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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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