Incidental Mutation 'R0412:Tbrg4'
ID36726
Institutional Source Beutler Lab
Gene Symbol Tbrg4
Ensembl Gene ENSMUSG00000000384
Gene Nametransforming growth factor beta regulated gene 4
Synonyms2310042P22Rik, TB-12, Cpr2
MMRRC Submission 038614-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.870) question?
Stock #R0412 (G1)
Quality Score129
Status Validated
Chromosome11
Chromosomal Location6615598-6626067 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 6623832 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 130 (K130R)
Ref Sequence ENSEMBL: ENSMUSP00000140835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000394] [ENSMUST00000136682] [ENSMUST00000144463] [ENSMUST00000150697] [ENSMUST00000189268] [ENSMUST00000156969]
Predicted Effect probably benign
Transcript: ENSMUST00000000394
AA Change: K130R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000394
Gene: ENSMUSG00000000384
AA Change: K130R

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: ENSMUST00000131815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132446
Predicted Effect probably benign
Transcript: ENSMUST00000136682
AA Change: K130R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114174
Gene: ENSMUSG00000000384
AA Change: K130R

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 benign
Transcript: ENSMUST00000150697
AA Change: K130R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123131
Gene: ENSMUSG00000000384
AA Change: K130R

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
SCOP:d1gw5a_ 81 250 6e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151008
Predicted Effect probably benign
Transcript: ENSMUST00000189268
AA Change: K130R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140835
Gene: ENSMUSG00000000384
AA Change: K130R

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: ENSMUST00000156969
AA Change: K130R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114256
Gene: ENSMUSG00000000384
AA Change: K130R

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.2%
Validation Efficiency 94% (67/71)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932431P20Rik C G 7: 29,530,570 noncoding transcript Het
Arap1 C A 7: 101,390,222 A563D probably damaging Het
Arhgap28 G A 17: 67,896,258 L67F probably damaging Het
Atp7b G T 8: 21,995,659 probably null Het
Auts2 A G 5: 131,446,831 F485L probably benign Het
Ccdc68 A G 18: 69,960,439 E239G probably damaging Het
Cdc42bpg T G 19: 6,313,457 L449R probably damaging Het
Colgalt2 G T 1: 152,508,561 A551S possibly damaging Het
Ddx41 G T 13: 55,530,608 S630Y probably damaging Het
Dntt T C 19: 41,042,933 L274P probably damaging Het
Fhl4 G T 10: 85,098,816 H34N possibly damaging Het
Filip1 A T 9: 79,820,289 N349K possibly damaging Het
Gm9894 C T 13: 67,765,026 noncoding transcript Het
Gpr179 A G 11: 97,338,807 S841P probably damaging Het
Gpr35 G T 1: 92,982,784 V73L probably benign Het
Grik5 A G 7: 25,013,674 V809A possibly damaging Het
H2-Bl T A 17: 36,081,521 probably benign Het
Heatr5b T C 17: 78,820,854 T451A probably benign Het
Hmcn2 G A 2: 31,388,247 V1654M probably damaging Het
Htra3 G T 5: 35,671,065 A157E probably damaging Het
Igf2r A T 17: 12,683,948 V2405D probably damaging Het
Irs3 C A 5: 137,643,877 R433L probably benign Het
Kcmf1 G A 6: 72,848,241 Q239* probably null Het
Kcnk9 A G 15: 72,513,056 probably benign Het
Kif28 A G 1: 179,702,526 V622A probably benign Het
Klrb1f A T 6: 129,054,331 I164F probably benign Het
Lama2 A G 10: 27,190,625 S1087P possibly damaging Het
Mchr1 A T 15: 81,235,747 probably benign Het
Mcidas A G 13: 112,999,143 T367A probably damaging Het
Mphosph8 A C 14: 56,674,413 K298Q probably damaging Het
Mroh2a G T 1: 88,235,216 Q360H probably benign Het
Mst1 A C 9: 108,083,594 D461A probably benign Het
Nckap1l A T 15: 103,464,652 S311C probably benign Het
Olfr1036 C T 2: 86,075,091 A117V probably benign Het
Olfr1233 T A 2: 89,340,078 M75L probably benign Het
Olfr1385 T A 11: 49,494,767 V78E probably damaging Het
Olfr251 A C 9: 38,378,794 K298N probably damaging Het
Pde3a T G 6: 141,498,684 C1073G probably damaging Het
Pkhd1 T C 1: 20,117,788 D3432G probably damaging Het
Ppargc1b G T 18: 61,315,861 P130Q probably damaging Het
Ppp6r1 A G 7: 4,642,214 I228T probably damaging Het
Pram1 A G 17: 33,641,506 N349S probably benign Het
Ranbp6 C T 19: 29,812,083 V290I possibly damaging Het
Rcan3 A T 4: 135,416,603 probably null Het
Scn8a G C 15: 101,008,306 probably benign Het
Slc12a5 C T 2: 164,994,062 T900M probably benign Het
Srsf10 A G 4: 135,858,403 Y55C probably damaging Het
Syt7 G T 19: 10,444,080 E450* probably null Het
Tgm7 C A 2: 121,101,065 V206F probably damaging Het
Tmem131l T C 3: 84,031,648 D67G probably damaging Het
Ttc7 A G 17: 87,330,044 K409R probably benign Het
Unc80 A T 1: 66,550,937 probably benign Het
Vmn1r171 C T 7: 23,632,655 L102F possibly damaging Het
Vmn2r59 A C 7: 42,046,492 probably benign Het
Vsig2 A G 9: 37,542,690 R191G probably damaging Het
Wdr86 T A 5: 24,718,234 Q153H probably benign Het
Xxylt1 T A 16: 31,007,798 N233I probably damaging Het
Zfp160 A T 17: 21,026,877 E563V probably damaging Het
Zfp345 T A 2: 150,473,403 E71D probably benign Het
Zfp541 A G 7: 16,082,174 D862G possibly damaging Het
Zfp639 A C 3: 32,517,110 Q47P possibly damaging 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
PIT4449001:Tbrg4 UTSW 11 6619689 missense probably damaging 1.00
PIT4453001:Tbrg4 UTSW 11 6620857 missense probably damaging 1.00
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'- TGGGCTGCTTGTCTCTGAAGTACC -3'
(R):5'- TCCTCATTGAGAAAGCCTCCAGACC -3'

Sequencing Primer
(F):5'- acacacacacacacacacac -3'
(R):5'- GCCTCCAGACCAGAGCAG -3'
Posted On2013-05-09