Incidental Mutation 'R7133:Trip11'
ID 552845
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 045218-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7133 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 101800304-101879463 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101850329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 1245 (Q1245L)
Ref Sequence ENSEMBL: ENSMUSP00000021605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021605] [ENSMUST00000177183] [ENSMUST00000177536]
AlphaFold E9Q512
Predicted Effect probably damaging
Transcript: ENSMUST00000021605
AA Change: Q1245L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021605
Gene: ENSMUSG00000021188
AA Change: Q1245L

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 possibly damaging
Transcript: ENSMUST00000177183
AA Change: Q960L

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134976
Gene: ENSMUSG00000021188
AA Change: Q960L

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
Meta Mutation Damage Score 0.0652 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (91/93)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 78,902,473 (GRCm39) K614N probably benign Het
2610008E11Rik T G 10: 78,902,474 (GRCm39) K614T probably benign Het
Ahsa1 T A 12: 87,317,116 (GRCm39) S120R probably benign Het
Anapc16 G A 10: 59,832,302 (GRCm39) T37I possibly damaging Het
Arid2 C A 15: 96,276,756 (GRCm39) P1606H probably damaging Het
Ash1l TATCTCCTTTTCCAAAAA TA 3: 88,890,764 (GRCm39) probably null Het
Asic1 T A 15: 99,569,968 (GRCm39) N96K probably damaging Het
Asph A T 4: 9,484,575 (GRCm39) D582E probably benign Het
Astn1 A G 1: 158,400,557 (GRCm39) D528G probably damaging Het
Atp9b A G 18: 80,952,871 (GRCm39) V164A Het
Cbx6 C T 15: 79,712,866 (GRCm39) G187D possibly damaging Het
Cct7 A G 6: 85,443,627 (GRCm39) T332A probably benign Het
Clca4a A T 3: 144,667,651 (GRCm39) L440* probably null Het
Crybg2 A T 4: 133,792,754 (GRCm39) I130F probably benign Het
Crybg3 T C 16: 59,357,167 (GRCm39) E798G probably damaging Het
Ctnnd2 A G 15: 30,480,995 (GRCm39) E81G possibly damaging Het
Cwc22 C T 2: 77,759,822 (GRCm39) R75H possibly damaging Het
Cym T G 3: 107,121,530 (GRCm39) D254A probably damaging Het
Dcaf11 T A 14: 55,806,383 (GRCm39) probably null Het
Dctn1 A T 6: 83,157,026 (GRCm39) probably null Het
Dennd5a C T 7: 109,495,449 (GRCm39) probably null Het
Dmpk T A 7: 18,821,232 (GRCm39) C217S probably damaging Het
Dnah1 C A 14: 31,008,033 (GRCm39) V2125L probably benign Het
Exoc4 G A 6: 33,415,408 (GRCm39) A427T probably benign Het
Farp2 G T 1: 93,548,956 (GRCm39) V1021F probably damaging Het
Flg2 T C 3: 93,127,069 (GRCm39) S1994P unknown Het
Fmnl1 T C 11: 103,072,610 (GRCm39) probably null Het
Frem2 T A 3: 53,479,760 (GRCm39) I1978F possibly damaging Het
Gan T A 8: 117,913,969 (GRCm39) C122* probably null Het
Gpr25 T A 1: 136,188,559 (GRCm39) Y18F probably damaging Het
Hoxa7 C T 6: 52,192,720 (GRCm39) E223K probably benign Het
Hypk A G 2: 121,283,961 (GRCm39) probably null Het
Ibsp A T 5: 104,450,172 (GRCm39) K27* probably null Het
Ighv6-5 T A 12: 114,380,395 (GRCm39) T41S probably benign Het
Ighv9-4 T C 12: 114,263,757 (GRCm39) M59V probably benign Het
Il17rb T C 14: 29,718,828 (GRCm39) D418G probably damaging Het
Ints5 T A 19: 8,872,923 (GRCm39) V294E probably damaging Het
Irx6 G A 8: 93,405,041 (GRCm39) C303Y probably damaging Het
Itih3 T A 14: 30,639,655 (GRCm39) I389F probably damaging Het
Lama1 C T 17: 68,089,141 (GRCm39) T1604I Het
Lama3 C A 18: 12,672,843 (GRCm39) Q873K probably benign Het
Lhx1 T G 11: 84,410,746 (GRCm39) S284R probably benign Het
Lrba T A 3: 86,302,238 (GRCm39) probably null Het
Lrg1 C T 17: 56,427,592 (GRCm39) G127R possibly damaging Het
Macir G A 1: 97,573,645 (GRCm39) P140L probably benign Het
Mapre1 T A 2: 153,606,883 (GRCm39) L205H probably benign Het
Meltf A G 16: 31,711,617 (GRCm39) N581S probably damaging Het
Mgat5 A C 1: 127,292,926 (GRCm39) M149L probably benign Het
Myh1 A G 11: 67,093,412 (GRCm39) T168A probably benign Het
Naalad2 C T 9: 18,238,673 (GRCm39) V681I probably benign Het
Or51e2 A G 7: 102,391,524 (GRCm39) S229P probably damaging Het
Or52r1c T A 7: 102,735,205 (GRCm39) L155Q probably damaging Het
Pcnx2 T C 8: 126,528,243 (GRCm39) T1326A probably benign Het
Peg3 A T 7: 6,711,944 (GRCm39) C1093S probably damaging Het
Pidd1 T C 7: 141,019,813 (GRCm39) S650G probably benign Het
Pik3c2b T C 1: 133,017,972 (GRCm39) S945P possibly damaging Het
Plec T C 15: 76,060,227 (GRCm39) T3237A possibly damaging Het
Prpf3 A T 3: 95,741,052 (GRCm39) probably null Het
Prpf4b C A 13: 35,085,477 (GRCm39) H974Q probably benign Het
Ptpn3 T C 4: 57,225,863 (GRCm39) T451A probably benign Het
Ptprs A G 17: 56,724,429 (GRCm39) Y1577H probably damaging Het
Rgr C T 14: 36,770,882 (GRCm39) M1I probably null Het
Rxrg A T 1: 167,458,678 (GRCm39) N257I probably benign Het
Sbno2 T C 10: 79,922,146 (GRCm39) D9G probably damaging Het
Scd1 T C 19: 44,395,034 (GRCm39) K64E probably damaging Het
Serpinb1a T A 13: 33,034,308 (GRCm39) I28F possibly damaging Het
Sfmbt2 A T 2: 10,406,818 (GRCm39) E39V probably damaging Het
Slc29a1 A G 17: 45,900,897 (GRCm39) M89T possibly damaging Het
Slco4a1 T A 2: 180,113,856 (GRCm39) V431E possibly damaging Het
Smg1 C T 7: 117,752,131 (GRCm39) C2698Y unknown Het
Sptlc2 C T 12: 87,397,151 (GRCm39) D212N probably benign Het
St6galnac1 T C 11: 116,657,899 (GRCm39) T334A possibly damaging Het
Stim2 A T 5: 54,156,263 (GRCm39) D13V possibly damaging Het
Syne1 A G 10: 5,181,592 (GRCm39) W4248R probably damaging Het
Tanc1 T C 2: 59,627,953 (GRCm39) Y584H probably benign Het
Thoc6 C A 17: 23,892,634 (GRCm39) probably null Het
Trim30a T A 7: 104,078,533 (GRCm39) N181I possibly damaging Het
Tshz3 A G 7: 36,469,994 (GRCm39) D661G probably benign Het
Ttll8 C A 15: 88,799,630 (GRCm39) V604L probably damaging Het
Ubtfl1 A G 9: 18,320,931 (GRCm39) D153G probably damaging Het
Ufsp2 C A 8: 46,436,661 (GRCm39) N137K probably benign Het
Ugt2a3 A G 5: 87,473,393 (GRCm39) I508T possibly damaging Het
Uso1 G A 5: 92,306,324 (GRCm39) E94K probably benign Het
Usp54 A G 14: 20,611,310 (GRCm39) S1169P probably benign Het
Vmn1r235 C T 17: 21,482,292 (GRCm39) P206S probably benign Het
Vmn1r69 T C 7: 10,314,995 (GRCm39) probably benign Het
Zfp263 T A 16: 3,567,255 (GRCm39) C523* probably null Het
Zfp799 G T 17: 33,039,210 (GRCm39) T352K probably benign Het
Zfr T A 15: 12,180,724 (GRCm39) V951E probably damaging Het
Zfyve26 T C 12: 79,330,926 (GRCm39) D431G probably benign Het
Zswim9 C A 7: 12,993,664 (GRCm39) A831S 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
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
R7472:Trip11 UTSW 12 101,851,639 (GRCm39) missense probably benign 0.00
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'- GTTTTCCTAAAAGAAGGTCCTTGG -3'
(R):5'- ACTGAGTCAGAAGTGCCAGAC -3'

Sequencing Primer
(F):5'- GGTATTACAAAGCTGCCCTATGC -3'
(R):5'- AGACCCTGCTGACAGTCTTG -3'
Posted On 2019-05-15