Incidental Mutation 'R5860:Mtus1'
ID 453847
Institutional Source Beutler Lab
Gene Symbol Mtus1
Ensembl Gene ENSMUSG00000045636
Gene Name mitochondrial tumor suppressor 1
Synonyms MTSG1, B430305I03Rik, MD44, Atip1
MMRRC Submission 044072-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R5860 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 41443951-41586763 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 41529303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 742 (L742F)
Ref Sequence ENSEMBL: ENSMUSP00000119440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059115] [ENSMUST00000118835] [ENSMUST00000145860]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000059115
AA Change: L742F

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: L742F

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: ENSMUST00000118835
AA Change: L742F

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: L742F

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 unknown
Transcript: ENSMUST00000143853
AA Change: L108F
Predicted Effect probably damaging
Transcript: ENSMUST00000145860
AA Change: L742F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119440
Gene: ENSMUSG00000045636
AA Change: L742F

DomainStartEndE-ValueType
low complexity region 524 539 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.8%
Validation Efficiency 97% (75/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568A12Rik A G 1: 34,524,661 (GRCm39) noncoding transcript Het
A2ml1 T C 6: 128,518,024 (GRCm39) T1421A probably benign Het
Actr8 T A 14: 29,708,242 (GRCm39) Y150* probably null Het
Adamts1 A G 16: 85,595,432 (GRCm39) C249R probably damaging Het
Adgre1 T A 17: 57,752,034 (GRCm39) I594N probably damaging Het
Atf6 A T 1: 170,669,344 (GRCm39) L119H probably damaging Het
Atf6 G A 1: 170,669,345 (GRCm39) L119F possibly damaging Het
B3gat2 G A 1: 23,854,400 (GRCm39) W33* probably null Het
Bach2 A G 4: 32,580,268 (GRCm39) D831G probably damaging Het
Ccnk A T 12: 108,153,466 (GRCm39) I76F probably damaging Het
Cdyl A C 13: 36,042,066 (GRCm39) K368T possibly damaging Het
Chi3l1 A G 1: 134,112,909 (GRCm39) T114A probably benign Het
Cnppd1 A G 1: 75,113,131 (GRCm39) V379A probably benign Het
Col11a2 C A 17: 34,283,159 (GRCm39) probably benign Het
Creb3l1 T C 2: 91,854,399 (GRCm39) S18G probably benign Het
Crybg3 A C 16: 59,385,632 (GRCm39) D197E probably damaging Het
Cryga T C 1: 65,142,527 (GRCm39) probably benign Het
Cthrc1 T C 15: 38,950,080 (GRCm39) C146R probably damaging Het
Cyp2c39 A T 19: 39,525,270 (GRCm39) D191V probably damaging Het
Dchs1 C T 7: 105,421,242 (GRCm39) A393T probably damaging Het
Dhx30 G A 9: 109,913,645 (GRCm39) T1126I probably damaging Het
Dock2 C T 11: 34,206,562 (GRCm39) G1345R probably damaging Het
Dsc1 T C 18: 20,228,081 (GRCm39) E425G probably damaging Het
Dynlt2b A G 16: 32,247,614 (GRCm39) Y143C probably damaging Het
Exosc8 C T 3: 54,642,463 (GRCm39) probably benign Het
Fat1 C T 8: 45,504,166 (GRCm39) A4553V probably benign Het
Flnb T A 14: 7,931,135 (GRCm38) L2119Q probably damaging Het
Fnbp4 T A 2: 90,587,826 (GRCm39) D401E probably benign Het
Glyctk T C 9: 106,032,906 (GRCm39) E369G possibly damaging Het
Gm14149 C A 2: 151,066,225 (GRCm39) noncoding transcript Het
Golga4 T C 9: 118,387,174 (GRCm39) L1432P probably damaging Het
Gtpbp4 A T 13: 9,023,196 (GRCm39) S623T probably benign Het
Insc A C 7: 114,390,383 (GRCm39) S85R probably damaging Het
Lgr4 G A 2: 109,821,496 (GRCm39) R126H probably damaging Het
M1ap T A 6: 82,980,795 (GRCm39) L227Q probably damaging Het
Marchf7 T C 2: 60,067,187 (GRCm39) I569T probably damaging Het
Mbd1 C A 18: 74,409,768 (GRCm39) C339* probably null Het
Moxd2 T A 6: 40,857,341 (GRCm39) Y473F probably damaging Het
Mrgpra6 T C 7: 46,839,099 (GRCm39) H2R probably benign Het
Nek11 A G 9: 105,270,160 (GRCm39) Y21H probably benign Het
Notch4 G T 17: 34,801,392 (GRCm39) C1080F probably damaging Het
Nsd3 C A 8: 26,156,107 (GRCm39) P558Q probably damaging Het
Oas1e A T 5: 120,930,015 (GRCm39) S168T probably benign Het
Ogfr T C 2: 180,234,285 (GRCm39) S119P probably damaging Het
Or2y15 A G 11: 49,350,563 (GRCm39) D19G probably damaging Het
Or8g20 T A 9: 39,395,767 (GRCm39) M261L probably benign Het
Pde4dip A G 3: 97,631,504 (GRCm39) I1135T possibly damaging Het
Prex1 G A 2: 166,486,604 (GRCm39) probably benign Het
Ptprf T C 4: 118,068,486 (GRCm39) probably benign Het
Rapsn T C 2: 90,875,859 (GRCm39) V359A probably damaging Het
Ric1 A G 19: 29,577,245 (GRCm39) S1050G possibly damaging Het
Rnft2 A G 5: 118,366,868 (GRCm39) I290T possibly damaging Het
Senp7 C A 16: 55,975,722 (GRCm39) A476E possibly damaging Het
Serpinh1 G A 7: 98,995,571 (GRCm39) S337L probably damaging Het
Slc5a12 C A 2: 110,427,969 (GRCm39) A8D probably benign Het
Smg5 T A 3: 88,250,214 (GRCm39) C109S probably damaging Het
Speer4b T C 5: 27,705,226 (GRCm39) H49R possibly damaging Het
Tas2r109 T C 6: 132,957,664 (GRCm39) I89V probably benign Het
Tet1 A G 10: 62,648,399 (GRCm39) probably null Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Tpgs1 G A 10: 79,505,545 (GRCm39) G101D probably damaging Het
Trim13 T G 14: 61,842,188 (GRCm39) S68R probably damaging Het
Vwf A G 6: 125,620,053 (GRCm39) N1577S Het
Vwf G T 6: 125,656,228 (GRCm39) probably benign Het
Xpr1 T C 1: 155,207,868 (GRCm39) probably benign Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zftraf1 A T 15: 76,532,391 (GRCm39) I239N probably damaging Het
Zftraf1 T C 15: 76,540,615 (GRCm39) Y101C probably damaging Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N 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
IGL02571:Mtus1 APN 8 41,536,519 (GRCm39) missense possibly damaging 0.90
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
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
Predicted Primers PCR Primer
(F):5'- AAAGAGGCTGTGCTGTCTCC -3'
(R):5'- CTGGTTTGTTTCCTCACAGGGC -3'

Sequencing Primer
(F):5'- GTTGGACCACAATAAGCTCGCTG -3'
(R):5'- GGGCTCTGCACCCAAAACTTC -3'
Posted On 2017-02-10