Incidental Mutation 'IGL01783:Tbrg1'
ID 154202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbrg1
Ensembl Gene ENSMUSG00000011114
Gene Name transforming growth factor beta regulated gene 1
Synonyms TB-5
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.262) question?
Stock # IGL01783
Quality Score
Status
Chromosome 9
Chromosomal Location 37648763-37657312 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 37654300 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 119 (P119T)
Ref Sequence ENSEMBL: ENSMUSP00000150375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117654] [ENSMUST00000142736] [ENSMUST00000215474]
AlphaFold Q3UB74
Predicted Effect probably benign
Transcript: ENSMUST00000117654
AA Change: P119T

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112600
Gene: ENSMUSG00000011114
AA Change: P119T

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 possibly damaging
Transcript: ENSMUST00000142736
AA Change: P119T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000215474
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 9,987,900 Y166H possibly damaging Het
Abi3bp G A 16: 56,532,969 probably null Het
Actrt3 T C 3: 30,598,475 T157A probably benign Het
Adam26b T C 8: 43,521,761 K68R probably benign Het
Adgrg7 A G 16: 56,747,919 probably null Het
Ano6 T C 15: 95,962,262 I755T possibly damaging Het
Basp1 T C 15: 25,364,867 N15D unknown Het
Bod1l T C 5: 41,808,712 N2670S probably benign Het
Btbd3 T A 2: 138,283,736 I280N probably damaging Het
Cdh16 T A 8: 104,617,856 Y17F probably damaging Het
Clmp G T 9: 40,782,407 G307W possibly damaging Het
Clrn2 C A 5: 45,460,161 Q125K probably benign Het
Ctnna3 C T 10: 63,820,469 A276V possibly damaging Het
Dram2 A T 3: 106,573,656 T172S possibly damaging Het
Dync2h1 G A 9: 7,118,822 probably benign Het
Ezr T C 17: 6,742,489 probably benign Het
Gbe1 T C 16: 70,401,855 probably null Het
Gbe1 T A 16: 70,478,369 D352E probably damaging Het
Gpr18 T A 14: 121,912,377 M79L probably benign Het
Gss T C 2: 155,571,559 Y196C probably damaging Het
Gtpbp1 T C 15: 79,716,197 S444P probably damaging Het
Hecw1 C T 13: 14,278,293 R712K probably damaging Het
Helz2 T G 2: 181,232,881 D1940A probably damaging Het
Hmcn1 A T 1: 150,615,300 V4166E possibly damaging Het
Klkb1 T C 8: 45,276,391 Y297C probably damaging Het
Krt75 T A 15: 101,564,929 I537F probably benign Het
Lrp1b T A 2: 41,312,572 T1176S probably damaging Het
Nid2 T C 14: 19,768,677 L413P probably benign Het
Olfr1086 A G 2: 86,677,081 V84A probably benign Het
Olfr1122 T A 2: 87,387,843 M46K possibly damaging Het
Olfr1122 G T 2: 87,387,838 L44F probably benign Het
Olfr1206 T C 2: 88,864,842 L79P probably damaging Het
Piwil1 A G 5: 128,743,826 N272D probably benign Het
Ppfia3 T C 7: 45,360,057 probably null Het
Prkg1 A G 19: 30,624,689 V389A probably damaging Het
Sema3a C A 5: 13,561,800 S344R probably damaging Het
Serpina3j T C 12: 104,318,491 L309P probably damaging Het
Slc15a1 A G 14: 121,471,276 probably null Het
Sp8 G T 12: 118,849,024 A205S probably benign Het
Speer4a T A 5: 26,035,047 Q235L possibly damaging Het
St6gal1 A G 16: 23,321,555 T159A probably benign Het
Tmem59l T C 8: 70,487,224 T32A probably damaging Het
Trmt13 G A 3: 116,582,912 R277* probably null Het
Zfp316 A G 5: 143,262,876 F205S unknown Het
Zfp418 G T 7: 7,181,449 W137L possibly damaging Het
Zp3r A T 1: 130,598,866 V200D 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
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
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
Posted On 2014-02-04