Incidental Mutation 'R8713:Tbrg1'
ID 669719
Institutional Source Beutler Lab
Gene Symbol Tbrg1
Ensembl Gene ENSMUSG00000011114
Gene Name transforming growth factor beta regulated gene 1
Synonyms TB-5
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.286) question?
Stock # R8713 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 37648763-37657312 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37652659 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 227 (C227R)
Ref Sequence ENSEMBL: ENSMUSP00000112600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002007] [ENSMUST00000117654] [ENSMUST00000142736] [ENSMUST00000215474]
AlphaFold Q3UB74
Predicted Effect probably benign
Transcript: ENSMUST00000002007
SMART Domains Protein: ENSMUSP00000002007
Gene: ENSMUSG00000001942

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:DUF303 118 420 1.1e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117654
AA Change: C227R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112600
Gene: ENSMUSG00000011114
AA Change: C227R

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 probably benign
Transcript: ENSMUST00000142736
Predicted Effect probably benign
Transcript: ENSMUST00000215474
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 35,873,174 A581V possibly damaging Het
Adam18 T A 8: 24,652,173 M196L probably benign Het
Ankrd10 A G 8: 11,628,491 S134P probably damaging Het
Ano8 C T 8: 71,485,077 G47D probably damaging Het
Arl6ip4 T C 5: 124,116,762 V4A unknown Het
Cabp4 C T 19: 4,136,160 M247I probably benign Het
Ccdc30 A T 4: 119,404,207 L11Q probably damaging Het
Cdkl4 A G 17: 80,533,863 S288P possibly damaging Het
Celsr3 A G 9: 108,829,863 I1182V probably benign Het
Dnah17 T C 11: 118,088,202 D1788G probably damaging Het
Dsp A G 13: 38,168,725 D193G probably damaging Het
Dym T G 18: 75,056,738 Y132* probably null Het
Dync2h1 G A 9: 7,141,008 Q1340* probably null Het
Elmo1 T C 13: 20,274,621 probably benign Het
Fbxw15 A C 9: 109,555,599 F378V possibly damaging Het
Fsip2 G A 2: 82,981,109 G2591R probably damaging Het
Gps2 C A 11: 69,915,354 D148E probably benign Het
Iars2 T C 1: 185,291,418 D772G possibly damaging Het
Ifit1 T A 19: 34,647,638 L58Q probably benign Het
Kctd4 A T 14: 75,962,926 Q112H probably benign Het
Letm1 A G 5: 33,762,505 L230P probably damaging Het
Lrch4 G T 5: 137,639,863 E136* probably null Het
Macc1 T C 12: 119,443,526 probably benign Het
Macrod1 T C 19: 7,057,126 L79P probably benign Het
Map2 T A 1: 66,414,622 N890K probably damaging Het
Mctp1 G A 13: 76,641,803 S270N probably benign Het
Mrpl44 C T 1: 79,777,991 R105C probably damaging Het
Mtg1 T A 7: 140,137,775 probably null Het
Mtg1 T C 7: 140,140,223 F68L probably benign Het
Nfil3 A G 13: 52,968,011 S286P possibly damaging Het
Nutm1 A G 2: 112,251,322 V332A possibly damaging Het
Obscn T A 11: 59,135,966 Q137L probably benign Het
Pcnx2 T G 8: 125,818,786 E1162A probably damaging Het
Pgr A G 9: 8,900,817 D117G possibly damaging Het
Plce1 T C 19: 38,524,901 C215R probably benign Het
Rrm1 T G 7: 102,460,351 Y461D probably damaging Het
Sbk3 C T 7: 4,969,992 V60I possibly damaging Het
Scube1 G T 15: 83,610,270 A852E possibly damaging Het
Sec24d T A 3: 123,343,892 I561N probably damaging Het
Slc16a4 T C 3: 107,311,585 *501Q probably null Het
Slc6a19 C A 13: 73,700,621 V5L probably benign Het
Spryd3 A G 15: 102,133,485 I34T possibly damaging Het
Syne1 A G 10: 5,316,040 L2191P probably damaging Het
Tdrd6 A G 17: 43,625,019 S1713P probably benign Het
Thap12 C T 7: 98,707,076 L57F probably benign Het
Top1 G A 2: 160,717,440 V628I probably damaging Het
Trim67 A G 8: 124,820,335 M495V probably null Het
Trio A C 15: 27,743,951 probably benign Het
Vmn2r23 A T 6: 123,703,032 Y71F Het
Ywhah A G 5: 33,027,191 N246S probably benign Het
Zcwpw1 T C 5: 137,799,532 I125T probably benign 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
R4506:Tbrg1 UTSW 9 37654395 missense probably damaging 1.00
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
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'- TGACAGGCTAGCCAGTTTTC -3'
(R):5'- GCCCCAAAGTTCCTCTAAAGG -3'

Sequencing Primer
(F):5'- CCTGCATCTCTGTGTTGTATAAATG -3'
(R):5'- GGCTACCATAGTAAACTGGGCTC -3'
Posted On 2021-04-30