Incidental Mutation 'R7424:Mtus1'
ID 575925
Institutional Source Beutler Lab
Gene Symbol Mtus1
Ensembl Gene ENSMUSG00000045636
Gene Name mitochondrial tumor suppressor 1
Synonyms MTSG1, B430305I03Rik, MD44, Atip1
MMRRC Submission 045502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R7424 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 41443951-41586763 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 41475443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 184 (V184F)
Ref Sequence ENSEMBL: ENSMUSP00000091252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051379] [ENSMUST00000059115] [ENSMUST00000093534] [ENSMUST00000118835]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000051379
AA Change: V104F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053554
Gene: ENSMUSG00000045636
AA Change: V104F

DomainStartEndE-ValueType
coiled coil region 106 168 N/A INTRINSIC
coiled coil region 193 375 N/A INTRINSIC
low complexity region 425 439 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000059115
AA Change: V874F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: V874F

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 damaging
Transcript: ENSMUST00000093534
AA Change: V184F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091252
Gene: ENSMUSG00000045636
AA Change: V184F

DomainStartEndE-ValueType
coiled coil region 186 248 N/A INTRINSIC
coiled coil region 273 455 N/A INTRINSIC
low complexity region 505 519 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118835
AA Change: V874F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: V874F

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
Meta Mutation Damage Score 0.6552 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (76/77)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik C T 8: 120,872,284 (GRCm39) R71C probably damaging Het
Aanat A T 11: 116,486,455 (GRCm39) probably benign Het
Ahrr G T 13: 74,405,664 (GRCm39) S91* probably null Het
Ampd1 A T 3: 102,995,758 (GRCm39) N223Y probably benign Het
Ankar T G 1: 72,719,217 (GRCm39) N544T probably damaging Het
Ankk1 A G 9: 49,330,050 (GRCm39) S302P possibly damaging Het
Bcr T C 10: 74,992,932 (GRCm39) V809A probably benign Het
Bpifb2 A G 2: 153,732,460 (GRCm39) N353S possibly damaging Het
Cyth1 A T 11: 118,074,835 (GRCm39) probably null Het
Ddx5 A T 11: 106,673,006 (GRCm39) N506K probably benign Het
Dnaja1 A T 4: 40,730,244 (GRCm39) I239F probably benign Het
Ethe1 C T 7: 24,305,676 (GRCm39) T141I probably damaging Het
Fhip2b T C 14: 70,831,447 (GRCm39) H29R probably damaging Het
Gdap2 A T 3: 100,109,382 (GRCm39) I36F unknown Het
Gm13030 A T 4: 138,598,577 (GRCm39) D115E unknown Het
Gm17019 A T 5: 15,079,386 (GRCm39) L227Q probably damaging Het
Gm9195 T A 14: 72,673,217 (GRCm39) E2517D possibly damaging Het
Gramd2a T A 9: 59,615,354 (GRCm39) V39D possibly damaging Het
Hmcn1 C T 1: 150,506,017 (GRCm39) W3836* probably null Het
Hspa14 C T 2: 3,490,078 (GRCm39) D494N possibly damaging Het
Ifit2 A G 19: 34,550,598 (GRCm39) N46S probably benign Het
Ifna6 A T 4: 88,746,044 (GRCm39) E131V possibly damaging Het
Ift140 T C 17: 25,256,010 (GRCm39) V504A possibly damaging Het
Irgc T C 7: 24,131,653 (GRCm39) N388S probably damaging Het
Itgal T A 7: 126,916,537 (GRCm39) V743E probably benign Het
Itih5 T C 2: 10,250,448 (GRCm39) S716P probably damaging Het
Kcnab1 A T 3: 65,173,924 (GRCm39) K78N possibly damaging Het
Kif1a A T 1: 92,982,039 (GRCm39) V787E possibly damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Krt39 A T 11: 99,408,917 (GRCm39) V293E probably damaging Het
Lrrn4 A G 2: 132,711,663 (GRCm39) F720S possibly damaging Het
Map2 G A 1: 66,453,983 (GRCm39) A958T possibly damaging Het
Map3k9 A G 12: 81,770,871 (GRCm39) S906P probably benign Het
Mdc1 T C 17: 36,164,201 (GRCm39) S1250P probably benign Het
Meltf G A 16: 31,703,764 (GRCm39) V164I probably damaging Het
Mtap T G 4: 89,097,699 (GRCm39) probably null Het
Myh1 A T 11: 67,104,489 (GRCm39) D1015V probably damaging Het
Ndrg1 T C 15: 66,816,787 (GRCm39) probably null Het
Nkd1 G T 8: 89,311,803 (GRCm39) V130L probably benign Het
Nsfl1c A G 2: 151,342,673 (GRCm39) D81G probably benign Het
Nt5c1b T A 12: 10,431,391 (GRCm39) probably null Het
Nucb1 T C 7: 45,148,202 (GRCm39) K204E possibly damaging Het
Nwd1 T G 8: 73,401,801 (GRCm39) M774R possibly damaging Het
Or2m13 A T 16: 19,225,944 (GRCm39) V274E probably damaging Het
Or52u1 G C 7: 104,237,907 (GRCm39) E299Q probably damaging Het
Or5an1c A T 19: 12,218,318 (GRCm39) S236T possibly damaging Het
Pan3 T A 5: 147,473,082 (GRCm39) probably null Het
Pcdh15 A T 10: 74,342,317 (GRCm39) T1135S probably benign Het
Pfas A G 11: 68,890,918 (GRCm39) I331T probably damaging Het
Plxna2 T A 1: 194,488,647 (GRCm39) I1641N probably damaging Het
Pramel27 C T 4: 143,579,779 (GRCm39) P455S probably benign Het
Ptar1 A T 19: 23,695,465 (GRCm39) R311W probably damaging Het
Ranbp2 T G 10: 58,315,016 (GRCm39) M1912R probably damaging Het
Rbm12 A G 2: 155,939,223 (GRCm39) F350L possibly damaging Het
Sdhaf1 T C 7: 30,021,468 (GRCm39) D96G probably benign Het
Serpinb6b T A 13: 33,152,650 (GRCm39) M53K probably damaging Het
Sh2d6 A T 6: 72,494,147 (GRCm39) L147Q probably benign Het
Slc19a2 T A 1: 164,088,445 (GRCm39) C298S probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
St8sia2 T A 7: 73,610,650 (GRCm39) Q211L possibly damaging Het
Sult2a2 T C 7: 13,468,822 (GRCm39) I96T possibly damaging Het
Tab2 G T 10: 7,783,247 (GRCm39) H678Q probably damaging Het
Tnfaip6 A G 2: 51,928,228 (GRCm39) E14G probably benign Het
Trip11 A T 12: 101,851,457 (GRCm39) L869H probably damaging Het
Tslp T C 18: 32,952,133 (GRCm39) Y133H not run Het
Ttn T C 2: 76,571,334 (GRCm39) I26520V probably damaging Het
Ttn A G 2: 76,762,487 (GRCm39) V3374A unknown Het
Tubgcp2 T A 7: 139,587,837 (GRCm39) I263F possibly damaging Het
Uaca A G 9: 60,777,392 (GRCm39) E593G probably damaging Het
Unc13b C T 4: 43,172,235 (GRCm39) T1021I unknown Het
Ush1c T A 7: 45,874,979 (GRCm39) I131F probably benign Het
Usp24 C A 4: 106,236,304 (GRCm39) D997E probably benign Het
Usp54 T C 14: 20,627,108 (GRCm39) T517A probably benign Het
Vmn1r151 A T 7: 22,198,505 (GRCm39) M200K possibly damaging Het
Vmn2r43 T C 7: 8,258,328 (GRCm39) D295G probably damaging Het
Vmn2r70 G A 7: 85,213,076 (GRCm39) P444S probably damaging Het
Vmn2r85 G T 10: 130,254,849 (GRCm39) P612T probably damaging Het
Vps13d A T 4: 144,875,317 (GRCm39) V1736D Het
Zbtb11 A T 16: 55,810,850 (GRCm39) H336L probably benign 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
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
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'- AAATTATAGTTTGGGGCATGGC -3'
(R):5'- ATCCCAGGAGCCTATGCATC -3'

Sequencing Primer
(F):5'- TTCGTGCTAGTGAGAAACCC -3'
(R):5'- GGAGCCTATGCATCCAGAC -3'
Posted On 2019-10-07