Incidental Mutation 'R3907:Trip12'
ID 310223
Institutional Source Beutler Lab
Gene Symbol Trip12
Ensembl Gene ENSMUSG00000026219
Gene Name thyroid hormone receptor interactor 12
Synonyms Gtl6, 1110036I07Rik, 6720416K24Rik
MMRRC Submission 040908-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3907 (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 84709827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 469 (T469A)
Ref Sequence ENSEMBL: ENSMUSP00000140789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027421] [ENSMUST00000186465] [ENSMUST00000186648] [ENSMUST00000187733] [ENSMUST00000189670]
AlphaFold G5E870
Predicted Effect probably benign
Transcript: ENSMUST00000027421
AA Change: T1664A

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027421
Gene: ENSMUSG00000026219
AA Change: T1664A

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: ENSMUST00000185720
Predicted Effect probably benign
Transcript: ENSMUST00000186465
AA Change: T1664A

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140224
Gene: ENSMUSG00000026219
AA Change: T1664A

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 benign
Transcript: ENSMUST00000186648
AA Change: T1631A

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139563
Gene: ENSMUSG00000026219
AA Change: T1631A

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: ENSMUST00000187733
Predicted Effect possibly damaging
Transcript: ENSMUST00000189670
AA Change: T469A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140789
Gene: ENSMUSG00000026219
AA Change: T469A

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 noncoding transcript
Transcript: ENSMUST00000191187
Meta Mutation Damage Score 0.4631 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency 97% (56/58)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 C A 5: 90,009,214 (GRCm39) G150C probably damaging Het
Ampd3 A G 7: 110,392,877 (GRCm39) D215G possibly damaging Het
Ank2 A G 3: 126,810,547 (GRCm39) L513P probably damaging Het
Apba1 T C 19: 23,914,870 (GRCm39) I690T probably damaging Het
Arid1a T C 4: 133,420,223 (GRCm39) probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Asns C T 6: 7,682,270 (GRCm39) probably null Het
Aspg T A 12: 112,078,693 (GRCm39) Y57* probably null Het
Asph T C 4: 9,474,934 (GRCm39) K680R probably benign Het
Atp2b4 A T 1: 133,666,324 (GRCm39) S243T probably damaging Het
Cacna1s T A 1: 136,012,007 (GRCm39) M483K probably damaging Het
Car4 G A 11: 84,855,183 (GRCm39) V141M probably damaging Het
Cct4 A G 11: 22,951,560 (GRCm39) I376V probably benign Het
Chrm4 C T 2: 91,758,084 (GRCm39) A164V probably damaging Het
Csf3r A T 4: 125,928,240 (GRCm39) D291V probably benign Het
Dcaf6 A T 1: 165,251,949 (GRCm39) C58* probably null Het
Ddi2 T C 4: 141,411,592 (GRCm39) D440G probably benign Het
Defb4 A T 8: 19,251,277 (GRCm39) Q48L possibly damaging Het
Dnaaf9 C T 2: 130,578,496 (GRCm39) A663T probably damaging Het
Duox2 C T 2: 122,113,541 (GRCm39) probably null Het
E130308A19Rik C T 4: 59,752,393 (GRCm39) T502I probably benign Het
Ephb1 A G 9: 101,878,925 (GRCm39) C522R probably benign Het
Fam76a T C 4: 132,643,432 (GRCm39) K101E probably damaging Het
Fat1 G C 8: 45,476,072 (GRCm39) R1706T probably benign Het
Fn1 C T 1: 71,647,072 (GRCm39) G1482R probably damaging Het
Gm10110 T C 14: 90,135,583 (GRCm39) noncoding transcript Het
Gphn T A 12: 78,540,716 (GRCm39) probably benign Het
Hars1 A T 18: 36,915,769 (GRCm39) D48E probably benign Het
Hmgcll1 G A 9: 75,979,943 (GRCm39) R111H probably benign Het
Ighv3-4 A G 12: 114,217,538 (GRCm39) S18P probably damaging Het
Iws1 G A 18: 32,212,973 (GRCm39) E134K possibly damaging Het
Kcnj4 G T 15: 79,369,946 (GRCm39) H11Q probably benign Het
Krt16 A G 11: 100,137,989 (GRCm39) V329A possibly damaging Het
Loxhd1 A T 18: 77,496,464 (GRCm39) M1575L possibly damaging Het
Mapkapk2 A T 1: 130,984,651 (GRCm39) S234T probably damaging Het
Mxd1 G T 6: 86,627,942 (GRCm39) Q199K probably benign Het
Nlrp5 T A 7: 23,133,071 (GRCm39) D905E possibly damaging Het
Or4c117 A C 2: 88,955,927 (GRCm39) Y49* probably null Het
Or6z7 A T 7: 6,483,678 (GRCm39) V159D probably damaging Het
Otoa A T 7: 120,724,788 (GRCm39) Q489L probably damaging Het
Pced1b T C 15: 97,282,431 (GRCm39) S157P probably damaging Het
Ppp1r16b T C 2: 158,603,410 (GRCm39) I345T probably benign Het
Prrt4 G T 6: 29,177,173 (GRCm39) L199M probably damaging Het
Ptpn6 T C 6: 124,702,239 (GRCm39) D347G possibly damaging Het
Pwwp3a T C 10: 80,074,150 (GRCm39) V401A probably damaging Het
Rcan1 A G 16: 92,262,917 (GRCm39) probably benign Het
Rif1 C T 2: 52,002,557 (GRCm39) L2004F probably benign Het
Rnf185 A G 11: 3,376,681 (GRCm39) probably benign Het
Shank2 C T 7: 143,963,313 (GRCm39) P307L probably damaging Het
Slc19a3 G A 1: 82,992,534 (GRCm39) R396C possibly damaging Het
Stn1 T C 19: 47,496,262 (GRCm39) D321G probably damaging Het
Taar7a T C 10: 23,868,457 (GRCm39) Y308C probably benign Het
Tespa1 T C 10: 130,192,666 (GRCm39) probably benign Het
Tmcc2 T C 1: 132,288,376 (GRCm39) D359G probably damaging Het
Trhde C T 10: 114,636,601 (GRCm39) G202E possibly damaging Het
Trip4 A G 9: 65,740,708 (GRCm39) I533T probably benign Het
Tsc22d1 T C 14: 76,653,983 (GRCm39) I154T probably damaging Het
Ttn C A 2: 76,733,686 (GRCm39) probably benign Het
Ugt8a T C 3: 125,708,631 (GRCm39) T160A possibly damaging Het
Usp54 A T 14: 20,636,181 (GRCm39) S288T probably damaging Het
Utrn C T 10: 12,585,926 (GRCm39) probably benign 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
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'- AATGGCCTCCAGAGCTAGAAG -3'
(R):5'- CTTGAGCTTTGCGGCAAACAC -3'

Sequencing Primer
(F):5'- GACCCTCCCACTGGATAAATGAG -3'
(R):5'- TTGCGGCAAACACGAGCTTTTAG -3'
Posted On 2015-04-17