Incidental Mutation 'R0464:Mtus1'
ID 71429
Institutional Source Beutler Lab
Gene Symbol Mtus1
Ensembl Gene ENSMUSG00000045636
Gene Name mitochondrial tumor suppressor 1
Synonyms MTSG1, B430305I03Rik, MD44, Atip1
MMRRC Submission 038664-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R0464 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 41443951-41586763 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41455511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 56 (D56G)
Ref Sequence ENSEMBL: ENSMUSP00000113082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051379] [ENSMUST00000059115] [ENSMUST00000093534] [ENSMUST00000117735] [ENSMUST00000118835] [ENSMUST00000131965]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000051379
AA Change: D150G

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000053554
Gene: ENSMUSG00000045636
AA Change: D150G

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 possibly damaging
Transcript: ENSMUST00000059115
AA Change: D920G

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: D920G

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: ENSMUST00000093534
AA Change: D230G

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091252
Gene: ENSMUSG00000045636
AA Change: D230G

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: ENSMUST00000117735
AA Change: D56G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113082
Gene: ENSMUSG00000045636
AA Change: D56G

DomainStartEndE-ValueType
coiled coil region 16 74 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118835
AA Change: D920G

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: D920G

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: ENSMUST00000131965
AA Change: D49G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121605
Gene: ENSMUSG00000045636
AA Change: D49G

DomainStartEndE-ValueType
coiled coil region 9 67 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155626
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (80/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada G T 2: 163,574,884 (GRCm39) Y84* probably null Het
Adar T A 3: 89,642,889 (GRCm39) C257S possibly damaging Het
Adgrd1 G T 5: 129,239,714 (GRCm39) C507F probably damaging Het
Atp5f1a T C 18: 77,867,622 (GRCm39) Y299H probably benign Het
Bok G T 1: 93,621,935 (GRCm39) R77L probably damaging Het
Cdx2 C A 5: 147,243,283 (GRCm39) K170N possibly damaging Het
Ceacam1 A G 7: 25,171,442 (GRCm39) S341P possibly damaging Het
Cfhr3 A T 1: 139,521,683 (GRCm39) noncoding transcript Het
Ckap5 A G 2: 91,409,858 (GRCm39) I947V probably benign Het
Clec2i T C 6: 128,872,386 (GRCm39) Y173H probably damaging Het
Cttnbp2 T C 6: 18,408,690 (GRCm39) D977G possibly damaging Het
Cyp2f2 C A 7: 26,831,962 (GRCm39) Q406K probably benign Het
Ddx28 A G 8: 106,736,685 (GRCm39) S458P probably damaging Het
Dppa3 T A 6: 122,605,492 (GRCm39) probably null Het
Dusp10 C A 1: 183,801,273 (GRCm39) L347I probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fbxl15 A T 19: 46,316,951 (GRCm39) E13D probably benign Het
Fhit T A 14: 10,991,567 (GRCm38) probably benign Het
Fras1 G T 5: 96,784,662 (GRCm39) V882F probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gabbr1 C T 17: 37,361,726 (GRCm39) probably benign Het
Ganc T A 2: 120,267,175 (GRCm39) V497D probably benign Het
Glt8d2 T G 10: 82,490,564 (GRCm39) H242P possibly damaging Het
Gna15 T C 10: 81,348,338 (GRCm39) Y131C probably benign Het
Gpatch8 T C 11: 102,371,712 (GRCm39) K609E unknown Het
Gprc5a A T 6: 135,056,413 (GRCm39) K287* probably null Het
Iqub T A 6: 24,479,262 (GRCm39) K427* probably null Het
Itpr2 C G 6: 146,277,387 (GRCm39) D666H probably damaging Het
Kcnj5 T C 9: 32,234,269 (GRCm39) I15M possibly damaging Het
Kcnn2 A G 18: 45,693,426 (GRCm39) E334G probably damaging Het
Lypd6 T A 2: 50,080,690 (GRCm39) I126N probably damaging Het
Ms4a20 A G 19: 11,089,801 (GRCm39) L28P probably damaging Het
Myo1h A G 5: 114,498,571 (GRCm39) D889G probably damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Nab1 T C 1: 52,529,174 (GRCm39) D241G possibly damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ncbp3 C T 11: 72,960,647 (GRCm39) probably benign Het
Nek1 T A 8: 61,525,307 (GRCm39) probably benign Het
Nf1 T C 11: 79,447,615 (GRCm39) V2452A probably benign Het
Nlrp1b A C 11: 71,109,070 (GRCm39) S144A probably damaging Het
Npr2 A T 4: 43,640,597 (GRCm39) probably null Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC "TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC" X: 142,526,889 (GRCm39) probably benign Het
Paox T A 7: 139,709,195 (GRCm39) probably benign Het
Pcdh15 T A 10: 74,462,676 (GRCm39) probably null Het
Pde8b G A 13: 95,241,206 (GRCm39) T202M probably damaging Het
Pigo A T 4: 43,019,814 (GRCm39) V905D probably benign Het
Pik3cb A G 9: 98,926,796 (GRCm39) probably null Het
Rassf5 T C 1: 131,139,998 (GRCm39) N87S probably benign Het
Rbl1 C A 2: 156,989,465 (GRCm39) K1051N probably damaging Het
Rfx7 T C 9: 72,525,486 (GRCm39) V892A probably damaging Het
Ripply1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT TTCCTCCTCCTCCTCCTCCTCCTCCTCCT X: 138,680,599 (GRCm39) probably benign Het
Rnf144b T A 13: 47,396,363 (GRCm39) Y233* probably null Het
Safb C T 17: 56,913,025 (GRCm39) R914C probably damaging Het
Sbf2 T C 7: 110,063,783 (GRCm39) probably benign Het
Sgo2a A T 1: 58,039,253 (GRCm39) K85N probably damaging Het
Siglec1 A T 2: 130,921,279 (GRCm39) C631S probably damaging Het
Simc1 C T 13: 54,684,913 (GRCm39) R50* probably null Het
Skint5 T A 4: 113,392,928 (GRCm39) M1235L unknown Het
Slc22a19 A T 19: 7,660,278 (GRCm39) N377K probably benign Het
Spata31d1a A G 13: 59,849,573 (GRCm39) F852L possibly damaging Het
Spata31e3 A G 13: 50,402,311 (GRCm39) probably benign Het
Srbd1 G A 17: 86,427,430 (GRCm39) S401F probably damaging Het
Stk36 C A 1: 74,650,331 (GRCm39) Q288K probably damaging Het
Styx T C 14: 45,609,908 (GRCm39) S191P probably benign Het
Supt6 T A 11: 78,107,164 (GRCm39) N1214I probably benign Het
Tcim T A 8: 24,928,644 (GRCm39) D90V probably damaging Het
Tdpoz1 T A 3: 93,578,782 (GRCm39) M1L probably damaging Het
Tep1 T A 14: 51,085,141 (GRCm39) T881S probably benign Het
Tlr5 C T 1: 182,801,275 (GRCm39) A193V probably benign Het
Tmem117 T A 15: 94,612,800 (GRCm39) F112Y probably damaging Het
Tnrc6c C T 11: 117,651,375 (GRCm39) R1633W probably damaging Het
Trh T C 6: 92,220,649 (GRCm39) probably null Het
Triobp A G 15: 78,851,186 (GRCm39) R447G possibly damaging Het
Trip6 A G 5: 137,311,943 (GRCm39) F46S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Usp33 T C 3: 152,081,872 (GRCm39) probably benign Het
Vmn2r60 A T 7: 41,785,255 (GRCm39) I156F probably damaging Het
Wdr17 T C 8: 55,123,427 (GRCm39) probably benign Het
Wdr35 G T 12: 9,077,472 (GRCm39) probably benign Het
Wwp1 C T 4: 19,638,763 (GRCm39) probably benign Het
Zfp652 T C 11: 95,654,475 (GRCm39) C293R 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
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
Predicted Primers PCR Primer
(F):5'- ACAGCATCTAGAACGGCAGCAG -3'
(R):5'- TAAGGTCCACCACCATCCTTTGGC -3'

Sequencing Primer
(F):5'- TAGAACGGCAGCAGACAGC -3'
(R):5'- GGAGCCTCCTTTGATGGAC -3'
Posted On 2013-09-30