Incidental Mutation 'R1926:Trip12'
ID 213398
Institutional Source Beutler Lab
Gene Symbol Trip12
Ensembl Gene ENSMUSG00000026219
Gene Name thyroid hormone receptor interactor 12
Synonyms Gtl6, 1110036I07Rik, 6720416K24Rik
MMRRC Submission 039944-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1926 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 84698910-84818237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84727012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1153 (V1153A)
Ref Sequence ENSEMBL: ENSMUSP00000139563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027421] [ENSMUST00000185909] [ENSMUST00000186465] [ENSMUST00000186648] [ENSMUST00000189670] [ENSMUST00000189841]
AlphaFold G5E870
Predicted Effect probably damaging
Transcript: ENSMUST00000027421
AA Change: V1186A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027421
Gene: ENSMUSG00000026219
AA Change: V1186A

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 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: V1186A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140224
Gene: ENSMUSG00000026219
AA Change: V1186A

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: V1153A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139563
Gene: ENSMUSG00000026219
AA Change: V1153A

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 benign
Transcript: ENSMUST00000189670
SMART Domains Protein: ENSMUSP00000140789
Gene: ENSMUSG00000026219

DomainStartEndE-ValueType
low complexity region 138 149 N/A INTRINSIC
low complexity region 150 167 N/A INTRINSIC
Blast:HECTc 168 222 5e-8 BLAST
Blast:HECTc 378 434 1e-24 BLAST
HECTc 441 830 6.2e-180 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189841
SMART Domains Protein: ENSMUSP00000140879
Gene: ENSMUSG00000026219

DomainStartEndE-ValueType
low complexity region 1 24 N/A INTRINSIC
low complexity region 51 63 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190125
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 C T 7: 119,376,359 (GRCm39) T362M probably damaging Het
Ang6 A G 14: 44,239,695 (GRCm39) V11A possibly damaging Het
Ankrd17 A G 5: 90,392,028 (GRCm39) Y1880H probably damaging Het
Bmi1 A G 2: 18,687,084 (GRCm39) I55V probably benign Het
Bnipl G A 3: 95,150,354 (GRCm39) T297M probably damaging Het
Bpifa2 T C 2: 153,855,669 (GRCm39) V198A probably benign Het
Brms1l G T 12: 55,909,946 (GRCm39) V239F possibly damaging Het
Ccdc158 A G 5: 92,798,647 (GRCm39) V351A probably benign Het
Ces1c A G 8: 93,854,232 (GRCm39) F101S possibly damaging Het
Cpb2 T C 14: 75,479,837 (GRCm39) Y15H probably benign Het
Dglucy A T 12: 100,833,414 (GRCm39) N535I possibly damaging Het
Dop1a C A 9: 86,405,072 (GRCm39) H1763Q probably damaging Het
Dpy19l1 C T 9: 24,385,120 (GRCm39) M236I probably benign Het
Efna2 T C 10: 80,022,710 (GRCm39) Y85H probably damaging Het
Eipr1 A T 12: 28,914,836 (GRCm39) probably null Het
Eln A T 5: 134,735,421 (GRCm39) Y787* probably null Het
Erbb2 G C 11: 98,315,990 (GRCm39) E364D probably benign Het
F5 A G 1: 164,007,077 (GRCm39) T294A probably damaging Het
Fam47e A G 5: 92,733,244 (GRCm39) T194A possibly damaging Het
Galk1 T C 11: 115,901,073 (GRCm39) D202G probably damaging Het
Glb1l2 T C 9: 26,682,362 (GRCm39) D163G probably damaging Het
Gmip A G 8: 70,268,170 (GRCm39) E408G probably benign Het
Gp1ba A T 11: 70,531,715 (GRCm39) probably benign Het
Grm3 A T 5: 9,554,881 (GRCm39) C804S probably damaging Het
Gzmd A G 14: 56,367,737 (GRCm39) C179R probably damaging Het
Hadhb T A 5: 30,385,935 (GRCm39) L415Q possibly damaging Het
Ift80 T C 3: 68,823,498 (GRCm39) Y588C probably damaging Het
Jazf1 T C 6: 53,045,516 (GRCm39) T13A probably benign Het
Kat8 T A 7: 127,514,467 (GRCm39) Y67* probably null Het
Kcnab1 G A 3: 65,283,933 (GRCm39) E384K possibly damaging Het
Lhx3 A T 2: 26,092,200 (GRCm39) Y230* probably null Het
Lmx1b T A 2: 33,454,674 (GRCm39) M365L probably damaging Het
Ly6k G T 15: 74,669,051 (GRCm39) P76Q probably benign Het
Lypd10 G A 7: 24,413,541 (GRCm39) G186R probably damaging Het
Map1b A T 13: 99,567,200 (GRCm39) H1840Q unknown Het
Map3k2 A G 18: 32,336,163 (GRCm39) I117V probably damaging Het
Med13 C A 11: 86,179,899 (GRCm39) A1350S possibly damaging Het
Midn T C 10: 79,987,495 (GRCm39) S109P probably damaging Het
Msh6 A G 17: 88,293,653 (GRCm39) T803A probably benign Het
Nckap1 T C 2: 80,337,182 (GRCm39) Y1018C probably damaging Het
Ndufc1 A T 3: 51,314,816 (GRCm39) N63K probably benign Het
Neb A T 2: 52,169,647 (GRCm39) S1811R probably damaging Het
Notch1 T C 2: 26,371,669 (GRCm39) D260G probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Oas1g T C 5: 121,017,205 (GRCm39) K283R probably benign Het
Obscn T C 11: 58,954,300 (GRCm39) T4037A Het
Or6b1 T G 6: 42,815,247 (GRCm39) L144R probably damaging Het
Or6b3 A G 1: 92,439,330 (GRCm39) L140P probably damaging Het
Otop2 A T 11: 115,217,781 (GRCm39) T206S probably benign Het
Pamr1 A G 2: 102,471,342 (GRCm39) probably null Het
Pkp1 G A 1: 135,805,411 (GRCm39) T675I probably benign Het
Plxna2 G A 1: 194,444,758 (GRCm39) V717I probably benign Het
Ptgs2 T C 1: 149,975,979 (GRCm39) L2P possibly damaging Het
Rarg A G 15: 102,147,980 (GRCm39) F277S probably damaging Het
Rassf5 A T 1: 131,140,076 (GRCm39) I161N probably damaging Het
Resf1 C T 6: 149,230,902 (GRCm39) T1316I probably benign Het
Rxfp4 A G 3: 88,559,659 (GRCm39) V264A probably benign Het
Secisbp2l T A 2: 125,582,597 (GRCm39) Q953L probably damaging Het
Serpinb9c T C 13: 33,334,218 (GRCm39) I275V probably benign Het
Slc2a12 T C 10: 22,541,141 (GRCm39) V332A probably damaging Het
Slc7a1 T C 5: 148,285,113 (GRCm39) S127G probably damaging Het
Slc7a4 A T 16: 17,393,568 (GRCm39) V77E probably damaging Het
Sp8 G A 12: 118,812,964 (GRCm39) S273N possibly damaging Het
Spag6l G T 16: 16,580,921 (GRCm39) N475K probably benign Het
St18 A G 1: 6,872,913 (GRCm39) H216R probably benign Het
Tcirg1 C T 19: 3,952,843 (GRCm39) probably benign Het
Tmeff1 A G 4: 48,658,788 (GRCm39) Y87C probably damaging Het
Tmem94 T C 11: 115,683,726 (GRCm39) V713A possibly damaging Het
Tnrc6b G T 15: 80,765,363 (GRCm39) R955L probably damaging Het
Tshz3 T C 7: 36,468,800 (GRCm39) L263S probably damaging Het
Tubb6 G A 18: 67,534,391 (GRCm39) probably null Het
Ube3a T C 7: 58,926,127 (GRCm39) W302R probably damaging Het
Vcpkmt A T 12: 69,629,519 (GRCm39) V81E probably damaging Het
Vmn1r175 T A 7: 23,508,466 (GRCm39) I54F possibly damaging Het
Vwa8 T A 14: 79,258,075 (GRCm39) N741K probably benign Het
Yeats2 A G 16: 20,033,176 (GRCm39) T1034A probably benign Het
Zc3h6 G A 2: 128,839,715 (GRCm39) R176Q probably damaging Het
Zfp207 T A 11: 80,286,253 (GRCm39) Y424* probably null Het
Zfp729a A G 13: 67,767,676 (GRCm39) V851A probably benign Het
Zkscan1 G T 5: 138,099,625 (GRCm39) A450S probably benign Het
Zkscan3 A G 13: 21,580,616 (GRCm39) V24A possibly 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
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
R5914:Trip12 UTSW 1 84,741,179 (GRCm39) missense probably damaging 1.00
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'- CTGACTCTTAGTACCCATGAGC -3'
(R):5'- TGCTTAACATAGTGACCCTTCCAG -3'

Sequencing Primer
(F):5'- CATGAGCACTATCAACTTACTGGAG -3'
(R):5'- GATCTAAGCCCAGTAGTGCTCTAG -3'
Posted On 2014-07-14