Incidental Mutation 'R1179:Trrap'
ID 100220
Institutional Source Beutler Lab
Gene Symbol Trrap
Ensembl Gene ENSMUSG00000045482
Gene Name transformation/transcription domain-associated protein
Synonyms transactivation/transformation-domain associated protein
MMRRC Submission 039251-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1179 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 144704547-144796588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 144714749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 107 (R107H)
Ref Sequence ENSEMBL: ENSMUSP00000148419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038980] [ENSMUST00000094120] [ENSMUST00000100467] [ENSMUST00000128550] [ENSMUST00000213013]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000038980
AA Change: R107H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042544
Gene: ENSMUSG00000045482
AA Change: R107H

DomainStartEndE-ValueType
low complexity region 482 527 N/A INTRINSIC
low complexity region 529 540 N/A INTRINSIC
Blast:PI3Kc 765 864 1e-13 BLAST
SCOP:d1gw5a_ 1184 1664 2e-6 SMART
low complexity region 1832 1843 N/A INTRINSIC
low complexity region 1866 1881 N/A INTRINSIC
low complexity region 2289 2303 N/A INTRINSIC
Pfam:FAT 2830 3174 4.7e-69 PFAM
low complexity region 3363 3376 N/A INTRINSIC
low complexity region 3407 3418 N/A INTRINSIC
PI3Kc 3509 3798 5.11e-8 SMART
FATC 3797 3829 1.89e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000094120
AA Change: R107H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091668
Gene: ENSMUSG00000045482
AA Change: R107H

DomainStartEndE-ValueType
low complexity region 482 527 N/A INTRINSIC
low complexity region 529 540 N/A INTRINSIC
Blast:PI3Kc 765 864 1e-13 BLAST
SCOP:d1gw5a_ 1184 1682 2e-6 SMART
low complexity region 1850 1861 N/A INTRINSIC
low complexity region 1884 1899 N/A INTRINSIC
low complexity region 2307 2321 N/A INTRINSIC
Pfam:FAT 2848 3203 1.1e-68 PFAM
low complexity region 3392 3405 N/A INTRINSIC
low complexity region 3436 3447 N/A INTRINSIC
PI3Kc 3538 3827 5.11e-8 SMART
FATC 3826 3858 1.89e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000100467
AA Change: R107H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098035
Gene: ENSMUSG00000045482
AA Change: R107H

DomainStartEndE-ValueType
low complexity region 482 527 N/A INTRINSIC
low complexity region 529 540 N/A INTRINSIC
Blast:PI3Kc 765 864 1e-13 BLAST
SCOP:d1gw5a_ 1184 1664 2e-6 SMART
low complexity region 1832 1843 N/A INTRINSIC
low complexity region 1866 1881 N/A INTRINSIC
low complexity region 2289 2303 N/A INTRINSIC
Pfam:FAT 2830 3174 4.7e-69 PFAM
low complexity region 3381 3394 N/A INTRINSIC
low complexity region 3425 3436 N/A INTRINSIC
PI3Kc 3527 3816 5.11e-8 SMART
FATC 3815 3847 1.89e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158060
Predicted Effect possibly damaging
Transcript: ENSMUST00000213013
AA Change: R107H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.5%
  • 10x: 93.7%
  • 20x: 84.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous embryos die prior to E3.5 and exhibit embryonic and extraembryonic tissue disorganization. Mitotic abnormalities were also noted in homozygous cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T A 11: 7,117,054 (GRCm39) probably null Het
Aknad1 T C 3: 108,659,783 (GRCm39) S266P possibly damaging Het
Gaa A T 11: 119,171,954 (GRCm39) R686W probably damaging Het
Gls2 A T 10: 128,035,103 (GRCm39) T79S probably damaging Het
Golga2 G T 2: 32,193,707 (GRCm39) R511L possibly damaging Het
Hrnr T C 3: 93,239,850 (GRCm39) S3363P unknown Het
Ift81 T C 5: 122,740,773 (GRCm39) K187R probably benign Het
Kcnj1 T A 9: 32,308,062 (GRCm39) I162N probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Mc5r C G 18: 68,471,741 (GRCm39) probably null Het
Naga T A 15: 82,214,357 (GRCm39) N385Y probably benign Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nrip3 A G 7: 109,362,762 (GRCm39) V163A probably damaging Het
Or6c202 A C 10: 128,995,927 (GRCm39) S309A probably benign Het
Or8g55 T C 9: 39,785,371 (GRCm39) S267P possibly damaging Het
Pacsin3 A G 2: 91,094,205 (GRCm39) E378G probably damaging Het
Pnisr A G 4: 21,865,937 (GRCm39) T309A possibly damaging Het
Rad54l A T 4: 115,968,517 (GRCm39) L93Q probably benign Het
Ralgps2 G T 1: 156,729,369 (GRCm39) P50Q probably damaging Het
Stab2 A G 10: 86,786,165 (GRCm39) V594A probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tmem17 A T 11: 22,468,454 (GRCm39) N131I probably damaging Het
Vmp1 T C 11: 86,498,055 (GRCm39) T287A probably damaging Het
Zfp423 T A 8: 88,414,700 (GRCm39) H1185L probably damaging Het
Zfp773 AGCTGCTGCTGCTGCTGCTGCTGCTGC AGCTGCTGCTGCTGCTGCTGCTGC 7: 7,136,092 (GRCm39) probably benign Het
Other mutations in Trrap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Trrap APN 5 144,716,784 (GRCm39) splice site probably benign
IGL00470:Trrap APN 5 144,754,848 (GRCm39) missense probably damaging 1.00
IGL00490:Trrap APN 5 144,762,035 (GRCm39) missense probably benign 0.40
IGL01072:Trrap APN 5 144,721,065 (GRCm39) splice site probably benign
IGL01087:Trrap APN 5 144,783,349 (GRCm39) missense probably damaging 0.99
IGL01300:Trrap APN 5 144,741,628 (GRCm39) missense probably damaging 1.00
IGL01350:Trrap APN 5 144,767,779 (GRCm39) missense possibly damaging 0.92
IGL01410:Trrap APN 5 144,767,831 (GRCm39) missense probably benign 0.00
IGL01571:Trrap APN 5 144,770,097 (GRCm39) splice site probably benign
IGL01748:Trrap APN 5 144,770,150 (GRCm39) missense probably damaging 1.00
IGL01839:Trrap APN 5 144,758,685 (GRCm39) missense probably damaging 1.00
IGL01976:Trrap APN 5 144,793,799 (GRCm39) missense probably benign 0.00
IGL02075:Trrap APN 5 144,765,304 (GRCm39) missense probably benign 0.00
IGL02127:Trrap APN 5 144,753,243 (GRCm39) missense probably benign 0.22
IGL02131:Trrap APN 5 144,777,246 (GRCm39) missense probably damaging 1.00
IGL02287:Trrap APN 5 144,769,348 (GRCm39) missense probably damaging 1.00
IGL02301:Trrap APN 5 144,714,727 (GRCm39) missense probably benign 0.05
IGL02336:Trrap APN 5 144,735,200 (GRCm39) missense probably benign 0.39
IGL02526:Trrap APN 5 144,761,360 (GRCm39) missense probably benign 0.00
IGL02873:Trrap APN 5 144,777,889 (GRCm39) splice site probably benign
IGL02953:Trrap APN 5 144,752,774 (GRCm39) missense probably damaging 0.99
IGL03404:Trrap APN 5 144,769,996 (GRCm39) missense probably benign 0.00
Buffer UTSW 5 144,771,014 (GRCm39) missense probably benign 0.06
Card-tower UTSW 5 144,741,576 (GRCm39) missense probably damaging 1.00
Cookie UTSW 5 144,730,859 (GRCm39) missense probably damaging 1.00
Glass_house UTSW 5 144,782,287 (GRCm39) missense possibly damaging 0.67
Immovable UTSW 5 144,727,665 (GRCm39) missense possibly damaging 0.66
R5049_trrap_520 UTSW 5 144,763,527 (GRCm39) missense probably damaging 1.00
R7167_Trrap_977 UTSW 5 144,776,424 (GRCm39) missense probably benign 0.39
vitreous UTSW 5 144,742,537 (GRCm39) missense probably damaging 1.00
PIT4243001:Trrap UTSW 5 144,733,781 (GRCm39) missense probably benign 0.00
PIT4466001:Trrap UTSW 5 144,765,410 (GRCm39) missense probably benign 0.02
R0062:Trrap UTSW 5 144,719,003 (GRCm39) splice site probably benign
R0062:Trrap UTSW 5 144,719,003 (GRCm39) splice site probably benign
R0112:Trrap UTSW 5 144,759,571 (GRCm39) nonsense probably null
R0126:Trrap UTSW 5 144,742,560 (GRCm39) nonsense probably null
R0257:Trrap UTSW 5 144,741,045 (GRCm39) missense probably benign 0.31
R0325:Trrap UTSW 5 144,753,205 (GRCm39) missense probably benign 0.05
R0376:Trrap UTSW 5 144,753,149 (GRCm39) missense probably benign 0.03
R0396:Trrap UTSW 5 144,751,366 (GRCm39) missense probably damaging 0.99
R0448:Trrap UTSW 5 144,776,377 (GRCm39) missense possibly damaging 0.66
R0454:Trrap UTSW 5 144,783,287 (GRCm39) missense probably damaging 1.00
R0711:Trrap UTSW 5 144,790,309 (GRCm39) missense probably damaging 1.00
R0827:Trrap UTSW 5 144,751,640 (GRCm39) missense probably benign 0.00
R1005:Trrap UTSW 5 144,742,537 (GRCm39) missense probably damaging 1.00
R1147:Trrap UTSW 5 144,741,576 (GRCm39) missense probably damaging 1.00
R1147:Trrap UTSW 5 144,741,576 (GRCm39) missense probably damaging 1.00
R1218:Trrap UTSW 5 144,753,219 (GRCm39) missense probably damaging 1.00
R1264:Trrap UTSW 5 144,726,409 (GRCm39) splice site probably benign
R1374:Trrap UTSW 5 144,783,428 (GRCm39) missense probably damaging 1.00
R1401:Trrap UTSW 5 144,794,232 (GRCm39) missense possibly damaging 0.93
R1480:Trrap UTSW 5 144,755,123 (GRCm39) missense probably benign
R1538:Trrap UTSW 5 144,774,012 (GRCm39) missense possibly damaging 0.65
R1751:Trrap UTSW 5 144,751,385 (GRCm39) critical splice donor site probably null
R1779:Trrap UTSW 5 144,765,400 (GRCm39) missense probably benign 0.01
R1782:Trrap UTSW 5 144,759,513 (GRCm39) missense possibly damaging 0.93
R1792:Trrap UTSW 5 144,790,396 (GRCm39) missense possibly damaging 0.87
R1859:Trrap UTSW 5 144,767,761 (GRCm39) missense probably benign 0.04
R1861:Trrap UTSW 5 144,752,727 (GRCm39) splice site probably null
R1902:Trrap UTSW 5 144,752,863 (GRCm39) missense probably damaging 1.00
R1903:Trrap UTSW 5 144,752,863 (GRCm39) missense probably damaging 1.00
R2021:Trrap UTSW 5 144,790,298 (GRCm39) missense possibly damaging 0.94
R2026:Trrap UTSW 5 144,739,854 (GRCm39) missense possibly damaging 0.86
R2036:Trrap UTSW 5 144,765,372 (GRCm39) missense probably benign 0.08
R2099:Trrap UTSW 5 144,719,049 (GRCm39) missense possibly damaging 0.46
R2108:Trrap UTSW 5 144,762,684 (GRCm39) missense probably benign 0.01
R2113:Trrap UTSW 5 144,781,021 (GRCm39) missense probably damaging 1.00
R2174:Trrap UTSW 5 144,758,665 (GRCm39) missense probably benign 0.40
R2442:Trrap UTSW 5 144,754,776 (GRCm39) missense probably damaging 1.00
R2568:Trrap UTSW 5 144,780,179 (GRCm39) critical splice donor site probably null
R3442:Trrap UTSW 5 144,729,062 (GRCm39) missense probably benign 0.03
R3853:Trrap UTSW 5 144,728,975 (GRCm39) missense probably damaging 1.00
R4401:Trrap UTSW 5 144,780,128 (GRCm39) missense possibly damaging 0.60
R4493:Trrap UTSW 5 144,767,858 (GRCm39) missense probably benign 0.21
R4524:Trrap UTSW 5 144,762,131 (GRCm39) missense probably benign 0.38
R4569:Trrap UTSW 5 144,728,928 (GRCm39) missense probably benign 0.13
R4672:Trrap UTSW 5 144,722,290 (GRCm39) missense probably damaging 0.97
R4732:Trrap UTSW 5 144,753,380 (GRCm39) missense probably damaging 1.00
R4733:Trrap UTSW 5 144,753,380 (GRCm39) missense probably damaging 1.00
R4791:Trrap UTSW 5 144,740,087 (GRCm39) missense probably damaging 1.00
R4795:Trrap UTSW 5 144,769,298 (GRCm39) missense probably benign 0.06
R4827:Trrap UTSW 5 144,737,758 (GRCm39) missense probably benign 0.02
R4839:Trrap UTSW 5 144,782,402 (GRCm39) missense probably damaging 1.00
R4915:Trrap UTSW 5 144,742,545 (GRCm39) missense probably damaging 0.99
R4951:Trrap UTSW 5 144,742,530 (GRCm39) missense possibly damaging 0.65
R4959:Trrap UTSW 5 144,793,770 (GRCm39) missense probably damaging 1.00
R5049:Trrap UTSW 5 144,763,527 (GRCm39) missense probably damaging 1.00
R5074:Trrap UTSW 5 144,787,989 (GRCm39) missense probably damaging 1.00
R5236:Trrap UTSW 5 144,754,596 (GRCm39) missense probably benign 0.07
R5281:Trrap UTSW 5 144,750,313 (GRCm39) missense probably benign 0.13
R5322:Trrap UTSW 5 144,781,034 (GRCm39) missense probably damaging 1.00
R5457:Trrap UTSW 5 144,786,787 (GRCm39) missense probably damaging 1.00
R5590:Trrap UTSW 5 144,719,075 (GRCm39) missense probably benign 0.05
R5799:Trrap UTSW 5 144,767,755 (GRCm39) missense probably benign
R5885:Trrap UTSW 5 144,731,603 (GRCm39) missense probably damaging 1.00
R5905:Trrap UTSW 5 144,786,730 (GRCm39) missense possibly damaging 0.95
R5908:Trrap UTSW 5 144,723,518 (GRCm39) missense probably damaging 0.96
R5956:Trrap UTSW 5 144,744,201 (GRCm39) splice site silent
R5992:Trrap UTSW 5 144,746,994 (GRCm39) missense probably benign 0.00
R6017:Trrap UTSW 5 144,781,051 (GRCm39) missense probably damaging 1.00
R6029:Trrap UTSW 5 144,762,724 (GRCm39) missense possibly damaging 0.75
R6029:Trrap UTSW 5 144,754,489 (GRCm39) missense possibly damaging 0.94
R6117:Trrap UTSW 5 144,739,771 (GRCm39) missense possibly damaging 0.78
R6166:Trrap UTSW 5 144,718,791 (GRCm39) missense possibly damaging 0.66
R6234:Trrap UTSW 5 144,776,523 (GRCm39) splice site probably null
R6288:Trrap UTSW 5 144,748,802 (GRCm39) missense probably damaging 1.00
R6290:Trrap UTSW 5 144,741,828 (GRCm39) missense probably damaging 1.00
R6316:Trrap UTSW 5 144,750,336 (GRCm39) missense probably benign 0.02
R6398:Trrap UTSW 5 144,727,680 (GRCm39) missense possibly damaging 0.83
R6413:Trrap UTSW 5 144,720,856 (GRCm39) missense possibly damaging 0.83
R6499:Trrap UTSW 5 144,793,812 (GRCm39) missense probably damaging 1.00
R6529:Trrap UTSW 5 144,771,014 (GRCm39) missense probably benign 0.06
R6574:Trrap UTSW 5 144,752,360 (GRCm39) critical splice donor site probably null
R6631:Trrap UTSW 5 144,708,460 (GRCm39) missense possibly damaging 0.94
R6727:Trrap UTSW 5 144,793,760 (GRCm39) missense probably damaging 1.00
R6776:Trrap UTSW 5 144,788,066 (GRCm39) nonsense probably null
R6914:Trrap UTSW 5 144,720,853 (GRCm39) missense possibly damaging 0.83
R6942:Trrap UTSW 5 144,720,853 (GRCm39) missense possibly damaging 0.83
R6945:Trrap UTSW 5 144,727,665 (GRCm39) missense possibly damaging 0.66
R7023:Trrap UTSW 5 144,728,964 (GRCm39) missense possibly damaging 0.64
R7107:Trrap UTSW 5 144,733,945 (GRCm39) missense probably benign 0.05
R7139:Trrap UTSW 5 144,739,988 (GRCm39) missense possibly damaging 0.65
R7148:Trrap UTSW 5 144,758,613 (GRCm39) missense possibly damaging 0.77
R7167:Trrap UTSW 5 144,776,424 (GRCm39) missense probably benign 0.39
R7171:Trrap UTSW 5 144,730,859 (GRCm39) missense probably damaging 1.00
R7205:Trrap UTSW 5 144,779,517 (GRCm39) missense possibly damaging 0.94
R7215:Trrap UTSW 5 144,733,945 (GRCm39) missense probably benign 0.05
R7255:Trrap UTSW 5 144,795,764 (GRCm39) missense probably damaging 1.00
R7261:Trrap UTSW 5 144,782,287 (GRCm39) missense possibly damaging 0.67
R7264:Trrap UTSW 5 144,751,333 (GRCm39) missense probably benign 0.05
R7372:Trrap UTSW 5 144,726,208 (GRCm39) missense probably benign
R7447:Trrap UTSW 5 144,776,284 (GRCm39) missense probably damaging 0.97
R7449:Trrap UTSW 5 144,788,019 (GRCm39) missense probably damaging 1.00
R7655:Trrap UTSW 5 144,779,422 (GRCm39) missense probably damaging 1.00
R7656:Trrap UTSW 5 144,779,422 (GRCm39) missense probably damaging 1.00
R7662:Trrap UTSW 5 144,769,321 (GRCm39) missense probably benign 0.00
R7716:Trrap UTSW 5 144,713,956 (GRCm39) missense possibly damaging 0.73
R8143:Trrap UTSW 5 144,772,707 (GRCm39) splice site probably null
R8183:Trrap UTSW 5 144,765,343 (GRCm39) missense probably benign 0.01
R8265:Trrap UTSW 5 144,722,344 (GRCm39) missense possibly damaging 0.53
R8273:Trrap UTSW 5 144,727,975 (GRCm39) missense probably damaging 1.00
R8556:Trrap UTSW 5 144,762,747 (GRCm39) missense probably benign 0.44
R8674:Trrap UTSW 5 144,727,842 (GRCm39) missense probably benign 0.02
R8777:Trrap UTSW 5 144,773,949 (GRCm39) missense probably benign 0.10
R8777-TAIL:Trrap UTSW 5 144,773,949 (GRCm39) missense probably benign 0.10
R8817:Trrap UTSW 5 144,782,348 (GRCm39) missense probably damaging 1.00
R8841:Trrap UTSW 5 144,781,021 (GRCm39) missense probably damaging 1.00
R8871:Trrap UTSW 5 144,758,649 (GRCm39) missense probably benign 0.30
R8937:Trrap UTSW 5 144,757,063 (GRCm39) missense probably damaging 1.00
R8966:Trrap UTSW 5 144,740,162 (GRCm39) missense probably damaging 0.96
R9010:Trrap UTSW 5 144,783,226 (GRCm39) missense probably damaging 1.00
R9095:Trrap UTSW 5 144,733,961 (GRCm39) missense probably damaging 1.00
R9127:Trrap UTSW 5 144,767,830 (GRCm39) missense probably benign 0.16
R9132:Trrap UTSW 5 144,726,362 (GRCm39) missense probably benign 0.03
R9224:Trrap UTSW 5 144,708,049 (GRCm39) missense possibly damaging 0.70
R9338:Trrap UTSW 5 144,727,925 (GRCm39) missense probably benign
R9380:Trrap UTSW 5 144,769,981 (GRCm39) missense probably benign
R9404:Trrap UTSW 5 144,752,225 (GRCm39) missense possibly damaging 0.85
R9457:Trrap UTSW 5 144,763,478 (GRCm39) missense probably damaging 1.00
R9464:Trrap UTSW 5 144,763,517 (GRCm39) missense probably damaging 0.99
R9504:Trrap UTSW 5 144,742,904 (GRCm39) missense probably damaging 1.00
R9583:Trrap UTSW 5 144,777,330 (GRCm39) missense probably damaging 1.00
R9584:Trrap UTSW 5 144,777,330 (GRCm39) missense probably damaging 1.00
R9585:Trrap UTSW 5 144,777,330 (GRCm39) missense probably damaging 1.00
R9608:Trrap UTSW 5 144,780,128 (GRCm39) missense possibly damaging 0.60
R9728:Trrap UTSW 5 144,726,193 (GRCm39) missense probably benign 0.22
R9782:Trrap UTSW 5 144,758,716 (GRCm39) missense probably damaging 0.99
X0060:Trrap UTSW 5 144,780,171 (GRCm39) missense probably damaging 0.96
Z1088:Trrap UTSW 5 144,771,007 (GRCm39) missense probably benign 0.00
Z1177:Trrap UTSW 5 144,756,518 (GRCm39) missense probably damaging 1.00
Z1177:Trrap UTSW 5 144,747,154 (GRCm39) missense
Z1177:Trrap UTSW 5 144,793,761 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15