Incidental Mutation 'R5914:Trip12'
ID 461158
Institutional Source Beutler Lab
Gene Symbol Trip12
Ensembl Gene ENSMUSG00000026219
Gene Name thyroid hormone receptor interactor 12
Synonyms Gtl6, 1110036I07Rik, 6720416K24Rik
MMRRC Submission 044111-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5914 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 84698910-84818237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84741179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 571 (E571G)
Ref Sequence ENSEMBL: ENSMUSP00000139563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027421] [ENSMUST00000185909] [ENSMUST00000186465] [ENSMUST00000186648] [ENSMUST00000186894]
AlphaFold G5E870
Predicted Effect probably damaging
Transcript: ENSMUST00000027421
AA Change: E577G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027421
Gene: ENSMUSG00000026219
AA Change: E577G

DomainStartEndE-ValueType
low complexity region 34 39 N/A INTRINSIC
low complexity region 153 172 N/A INTRINSIC
low complexity region 177 188 N/A INTRINSIC
low complexity region 191 215 N/A INTRINSIC
low complexity region 231 247 N/A INTRINSIC
low complexity region 379 391 N/A INTRINSIC
low complexity region 392 406 N/A INTRINSIC
low complexity region 416 427 N/A INTRINSIC
SCOP:d1ee4a_ 446 660 5e-20 SMART
PDB:1WA5|B 447 641 1e-5 PDB
Pfam:WWE 765 831 7.6e-22 PFAM
low complexity region 983 1006 N/A INTRINSIC
low complexity region 1033 1047 N/A INTRINSIC
low complexity region 1062 1073 N/A INTRINSIC
low complexity region 1333 1344 N/A INTRINSIC
low complexity region 1345 1362 N/A INTRINSIC
Blast:HECTc 1363 1417 8e-8 BLAST
Blast:HECTc 1573 1629 2e-24 BLAST
HECTc 1636 2025 1.29e-177 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185567
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185672
Predicted Effect probably benign
Transcript: ENSMUST00000185909
SMART Domains Protein: ENSMUSP00000139986
Gene: ENSMUSG00000026219

DomainStartEndE-ValueType
low complexity region 195 214 N/A INTRINSIC
low complexity region 219 230 N/A INTRINSIC
low complexity region 233 257 N/A INTRINSIC
low complexity region 273 289 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186465
AA Change: E577G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140224
Gene: ENSMUSG00000026219
AA Change: E577G

DomainStartEndE-ValueType
low complexity region 34 39 N/A INTRINSIC
low complexity region 153 172 N/A INTRINSIC
low complexity region 177 188 N/A INTRINSIC
low complexity region 191 215 N/A INTRINSIC
low complexity region 231 247 N/A INTRINSIC
low complexity region 379 391 N/A INTRINSIC
low complexity region 392 406 N/A INTRINSIC
low complexity region 416 427 N/A INTRINSIC
SCOP:d1ee4a_ 446 660 5e-20 SMART
PDB:1WA5|B 447 641 1e-5 PDB
Pfam:WWE 761 831 2.2e-22 PFAM
low complexity region 983 1006 N/A INTRINSIC
low complexity region 1033 1047 N/A INTRINSIC
low complexity region 1062 1073 N/A INTRINSIC
low complexity region 1333 1344 N/A INTRINSIC
low complexity region 1345 1362 N/A INTRINSIC
Blast:HECTc 1363 1417 8e-8 BLAST
Blast:HECTc 1573 1629 2e-24 BLAST
HECTc 1636 2025 1.29e-177 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186648
AA Change: E571G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139563
Gene: ENSMUSG00000026219
AA Change: E571G

DomainStartEndE-ValueType
low complexity region 34 39 N/A INTRINSIC
low complexity region 153 172 N/A INTRINSIC
low complexity region 177 188 N/A INTRINSIC
low complexity region 191 215 N/A INTRINSIC
low complexity region 231 247 N/A INTRINSIC
low complexity region 386 400 N/A INTRINSIC
low complexity region 410 421 N/A INTRINSIC
SCOP:d1ee4a_ 440 654 5e-20 SMART
PDB:1WA5|B 441 635 1e-5 PDB
low complexity region 950 973 N/A INTRINSIC
low complexity region 1000 1014 N/A INTRINSIC
low complexity region 1029 1040 N/A INTRINSIC
low complexity region 1300 1311 N/A INTRINSIC
low complexity region 1312 1329 N/A INTRINSIC
Blast:HECTc 1330 1384 7e-8 BLAST
Blast:HECTc 1540 1596 2e-24 BLAST
HECTc 1603 1992 6.2e-180 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186894
AA Change: E577G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140267
Gene: ENSMUSG00000026219
AA Change: E577G

DomainStartEndE-ValueType
low complexity region 34 39 N/A INTRINSIC
low complexity region 153 172 N/A INTRINSIC
low complexity region 177 188 N/A INTRINSIC
low complexity region 191 215 N/A INTRINSIC
low complexity region 231 247 N/A INTRINSIC
low complexity region 379 391 N/A INTRINSIC
low complexity region 392 406 N/A INTRINSIC
low complexity region 416 427 N/A INTRINSIC
SCOP:d1ee4a_ 446 660 3e-20 SMART
PDB:1WA5|B 447 641 7e-6 PDB
Blast:ARM 476 516 6e-6 BLAST
WWE 764 839 6.9e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190464
Meta Mutation Damage Score 0.3835 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 95% (87/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a targeted allele exhibit complete embryonic lethality during organogenesis associated with embryonic growth retardation and abnormal placenta development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,410,219 (GRCm39) R286H possibly damaging Het
Ank3 A T 10: 69,828,774 (GRCm39) probably benign Het
Arhgap24 G A 5: 102,700,025 (GRCm39) probably null Het
Arhgef2 T C 3: 88,543,176 (GRCm39) Y396H probably benign Het
Asap3 G T 4: 135,968,720 (GRCm39) G722C probably benign Het
Birc2 A C 9: 7,857,343 (GRCm39) *377E probably null Het
Cdc123 G T 2: 5,803,174 (GRCm39) Q282K possibly damaging Het
Cdkl4 C T 17: 80,855,120 (GRCm39) probably null Het
Cep97 T C 16: 55,725,820 (GRCm39) N689S probably benign Het
Cfap97 T G 8: 46,634,895 (GRCm39) S407A probably damaging Het
Cfh A T 1: 140,063,967 (GRCm39) N436K probably benign Het
Chpf2 A T 5: 24,797,421 (GRCm39) probably benign Het
Cnnm2 A G 19: 46,751,616 (GRCm39) T469A probably benign Het
Col6a3 T A 1: 90,703,922 (GRCm39) I2275F unknown Het
Ctdspl2 A T 2: 121,809,414 (GRCm39) N122Y probably damaging Het
Dcaf6 A T 1: 165,178,724 (GRCm39) C602S probably benign Het
Dda1 T A 8: 71,927,294 (GRCm39) probably benign Het
Dixdc1 T C 9: 50,609,888 (GRCm39) probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Emilin3 T A 2: 160,750,990 (GRCm39) N253I probably damaging Het
Epg5 T A 18: 78,002,847 (GRCm39) probably null Het
Fam204a A T 19: 60,209,525 (GRCm39) Y68* probably null Het
Fbln5 T G 12: 101,727,002 (GRCm39) D329A possibly damaging Het
Fkbp15 T A 4: 62,246,047 (GRCm39) probably null Het
Fnbp4 C G 2: 90,605,137 (GRCm39) probably benign Het
Foxn2 C A 17: 88,770,138 (GRCm39) probably null Het
Frem1 T C 4: 82,920,012 (GRCm39) D448G probably damaging Het
Fzd9 T C 5: 135,278,199 (GRCm39) Y562C probably benign Het
Gcn1 A G 5: 115,748,194 (GRCm39) silent Het
Gm6003 A G 7: 32,864,691 (GRCm39) noncoding transcript Het
Gnl3 C A 14: 30,738,853 (GRCm39) E65D possibly damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hk2 C T 6: 82,713,615 (GRCm39) R461K probably benign Het
Ice1 A G 13: 70,754,496 (GRCm39) F530S possibly damaging Het
Ing3 T A 6: 21,968,904 (GRCm39) S129T probably benign Het
Ino80 G A 2: 119,288,697 (GRCm39) S3L probably damaging Het
Ints2 T A 11: 86,113,000 (GRCm39) Q839H probably benign Het
Kcnrg T C 14: 61,849,280 (GRCm39) M247T probably benign Het
Kpna6 T C 4: 129,566,485 (GRCm39) probably benign Het
Krtap28-13 T A 1: 83,039,044 (GRCm39) probably benign Het
Lgr4 T A 2: 109,748,617 (GRCm39) V51E possibly damaging Het
Map3k5 A C 10: 19,980,001 (GRCm39) E836D probably benign Het
Mapk11 T C 15: 89,030,038 (GRCm39) I193V probably benign Het
Marchf10 A T 11: 105,276,308 (GRCm39) V660E probably damaging Het
Matn4 T C 2: 164,235,144 (GRCm39) E435G probably damaging Het
Mre11a G T 9: 14,723,232 (GRCm39) R402M probably damaging Het
Msr1 C T 8: 40,034,868 (GRCm39) G428R probably damaging Het
Ndufv3 C T 17: 31,750,206 (GRCm39) R99* probably null Het
Nkx6-1 C T 5: 101,811,847 (GRCm39) S85N unknown Het
Nop2 A T 6: 125,111,691 (GRCm39) E141D probably benign Het
Or5b3 A G 19: 13,388,326 (GRCm39) H131R probably benign Het
Or8b1 G C 9: 38,399,657 (GRCm39) E111Q probably damaging Het
Paox T C 7: 139,709,101 (GRCm39) S205P probably damaging Het
Pcdh15 T C 10: 74,466,768 (GRCm39) V995A probably benign Het
Pdcd1 T A 1: 93,968,550 (GRCm39) K161N probably benign Het
Pfkfb2 C A 1: 130,627,832 (GRCm39) V372L probably damaging Het
Phldb1 G A 9: 44,622,948 (GRCm39) T19I probably damaging Het
Pik3c2g G T 6: 139,599,477 (GRCm39) V198L probably benign Het
Pnpla8 T A 12: 44,342,753 (GRCm39) L41* probably null Het
Postn C T 3: 54,281,221 (GRCm39) Q449* probably null Het
Ppp1r3a C T 6: 14,718,988 (GRCm39) S642N probably benign Het
Ptpn23 G A 9: 110,214,511 (GRCm39) probably benign Het
Ptprj T C 2: 90,283,684 (GRCm39) N923S possibly damaging Het
Rai1 T C 11: 60,078,630 (GRCm39) V898A probably benign Het
Rasgef1a A T 6: 118,057,515 (GRCm39) Y72F possibly damaging Het
Serpinb7 T C 1: 107,379,580 (GRCm39) V329A probably damaging Het
Slc24a4 T A 12: 102,201,049 (GRCm39) I311N probably damaging Het
Slc45a1 C A 4: 150,713,997 (GRCm39) L749F possibly damaging Het
Spon1 G A 7: 113,630,056 (GRCm39) D428N probably damaging Het
Tcf7l2 G A 19: 55,886,992 (GRCm39) E2K probably benign Het
Thoc5 A G 11: 4,870,416 (GRCm39) M472V possibly damaging Het
Tm6sf2 T C 8: 70,528,213 (GRCm39) Y121H probably damaging Het
Tmc4 T A 7: 3,675,008 (GRCm39) D221V probably benign Het
Trim30b A T 7: 104,006,572 (GRCm39) S95T probably damaging Het
Ttn T C 2: 76,781,656 (GRCm39) probably null Het
Ubp1 A T 9: 113,785,807 (GRCm39) R161W probably benign Het
Usp21 G A 1: 171,109,745 (GRCm39) probably benign Het
Vmn1r61 T A 7: 5,613,529 (GRCm39) R262W probably damaging Het
Vmn2r67 A T 7: 84,801,044 (GRCm39) D297E probably damaging Het
Vwa5a T C 9: 38,653,038 (GRCm39) L784S probably benign Het
Vwc2 G A 11: 11,104,244 (GRCm39) V259M probably damaging Het
Zeb2 T C 2: 44,887,064 (GRCm39) I596M probably benign Het
Zgrf1 T A 3: 127,354,672 (GRCm39) L97H probably damaging Het
Other mutations in Trip12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Trip12 APN 1 84,708,262 (GRCm39) missense probably damaging 1.00
IGL00430:Trip12 APN 1 84,741,582 (GRCm39) missense probably damaging 0.96
IGL00465:Trip12 APN 1 84,741,582 (GRCm39) missense probably damaging 0.96
IGL00819:Trip12 APN 1 84,731,993 (GRCm39) missense probably damaging 1.00
IGL00900:Trip12 APN 1 84,702,485 (GRCm39) missense possibly damaging 0.56
IGL00990:Trip12 APN 1 84,729,605 (GRCm39) missense probably damaging 0.99
IGL01087:Trip12 APN 1 84,735,580 (GRCm39) missense probably damaging 0.99
IGL01400:Trip12 APN 1 84,729,699 (GRCm39) missense probably damaging 0.99
IGL01521:Trip12 APN 1 84,743,919 (GRCm39) splice site probably benign
IGL01619:Trip12 APN 1 84,792,631 (GRCm39) missense probably damaging 0.99
IGL01796:Trip12 APN 1 84,705,999 (GRCm39) missense probably benign 0.42
IGL01975:Trip12 APN 1 84,792,534 (GRCm39) splice site probably benign
IGL02190:Trip12 APN 1 84,743,791 (GRCm39) missense probably damaging 0.98
IGL02474:Trip12 APN 1 84,771,854 (GRCm39) missense probably benign
IGL02517:Trip12 APN 1 84,721,535 (GRCm39) unclassified probably benign
IGL02631:Trip12 APN 1 84,743,729 (GRCm39) missense possibly damaging 0.91
IGL02991:Trip12 APN 1 84,716,536 (GRCm39) missense probably damaging 1.00
IGL03161:Trip12 APN 1 84,738,853 (GRCm39) unclassified probably benign
IGL03388:Trip12 APN 1 84,720,907 (GRCm39) missense probably damaging 0.99
cardamom UTSW 1 84,726,997 (GRCm39) missense probably damaging 0.99
pungent UTSW 1 84,771,636 (GRCm39) missense possibly damaging 0.70
spices UTSW 1 84,771,596 (GRCm39) missense probably benign 0.10
sulfuric UTSW 1 84,736,771 (GRCm39) missense probably benign 0.19
Turmeric UTSW 1 84,732,064 (GRCm39) missense probably benign 0.07
LCD18:Trip12 UTSW 1 84,754,482 (GRCm38) unclassified probably benign
R0090:Trip12 UTSW 1 84,709,857 (GRCm39) splice site probably benign
R0111:Trip12 UTSW 1 84,736,854 (GRCm39) unclassified probably benign
R0471:Trip12 UTSW 1 84,703,928 (GRCm39) missense probably damaging 1.00
R0486:Trip12 UTSW 1 84,738,805 (GRCm39) nonsense probably null
R0557:Trip12 UTSW 1 84,702,468 (GRCm39) missense probably damaging 1.00
R0570:Trip12 UTSW 1 84,729,269 (GRCm39) missense probably damaging 1.00
R0614:Trip12 UTSW 1 84,735,482 (GRCm39) missense probably damaging 1.00
R0627:Trip12 UTSW 1 84,746,318 (GRCm39) missense probably damaging 1.00
R0630:Trip12 UTSW 1 84,771,636 (GRCm39) missense possibly damaging 0.70
R0657:Trip12 UTSW 1 84,736,771 (GRCm39) missense probably benign 0.19
R0741:Trip12 UTSW 1 84,722,902 (GRCm39) missense probably benign 0.09
R0862:Trip12 UTSW 1 84,721,730 (GRCm39) missense probably damaging 0.99
R0864:Trip12 UTSW 1 84,721,730 (GRCm39) missense probably damaging 0.99
R1124:Trip12 UTSW 1 84,714,758 (GRCm39) missense probably damaging 1.00
R1252:Trip12 UTSW 1 84,754,071 (GRCm39) nonsense probably null
R1455:Trip12 UTSW 1 84,736,821 (GRCm39) missense probably benign 0.01
R1487:Trip12 UTSW 1 84,746,352 (GRCm39) missense probably damaging 1.00
R1702:Trip12 UTSW 1 84,722,784 (GRCm39) missense probably damaging 1.00
R1781:Trip12 UTSW 1 84,708,342 (GRCm39) missense probably benign 0.01
R1847:Trip12 UTSW 1 84,726,990 (GRCm39) missense probably damaging 1.00
R1854:Trip12 UTSW 1 84,705,866 (GRCm39) missense probably damaging 1.00
R1866:Trip12 UTSW 1 84,722,781 (GRCm39) missense probably damaging 1.00
R1926:Trip12 UTSW 1 84,727,012 (GRCm39) missense probably damaging 0.98
R1935:Trip12 UTSW 1 84,771,822 (GRCm39) missense possibly damaging 0.46
R1950:Trip12 UTSW 1 84,738,522 (GRCm39) missense probably damaging 1.00
R1994:Trip12 UTSW 1 84,726,893 (GRCm39) missense probably damaging 1.00
R2014:Trip12 UTSW 1 84,738,587 (GRCm39) nonsense probably null
R2391:Trip12 UTSW 1 84,792,511 (GRCm39) frame shift probably null
R2423:Trip12 UTSW 1 84,792,511 (GRCm39) frame shift probably null
R2433:Trip12 UTSW 1 84,721,544 (GRCm39) missense possibly damaging 0.84
R2905:Trip12 UTSW 1 84,732,064 (GRCm39) missense probably benign 0.07
R3040:Trip12 UTSW 1 84,719,966 (GRCm39) missense probably benign 0.13
R3735:Trip12 UTSW 1 84,792,511 (GRCm39) frame shift probably null
R3907:Trip12 UTSW 1 84,709,827 (GRCm39) missense possibly damaging 0.53
R4394:Trip12 UTSW 1 84,703,462 (GRCm39) missense probably damaging 1.00
R4540:Trip12 UTSW 1 84,726,997 (GRCm39) missense probably damaging 0.99
R4859:Trip12 UTSW 1 84,771,531 (GRCm39) missense probably damaging 0.99
R5240:Trip12 UTSW 1 84,771,854 (GRCm39) missense probably benign
R5278:Trip12 UTSW 1 84,739,868 (GRCm39) missense probably damaging 1.00
R5377:Trip12 UTSW 1 84,735,152 (GRCm39) missense probably damaging 1.00
R5510:Trip12 UTSW 1 84,746,401 (GRCm39) missense probably damaging 1.00
R5542:Trip12 UTSW 1 84,727,065 (GRCm39) missense probably damaging 1.00
R5550:Trip12 UTSW 1 84,738,820 (GRCm39) missense probably damaging 0.99
R5886:Trip12 UTSW 1 84,708,179 (GRCm39) intron probably benign
R5893:Trip12 UTSW 1 84,736,884 (GRCm39) unclassified probably benign
R5925:Trip12 UTSW 1 84,726,974 (GRCm39) nonsense probably null
R5985:Trip12 UTSW 1 84,703,492 (GRCm39) missense probably damaging 0.99
R6135:Trip12 UTSW 1 84,738,559 (GRCm39) missense probably benign 0.00
R6158:Trip12 UTSW 1 84,738,733 (GRCm39) missense possibly damaging 0.84
R6419:Trip12 UTSW 1 84,771,591 (GRCm39) missense probably damaging 1.00
R6816:Trip12 UTSW 1 84,771,435 (GRCm39) missense probably damaging 0.99
R7144:Trip12 UTSW 1 84,771,435 (GRCm39) missense probably damaging 0.99
R7194:Trip12 UTSW 1 84,771,943 (GRCm39) missense probably benign 0.07
R7355:Trip12 UTSW 1 84,792,604 (GRCm39) missense probably damaging 1.00
R7361:Trip12 UTSW 1 84,728,163 (GRCm39) missense probably damaging 0.98
R7588:Trip12 UTSW 1 84,738,604 (GRCm39) missense probably damaging 0.99
R7705:Trip12 UTSW 1 84,755,170 (GRCm39) missense probably damaging 1.00
R7818:Trip12 UTSW 1 84,738,527 (GRCm39) missense probably damaging 1.00
R7918:Trip12 UTSW 1 84,722,784 (GRCm39) missense probably damaging 0.98
R8127:Trip12 UTSW 1 84,716,463 (GRCm39) missense probably damaging 0.99
R8221:Trip12 UTSW 1 84,743,771 (GRCm39) missense possibly damaging 0.80
R8336:Trip12 UTSW 1 84,743,762 (GRCm39) missense probably benign 0.37
R8373:Trip12 UTSW 1 84,773,488 (GRCm39) missense probably damaging 0.98
R8719:Trip12 UTSW 1 84,722,790 (GRCm39) missense probably damaging 0.98
R8771:Trip12 UTSW 1 84,721,018 (GRCm39) unclassified probably benign
R8997:Trip12 UTSW 1 84,771,596 (GRCm39) missense probably benign 0.10
R9146:Trip12 UTSW 1 84,771,881 (GRCm39) missense possibly damaging 0.89
R9236:Trip12 UTSW 1 84,703,550 (GRCm39) missense probably damaging 1.00
R9338:Trip12 UTSW 1 84,727,019 (GRCm39) missense probably damaging 0.99
R9391:Trip12 UTSW 1 84,773,473 (GRCm39) missense probably benign 0.00
R9516:Trip12 UTSW 1 84,735,215 (GRCm39) missense probably damaging 1.00
X0023:Trip12 UTSW 1 84,738,508 (GRCm39) missense probably benign 0.12
X0065:Trip12 UTSW 1 84,726,884 (GRCm39) missense probably benign 0.21
Z1088:Trip12 UTSW 1 84,743,889 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACAATTATATGACTGGACAACAC -3'
(R):5'- GTTGAACTACATTGTGCTAATTCCTTG -3'

Sequencing Primer
(F):5'- TGACTGGACAACACATTTCAATAG -3'
(R):5'- GACTGTAGCTCTGTAAGATGCAC -3'
Posted On 2017-02-28