 68,361,475 (GRCm39) |
Y8S |
possibly damaging |
Het |
| Cct8 |
A |
G |
16: 87,285,765 (GRCm39) |
V231A |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 76,924,762 (GRCm39) |
K9R |
possibly damaging |
Het |
| Dlgap3 |
A |
G |
4: 127,089,499 (GRCm39) |
Y365C |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,818,725 (GRCm39) |
|
probably null |
Het |
| Gtf3c4 |
A |
T |
2: 28,725,165 (GRCm39) |
V189E |
possibly damaging |
Het |
| Khdc3 |
C |
A |
9: 73,010,212 (GRCm39) |
F89L |
probably damaging |
Het |
| Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,734,668 (GRCm39) |
Q393R |
possibly damaging |
Het |
| Med28 |
A |
G |
5: 45,679,820 (GRCm39) |
T68A |
possibly damaging |
Het |
| Meis1 |
A |
T |
11: 18,961,254 (GRCm39) |
N206K |
probably benign |
Het |
| Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
| Mrgpre |
C |
T |
7: 143,335,033 (GRCm39) |
A157T |
probably benign |
Het |
| Nbeal2 |
A |
T |
9: 110,460,768 (GRCm39) |
W1702R |
probably damaging |
Het |
| Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,640,182 (GRCm39) |
Y306N |
probably damaging |
Het |
| Nrsn1 |
T |
C |
13: 25,437,542 (GRCm39) |
T129A |
probably benign |
Het |
| Nrxn3 |
T |
G |
12: 89,227,186 (GRCm39) |
C274G |
probably damaging |
Het |
| Nyap2 |
T |
C |
1: 81,219,686 (GRCm39) |
|
probably null |
Het |
| Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
| Or1o11 |
T |
C |
17: 37,756,375 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,645,373 (GRCm39) |
T403A |
probably benign |
Het |
| Plaa |
T |
C |
4: 94,458,042 (GRCm39) |
I643V |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,179,931 (GRCm39) |
S1450P |
probably damaging |
Het |
| Sh2d2a |
T |
C |
3: 87,759,477 (GRCm39) |
I296T |
probably benign |
Het |
| Shtn1 |
T |
C |
19: 58,983,518 (GRCm39) |
E471G |
probably damaging |
Het |
| St7 |
T |
G |
6: 17,846,237 (GRCm39) |
Y163* |
probably null |
Het |
| Svil |
T |
C |
18: 5,116,055 (GRCm39) |
S1623P |
probably damaging |
Het |
| Ugcg |
T |
G |
4: 59,213,922 (GRCm39) |
V168G |
probably damaging |
Het |
| Vmn1r223 |
G |
A |
13: 23,434,335 (GRCm39) |
A310T |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,802,209 (GRCm39) |
M1K |
probably null |
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 |
|
IGL00957:Mtpn
|
APN |
6 |
35,516,547 (GRCm39) |
utr 5 prime |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAGCCAACAGCCTGTAG -3'
(R):5'- CATCAGTGGCAGATAAAAGATTTGAGC -3'
Sequencing Primer
(F):5'- CAACAGCCTGTAGCCAGTTATTG -3'
(R):5'- GAGCTTAGGTCAGATTTCTACTCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation