Incidental Mutation 'R3960:Tbrg4'
ID 312061
Institutional Source Beutler Lab
Gene Symbol Tbrg4
Ensembl Gene ENSMUSG00000000384
Gene Name transforming growth factor beta regulated gene 4
Synonyms 2310042P22Rik, TB-12, Cpr2
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R3960 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 6565598-6576067 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6568077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 484 (S484P)
Ref Sequence ENSEMBL: ENSMUSP00000140835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000394] [ENSMUST00000156969] [ENSMUST00000189268] [ENSMUST00000150697] [ENSMUST00000136682]
AlphaFold Q91YM4
Predicted Effect probably benign
Transcript: ENSMUST00000000394
AA Change: S484P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000394
Gene: ENSMUSG00000000384
AA Change: S484P

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
Pfam:FAST_1 368 437 5.9e-24 PFAM
Pfam:FAST_2 450 535 7.4e-27 PFAM
RAP 562 619 4.01e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132446
Predicted Effect probably benign
Transcript: ENSMUST00000156969
AA Change: S484P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114256
Gene: ENSMUSG00000000384
AA Change: S484P

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
Pfam:FAST_1 367 438 1.1e-23 PFAM
Pfam:FAST_2 448 535 7.4e-29 PFAM
RAP 562 619 4.01e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189268
AA Change: S484P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140835
Gene: ENSMUSG00000000384
AA Change: S484P

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
Pfam:FAST_1 367 438 1.1e-23 PFAM
Pfam:FAST_2 448 535 7.4e-29 PFAM
RAP 562 619 4.01e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151008
Predicted Effect probably benign
Transcript: ENSMUST00000150697
SMART Domains Protein: ENSMUSP00000123131
Gene: ENSMUSG00000000384

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
SCOP:d1gw5a_ 81 250 6e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136682
SMART Domains Protein: ENSMUSP00000114174
Gene: ENSMUSG00000000384

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Celf4 A G 18: 25,670,811 (GRCm39) M124T probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Etl4 A G 2: 20,344,854 (GRCm39) T53A probably benign Het
Hao1 A C 2: 134,364,903 (GRCm39) probably null Het
Hmgcs2 T C 3: 98,204,793 (GRCm39) F317S possibly damaging Het
Ildr2 T A 1: 166,136,909 (GRCm39) W564R probably damaging Het
Impg1 G T 9: 80,322,917 (GRCm39) F29L probably benign Het
Itgam T C 7: 127,714,347 (GRCm39) V834A probably benign Het
Itpr2 C T 6: 146,327,008 (GRCm39) V120I probably damaging Het
Itpr2 T C 6: 146,131,262 (GRCm39) N1948D probably damaging Het
Katnb1 T C 8: 95,813,925 (GRCm39) V17A possibly damaging Het
Nipbl T C 15: 8,380,018 (GRCm39) N925D probably benign Het
Oasl2 T C 5: 115,043,098 (GRCm39) V70A probably benign Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Pcdh10 A G 3: 45,333,749 (GRCm39) H21R probably benign Het
Prkg2 G T 5: 99,145,354 (GRCm39) T160K possibly damaging Het
Sec23ip C G 7: 128,378,574 (GRCm39) T796S probably benign Het
Smarcd2 A G 11: 106,157,401 (GRCm39) S182P probably damaging Het
Tprkb A G 6: 85,905,783 (GRCm39) E156G probably benign Het
Zfp647 A G 15: 76,795,176 (GRCm39) probably null Het
Other mutations in Tbrg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Tbrg4 APN 11 6,568,522 (GRCm39) missense possibly damaging 0.94
IGL02225:Tbrg4 APN 11 6,574,094 (GRCm39) missense probably damaging 0.97
IGL02332:Tbrg4 APN 11 6,568,492 (GRCm39) missense probably damaging 0.98
PIT4449001:Tbrg4 UTSW 11 6,569,689 (GRCm39) missense probably damaging 1.00
PIT4453001:Tbrg4 UTSW 11 6,570,857 (GRCm39) missense probably damaging 1.00
R0412:Tbrg4 UTSW 11 6,573,832 (GRCm39) missense probably benign
R0732:Tbrg4 UTSW 11 6,570,812 (GRCm39) missense probably benign 0.19
R0943:Tbrg4 UTSW 11 6,569,008 (GRCm39) missense probably damaging 1.00
R4618:Tbrg4 UTSW 11 6,570,185 (GRCm39) intron probably benign
R4686:Tbrg4 UTSW 11 6,568,468 (GRCm39) missense probably benign 0.00
R4767:Tbrg4 UTSW 11 6,570,909 (GRCm39) missense probably benign 0.00
R5240:Tbrg4 UTSW 11 6,567,516 (GRCm39) critical splice donor site probably null
R5457:Tbrg4 UTSW 11 6,570,947 (GRCm39) missense probably damaging 1.00
R5898:Tbrg4 UTSW 11 6,567,372 (GRCm39) missense probably damaging 0.98
R7173:Tbrg4 UTSW 11 6,570,810 (GRCm39) missense possibly damaging 0.80
R7343:Tbrg4 UTSW 11 6,570,065 (GRCm39) missense probably benign 0.28
R8017:Tbrg4 UTSW 11 6,568,517 (GRCm39) missense probably damaging 0.99
R8019:Tbrg4 UTSW 11 6,568,517 (GRCm39) missense probably damaging 0.99
R8854:Tbrg4 UTSW 11 6,566,691 (GRCm39) missense probably benign 0.00
R9294:Tbrg4 UTSW 11 6,574,204 (GRCm39) missense probably benign 0.18
X0013:Tbrg4 UTSW 11 6,567,540 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GGTTACAAAGGCCCCTGTAAG -3'
(R):5'- GCTACTGCTGTATCTCCTGTGG -3'

Sequencing Primer
(F):5'- TGTAATGGGATCCAATGCCC -3'
(R):5'- GTGGTCCCCATTCTGCATCTG -3'
Posted On 2015-04-29