Incidental Mutation 'R4792:Trip11'
ID 368704
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 042419-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4792 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 101800304-101879463 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101851705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 786 (H786Q)
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: H786Q

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021605
Gene: ENSMUSG00000021188
AA Change: H786Q

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: H501Q

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000134976
Gene: ENSMUSG00000021188
AA Change: H501Q

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 0.0678 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 97% (89/92)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik A G 16: 88,504,651 (GRCm39) S49P possibly damaging Het
Abcb1a T C 5: 8,796,657 (GRCm39) probably null Het
Adgb G A 10: 10,274,647 (GRCm39) T770I probably damaging Het
Adgre4 A T 17: 56,098,491 (GRCm39) T134S probably benign Het
Aldh1a1 A G 19: 20,597,349 (GRCm39) N110S probably damaging Het
Alox5 C A 6: 116,437,964 (GRCm39) V8L possibly damaging Het
Ambra1 A G 2: 91,603,191 (GRCm39) T392A possibly damaging Het
Apob A G 12: 8,058,051 (GRCm39) I2145V probably benign Het
Arhgap39 A G 15: 76,625,717 (GRCm39) Y196H possibly damaging Het
Armh2 A G 13: 24,930,490 (GRCm39) probably benign Het
Carmil1 A G 13: 24,251,173 (GRCm39) L439S probably damaging Het
Carmil1 A T 13: 24,325,659 (GRCm39) S224T possibly damaging Het
Cfh G A 1: 140,028,561 (GRCm39) Q706* probably null Het
Chd2 A C 7: 73,118,325 (GRCm39) S1098A probably benign Het
Chrna5 A T 9: 54,911,985 (GRCm39) I158F probably damaging Het
Cilk1 A G 9: 78,060,975 (GRCm39) D207G probably damaging Het
Col6a5 T C 9: 105,807,983 (GRCm39) T1022A unknown Het
Cul7 T A 17: 46,967,976 (GRCm39) Y423* probably null Het
Cyp2e1 T C 7: 140,353,588 (GRCm39) Y342H probably benign Het
D630045J12Rik T C 6: 38,125,275 (GRCm39) K1580E probably damaging Het
Dnah6 A G 6: 73,066,651 (GRCm39) M2573T probably damaging Het
Dnai4 T C 4: 102,929,881 (GRCm39) K370R possibly damaging Het
Edem1 T A 6: 108,805,707 (GRCm39) probably benign Het
Erp29 C T 5: 121,585,237 (GRCm39) E86K probably benign Het
Esrp2 C A 8: 106,859,141 (GRCm39) R535L probably damaging Het
Gabrb2 C T 11: 42,420,330 (GRCm39) probably benign Het
Gpat3 C T 5: 101,005,039 (GRCm39) P58L probably benign Het
Herc1 T A 9: 66,403,266 (GRCm39) V4395E possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmgb2 G A 8: 57,966,344 (GRCm39) C106Y probably damaging Het
Hoxa10 T C 6: 52,209,481 (GRCm39) probably benign Het
Hsd3b1 T A 3: 98,760,226 (GRCm39) Y255F probably benign Het
Ighd T C 12: 113,379,819 (GRCm39) K42E probably benign Het
Ighv1-26 T C 12: 114,752,191 (GRCm39) Y51C possibly damaging Het
Ighv5-2 C T 12: 113,542,419 (GRCm39) E19K possibly damaging Het
Ipo11 T C 13: 106,970,668 (GRCm39) probably benign Het
Itk C T 11: 46,235,658 (GRCm39) probably benign Het
Kat6a T A 8: 23,430,592 (GRCm39) H1982Q unknown Het
Kdm4d C T 9: 14,374,686 (GRCm39) V391I probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lgr6 T A 1: 134,949,544 (GRCm39) S229C probably benign Het
Lhx9 T A 1: 138,766,089 (GRCm39) Y233F possibly damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Mapk4 T C 18: 74,070,321 (GRCm39) T191A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naglu C T 11: 100,961,932 (GRCm39) T135M probably damaging Het
Nomo1 T A 7: 45,693,643 (GRCm39) probably null Het
Nop56 T A 2: 130,119,784 (GRCm39) V75E possibly damaging Het
Nr1i3 G A 1: 171,046,164 (GRCm39) C283Y probably damaging Het
Or4x6 T A 2: 89,949,174 (GRCm39) Y256F possibly damaging Het
Or51d1 G A 7: 102,347,933 (GRCm39) G163R probably damaging Het
Or6c38 T G 10: 128,929,489 (GRCm39) Y118S probably damaging Het
Pcdhga2 A G 18: 37,802,452 (GRCm39) S99G probably benign Het
Pcnx1 T A 12: 81,965,925 (GRCm39) D697E probably damaging Het
Plxnb1 G A 9: 108,939,716 (GRCm39) D1462N probably damaging Het
Pnn G T 12: 59,118,991 (GRCm39) V525F possibly damaging Het
Prrc2a A T 17: 35,375,463 (GRCm39) D1062E probably damaging Het
Prss35 T A 9: 86,637,722 (GRCm39) V164E probably damaging Het
Psapl1 T C 5: 36,362,547 (GRCm39) S380P probably benign Het
Rnf222 A T 11: 68,783,845 (GRCm39) E137D probably damaging Het
Rsph10b A G 5: 143,874,135 (GRCm39) T79A probably damaging Het
Sbf2 T C 7: 109,950,817 (GRCm39) Q1164R probably damaging Het
Scn7a T C 2: 66,556,592 (GRCm39) D331G probably damaging Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Sspo G A 6: 48,438,519 (GRCm39) S1529N probably benign Het
St8sia3 T A 18: 64,398,634 (GRCm39) V31E probably benign Het
Sult1b1 A T 5: 87,662,906 (GRCm39) W265R probably damaging Het
Supt5 G T 7: 28,015,754 (GRCm39) Q863K probably benign Het
Tbc1d31 A G 15: 57,804,124 (GRCm39) R380G probably benign Het
Tdpoz1 T A 3: 93,577,845 (GRCm39) D313V possibly damaging Het
Tmem260 CAGGGACCGGCATAG CAG 14: 48,749,451 (GRCm39) probably benign Het
Tpx2 A T 2: 152,727,016 (GRCm39) T428S probably damaging Het
Trpc6 A T 9: 8,626,615 (GRCm39) M322L probably benign Het
Try10 T C 6: 41,332,386 (GRCm39) V14A probably benign Het
Unc13d A T 11: 115,961,108 (GRCm39) F416L probably damaging Het
Vmn2r75 A T 7: 85,812,378 (GRCm39) M547K possibly damaging Het
Zbp1 A G 2: 173,051,006 (GRCm39) F288S probably damaging Het
Zc3h11a T A 1: 133,568,436 (GRCm39) Q71L probably damaging Het
Zfp40 G A 17: 23,396,008 (GRCm39) T193I possibly damaging Het
Zfp607a T C 7: 27,578,078 (GRCm39) Y383H probably benign Het
Zfp622 T A 15: 25,987,128 (GRCm39) Y82* probably null Het
Zfp964 T C 8: 70,116,665 (GRCm39) F422L probably benign 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
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
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'- TTCATGGATCCAAGACTTCTATCC -3'
(R):5'- CTGTGTCGAGCTGAAAAGCG -3'

Sequencing Primer
(F):5'- ATGGATCCAAGACTTCTATCCTTTTC -3'
(R):5'- CGAGCTGAAAAGCGGGTGTTG -3'
Posted On 2016-02-04