Incidental Mutation 'IGL02571:Mtus1'
ID 298994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtus1
Ensembl Gene ENSMUSG00000045636
Gene Name mitochondrial tumor suppressor 1
Synonyms MTSG1, B430305I03Rik, MD44, Atip1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # IGL02571
Quality Score
Status
Chromosome 8
Chromosomal Location 41443951-41586763 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 41536519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 399 (G399D)
Ref Sequence ENSEMBL: ENSMUSP00000112626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059115] [ENSMUST00000118835] [ENSMUST00000145860] [ENSMUST00000155055]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000059115
AA Change: G399D

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: G399D

DomainStartEndE-ValueType
low complexity region 524 539 N/A INTRINSIC
coiled coil region 876 938 N/A INTRINSIC
SCOP:d1eq1a_ 1021 1156 3e-7 SMART
low complexity region 1195 1209 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118835
AA Change: G399D

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: G399D

DomainStartEndE-ValueType
low complexity region 524 539 N/A INTRINSIC
coiled coil region 876 938 N/A INTRINSIC
SCOP:d1eq1a_ 1021 1156 3e-7 SMART
low complexity region 1195 1209 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143853
Predicted Effect probably benign
Transcript: ENSMUST00000145860
AA Change: G399D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000119440
Gene: ENSMUSG00000045636
AA Change: G399D

DomainStartEndE-ValueType
low complexity region 524 539 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155055
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit spontaneous heart hypertrophy and SLE-like lymphoproliferative disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a2 T C 14: 60,249,907 (GRCm39) probably benign Het
Cacna2d2 G A 9: 107,402,845 (GRCm39) E885K possibly damaging Het
Cyp4f17 A G 17: 32,743,878 (GRCm39) E352G probably benign Het
Dip2b T C 15: 100,055,766 (GRCm39) W373R possibly damaging Het
Garin3 G T 11: 46,296,072 (GRCm39) R148L probably damaging Het
Gem C A 4: 11,713,628 (GRCm39) Q255K probably benign Het
Herc1 T C 9: 66,341,887 (GRCm39) probably benign Het
Herc2 A T 7: 55,803,134 (GRCm39) N2161I probably damaging Het
Ift172 A G 5: 31,415,235 (GRCm39) F1325L probably damaging Het
Irgc T C 7: 24,132,016 (GRCm39) K267R probably damaging Het
Kif1a A G 1: 92,948,178 (GRCm39) probably null Het
Lifr G T 15: 7,219,592 (GRCm39) probably benign Het
Mrpl12 A G 11: 120,376,258 (GRCm39) probably null Het
Mrps18c A G 5: 100,949,841 (GRCm39) D74G probably damaging Het
Nf1 T C 11: 79,319,453 (GRCm39) I536T probably damaging Het
Or5a3 C A 19: 12,400,250 (GRCm39) S192R possibly damaging Het
Pcdh9 A G 14: 93,798,023 (GRCm39) probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rubcnl A T 14: 75,269,576 (GRCm39) Q78L possibly damaging Het
Sis C A 3: 72,863,637 (GRCm39) probably benign Het
Tbc1d2 T C 4: 46,628,370 (GRCm39) M320V probably benign Het
Vmn1r178 C T 7: 23,593,660 (GRCm39) T236I probably damaging Het
Xpc T C 6: 91,481,053 (GRCm39) D273G probably benign Het
Zfhx4 A C 3: 5,394,583 (GRCm39) N1033T probably damaging Het
Zfp646 A G 7: 127,478,584 (GRCm39) T254A probably damaging Het
Other mutations in Mtus1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00708:Mtus1 APN 8 41,537,386 (GRCm39) missense probably damaging 1.00
IGL01377:Mtus1 APN 8 41,536,172 (GRCm39) missense possibly damaging 0.94
IGL01472:Mtus1 APN 8 41,455,449 (GRCm39) missense probably benign 0.01
IGL01995:Mtus1 APN 8 41,537,457 (GRCm39) missense probably damaging 1.00
IGL02027:Mtus1 APN 8 41,446,638 (GRCm39) missense probably damaging 1.00
IGL02381:Mtus1 APN 8 41,536,156 (GRCm39) missense probably benign 0.05
IGL02936:Mtus1 APN 8 41,452,554 (GRCm39) missense possibly damaging 0.79
R0116:Mtus1 UTSW 8 41,451,514 (GRCm39) unclassified probably benign
R0139:Mtus1 UTSW 8 41,469,233 (GRCm39) splice site probably benign
R0178:Mtus1 UTSW 8 41,455,398 (GRCm39) missense possibly damaging 0.94
R0179:Mtus1 UTSW 8 41,455,398 (GRCm39) missense possibly damaging 0.94
R0220:Mtus1 UTSW 8 41,447,609 (GRCm39) missense probably damaging 1.00
R0324:Mtus1 UTSW 8 41,537,432 (GRCm39) missense probably benign
R0355:Mtus1 UTSW 8 41,535,965 (GRCm39) missense probably benign 0.02
R0357:Mtus1 UTSW 8 41,536,563 (GRCm39) missense possibly damaging 0.71
R0464:Mtus1 UTSW 8 41,455,511 (GRCm39) missense probably damaging 0.96
R0681:Mtus1 UTSW 8 41,446,554 (GRCm39) missense probably damaging 1.00
R1016:Mtus1 UTSW 8 41,503,063 (GRCm39) missense probably benign 0.43
R1570:Mtus1 UTSW 8 41,529,278 (GRCm39) missense probably damaging 1.00
R1579:Mtus1 UTSW 8 41,535,895 (GRCm39) missense probably damaging 1.00
R1607:Mtus1 UTSW 8 41,468,446 (GRCm39) missense possibly damaging 0.58
R1869:Mtus1 UTSW 8 41,529,267 (GRCm39) critical splice donor site probably null
R1888:Mtus1 UTSW 8 41,537,362 (GRCm39) missense probably damaging 0.96
R1888:Mtus1 UTSW 8 41,537,362 (GRCm39) missense probably damaging 0.96
R1891:Mtus1 UTSW 8 41,537,362 (GRCm39) missense probably damaging 0.96
R1894:Mtus1 UTSW 8 41,537,362 (GRCm39) missense probably damaging 0.96
R2063:Mtus1 UTSW 8 41,535,745 (GRCm39) missense probably damaging 1.00
R2111:Mtus1 UTSW 8 41,475,608 (GRCm39) missense probably damaging 1.00
R2112:Mtus1 UTSW 8 41,475,608 (GRCm39) missense probably damaging 1.00
R2224:Mtus1 UTSW 8 41,535,812 (GRCm39) missense probably damaging 1.00
R2226:Mtus1 UTSW 8 41,535,812 (GRCm39) missense probably damaging 1.00
R2227:Mtus1 UTSW 8 41,535,812 (GRCm39) missense probably damaging 1.00
R2516:Mtus1 UTSW 8 41,535,776 (GRCm39) missense probably damaging 1.00
R3414:Mtus1 UTSW 8 41,501,100 (GRCm39) missense probably damaging 1.00
R3899:Mtus1 UTSW 8 41,536,166 (GRCm39) missense probably benign
R4096:Mtus1 UTSW 8 41,537,284 (GRCm39) missense probably damaging 0.99
R4831:Mtus1 UTSW 8 41,536,189 (GRCm39) missense probably damaging 1.00
R4850:Mtus1 UTSW 8 41,537,507 (GRCm39) missense possibly damaging 0.81
R4916:Mtus1 UTSW 8 41,453,838 (GRCm39) missense probably damaging 1.00
R4940:Mtus1 UTSW 8 41,494,515 (GRCm39) missense possibly damaging 0.52
R4988:Mtus1 UTSW 8 41,537,578 (GRCm39) missense probably benign 0.05
R5133:Mtus1 UTSW 8 41,536,229 (GRCm39) missense probably benign 0.00
R5468:Mtus1 UTSW 8 41,537,615 (GRCm39) missense probably benign 0.00
R5598:Mtus1 UTSW 8 41,475,592 (GRCm39) missense probably damaging 1.00
R5782:Mtus1 UTSW 8 41,535,764 (GRCm39) missense probably damaging 1.00
R5860:Mtus1 UTSW 8 41,529,303 (GRCm39) missense probably damaging 0.99
R5900:Mtus1 UTSW 8 41,536,534 (GRCm39) missense possibly damaging 0.92
R5943:Mtus1 UTSW 8 41,537,302 (GRCm39) missense probably benign 0.00
R6019:Mtus1 UTSW 8 41,536,077 (GRCm39) missense probably benign 0.33
R6125:Mtus1 UTSW 8 41,537,576 (GRCm39) missense probably damaging 0.99
R6197:Mtus1 UTSW 8 41,537,074 (GRCm39) missense possibly damaging 0.90
R6488:Mtus1 UTSW 8 41,494,545 (GRCm39) missense possibly damaging 0.52
R6869:Mtus1 UTSW 8 41,535,691 (GRCm39) missense possibly damaging 0.71
R7117:Mtus1 UTSW 8 41,536,621 (GRCm39) missense possibly damaging 0.95
R7126:Mtus1 UTSW 8 41,468,439 (GRCm39) missense probably damaging 0.98
R7213:Mtus1 UTSW 8 41,537,524 (GRCm39) missense probably damaging 0.99
R7308:Mtus1 UTSW 8 41,535,965 (GRCm39) missense probably benign 0.02
R7424:Mtus1 UTSW 8 41,475,443 (GRCm39) missense probably damaging 1.00
R7481:Mtus1 UTSW 8 41,537,652 (GRCm39) missense probably damaging 0.99
R7485:Mtus1 UTSW 8 41,537,590 (GRCm39) missense probably benign 0.37
R7660:Mtus1 UTSW 8 41,469,248 (GRCm39) missense probably benign
R7699:Mtus1 UTSW 8 41,537,006 (GRCm39) missense possibly damaging 0.94
R7700:Mtus1 UTSW 8 41,537,006 (GRCm39) missense possibly damaging 0.94
R7709:Mtus1 UTSW 8 41,507,687 (GRCm39) missense possibly damaging 0.81
R7791:Mtus1 UTSW 8 41,536,417 (GRCm39) missense possibly damaging 0.88
R8196:Mtus1 UTSW 8 41,509,689 (GRCm39) missense probably benign
R8463:Mtus1 UTSW 8 41,536,271 (GRCm39) missense probably benign 0.01
R8724:Mtus1 UTSW 8 41,451,500 (GRCm39) missense probably damaging 0.99
R9047:Mtus1 UTSW 8 41,536,760 (GRCm39) missense possibly damaging 0.94
R9092:Mtus1 UTSW 8 41,455,475 (GRCm39) missense probably damaging 1.00
R9283:Mtus1 UTSW 8 41,536,519 (GRCm39) missense probably benign 0.02
R9313:Mtus1 UTSW 8 41,535,923 (GRCm39) missense probably damaging 0.99
R9329:Mtus1 UTSW 8 41,537,239 (GRCm39) missense probably damaging 1.00
R9603:Mtus1 UTSW 8 41,536,795 (GRCm39) missense probably benign 0.04
R9711:Mtus1 UTSW 8 41,536,222 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16