Incidental Mutation 'R7343:Tbrg4'
ID 570031
Institutional Source Beutler Lab
Gene Symbol Tbrg4
Ensembl Gene ENSMUSG00000000384
Gene Name transforming growth factor beta regulated gene 4
Synonyms 2310042P22Rik, TB-12, Cpr2
MMRRC Submission 045433-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R7343 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 6565598-6576067 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6570065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 270 (S270P)
Ref Sequence ENSEMBL: ENSMUSP00000000394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000394] [ENSMUST00000136682] [ENSMUST00000144463] [ENSMUST00000150697] [ENSMUST00000156969] [ENSMUST00000189268]
AlphaFold Q91YM4
Predicted Effect probably benign
Transcript: ENSMUST00000000394
AA Change: S270P

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000000394
Gene: ENSMUSG00000000384
AA Change: S270P

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 probably benign
Transcript: ENSMUST00000136682
SMART Domains Protein: ENSMUSP00000114174
Gene: ENSMUSG00000000384

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144463
SMART Domains Protein: ENSMUSP00000120103
Gene: ENSMUSG00000000384

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000150697
AA Change: S270P

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123131
Gene: ENSMUSG00000000384
AA Change: S270P

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
SCOP:d1gw5a_ 81 250 6e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156969
AA Change: S270P

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114256
Gene: ENSMUSG00000000384
AA Change: S270P

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: S270P

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140835
Gene: ENSMUSG00000000384
AA Change: S270P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A C 6: 83,139,353 (GRCm39) N426T probably benign Het
6430548M08Rik A G 8: 120,872,327 (GRCm39) D85G probably benign Het
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Abcg3 A T 5: 105,116,100 (GRCm39) F245I probably benign Het
Abhd17a G T 10: 80,419,991 (GRCm39) F231L possibly damaging Het
Adgra1 A T 7: 139,456,058 (GRCm39) D562V probably damaging Het
Akap7 C A 10: 25,165,567 (GRCm39) probably benign Het
Akap9 A G 5: 4,096,364 (GRCm39) D2413G probably damaging Het
Akr1c18 A T 13: 4,187,236 (GRCm39) C193S probably damaging Het
Aloxe3 A T 11: 69,023,569 (GRCm39) M231L probably benign Het
Apoh A G 11: 108,286,674 (GRCm39) T33A probably benign Het
Atp13a5 T C 16: 29,140,567 (GRCm39) N330D probably benign Het
C1ql3 T G 2: 13,015,589 (GRCm39) M24L probably benign Het
Cacna1d T C 14: 29,845,014 (GRCm39) N712S probably benign Het
Cbs T C 17: 31,838,113 (GRCm39) M379V possibly damaging Het
Ccdc167 T C 17: 29,924,517 (GRCm39) D28G probably damaging Het
Ccp110 A T 7: 118,323,798 (GRCm39) Q679L probably benign Het
Ccz1 A T 5: 143,935,000 (GRCm39) L310H probably damaging Het
Cerkl A T 2: 79,259,104 (GRCm39) D44E probably damaging Het
Cfap221 T A 1: 119,922,828 (GRCm39) E38V possibly damaging Het
Chia1 T A 3: 106,039,331 (GRCm39) *474R probably null Het
Clint1 C T 11: 45,774,590 (GRCm39) T32M probably damaging Het
Clk3 A T 9: 57,668,239 (GRCm39) F227L probably damaging Het
Col5a3 C T 9: 20,705,242 (GRCm39) probably null Het
Cul2 T C 18: 3,426,873 (GRCm39) I501T probably benign Het
Dag1 G A 9: 108,086,292 (GRCm39) A283V possibly damaging Het
Ddr2 A T 1: 169,809,647 (GRCm39) W777R probably damaging Het
Deaf1 A T 7: 140,902,871 (GRCm39) V151D probably damaging Het
Dido1 A T 2: 180,316,914 (GRCm39) V631E possibly damaging Het
Dpp4 G A 2: 62,189,245 (GRCm39) Q429* probably null Het
Dscaml1 A G 9: 45,664,214 (GRCm39) R2030G probably benign Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
E2f8 T A 7: 48,517,713 (GRCm39) M697L probably damaging Het
Eef2kmt C A 16: 5,065,299 (GRCm39) G303W probably damaging Het
Eif2ak1 A G 5: 143,814,489 (GRCm39) Y182C probably damaging Het
Epha6 G T 16: 59,780,793 (GRCm39) A636E probably damaging Het
Fancd2 G A 6: 113,513,900 (GRCm39) V95I probably benign Het
Fbln5 A T 12: 101,727,075 (GRCm39) C292S probably damaging Het
Fgfr4 A G 13: 55,306,968 (GRCm39) Y219C probably damaging Het
Frem1 T G 4: 82,912,359 (GRCm39) K670T probably damaging Het
Fsip2 A T 2: 82,809,711 (GRCm39) H2010L probably benign Het
Gas2l2 A T 11: 83,312,816 (GRCm39) L832* probably null Het
Gbe1 A G 16: 70,157,903 (GRCm39) T101A probably benign Het
Gm5114 T A 7: 39,058,180 (GRCm39) I480F probably damaging Het
Gm7145 A T 1: 117,913,842 (GRCm39) R241S probably damaging Het
Gnal G A 18: 67,268,596 (GRCm39) V161I probably benign Het
Gtpbp1 T C 15: 79,575,243 (GRCm39) C46R probably benign Het
Gucy2c A T 6: 136,679,746 (GRCm39) L971Q probably damaging Het
Hsp90b1 T C 10: 86,528,047 (GRCm39) E740G probably damaging Het
Lingo2 G A 4: 35,709,450 (GRCm39) L177F possibly damaging Het
Mfsd6l A G 11: 68,447,874 (GRCm39) T242A possibly damaging Het
Mmadhc C T 2: 50,181,457 (GRCm39) R71K probably damaging Het
Mrm3 G T 11: 76,140,726 (GRCm39) V245L probably damaging Het
Nav3 T A 10: 109,739,619 (GRCm39) I117F probably damaging Het
Noc3l A T 19: 38,783,468 (GRCm39) V636D probably damaging Het
Nwd1 A T 8: 73,438,410 (GRCm39) Q1486L probably damaging Het
Or10aa1 A T 1: 173,870,419 (GRCm39) K301M probably damaging Het
Or2y10 A G 11: 49,455,329 (GRCm39) T194A possibly damaging Het
Or3a10 G T 11: 73,935,726 (GRCm39) R125S possibly damaging Het
Or4c11c T G 2: 88,662,190 (GRCm39) I243R probably damaging Het
Or6c5b C G 10: 129,245,852 (GRCm39) L206V possibly damaging Het
Pax9 T A 12: 56,742,647 (GRCm39) M1K probably null Het
Pcdha1 T C 18: 37,063,702 (GRCm39) V122A probably damaging Het
Pgpep1l A T 7: 67,887,469 (GRCm39) S44T probably damaging Het
Pla2g3 C T 11: 3,443,022 (GRCm39) L452F possibly damaging Het
Plbd2 G A 5: 120,631,214 (GRCm39) R188W probably damaging Het
Ppp1r42 G A 1: 10,039,082 (GRCm39) P346L probably benign Het
Prdm8 T A 5: 98,332,375 (GRCm39) V92D probably damaging Het
Ripor2 C A 13: 24,885,427 (GRCm39) S554* probably null Het
Rps19 T C 7: 24,584,571 (GRCm39) V4A probably damaging Het
Rrm2b T A 15: 37,944,817 (GRCm39) I159F probably benign Het
Rusc1 C A 3: 88,999,057 (GRCm39) G242W probably damaging Het
Sarm1 A G 11: 78,388,083 (GRCm39) S68P possibly damaging Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Slc22a4 A G 11: 53,877,364 (GRCm39) F509S possibly damaging Het
Slc39a12 G A 2: 14,456,811 (GRCm39) A600T probably damaging Het
Spta1 A T 1: 174,050,915 (GRCm39) H1798L probably damaging Het
Sulf2 T G 2: 165,919,536 (GRCm39) D804A possibly damaging Het
Suz12 A T 11: 79,910,529 (GRCm39) E316D probably benign Het
Tecta T C 9: 42,248,628 (GRCm39) T1925A probably damaging Het
Thrap3 A T 4: 126,072,223 (GRCm39) F390I probably damaging Het
Tpr C A 1: 150,269,245 (GRCm39) A70E unknown Het
Trpv4 G C 5: 114,774,520 (GRCm39) P188R probably benign Het
Txlna A C 4: 129,525,953 (GRCm39) L298R probably damaging Het
Ubr4 T C 4: 139,140,749 (GRCm39) S1223P probably benign Het
Ucp1 A T 8: 84,021,881 (GRCm39) T238S probably damaging Het
Ush2a A G 1: 188,147,943 (GRCm39) S957G probably benign Het
Usp34 A G 11: 23,438,868 (GRCm39) N3496D Het
Vmn2r50 T C 7: 9,784,277 (GRCm39) probably null Het
Wdr54 A G 6: 83,131,921 (GRCm39) V130A probably benign Het
Zfp692 A T 11: 58,202,331 (GRCm39) E362V probably damaging Het
Zfp811 A G 17: 33,016,487 (GRCm39) Y518H probably damaging Het
Zfp994 A C 17: 22,419,049 (GRCm39) C633W probably benign 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
R3960:Tbrg4 UTSW 11 6,568,077 (GRCm39) missense probably benign
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
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'- CAGAGTTTCTATGGCAGCCTTCTG -3'
(R):5'- ATTCTATGCAGCCAGGCCTG -3'

Sequencing Primer
(F):5'- CCTTCTGGGCCAGTGCTTG -3'
(R):5'- CCAGGCCTGTGTTGAGTCAG -3'
Posted On 2019-09-13