Incidental Mutation 'R1311:Mtpn'
| ID |
157930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtpn
|
| Ensembl Gene |
ENSMUSG00000029840 |
| Gene Name |
myotrophin |
| Synonyms |
V1, Gcdp, 5033418D15Rik |
| MMRRC Submission |
039377-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.405)
|
| Stock # |
R1311 (G1)
|
| Quality Score |
186 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
35485841-35516823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35489185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 113
(I113T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031866]
|
| 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: I113T
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031866
Gene: ENSMUSG00000029840
AA Change: I113T
| 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 |
|
| Meta Mutation Damage Score |
0.9079 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.1%
- 20x: 86.2%
|
| Validation Efficiency |
98% (42/43) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
T |
C |
2: 58,170,261 (GRCm39) |
Q449R |
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,759,007 (GRCm39) |
Y195H |
possibly damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,648,111 (GRCm39) |
N1939K |
probably damaging |
Het |
| Cd209c |
T |
A |
8: 3,995,908 (GRCm39) |
M1L |
probably benign |
Het |
| Ckb |
TCCACCACCA |
TCCACCA |
12: 111,636,079 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
A |
G |
10: 61,699,789 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,817,286 (GRCm39) |
V1640A |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,781,088 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,932,706 (GRCm39) |
T1409I |
probably damaging |
Het |
| Gm4884 |
G |
C |
7: 40,692,539 (GRCm39) |
E169D |
possibly damaging |
Het |
| Gm5709 |
T |
C |
3: 59,526,100 (GRCm39) |
|
noncoding transcript |
Het |
| Htr2b |
C |
A |
1: 86,038,346 (GRCm39) |
A87S |
probably damaging |
Het |
| Kansl2 |
G |
T |
15: 98,426,797 (GRCm39) |
H275N |
possibly damaging |
Het |
| Megf6 |
G |
A |
4: 154,348,239 (GRCm39) |
|
probably null |
Het |
| Myh6 |
G |
T |
14: 55,183,822 (GRCm39) |
A1704E |
probably damaging |
Het |
| Notum |
C |
T |
11: 120,546,575 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Olfml1 |
T |
C |
7: 107,167,103 (GRCm39) |
|
probably null |
Het |
| Or14c41 |
T |
A |
7: 86,235,161 (GRCm39) |
V226D |
probably damaging |
Het |
| Ptpn5 |
A |
T |
7: 46,728,980 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,990,854 (GRCm39) |
F985L |
probably benign |
Het |
| Slc7a7 |
A |
T |
14: 54,610,487 (GRCm39) |
Y386* |
probably null |
Het |
| Snph |
G |
T |
2: 151,439,122 (GRCm39) |
P36Q |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,915,868 (GRCm39) |
C838R |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Supt7l |
T |
C |
5: 31,677,605 (GRCm39) |
Y187C |
probably damaging |
Het |
| Sycp2l |
A |
T |
13: 41,288,661 (GRCm39) |
K241* |
probably null |
Het |
| Tenm2 |
G |
T |
11: 35,959,421 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
A |
G |
16: 4,377,290 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
T |
C |
11: 82,335,122 (GRCm39) |
Y643H |
probably damaging |
Het |
| Tmem200c |
A |
T |
17: 69,147,758 (GRCm39) |
S114C |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,679,342 (GRCm39) |
I4850T |
possibly damaging |
Het |
| Zmym6 |
G |
T |
4: 127,017,151 (GRCm39) |
L977F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAGCTGAGAAGGTCCAATGATTC -3'
(R):5'- CCTATGCCACATAGCCACCTCTGG -3'
Sequencing Primer
(F):5'- GCTCTCCCTTGGGAATAAGCTG -3'
(R):5'- ATAGCCACCTCTGGCACTTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation