Incidental Mutation 'R7660:Mtus1'
ID 591514
Institutional Source Beutler Lab
Gene Symbol Mtus1
Ensembl Gene ENSMUSG00000045636
Gene Name mitochondrial tumor suppressor 1
Synonyms MTSG1, B430305I03Rik, MD44, Atip1
MMRRC Submission 045735-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R7660 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 41443951-41586763 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 41469248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 8 (T8K)
Ref Sequence ENSEMBL: ENSMUSP00000121605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051379] [ENSMUST00000059115] [ENSMUST00000093534] [ENSMUST00000117735] [ENSMUST00000118835] [ENSMUST00000131965]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000051379
SMART Domains Protein: ENSMUSP00000053554
Gene: ENSMUSG00000045636

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 benign
Transcript: ENSMUST00000059115
SMART Domains Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636

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: ENSMUST00000093534
SMART Domains Protein: ENSMUSP00000091252
Gene: ENSMUSG00000045636

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 benign
Transcript: ENSMUST00000117735
SMART Domains Protein: ENSMUSP00000113082
Gene: ENSMUSG00000045636

DomainStartEndE-ValueType
coiled coil region 16 74 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118835
SMART Domains Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636

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: ENSMUST00000131965
AA Change: T8K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121605
Gene: ENSMUSG00000045636
AA Change: T8K

DomainStartEndE-ValueType
coiled coil region 9 67 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency 100% (70/70)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,754,512 (GRCm39) H142L possibly damaging Het
Aadacl2fm3 A G 3: 59,772,689 (GRCm39) I64M probably benign Het
Abca13 A G 11: 9,240,678 (GRCm39) E847G probably benign Het
Abca9 T A 11: 110,006,278 (GRCm39) T1276S probably benign Het
Abcb11 C T 2: 69,117,938 (GRCm39) probably null Het
Alpk1 G C 3: 127,474,616 (GRCm39) H462Q probably damaging Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atm C T 9: 53,356,807 (GRCm39) V2815M probably benign Het
Braf T C 6: 39,600,575 (GRCm39) I681V possibly damaging Het
Casc3 C G 11: 98,700,699 (GRCm39) R4G unknown Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Crybg1 T C 10: 43,874,831 (GRCm39) D759G probably damaging Het
Csrp2 A G 10: 110,773,624 (GRCm39) N103S probably benign Het
Faf1 A T 4: 109,719,034 (GRCm39) H380L probably damaging Het
Farp1 G A 14: 121,514,334 (GRCm39) A888T probably benign Het
Fat4 A T 3: 39,035,309 (GRCm39) Q2987L probably benign Het
Fkbp15 T A 4: 62,232,578 (GRCm39) T665S probably benign Het
Gigyf1 T C 5: 137,519,231 (GRCm39) S343P probably benign Het
Glrx3 A G 7: 137,060,954 (GRCm39) Y196C probably damaging Het
Gm3278 T G 14: 16,080,387 (GRCm39) L66R probably damaging Het
Ifi205 A G 1: 173,855,814 (GRCm39) V72A probably benign Het
Ift140 T G 17: 25,270,798 (GRCm39) L708R probably damaging Het
Ints13 A T 6: 146,458,836 (GRCm39) L328M probably benign Het
Itfg2 A G 6: 128,401,709 (GRCm39) I23T probably damaging Het
Ldha C T 7: 46,499,681 (GRCm39) P100S unknown Het
Lmtk2 T A 5: 144,085,158 (GRCm39) L210H probably damaging Het
Lrrc4 T A 6: 28,829,816 (GRCm39) I600L probably benign Het
Map2 C A 1: 66,453,536 (GRCm39) P809T probably damaging Het
Matn2 T A 15: 34,423,874 (GRCm39) C577* probably null Het
Matn2 A G 15: 34,403,092 (GRCm39) K439R probably benign Het
Mep1a C T 17: 43,789,868 (GRCm39) G494S probably benign Het
Mtmr4 T C 11: 87,495,406 (GRCm39) F488L probably damaging Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Mybpc1 T C 10: 88,384,716 (GRCm39) T523A possibly damaging Het
Ncoa3 C T 2: 165,911,241 (GRCm39) P1334S probably benign Het
Neb T G 2: 52,139,451 (GRCm39) M119L Het
Nox4 T C 7: 87,019,230 (GRCm39) Y408H probably damaging Het
Nxpe3 C T 16: 55,664,690 (GRCm39) R510Q probably damaging Het
Or4c58 T C 2: 89,674,787 (GRCm39) T177A probably benign Het
Or4f52 C T 2: 111,061,960 (GRCm39) M59I probably damaging Het
Or5p60 A G 7: 107,724,041 (GRCm39) V143A probably benign Het
Or6c214 C A 10: 129,590,432 (GRCm39) E296* probably null Het
Or7g23 T C 9: 19,086,804 (GRCm39) H56R probably benign Het
Or8k31-ps1 A T 2: 86,356,174 (GRCm39) S116T possibly damaging Het
Paip1 C T 13: 119,587,306 (GRCm39) T390I possibly damaging Het
Pax8 T C 2: 24,326,573 (GRCm39) Y263C probably benign Het
Pcdha11 T A 18: 37,138,904 (GRCm39) Y178N probably benign Het
Pcdhga11 C T 18: 37,890,183 (GRCm39) T397M possibly damaging Het
Pdlim5 G T 3: 141,964,946 (GRCm39) H428N probably damaging Het
Pigg G A 5: 108,486,485 (GRCm39) V713I probably benign Het
Rgs3 A G 4: 62,619,349 (GRCm39) D478G possibly damaging Het
Scgb2b11 C T 7: 31,909,883 (GRCm39) E68K probably damaging Het
Sema4b C A 7: 79,869,995 (GRCm39) Q428K probably benign Het
Semp2l2a A T 8: 13,887,995 (GRCm39) I32K probably benign Het
Serpine2 T C 1: 79,780,622 (GRCm39) T276A probably benign Het
Sgo2b G A 8: 64,393,108 (GRCm39) H110Y probably benign Het
Slc12a7 T C 13: 73,954,208 (GRCm39) L833S probably benign Het
Slc6a15 T A 10: 103,229,241 (GRCm39) probably null Het
Srfbp1 G A 18: 52,608,671 (GRCm39) V24I probably damaging Het
Stpg2 A T 3: 139,407,458 (GRCm39) N537Y probably damaging Het
Svep1 A T 4: 58,087,782 (GRCm39) S1766T probably benign Het
Tiam2 T A 17: 3,532,880 (GRCm39) M1K probably null Het
Tmem245 A T 4: 56,899,170 (GRCm39) I661K possibly damaging Het
Trim5 T C 7: 103,928,569 (GRCm39) H124R probably damaging Het
Trim67 T A 8: 125,547,024 (GRCm39) L478Q probably damaging Het
Triml2 A G 8: 43,646,357 (GRCm39) D282G probably damaging Het
Txndc11 T C 16: 10,905,793 (GRCm39) Y579C probably damaging Het
Ube3c T A 5: 29,824,629 (GRCm39) D551E probably damaging Het
Vmn1r194 T C 13: 22,428,767 (GRCm39) V128A not run Het
Vmn2r130 T A 17: 23,296,006 (GRCm39) D725E probably damaging Het
Vmn2r70 T G 7: 85,218,130 (GRCm39) N56T probably damaging Het
Wdr95 T C 5: 149,517,945 (GRCm39) V501A possibly damaging Het
Zc3h8 T C 2: 128,772,742 (GRCm39) T249A probably damaging Het
Zfp54 T C 17: 21,654,501 (GRCm39) C332R 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
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
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'- GTTGATTTCACCCAGCTACACAG -3'
(R):5'- GCAAGTCTAGACTGCAGAGAC -3'

Sequencing Primer
(F):5'- AGCAGTTTCCAAGGACTCTTAC -3'
(R):5'- GAGACCAGTCTCGTGCTCTCTG -3'
Posted On 2019-11-12