Incidental Mutation 'R4767:Tbrg4'
ID 366232
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 042408-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.892) question?
Stock # R4767 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 6565598-6576067 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 6570909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 188 (S188A)
Ref Sequence ENSEMBL: ENSMUSP00000123131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000394] [ENSMUST00000156969] [ENSMUST00000150697] [ENSMUST00000189268] [ENSMUST00000136682] [ENSMUST00000144463]
AlphaFold Q91YM4
Predicted Effect probably benign
Transcript: ENSMUST00000000394
AA Change: S188A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000000394
Gene: ENSMUSG00000000384
AA Change: S188A

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: ENSMUST00000156969
AA Change: S188A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114256
Gene: ENSMUSG00000000384
AA Change: S188A

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: ENSMUST00000151008
Predicted Effect probably benign
Transcript: ENSMUST00000150697
AA Change: S188A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123131
Gene: ENSMUSG00000000384
AA Change: S188A

DomainStartEndE-ValueType
low complexity region 41 50 N/A INTRINSIC
SCOP:d1gw5a_ 81 250 6e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189268
AA Change: S188A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140835
Gene: ENSMUSG00000000384
AA Change: S188A

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 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
Meta Mutation Damage Score 0.1038 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 95% (62/65)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T C 11: 46,029,804 (GRCm39) probably null Het
Aig1 T C 10: 13,677,602 (GRCm39) N130S probably damaging Het
Alx1 A T 10: 102,861,047 (GRCm39) Y160* probably null Het
Ap4e1 T C 2: 126,902,358 (GRCm39) I755T probably benign Het
Apoc3 C A 9: 46,145,833 (GRCm39) E21* probably null Het
Atp9b G T 18: 80,796,285 (GRCm39) H919Q probably damaging Het
Cemip T G 7: 83,622,514 (GRCm39) Y555S probably damaging Het
Cic T C 7: 24,971,025 (GRCm39) V252A possibly damaging Het
Cracr2a A T 6: 127,588,470 (GRCm39) N210Y probably damaging Het
Crocc2 G A 1: 93,130,578 (GRCm39) R953Q possibly damaging Het
Csnk1d A G 11: 120,859,954 (GRCm39) S318P probably benign Het
Ddx21 A G 10: 62,427,751 (GRCm39) L384P probably damaging Het
Dnah5 C T 15: 28,270,620 (GRCm39) T974I probably benign Het
Duox1 A G 2: 122,163,922 (GRCm39) Y863C possibly damaging Het
Epg5 C A 18: 78,066,498 (GRCm39) P2133T possibly damaging Het
Ephb6 A T 6: 41,591,119 (GRCm39) Q92L possibly damaging Het
Ercc4 C A 16: 12,939,959 (GRCm39) A73D probably damaging Het
Eva1c A T 16: 90,701,235 (GRCm39) Y290F probably damaging Het
Galnt5 T A 2: 57,918,156 (GRCm39) V798E possibly damaging Het
Haus4 T C 14: 54,786,342 (GRCm39) E149G probably damaging Het
Ighv1-13 A G 12: 114,594,556 (GRCm39) Y86C unknown Het
Igkv9-120 G T 6: 68,027,351 (GRCm39) R88S possibly damaging Het
Lama3 T C 18: 12,633,620 (GRCm39) V1584A probably benign Het
Lamb1 A G 12: 31,358,010 (GRCm39) E1119G probably damaging Het
Lao1 T C 4: 118,825,185 (GRCm39) L335P probably damaging Het
Mindy4 A G 6: 55,237,550 (GRCm39) D375G probably damaging Het
Myo5a T C 9: 75,051,358 (GRCm39) I317T probably damaging Het
Nhlrc2 G A 19: 56,558,898 (GRCm39) V128I probably benign Het
Nlrp2 C T 7: 5,331,023 (GRCm39) D458N probably damaging Het
Or1j18 A T 2: 36,624,335 (GRCm39) M1L probably benign Het
Or1o1 T A 17: 37,717,091 (GRCm39) C217* probably null Het
Or5a1 G T 19: 12,097,300 (GRCm39) H247N probably damaging Het
Or8g24 T C 9: 38,989,988 (GRCm39) T18A possibly damaging Het
Or9q2 A T 19: 13,772,409 (GRCm39) C189S probably damaging Het
Parp8 T C 13: 117,005,072 (GRCm39) H663R probably damaging Het
Pax6 T C 2: 105,525,705 (GRCm39) S377P probably benign Het
Pi15 A G 1: 17,672,990 (GRCm39) D63G probably benign Het
Plaa A G 4: 94,474,495 (GRCm39) probably benign Het
Rbm5 C A 9: 107,622,412 (GRCm39) W546C probably damaging Het
Rnf123 C A 9: 107,929,288 (GRCm39) C1257F probably damaging Het
Rnf185 A G 11: 3,382,551 (GRCm39) S45P possibly damaging Het
Sh3bp1 T C 15: 78,788,697 (GRCm39) S241P possibly damaging Het
Slfn8 G A 11: 82,894,023 (GRCm39) A872V possibly damaging Het
Smoc1 G A 12: 81,151,547 (GRCm39) probably null Het
Sox14 A T 9: 99,757,686 (GRCm39) W18R probably damaging Het
Spata31d1a T C 13: 59,848,969 (GRCm39) E1053G probably benign Het
Syne1 T A 10: 5,294,866 (GRCm39) K1246* probably null Het
Thnsl2 A T 6: 71,111,279 (GRCm39) D196E probably damaging Het
Tmem266 C T 9: 55,288,025 (GRCm39) T34I probably damaging Het
Tmem59l C A 8: 70,938,748 (GRCm39) R111L probably benign Het
Tpr T C 1: 150,306,280 (GRCm39) probably benign Het
Trpc6 T C 9: 8,643,687 (GRCm39) S491P probably damaging Het
Tspan10 A T 11: 120,336,992 (GRCm39) N254I probably damaging Het
Ubox5 A T 2: 130,433,814 (GRCm39) L511Q probably damaging Het
Vmn1r183 TATCCATC TATC 7: 23,754,531 (GRCm39) probably null Het
Vmn2r4 C T 3: 64,298,397 (GRCm39) C577Y probably damaging Het
Vmn2r86 A T 10: 130,291,606 (GRCm39) M53K probably benign Het
Zfp948 T A 17: 21,808,569 (GRCm39) I587N possibly damaging 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
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'- AAGTCCCAGGAGGTCTGTTC -3'
(R):5'- CACATTTGGAACTGGCTTTGTG -3'

Sequencing Primer
(F):5'- AGGAGGTCTGTTCTCAGCC -3'
(R):5'- AACTGGCTTTGTGTCGGC -3'
Posted On 2015-12-21