Incidental Mutation 'R4506:Tbrg1'
ID 332022
Institutional Source Beutler Lab
Gene Symbol Tbrg1
Ensembl Gene ENSMUSG00000011114
Gene Name transforming growth factor beta regulated gene 1
Synonyms TB-5
MMRRC Submission 041584-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.286) question?
Stock # R4506 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 37648763-37657312 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37654395 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 87 (E87V)
Ref Sequence ENSEMBL: ENSMUSP00000150375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117654] [ENSMUST00000142736] [ENSMUST00000215474]
AlphaFold Q3UB74
Predicted Effect probably damaging
Transcript: ENSMUST00000117654
AA Change: E87V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112600
Gene: ENSMUSG00000011114
AA Change: E87V

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
coiled coil region 56 79 N/A INTRINSIC
low complexity region 90 104 N/A INTRINSIC
low complexity region 124 156 N/A INTRINSIC
FYRN 192 235 1.05e-18 SMART
Pfam:FYRC 238 316 1.4e-23 PFAM
low complexity region 349 354 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134711
Predicted Effect probably damaging
Transcript: ENSMUST00000142736
AA Change: E87V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215474
Meta Mutation Damage Score 0.3575 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (42/43)
MGI Phenotype PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit increased embryonic survival and increased tumor incidence including B cell lymphoma. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,794,261 P137T probably damaging Het
Abcc5 A T 16: 20,333,695 I1367N probably damaging Het
Ace T A 11: 105,976,666 L152Q probably damaging Het
Adam19 G A 11: 46,118,444 D232N possibly damaging Het
Anapc4 A T 5: 52,835,730 N61I possibly damaging Het
Ap5m1 T C 14: 49,073,761 V96A probably damaging Het
Atr T A 9: 95,865,237 C191S probably benign Het
Carmil3 GGACGA GGA 14: 55,499,476 probably benign Het
Cnot6l A T 5: 96,086,174 V326E possibly damaging Het
Fcer2a A T 8: 3,688,603 probably null Het
Fgfr3 A G 5: 33,729,999 T221A probably damaging Het
Gm6632 C T 5: 59,054,478 noncoding transcript Het
Gm8909 A T 17: 36,161,480 probably benign Het
Gpr158 T A 2: 21,826,999 M970K probably damaging Het
Ip6k3 A T 17: 27,145,180 L298Q possibly damaging Het
Itpr1 A G 6: 108,432,686 D1727G probably damaging Het
Kdm2b T C 5: 122,888,625 T589A possibly damaging Het
Krtcap2 A G 3: 89,246,256 probably benign Het
Map3k13 A G 16: 21,922,178 S752G probably benign Het
Mvb12a G T 8: 71,543,459 A86S probably benign Het
Nktr T A 9: 121,748,883 probably benign Het
Olfr160 C T 9: 37,711,464 V272I probably benign Het
Olfr393 A T 11: 73,847,695 C143* probably null Het
Parp4 T A 14: 56,652,304 N1847K unknown Het
Pcdhga8 G C 18: 37,816,763 V411L probably damaging Het
Piwil4 T C 9: 14,725,963 T352A probably damaging Het
Ric8a A G 7: 140,858,516 I223V probably benign Het
Slc25a51 C T 4: 45,399,768 V141M probably benign Het
Slc7a5 A T 8: 121,887,495 probably null Het
Slc7a9 A T 7: 35,453,420 T88S probably damaging Het
Tnfsf4 T C 1: 161,417,174 S145P probably damaging Het
Tomm34 C A 2: 164,054,372 probably null Het
Trpv3 A G 11: 73,295,324 N647S probably benign Het
Upf1 G A 8: 70,337,566 R637C probably damaging Het
Vmn2r23 A T 6: 123,702,925 Q35H probably damaging Het
Wdtc1 C T 4: 133,308,819 V137M probably damaging Het
Zfp276 G A 8: 123,264,927 probably null Het
Zfp90 C T 8: 106,424,864 P403L possibly damaging Het
Other mutations in Tbrg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Tbrg1 APN 9 37651041 missense probably benign 0.01
IGL01327:Tbrg1 APN 9 37653112 missense probably benign 0.00
IGL01783:Tbrg1 APN 9 37654300 missense possibly damaging 0.82
IGL02412:Tbrg1 APN 9 37652612 splice site probably null
R0125:Tbrg1 UTSW 9 37652641 missense probably benign 0.02
R1991:Tbrg1 UTSW 9 37649419 missense probably benign 0.13
R2103:Tbrg1 UTSW 9 37649419 missense probably benign 0.13
R4672:Tbrg1 UTSW 9 37651336 missense probably damaging 0.99
R4895:Tbrg1 UTSW 9 37655079 missense probably damaging 1.00
R5635:Tbrg1 UTSW 9 37654991 intron probably benign
R5643:Tbrg1 UTSW 9 37649413 missense probably benign 0.00
R5644:Tbrg1 UTSW 9 37649413 missense probably benign 0.00
R5796:Tbrg1 UTSW 9 37652575 unclassified probably benign
R5871:Tbrg1 UTSW 9 37650982 missense probably damaging 1.00
R7699:Tbrg1 UTSW 9 37649475 missense probably benign 0.05
R8117:Tbrg1 UTSW 9 37657000 missense possibly damaging 0.53
R8713:Tbrg1 UTSW 9 37652659 missense probably damaging 1.00
R8984:Tbrg1 UTSW 9 37652653 missense probably damaging 1.00
R9372:Tbrg1 UTSW 9 37652649 missense probably damaging 1.00
Z1177:Tbrg1 UTSW 9 37653038 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATCAGTAGAGCCTCCGAGG -3'
(R):5'- GCCTCTGTCTCCAATAAGAGC -3'

Sequencing Primer
(F):5'- GAGGCCACTGCTACACTATC -3'
(R):5'- AGAGCCTTATTGTGTGATAATCTTTG -3'
Posted On 2015-07-21