Incidental Mutation 'R7472:Trip11'
ID 581323
Institutional Source Beutler Lab
Gene Symbol Trip11
Ensembl Gene ENSMUSG00000021188
Gene Name thyroid hormone receptor interactor 11
Synonyms 3110031G15Rik, TRIP230, 2610511G22Rik, GMAP-210, 6030460N08Rik
MMRRC Submission 045546-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7472 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 101800304-101879463 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101851639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 808 (N808K)
Ref Sequence ENSEMBL: ENSMUSP00000021605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021605] [ENSMUST00000176728] [ENSMUST00000177183] [ENSMUST00000177536]
AlphaFold E9Q512
Predicted Effect probably benign
Transcript: ENSMUST00000021605
AA Change: N808K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000021605
Gene: ENSMUSG00000021188
AA Change: N808K

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
coiled coil region 54 130 N/A INTRINSIC
coiled coil region 167 194 N/A INTRINSIC
coiled coil region 218 702 N/A INTRINSIC
coiled coil region 754 990 N/A INTRINSIC
coiled coil region 1022 1051 N/A INTRINSIC
coiled coil region 1196 1261 N/A INTRINSIC
low complexity region 1310 1322 N/A INTRINSIC
coiled coil region 1336 1481 N/A INTRINSIC
coiled coil region 1547 1657 N/A INTRINSIC
coiled coil region 1681 1771 N/A INTRINSIC
low complexity region 1934 1945 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176728
SMART Domains Protein: ENSMUSP00000134992
Gene: ENSMUSG00000021188

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
Pfam:Orthopox_A5L 48 282 6.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177183
AA Change: N523K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134976
Gene: ENSMUSG00000021188
AA Change: N523K

DomainStartEndE-ValueType
coiled coil region 33 158 N/A INTRINSIC
coiled coil region 179 417 N/A INTRINSIC
coiled coil region 469 705 N/A INTRINSIC
coiled coil region 737 766 N/A INTRINSIC
coiled coil region 911 976 N/A INTRINSIC
low complexity region 1025 1037 N/A INTRINSIC
coiled coil region 1051 1196 N/A INTRINSIC
coiled coil region 1262 1372 N/A INTRINSIC
coiled coil region 1396 1486 N/A INTRINSIC
low complexity region 1649 1660 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177480
Predicted Effect probably benign
Transcript: ENSMUST00000177536
SMART Domains Protein: ENSMUSP00000135669
Gene: ENSMUSG00000021188

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
coiled coil region 53 129 N/A INTRINSIC
coiled coil region 166 193 N/A INTRINSIC
coiled coil region 217 517 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (99/100)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with small size, lung hypoplasia, omphalocele, and ventricular septal defects. [provided by MGI curators]
Allele List at MGI

All alleles(12) : Gene trapped(11) Chemically induced(1)

Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,545,219 (GRCm39) I78T probably benign Het
4921524J17Rik G A 8: 86,159,438 (GRCm39) probably benign Het
4932438H23Rik T C 16: 90,852,744 (GRCm39) T131A probably benign Het
Acbd6 G T 1: 155,463,213 (GRCm39) E138* probably null Het
Ago3 A G 4: 126,239,310 (GRCm39) V847A probably damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Als2cl C A 9: 110,727,174 (GRCm39) H913Q probably benign Het
Atf6 A C 1: 170,643,060 (GRCm39) S360R possibly damaging Het
Atm G C 9: 53,359,425 (GRCm39) N2789K possibly damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Bpifa6 A T 2: 153,831,249 (GRCm39) I272F possibly damaging Het
Cabin1 G T 10: 75,494,481 (GRCm39) P1633T probably damaging Het
Camsap2 A G 1: 136,209,131 (GRCm39) V119A probably damaging Het
Ccdc40 A G 11: 119,153,974 (GRCm39) E1082G probably benign Het
Cchcr1 C A 17: 35,839,248 (GRCm39) A479D probably damaging Het
Chpt1 C T 10: 88,312,230 (GRCm39) V349I probably benign Het
Cldn13 A T 5: 134,943,975 (GRCm39) I70K probably damaging Het
Col6a6 T A 9: 105,659,622 (GRCm39) D441V probably damaging Het
Cpne5 G T 17: 29,423,714 (GRCm39) T138K probably benign Het
Creb3l3 A T 10: 80,925,301 (GRCm39) probably null Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Cyp19a1 A G 9: 54,074,277 (GRCm39) Y426H possibly damaging Het
Cyth4 T C 15: 78,490,094 (GRCm39) F72S probably damaging Het
D430041D05Rik G T 2: 104,240,484 (GRCm39) Q9K unknown Het
Dnah1 T A 14: 30,983,547 (GRCm39) I4099F probably damaging Het
Dnah1 T A 14: 31,022,748 (GRCm39) I1130F possibly damaging Het
Dnah12 A G 14: 26,578,592 (GRCm39) K3117R probably benign Het
Dpf3 A T 12: 83,319,159 (GRCm39) S275R probably benign Het
Dst A G 1: 34,257,578 (GRCm39) N2450S probably benign Het
Dync1h1 C T 12: 110,632,109 (GRCm39) R4460W probably damaging Het
Ecm1 A C 3: 95,642,632 (GRCm39) C414G possibly damaging Het
Eef2 G A 10: 81,015,384 (GRCm39) D302N probably benign Het
Egf T C 3: 129,479,912 (GRCm39) D1038G possibly damaging Het
Epm2aip1 T C 9: 111,101,467 (GRCm39) S147P probably damaging Het
Esam C A 9: 37,448,863 (GRCm39) P324T possibly damaging Het
Fbxo36 A G 1: 84,874,301 (GRCm39) D99G probably damaging Het
Fhad1 G A 4: 141,691,937 (GRCm39) R400C probably benign Het
Fhip2a A G 19: 57,357,017 (GRCm39) Y36C probably damaging Het
Fndc3b T C 3: 27,515,893 (GRCm39) T638A probably benign Het
Gba2 T C 4: 43,568,967 (GRCm39) T563A probably benign Het
Gm8180 T A 14: 44,021,094 (GRCm39) N38I possibly damaging Het
Hs3st4 A G 7: 123,996,249 (GRCm39) E305G probably damaging Het
Ireb2 T A 9: 54,791,338 (GRCm39) F191I probably benign Het
Irx3 T G 8: 92,526,625 (GRCm39) T360P probably benign Het
Itpr1 T A 6: 108,380,357 (GRCm39) I1375N probably benign Het
Klrh1 A T 6: 129,752,345 (GRCm39) F57I probably benign Het
Lama4 A T 10: 38,963,369 (GRCm39) I1314F possibly damaging Het
Lamb2 C A 9: 108,363,347 (GRCm39) A842D probably benign Het
Ldlrap1 A G 4: 134,486,307 (GRCm39) Y51H possibly damaging Het
Leo1 A G 9: 75,355,623 (GRCm39) D321G probably damaging Het
Lrrc14b A G 13: 74,511,226 (GRCm39) S285P probably damaging Het
Macf1 A G 4: 123,326,860 (GRCm39) V4881A probably benign Het
Mfsd2b A T 12: 4,916,481 (GRCm39) F333I probably damaging Het
Micall1 T C 15: 79,006,760 (GRCm39) S196P unknown Het
Mrps21 T C 3: 95,770,110 (GRCm39) N73S probably benign Het
Msantd5f5 G A 4: 73,542,736 (GRCm39) G79S probably damaging Het
Msln C T 17: 25,969,708 (GRCm39) V341M possibly damaging Het
Mybpc3 A T 2: 90,962,001 (GRCm39) M840L probably damaging Het
Myo7a A C 7: 97,714,000 (GRCm39) F1613V probably damaging Het
Naprt C T 15: 75,763,607 (GRCm39) probably null Het
Nbr1 T C 11: 101,462,765 (GRCm39) V572A probably damaging Het
Nfkbie A T 17: 45,870,233 (GRCm39) T193S probably damaging Het
Nlrp14 T G 7: 106,789,251 (GRCm39) N672K probably benign Het
Or11l3 A T 11: 58,516,260 (GRCm39) I204N probably damaging Het
Or4b1d A G 2: 89,968,668 (GRCm39) Y272H probably damaging Het
Or52ab2 A G 7: 102,969,656 (GRCm39) T13A Het
Or5b101 T C 19: 13,005,439 (GRCm39) T85A probably benign Het
Or6k14 A T 1: 173,927,299 (GRCm39) I92F probably damaging Het
Or8b49 A T 9: 38,506,200 (GRCm39) I228L probably benign Het
Oscar T C 7: 3,614,149 (GRCm39) T197A possibly damaging Het
P3h3 C A 6: 124,827,594 (GRCm39) A481S possibly damaging Het
Pcdh8 T C 14: 80,008,691 (GRCm39) probably null Het
Pcsk9 A T 4: 106,316,094 (GRCm39) H116Q probably benign Het
Ptcd1 A G 5: 145,091,540 (GRCm39) F520L possibly damaging Het
Rapgef2 T C 3: 78,976,580 (GRCm39) T1261A probably benign Het
Ribc2 T A 15: 85,019,446 (GRCm39) M76K probably benign Het
Sin3b A G 8: 73,479,853 (GRCm39) E853G probably damaging Het
Slit2 A G 5: 48,414,180 (GRCm39) D940G probably damaging Het
Smarcb1 T A 10: 75,733,373 (GRCm39) N342Y probably damaging Het
Smurf2 A T 11: 106,726,921 (GRCm39) I469N probably damaging Het
Spata31h1 T C 10: 82,119,421 (GRCm39) I4530V probably benign Het
Spta1 T C 1: 174,074,065 (GRCm39) Y2335H probably damaging Het
Suz12 C T 11: 79,915,801 (GRCm39) R425C probably benign Het
Synpo G A 18: 60,762,895 (GRCm39) A4V probably benign Het
Tet1 A C 10: 62,649,129 (GRCm39) S157A possibly damaging Het
Themis A G 10: 28,637,415 (GRCm39) E173G possibly damaging Het
Timmdc1 A T 16: 38,325,780 (GRCm39) L197* probably null Het
Tmem63c T C 12: 87,115,932 (GRCm39) F191S possibly damaging Het
Tnn G A 1: 159,937,917 (GRCm39) T1200I probably benign Het
Traf6 A G 2: 101,527,537 (GRCm39) H429R probably benign Het
Trem3 T C 17: 48,556,873 (GRCm39) S115P probably benign Het
Trub2 A T 2: 29,673,385 (GRCm39) V106E probably damaging Het
Ugcg A G 4: 59,217,156 (GRCm39) I227V probably benign Het
Vat1l G A 8: 114,963,539 (GRCm39) probably null Het
Vmn1r184 T C 7: 25,966,824 (GRCm39) M190T possibly damaging Het
Vmn2r3 T C 3: 64,182,953 (GRCm39) T249A probably benign Het
Zfp729b A C 13: 67,742,002 (GRCm39) S88A probably benign Het
Zfp995 T C 17: 22,099,181 (GRCm39) Y351C probably damaging Het
Other mutations in Trip11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Trip11 APN 12 101,852,406 (GRCm39) missense probably benign 0.37
IGL00484:Trip11 APN 12 101,851,570 (GRCm39) nonsense probably null
IGL00972:Trip11 APN 12 101,860,596 (GRCm39) missense probably null 1.00
IGL01476:Trip11 APN 12 101,865,170 (GRCm39) missense probably damaging 0.96
IGL01591:Trip11 APN 12 101,849,604 (GRCm39) missense probably damaging 0.98
IGL01667:Trip11 APN 12 101,845,121 (GRCm39) missense probably damaging 1.00
IGL01764:Trip11 APN 12 101,850,890 (GRCm39) missense probably damaging 1.00
IGL01789:Trip11 APN 12 101,838,090 (GRCm39) missense probably benign 0.05
IGL01814:Trip11 APN 12 101,850,747 (GRCm39) missense probably damaging 0.98
IGL01898:Trip11 APN 12 101,851,935 (GRCm39) missense probably benign
IGL01924:Trip11 APN 12 101,853,143 (GRCm39) missense possibly damaging 0.93
IGL02020:Trip11 APN 12 101,850,572 (GRCm39) missense probably damaging 1.00
IGL02475:Trip11 APN 12 101,861,942 (GRCm39) missense probably benign 0.01
IGL02544:Trip11 APN 12 101,859,780 (GRCm39) missense probably damaging 1.00
IGL02678:Trip11 APN 12 101,849,649 (GRCm39) missense probably damaging 0.96
IGL02714:Trip11 APN 12 101,850,260 (GRCm39) missense probably damaging 1.00
IGL02718:Trip11 APN 12 101,852,284 (GRCm39) missense probably benign 0.24
IGL02904:Trip11 APN 12 101,853,097 (GRCm39) missense probably damaging 1.00
IGL03012:Trip11 APN 12 101,850,195 (GRCm39) missense probably damaging 1.00
IGL03191:Trip11 APN 12 101,865,184 (GRCm39) missense probably damaging 1.00
IGL03327:Trip11 APN 12 101,849,677 (GRCm39) missense possibly damaging 0.87
IGL03337:Trip11 APN 12 101,851,278 (GRCm39) missense probably damaging 1.00
NA:Trip11 UTSW 12 101,860,580 (GRCm39) splice site probably null
R0027:Trip11 UTSW 12 101,851,428 (GRCm39) missense probably benign 0.00
R0028:Trip11 UTSW 12 101,851,016 (GRCm39) missense probably damaging 1.00
R0238:Trip11 UTSW 12 101,850,987 (GRCm39) missense probably damaging 1.00
R0238:Trip11 UTSW 12 101,850,987 (GRCm39) missense probably damaging 1.00
R0239:Trip11 UTSW 12 101,850,987 (GRCm39) missense probably damaging 1.00
R0239:Trip11 UTSW 12 101,850,987 (GRCm39) missense probably damaging 1.00
R0505:Trip11 UTSW 12 101,851,931 (GRCm39) missense probably damaging 0.98
R0556:Trip11 UTSW 12 101,850,777 (GRCm39) nonsense probably null
R0573:Trip11 UTSW 12 101,853,119 (GRCm39) missense probably benign 0.02
R0626:Trip11 UTSW 12 101,852,235 (GRCm39) missense possibly damaging 0.54
R1519:Trip11 UTSW 12 101,852,419 (GRCm39) missense probably benign 0.04
R1530:Trip11 UTSW 12 101,879,026 (GRCm39) missense unknown
R1647:Trip11 UTSW 12 101,850,651 (GRCm39) nonsense probably null
R1648:Trip11 UTSW 12 101,850,651 (GRCm39) nonsense probably null
R1856:Trip11 UTSW 12 101,849,592 (GRCm39) nonsense probably null
R2013:Trip11 UTSW 12 101,803,981 (GRCm39) missense probably damaging 1.00
R2017:Trip11 UTSW 12 101,851,619 (GRCm39) missense probably benign 0.00
R2206:Trip11 UTSW 12 101,839,701 (GRCm39) missense probably benign 0.25
R2207:Trip11 UTSW 12 101,839,701 (GRCm39) missense probably benign 0.25
R2304:Trip11 UTSW 12 101,865,236 (GRCm39) missense possibly damaging 0.58
R2328:Trip11 UTSW 12 101,845,086 (GRCm39) makesense probably null
R2513:Trip11 UTSW 12 101,803,986 (GRCm39) missense possibly damaging 0.94
R3499:Trip11 UTSW 12 101,859,953 (GRCm39) missense possibly damaging 0.87
R4105:Trip11 UTSW 12 101,860,581 (GRCm39) nonsense probably null
R4124:Trip11 UTSW 12 101,861,957 (GRCm39) nonsense probably null
R4126:Trip11 UTSW 12 101,861,957 (GRCm39) nonsense probably null
R4128:Trip11 UTSW 12 101,861,957 (GRCm39) nonsense probably null
R4175:Trip11 UTSW 12 101,861,957 (GRCm39) nonsense probably null
R4176:Trip11 UTSW 12 101,861,957 (GRCm39) nonsense probably null
R4181:Trip11 UTSW 12 101,860,027 (GRCm39) missense probably damaging 1.00
R4296:Trip11 UTSW 12 101,852,127 (GRCm39) nonsense probably null
R4302:Trip11 UTSW 12 101,860,027 (GRCm39) missense probably damaging 1.00
R4306:Trip11 UTSW 12 101,853,198 (GRCm39) missense probably benign
R4342:Trip11 UTSW 12 101,850,575 (GRCm39) missense probably damaging 1.00
R4576:Trip11 UTSW 12 101,852,499 (GRCm39) nonsense probably null
R4586:Trip11 UTSW 12 101,849,600 (GRCm39) missense possibly damaging 0.55
R4634:Trip11 UTSW 12 101,803,875 (GRCm39) missense probably damaging 1.00
R4696:Trip11 UTSW 12 101,851,549 (GRCm39) missense possibly damaging 0.71
R4792:Trip11 UTSW 12 101,851,705 (GRCm39) missense probably benign 0.10
R4903:Trip11 UTSW 12 101,853,065 (GRCm39) critical splice donor site probably null
R5001:Trip11 UTSW 12 101,851,169 (GRCm39) nonsense probably null
R5017:Trip11 UTSW 12 101,812,879 (GRCm39) missense probably benign 0.00
R5227:Trip11 UTSW 12 101,851,179 (GRCm39) missense probably damaging 1.00
R5231:Trip11 UTSW 12 101,851,860 (GRCm39) missense probably damaging 0.96
R5539:Trip11 UTSW 12 101,851,386 (GRCm39) missense probably damaging 0.98
R5754:Trip11 UTSW 12 101,851,924 (GRCm39) nonsense probably null
R5755:Trip11 UTSW 12 101,851,924 (GRCm39) nonsense probably null
R5890:Trip11 UTSW 12 101,852,231 (GRCm39) missense probably damaging 0.99
R5910:Trip11 UTSW 12 101,849,738 (GRCm39) missense probably damaging 1.00
R6083:Trip11 UTSW 12 101,856,001 (GRCm39) missense probably benign 0.00
R6208:Trip11 UTSW 12 101,865,154 (GRCm39) missense probably damaging 1.00
R6216:Trip11 UTSW 12 101,856,859 (GRCm39) missense probably benign 0.31
R6315:Trip11 UTSW 12 101,851,837 (GRCm39) missense possibly damaging 0.84
R6413:Trip11 UTSW 12 101,851,790 (GRCm39) missense probably benign 0.12
R6590:Trip11 UTSW 12 101,851,710 (GRCm39) missense possibly damaging 0.92
R6690:Trip11 UTSW 12 101,851,710 (GRCm39) missense possibly damaging 0.92
R6914:Trip11 UTSW 12 101,812,879 (GRCm39) missense probably benign 0.00
R6938:Trip11 UTSW 12 101,803,886 (GRCm39) missense probably damaging 0.98
R7015:Trip11 UTSW 12 101,859,942 (GRCm39) missense probably damaging 1.00
R7023:Trip11 UTSW 12 101,852,126 (GRCm39) missense probably benign 0.13
R7133:Trip11 UTSW 12 101,850,329 (GRCm39) missense probably damaging 0.97
R7271:Trip11 UTSW 12 101,850,611 (GRCm39) missense probably damaging 1.00
R7424:Trip11 UTSW 12 101,851,457 (GRCm39) missense probably damaging 1.00
R7431:Trip11 UTSW 12 101,850,278 (GRCm39) missense possibly damaging 0.84
R7491:Trip11 UTSW 12 101,851,694 (GRCm39) missense probably damaging 1.00
R7752:Trip11 UTSW 12 101,853,233 (GRCm39) missense probably benign 0.01
R7763:Trip11 UTSW 12 101,811,114 (GRCm39) missense probably benign 0.03
R7779:Trip11 UTSW 12 101,849,796 (GRCm39) missense probably damaging 0.97
R7844:Trip11 UTSW 12 101,844,403 (GRCm39) missense probably damaging 1.00
R8055:Trip11 UTSW 12 101,803,924 (GRCm39) missense probably damaging 1.00
R8076:Trip11 UTSW 12 101,849,741 (GRCm39) missense probably damaging 1.00
R8288:Trip11 UTSW 12 101,860,643 (GRCm39) missense possibly damaging 0.73
R8294:Trip11 UTSW 12 101,811,160 (GRCm39) missense possibly damaging 0.93
R8318:Trip11 UTSW 12 101,879,063 (GRCm39) missense unknown
R8690:Trip11 UTSW 12 101,839,656 (GRCm39) missense possibly damaging 0.76
R8879:Trip11 UTSW 12 101,828,857 (GRCm39) missense probably benign 0.00
R8964:Trip11 UTSW 12 101,811,315 (GRCm39) critical splice donor site probably null
R9005:Trip11 UTSW 12 101,845,131 (GRCm39) missense probably benign 0.02
R9013:Trip11 UTSW 12 101,851,377 (GRCm39) missense probably damaging 0.99
R9020:Trip11 UTSW 12 101,850,770 (GRCm39) missense possibly damaging 0.91
R9041:Trip11 UTSW 12 101,845,127 (GRCm39) missense probably benign 0.06
R9234:Trip11 UTSW 12 101,811,990 (GRCm39) critical splice donor site probably null
R9447:Trip11 UTSW 12 101,850,148 (GRCm39) missense probably damaging 1.00
R9631:Trip11 UTSW 12 101,859,807 (GRCm39) missense probably benign
R9641:Trip11 UTSW 12 101,859,957 (GRCm39) nonsense probably null
R9691:Trip11 UTSW 12 101,850,123 (GRCm39) missense probably benign 0.00
R9751:Trip11 UTSW 12 101,850,765 (GRCm39) missense possibly damaging 0.54
X0020:Trip11 UTSW 12 101,852,172 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCAGCTCCTCTTGCAAGTGATTG -3'
(R):5'- CGGAAGTACGAGCAAACTGTC -3'

Sequencing Primer
(F):5'- GTTCTCTTCTTTCATGGATCCAAGAC -3'
(R):5'- GTACGAGCAAACTGTCCAGGAAC -3'
Posted On 2019-10-17