Incidental Mutation 'IGL02225:Tbrg4'
ID 285300
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02225
Quality Score
Status
Chromosome 11
Chromosomal Location 6565598-6576067 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6574094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 43 (V43F)
Ref Sequence ENSEMBL: ENSMUSP00000114174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000394] [ENSMUST00000150697] [ENSMUST00000156969] [ENSMUST00000144463] [ENSMUST00000189268] [ENSMUST00000136682]
AlphaFold Q91YM4
Predicted Effect possibly damaging
Transcript: ENSMUST00000000394
AA Change: V43F

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000000394
Gene: ENSMUSG00000000384
AA Change: V43F

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 possibly damaging
Transcript: ENSMUST00000150697
AA Change: V43F

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123131
Gene: ENSMUSG00000000384
AA Change: V43F

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
SCOP:d1gw5a_ 81 250 6e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000156969
AA Change: V43F

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114256
Gene: ENSMUSG00000000384
AA Change: V43F

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 possibly damaging
Transcript: ENSMUST00000144463
AA Change: V43F

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120103
Gene: ENSMUSG00000000384
AA Change: V43F

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000189268
AA Change: V43F

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140835
Gene: ENSMUSG00000000384
AA Change: V43F

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: ENSMUST00000136682
AA Change: V43F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114174
Gene: ENSMUSG00000000384
AA Change: V43F

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132446
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 43,906,165 (GRCm39) probably null Het
Adgrf4 C A 17: 42,974,269 (GRCm39) probably null Het
Aqp9 A T 9: 71,037,829 (GRCm39) probably benign Het
C1s1 A G 6: 124,518,293 (GRCm39) W8R probably benign Het
Cep43 T G 17: 8,401,251 (GRCm39) D257E probably damaging Het
Cfap43 A G 19: 47,800,616 (GRCm39) I345T probably benign Het
Cwh43 T C 5: 73,578,910 (GRCm39) Y306H probably damaging Het
Cyp4a32 A T 4: 115,467,700 (GRCm39) H228L probably benign Het
Ddx24 A G 12: 103,383,630 (GRCm39) L607P probably damaging Het
Dlg3 A G X: 99,850,794 (GRCm39) K232R probably benign Het
Fig4 A G 10: 41,132,448 (GRCm39) S453P probably benign Het
Frem1 A G 4: 82,858,743 (GRCm39) L1556P probably damaging Het
Gjb2 T C 14: 57,337,645 (GRCm39) K188E probably damaging Het
Gp1bb C A 16: 18,439,650 (GRCm39) W148L possibly damaging Het
Grip1 C T 10: 119,885,358 (GRCm39) T375M probably damaging Het
Hnf1b T C 11: 83,752,611 (GRCm39) L82P probably damaging Het
Jakmip1 T C 5: 37,262,200 (GRCm39) V333A probably damaging Het
Magi1 G T 6: 93,671,007 (GRCm39) R1069S probably damaging Het
Myh15 A T 16: 48,911,526 (GRCm39) E319D probably benign Het
Myl4 A G 11: 104,471,228 (GRCm39) I42V probably benign Het
Obsl1 A T 1: 75,480,442 (GRCm39) V394E probably damaging Het
Or1e1c T A 11: 73,265,904 (GRCm39) F110I probably damaging Het
Or52ab7 A T 7: 102,978,373 (GRCm39) I227F probably damaging Het
Or5w14 C T 2: 87,541,743 (GRCm39) C169Y possibly damaging Het
Pcnt C T 10: 76,225,308 (GRCm39) R1732K probably benign Het
Pkd1l3 T C 8: 110,365,310 (GRCm39) Y1144H probably damaging Het
Pogz A G 3: 94,786,327 (GRCm39) K972E probably damaging Het
Sccpdh A G 1: 179,507,264 (GRCm39) T227A probably benign Het
Sec16b A G 1: 157,359,614 (GRCm39) probably benign Het
Slain2 T A 5: 73,098,733 (GRCm39) V163E probably damaging Het
Snx1 G A 9: 66,016,903 (GRCm39) P56L probably benign Het
Snx14 G A 9: 88,295,577 (GRCm39) T196I probably damaging Het
Sspo T C 6: 48,461,268 (GRCm39) F3570L probably benign Het
Traf3ip3 A G 1: 192,877,408 (GRCm39) I176T probably benign Het
Trbv20 T A 6: 41,165,241 (GRCm39) probably benign Het
Ubc A T 5: 125,463,197 (GRCm39) V710D probably benign Het
Ugt2b35 T C 5: 87,155,264 (GRCm39) probably benign Het
Zbed5 C T 5: 129,930,974 (GRCm39) probably null Het
Zc3hav1 T C 6: 38,317,276 (GRCm39) Y108C probably damaging Het
Other mutations in Tbrg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Tbrg4 APN 11 6,568,522 (GRCm39) missense possibly damaging 0.94
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
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
Posted On 2015-04-16