Incidental Mutation 'PIT4449001:Tbrg4'
ID555741
Institutional Source Beutler Lab
Gene Symbol Tbrg4
Ensembl Gene ENSMUSG00000000384
Gene Nametransforming growth factor beta regulated gene 4
Synonyms2310042P22Rik, TB-12, Cpr2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.883) question?
Stock #PIT4449001 (G1)
Quality Score220.009
Status Not validated
Chromosome11
Chromosomal Location6615598-6626067 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 6619689 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 309 (Q309R)
Ref Sequence ENSEMBL: ENSMUSP00000000394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000394] [ENSMUST00000136682] [ENSMUST00000144463] [ENSMUST00000150697] [ENSMUST00000156969] [ENSMUST00000189268]
Predicted Effect probably damaging
Transcript: ENSMUST00000000394
AA Change: Q309R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000394
Gene: ENSMUSG00000000384
AA Change: Q309R

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 probably damaging
Transcript: ENSMUST00000150697
AA Change: Q309R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123131
Gene: ENSMUSG00000000384
AA Change: Q309R

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
SCOP:d1gw5a_ 81 250 6e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000156969
AA Change: Q309R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114256
Gene: ENSMUSG00000000384
AA Change: Q309R

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 damaging
Transcript: ENSMUST00000189268
AA Change: Q309R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140835
Gene: ENSMUSG00000000384
AA Change: Q309R

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: 93.3%
  • 3x: 90.8%
  • 10x: 84.7%
  • 20x: 71.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asf1b A G 8: 83,967,982 N125S probably benign Het
BC048671 T A 6: 90,305,163 L101I probably damaging Het
Camta1 A G 4: 151,131,586 L959P probably benign Het
Cfh C A 1: 140,112,565 V598F probably damaging Het
Cyp2j7 G T 4: 96,215,338 T320K probably damaging Het
Ddr1 A G 17: 35,687,249 I468T possibly damaging Het
Dhx15 A G 5: 52,160,958 V510A probably damaging Het
Dpp4 T A 2: 62,356,644 K507N probably benign Het
Evpl G A 11: 116,233,399 T198M possibly damaging Het
Gabbr1 G A 17: 37,056,350 V373I probably damaging Het
Gak A T 5: 108,580,925 S1049T probably benign Het
Gipr C T 7: 19,160,618 R253H probably benign Het
Gm3685 T A 14: 7,043,960 M73L probably benign Het
Gm5168 C T X: 26,039,540 R129Q probably null Het
Kcnh1 T A 1: 192,418,684 V555D probably damaging Het
Kif26b T C 1: 178,918,086 S1916P probably damaging Het
Lingo4 T C 3: 94,401,932 V59A probably benign Het
Maats1 T C 16: 38,328,358 E236G probably damaging Het
Mroh8 T A 2: 157,225,534 Q635L probably damaging Het
Msh6 T A 17: 87,986,188 D790E probably damaging Het
Nrxn1 A T 17: 90,597,579 W809R probably damaging Het
Olfr201 C A 16: 59,269,130 C179F probably damaging Het
Polr3d T C 14: 70,439,463 H397R probably benign Het
Pwp2 G A 10: 78,178,470 T432I probably benign Het
Rad21 G C 15: 51,973,243 F177L probably benign Het
Rnf182 G A 13: 43,668,677 V235I probably benign Het
Scn11a C T 9: 119,769,948 C1172Y probably damaging Het
Sh2b3 A G 5: 121,828,679 L124P possibly damaging Het
Six2 T C 17: 85,685,478 N199S probably benign Het
Slc5a3 A G 16: 92,077,814 D253G probably benign Het
Synm A G 7: 67,735,277 M879T probably benign Het
Tasp1 A G 2: 139,910,535 I328T possibly damaging Het
Tcrg-C3 A T 13: 19,263,362 R162* probably null Het
Tmtc2 A G 10: 105,303,604 L687P probably damaging Het
Tufm T C 7: 126,487,449 M1T probably null Het
Vmn2r116 A C 17: 23,388,947 L496F probably benign Het
Vmn2r75 C T 7: 86,165,583 C234Y probably damaging Het
Wars2 G T 3: 99,205,279 V162L possibly damaging Het
Zc3h11a A T 1: 133,624,611 V586D probably benign Het
Zdhhc5 A T 2: 84,690,227 N535K probably damaging Het
Zfp52 T C 17: 21,557,216 Y38H probably damaging Het
Zfp729b T C 13: 67,591,423 M908V probably benign Het
Zfp772 T C 7: 7,204,351 I114V probably benign Het
Other mutations in Tbrg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Tbrg4 APN 11 6618522 missense possibly damaging 0.94
IGL02225:Tbrg4 APN 11 6624094 missense probably damaging 0.97
IGL02332:Tbrg4 APN 11 6618492 missense probably damaging 0.98
PIT4453001:Tbrg4 UTSW 11 6620857 missense probably damaging 1.00
R0412:Tbrg4 UTSW 11 6623832 missense probably benign
R0732:Tbrg4 UTSW 11 6620812 missense probably benign 0.19
R0943:Tbrg4 UTSW 11 6619008 missense probably damaging 1.00
R3960:Tbrg4 UTSW 11 6618077 missense probably benign
R4618:Tbrg4 UTSW 11 6620185 intron probably benign
R4686:Tbrg4 UTSW 11 6618468 missense probably benign 0.00
R4767:Tbrg4 UTSW 11 6620909 missense probably benign 0.00
R5240:Tbrg4 UTSW 11 6617516 critical splice donor site probably null
R5457:Tbrg4 UTSW 11 6620947 missense probably damaging 1.00
R5898:Tbrg4 UTSW 11 6617372 missense probably damaging 0.98
R7173:Tbrg4 UTSW 11 6620810 missense possibly damaging 0.80
R7343:Tbrg4 UTSW 11 6620065 missense probably benign 0.28
R8017:Tbrg4 UTSW 11 6618517 missense probably damaging 0.99
R8019:Tbrg4 UTSW 11 6618517 missense probably damaging 0.99
X0013:Tbrg4 UTSW 11 6617540 missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- ACGGAGGCCTCTACAGATAACC -3'
(R):5'- TCTCCTAATGATGGCAAGCAC -3'

Sequencing Primer
(F):5'- GCCTCTACAGATAACCCTGCGG -3'
(R):5'- TAGAAACTCTGTGACTCCTGAGC -3'
Posted On2019-06-07