Incidental Mutation 'R9013:Trip11'
ID 685785
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 068843-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9013 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 101800304-101879463 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101851377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 896 (S896P)
Ref Sequence ENSEMBL: ENSMUSP00000021605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021605] [ENSMUST00000176728] [ENSMUST00000177183] [ENSMUST00000177536]
AlphaFold E9Q512
Predicted Effect probably damaging
Transcript: ENSMUST00000021605
AA Change: S896P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021605
Gene: ENSMUSG00000021188
AA Change: S896P

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 damaging
Transcript: ENSMUST00000177183
AA Change: S611P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134976
Gene: ENSMUSG00000021188
AA Change: S611P

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 0.0743 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik G T 14: 70,394,176 (GRCm39) L200I probably damaging Het
Afap1 G A 5: 36,133,932 (GRCm39) D456N possibly damaging Het
Afm A T 5: 90,671,594 (GRCm39) D92V probably damaging Het
Ahi1 T C 10: 20,883,658 (GRCm39) I841T probably benign Het
Asb1 T C 1: 91,480,163 (GRCm39) probably null Het
Astn1 A T 1: 158,348,070 (GRCm39) I507F probably damaging Het
Astn2 A G 4: 65,910,584 (GRCm39) M468T probably benign Het
C030006K11Rik T C 15: 76,608,004 (GRCm39) S5G probably benign Het
C9 A T 15: 6,516,193 (GRCm39) D332V probably damaging Het
Cacna1c A T 6: 118,719,266 (GRCm39) S423T probably damaging Het
Cbx8 T C 11: 118,929,649 (GRCm39) I315V possibly damaging Het
Ccdc50 T A 16: 27,228,106 (GRCm39) I91N probably damaging Het
Col4a1 T A 8: 11,272,270 (GRCm39) I707L probably benign Het
Cyc1 T C 15: 76,229,019 (GRCm39) V154A possibly damaging Het
Cyp4f40 A T 17: 32,890,173 (GRCm39) H281L probably benign Het
D130052B06Rik T G 11: 33,573,491 (GRCm39) C74W unknown Het
Dap G A 15: 31,273,344 (GRCm39) G66D probably damaging Het
Dclk3 A T 9: 111,297,566 (GRCm39) H370L probably benign Het
Dgka C A 10: 128,566,071 (GRCm39) E360* probably null Het
Dst A G 1: 34,217,165 (GRCm39) I1202V possibly damaging Het
Fzd10 C G 5: 128,679,369 (GRCm39) P363R probably damaging Het
Gpx2 A G 12: 76,842,118 (GRCm39) L11P probably damaging Het
Greb1 A G 12: 16,789,970 (GRCm39) L26S probably damaging Het
Gtpbp2 A G 17: 46,475,740 (GRCm39) K163R probably benign Het
Hsd3b1 A T 3: 98,759,977 (GRCm39) L338Q probably damaging Het
Il15ra A G 2: 11,732,576 (GRCm39) S67G probably benign Het
Kcnc2 C T 10: 112,107,723 (GRCm39) A38V probably damaging Het
Kif19b A T 5: 140,449,368 (GRCm39) Y180F probably damaging Het
Klk1b16 A G 7: 43,790,332 (GRCm39) D169G probably benign Het
Kmt2a T C 9: 44,761,208 (GRCm39) K214E probably damaging Het
Lcor T A 19: 41,573,189 (GRCm39) V648D probably damaging Het
Lrriq1 C T 10: 103,050,931 (GRCm39) G607D probably damaging Het
Lysmd3 T A 13: 81,817,580 (GRCm39) S186T probably damaging Het
Meis1 G T 11: 18,966,354 (GRCm39) D6E probably benign Het
Mfsd4b2 T G 10: 39,798,062 (GRCm39) T98P probably benign Het
Muc16 T A 9: 18,424,069 (GRCm39) E8193V possibly damaging Het
Nr1i3 A G 1: 171,042,026 (GRCm39) T37A probably damaging Het
Nr5a2 A T 1: 136,872,745 (GRCm39) D112E probably damaging Het
Oas1c A G 5: 120,943,497 (GRCm39) I214T probably damaging Het
Omp A G 7: 97,794,552 (GRCm39) M25T probably benign Het
Or12d17 G A 17: 37,777,441 (GRCm39) V115M probably benign Het
Or12j4 A T 7: 140,046,179 (GRCm39) R22W probably benign Het
Or13c9 C A 4: 52,935,900 (GRCm39) A128S probably benign Het
Or5p58 A G 7: 107,694,471 (GRCm39) I102T probably benign Het
Or6c210 T C 10: 129,495,702 (GRCm39) F9S probably damaging Het
Or7g12 A T 9: 18,899,874 (GRCm39) I197F possibly damaging Het
Paf1 A G 7: 28,098,133 (GRCm39) E381G unknown Het
Pcdhga8 A G 18: 37,858,997 (GRCm39) T18A probably benign Het
Pclo T C 5: 14,727,627 (GRCm39) S2162P unknown Het
Psg25 T C 7: 18,258,690 (GRCm39) I329V probably benign Het
Ptov1 A G 7: 44,514,985 (GRCm39) S209P possibly damaging Het
Ralgapb A G 2: 158,279,060 (GRCm39) K397E probably damaging Het
Ryr2 T A 13: 11,618,618 (GRCm39) T3866S probably damaging Het
Sdccag8 G A 1: 176,652,371 (GRCm39) V41I probably benign Het
Sdf2l1 T A 16: 16,948,630 (GRCm39) D136V possibly damaging Het
Slc26a7 A T 4: 14,506,514 (GRCm39) S612T probably damaging Het
Snf8 T C 11: 95,930,126 (GRCm39) F43L probably benign Het
Snta1 A T 2: 154,245,809 (GRCm39) M104K probably damaging Het
Sox2 T A 3: 34,704,746 (GRCm39) M61K probably damaging Het
Spata31e3 T C 13: 50,401,588 (GRCm39) H246R possibly damaging Het
Spats2 T A 15: 99,097,128 (GRCm39) D293E probably damaging Het
Spta1 A G 1: 174,050,174 (GRCm39) D1738G probably damaging Het
Sqstm1 A T 11: 50,098,684 (GRCm39) Y89N probably damaging Het
Stat4 T A 1: 52,050,957 (GRCm39) N5K probably benign Het
Syne4 A G 7: 30,017,418 (GRCm39) H294R probably damaging Het
Tbc1d7 A C 13: 43,322,310 (GRCm39) F45V probably damaging Het
Tekt3 T A 11: 62,974,684 (GRCm39) N334K probably damaging Het
Tgfbr3l A G 8: 4,300,620 (GRCm39) H266R possibly damaging Het
Trav7-6 A G 14: 53,954,604 (GRCm39) K65E probably benign Het
Tubb6 T C 18: 67,526,046 (GRCm39) V66A possibly damaging Het
Tyk2 A G 9: 21,016,403 (GRCm39) L1189P probably damaging Het
Usp34 T G 11: 23,320,302 (GRCm39) V911G Het
Wdr53 C T 16: 32,075,413 (GRCm39) A206V probably damaging Het
Xrn1 A G 9: 95,920,981 (GRCm39) E1364G probably benign Het
Ywhag T C 5: 135,940,217 (GRCm39) M126V probably damaging Het
Zfp383 C T 7: 29,614,717 (GRCm39) P324L 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
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
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'- CATGCAACTGGGCTTTTATTTG -3'
(R):5'- TGAGACTTTAAGGCAGACCATAG -3'

Sequencing Primer
(F):5'- TCTAAAAAGAGTCGTGTGTGTGAG -3'
(R):5'- CTTTAAGGCAGACCATAGAAGAAAAG -3'
Posted On 2021-10-11