Incidental Mutation 'R5828:Tob1'
ID 450280
Institutional Source Beutler Lab
Gene Symbol Tob1
Ensembl Gene ENSMUSG00000037573
Gene Name transducer of ErbB-2.1
Synonyms Tob, Trob
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5828 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 94102280-94106321 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94104583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 40 (Y40N)
Ref Sequence ENSEMBL: ENSMUSP00000036039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041589]
AlphaFold Q61471
Predicted Effect probably damaging
Transcript: ENSMUST00000041589
AA Change: Y40N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036039
Gene: ENSMUSG00000037573
AA Change: Y40N

DomainStartEndE-ValueType
btg1 1 106 2.41e-77 SMART
low complexity region 141 160 N/A INTRINSIC
low complexity region 176 187 N/A INTRINSIC
low complexity region 238 280 N/A INTRINSIC
Meta Mutation Damage Score 0.8730 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transducer of erbB-2 /B-cell translocation gene protein family. Members of this family are anti-proliferative factors that have the potential to regulate cell growth. The encoded protein may function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice are viable and exhibit increased bone mass due to increased osteoblast proliferation and differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,432,144 (GRCm39) D95G unknown Het
Arl10 T A 13: 54,726,768 (GRCm39) V182E probably damaging Het
Cacna1g T G 11: 94,347,980 (GRCm39) S703R probably damaging Het
Ces2a C A 8: 105,465,956 (GRCm39) T363N probably benign Het
Col14a1 G A 15: 55,300,372 (GRCm39) V967I unknown Het
Col22a1 A T 15: 71,881,340 (GRCm39) F4I probably benign Het
D630045J12Rik A G 6: 38,173,302 (GRCm39) W289R possibly damaging Het
Disc1 A G 8: 125,977,763 (GRCm39) Q793R probably damaging Het
Dnhd1 C T 7: 105,369,388 (GRCm39) T4337I probably benign Het
Eif2b5 T A 16: 20,321,536 (GRCm39) V363D possibly damaging Het
Emsy T C 7: 98,242,699 (GRCm39) T1147A probably benign Het
Epg5 T A 18: 78,064,066 (GRCm39) Y2048N probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Foxred1 A G 9: 35,121,492 (GRCm39) probably benign Het
Gpaa1 T C 15: 76,216,471 (GRCm39) probably benign Het
Gria4 A C 9: 4,432,832 (GRCm39) L784V probably damaging Het
Homer3 A G 8: 70,738,956 (GRCm39) Y105C probably benign Het
Hpgd T C 8: 56,772,106 (GRCm39) S193P probably benign Het
Irf1 T A 11: 53,666,762 (GRCm39) W247R probably benign Het
Lpgat1 A G 1: 191,508,494 (GRCm39) Q344R possibly damaging Het
Luzp1 T C 4: 136,267,993 (GRCm39) V72A probably damaging Het
Malrd1 G A 2: 15,531,464 (GRCm39) V8M probably benign Het
Msmo1 T C 8: 65,172,144 (GRCm39) H253R probably damaging Het
Nom1 A G 5: 29,640,124 (GRCm39) K150R possibly damaging Het
Onecut1 A G 9: 74,770,042 (GRCm39) E155G probably benign Het
Or12k7 A G 2: 36,959,001 (GRCm39) H228R probably benign Het
Or14c46 T A 7: 85,918,728 (GRCm39) M90L probably benign Het
Or5p59 T C 7: 107,703,005 (GRCm39) V163A possibly damaging Het
Osbpl10 G A 9: 114,890,944 (GRCm39) V111M probably damaging Het
Pcdhgb6 T C 18: 37,877,457 (GRCm39) S722P probably benign Het
Plin4 T A 17: 56,414,064 (GRCm39) D187V probably damaging Het
Pmf1 T C 3: 88,303,294 (GRCm39) E89G possibly damaging Het
Polr1d A T 5: 147,014,408 (GRCm39) probably benign Het
Ppp1r9a T C 6: 5,158,200 (GRCm39) Y1006H probably damaging Het
Ppp2r5c A G 12: 110,537,134 (GRCm39) K420E probably benign Het
Prdx1 T C 4: 116,551,006 (GRCm39) L159P probably damaging Het
Psmd6 G T 14: 14,119,990 (GRCm38) D39E probably benign Het
Rffl T C 11: 82,709,244 (GRCm39) K60E probably damaging Het
Rspo2 A T 15: 42,939,283 (GRCm39) L169Q probably damaging Het
Sbf1 T A 15: 89,172,837 (GRCm39) D1892V probably damaging Het
Sbno2 G A 10: 79,902,424 (GRCm39) S475F possibly damaging Het
Serpina3i T A 12: 104,231,474 (GRCm39) V37E probably benign Het
Siglecf G A 7: 43,001,137 (GRCm39) C35Y probably damaging Het
Slc22a27 G T 19: 7,903,767 (GRCm39) D123E probably damaging Het
Smim23 T A 11: 32,770,592 (GRCm39) K105* probably null Het
Soat1 C T 1: 156,265,318 (GRCm39) S348N probably benign Het
Sp2 C T 11: 96,851,811 (GRCm39) probably benign Het
St14 T A 9: 31,002,803 (GRCm39) H700L probably damaging Het
St3gal1 T A 15: 66,985,634 (GRCm39) K7* probably null Het
Tgm1 T C 14: 55,943,011 (GRCm39) K610E probably benign Het
Trpc4ap A G 2: 155,477,130 (GRCm39) probably benign Het
Ttc9 C T 12: 81,678,450 (GRCm39) P91L probably benign Het
Zbtb18 T C 1: 177,275,446 (GRCm39) S269P probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfyve16 A T 13: 92,650,410 (GRCm39) V858E probably damaging Het
Other mutations in Tob1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Tob1 APN 11 94,104,881 (GRCm39) missense probably damaging 1.00
IGL02028:Tob1 APN 11 94,105,052 (GRCm39) missense probably benign 0.43
IGL02866:Tob1 APN 11 94,104,883 (GRCm39) missense possibly damaging 0.87
FR4304:Tob1 UTSW 11 94,105,303 (GRCm39) nonsense probably null
FR4304:Tob1 UTSW 11 94,105,290 (GRCm39) small insertion probably benign
FR4340:Tob1 UTSW 11 94,105,303 (GRCm39) small insertion probably benign
FR4340:Tob1 UTSW 11 94,105,280 (GRCm39) small insertion probably benign
FR4340:Tob1 UTSW 11 94,105,286 (GRCm39) small insertion probably benign
FR4342:Tob1 UTSW 11 94,105,298 (GRCm39) small insertion probably benign
FR4449:Tob1 UTSW 11 94,105,301 (GRCm39) small insertion probably benign
FR4449:Tob1 UTSW 11 94,105,294 (GRCm39) small insertion probably benign
FR4548:Tob1 UTSW 11 94,105,295 (GRCm39) small insertion probably benign
FR4548:Tob1 UTSW 11 94,105,281 (GRCm39) small insertion probably benign
FR4589:Tob1 UTSW 11 94,105,303 (GRCm39) frame shift probably null
FR4589:Tob1 UTSW 11 94,105,277 (GRCm39) small insertion probably benign
FR4737:Tob1 UTSW 11 94,105,277 (GRCm39) small insertion probably benign
FR4737:Tob1 UTSW 11 94,105,290 (GRCm39) small insertion probably benign
FR4737:Tob1 UTSW 11 94,105,304 (GRCm39) small insertion probably benign
FR4976:Tob1 UTSW 11 94,105,298 (GRCm39) small insertion probably benign
R0142:Tob1 UTSW 11 94,105,423 (GRCm39) missense probably damaging 1.00
R1777:Tob1 UTSW 11 94,104,580 (GRCm39) missense probably damaging 1.00
R4213:Tob1 UTSW 11 94,105,018 (GRCm39) missense probably damaging 1.00
R4280:Tob1 UTSW 11 94,105,148 (GRCm39) missense probably benign
R4537:Tob1 UTSW 11 94,105,278 (GRCm39) small deletion probably benign
R4899:Tob1 UTSW 11 94,105,278 (GRCm39) small deletion probably benign
R5074:Tob1 UTSW 11 94,104,567 (GRCm39) missense possibly damaging 0.88
R5502:Tob1 UTSW 11 94,105,278 (GRCm39) small deletion probably benign
R5828:Tob1 UTSW 11 94,104,585 (GRCm39) nonsense probably null
R7471:Tob1 UTSW 11 94,104,708 (GRCm39) missense probably benign 0.45
R7839:Tob1 UTSW 11 94,104,598 (GRCm39) missense probably damaging 1.00
R8383:Tob1 UTSW 11 94,105,203 (GRCm39) small deletion probably benign
R8491:Tob1 UTSW 11 94,105,115 (GRCm39) missense probably benign 0.11
R9131:Tob1 UTSW 11 94,105,203 (GRCm39) small deletion probably benign
R9521:Tob1 UTSW 11 94,105,205 (GRCm39) small deletion probably benign
R9542:Tob1 UTSW 11 94,105,234 (GRCm39) missense unknown
R9729:Tob1 UTSW 11 94,104,880 (GRCm39) missense probably damaging 1.00
R9744:Tob1 UTSW 11 94,105,054 (GRCm39) missense probably damaging 0.99
RF028:Tob1 UTSW 11 94,105,277 (GRCm39) small insertion probably benign
RF041:Tob1 UTSW 11 94,105,277 (GRCm39) small insertion probably benign
RF042:Tob1 UTSW 11 94,105,277 (GRCm39) small insertion probably benign
RF044:Tob1 UTSW 11 94,105,287 (GRCm39) small insertion probably benign
RF054:Tob1 UTSW 11 94,105,287 (GRCm39) small insertion probably benign
Z1177:Tob1 UTSW 11 94,104,818 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- GAATTTGTTTCTCTGCCACAAACTG -3'
(R):5'- TCGCCGATCTGGTAGGAAAC -3'

Sequencing Primer
(F):5'- tCTGGTGGAGGAGTTGAA -3'
(R):5'- TAGGAAACCTCAAACGGGTCGATC -3'
Posted On 2016-12-20