Mutagenetix > Incidental Mutation

Incidental Mutation 'RF054:Tob1'

605211

Institutional Source

Beutler Lab

Gene Symbol

Tob1

Ensembl Gene

ENSMUSG00000037573

Gene Name

transducer of ErbB-2.1

Synonyms

Trob, Tob

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF054 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

94211454-94215495 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GCA to GCACCA at 94214461 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036039 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041589]

AlphaFold

Q61471

Predicted Effect

probably benign
Transcript: ENSMUST00000041589

SMART Domains

Protein: ENSMUSP00000036039
Gene: ENSMUSG00000037573

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

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: 24 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
Ankhd1	CGGC	CGGCGGAGGC	18: 36,560,929	probably benign	Het
Bean1	CT	C	8: 104,182,032	probably null	Het
Cep131	CTGTTGTT	CTGTTGTTGTT	11: 120,072,968	probably benign	Het
Chga	AGC	AGCTGC	12: 102,561,423	probably benign	Het
Dmkn	GAAGTGGTGGAAGTGGTGG	GAAGTGGTGGAAGTGGTGGAAGTGGTGTAAGTGGTGGAAGTGGTGG	7: 30,767,188	probably benign	Het
Dnmt1	CCTCGTT	CCTCGTTTTGGGGGCGGAGCACAGTTCCTAGCTCGTT	9: 20,910,139	probably null	Het
Epha8	CCTGGGC	CC	4: 136,933,037	probably benign	Het
F830016B08Rik	AAAAAA	AAAAAAAAA	18: 60,299,938	probably benign	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416	probably benign	Het
Gm8369	GTGT	GTGTCTGT	19: 11,511,764	probably null	Het
Lce1m	CAC	CACCGCTGCGGCGAC	3: 93,018,298	probably benign	Het
Lrmp	ATTG	ATTGAGCACTTTG	6: 145,173,788	probably benign	Het
Lypd8	TC	TCGCCTCTGTTACCCCACAAATCACCAACACCTCCCCC	11: 58,390,251	probably benign	Het
Nefh	GGGACT	GGGACTGGGCCTCACCTGCGGACT	11: 4,941,048	probably benign	Het
Prp2	CTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCT	C	6: 132,600,521	probably null	Het
Rassf6	TCACTCATGGTCCTGTAGAGCAATGGGGATTC	TCACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCCCACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,608,911	probably benign	Het
Rassf6	TGTAGAGCAATGGGGATTC	TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC	5: 90,608,924	probably benign	Het
Rassf6	CAATGGGGATTC	CAATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGAAATGGGGATTC	5: 90,608,931	probably benign	Het
Sbp	GATGCTGACAACAAA	GATGCTGACAACAAATATGCTGACAACAAA	17: 23,945,371	probably benign	Het
Six3	GCG	GCGCCG	17: 85,621,355	probably benign	Het
Tfeb	CAG	CAGTAG	17: 47,786,098	probably null	Het
Thbs1	TGACCTTAG	TG	2: 118,122,865	probably benign	Het
Ubqln3	AACAC	A	7: 104,141,178	probably null	Het
Zfhx3	AACAGCAGC	AACAGCAGCCACAGCAGC	8: 108,956,096	probably benign	Het

Other mutations in Tob1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Tob1	APN	11	94214055	missense	probably damaging	1.00
IGL02028:Tob1	APN	11	94214226	missense	probably benign	0.43
IGL02866:Tob1	APN	11	94214057	missense	possibly damaging	0.87
FR4304:Tob1	UTSW	11	94214464	small insertion	probably benign
FR4304:Tob1	UTSW	11	94214477	nonsense	probably null
FR4340:Tob1	UTSW	11	94214454	small insertion	probably benign
FR4340:Tob1	UTSW	11	94214460	small insertion	probably benign
FR4340:Tob1	UTSW	11	94214477	small insertion	probably benign
FR4342:Tob1	UTSW	11	94214472	small insertion	probably benign
FR4449:Tob1	UTSW	11	94214468	small insertion	probably benign
FR4449:Tob1	UTSW	11	94214475	small insertion	probably benign
FR4548:Tob1	UTSW	11	94214455	small insertion	probably benign
FR4548:Tob1	UTSW	11	94214469	small insertion	probably benign
FR4589:Tob1	UTSW	11	94214451	small insertion	probably benign
FR4589:Tob1	UTSW	11	94214477	frame shift	probably null
FR4737:Tob1	UTSW	11	94214451	small insertion	probably benign
FR4737:Tob1	UTSW	11	94214464	small insertion	probably benign
FR4737:Tob1	UTSW	11	94214478	small insertion	probably benign
FR4976:Tob1	UTSW	11	94214472	small insertion	probably benign
R0142:Tob1	UTSW	11	94214597	missense	probably damaging	1.00
R1777:Tob1	UTSW	11	94213754	missense	probably damaging	1.00
R4213:Tob1	UTSW	11	94214192	missense	probably damaging	1.00
R4280:Tob1	UTSW	11	94214322	missense	probably benign
R4537:Tob1	UTSW	11	94214452	small deletion	probably benign
R4899:Tob1	UTSW	11	94214452	small deletion	probably benign
R5074:Tob1	UTSW	11	94213741	missense	possibly damaging	0.88
R5502:Tob1	UTSW	11	94214452	small deletion	probably benign
R5828:Tob1	UTSW	11	94213757	missense	probably damaging	1.00
R5828:Tob1	UTSW	11	94213759	nonsense	probably null
R7471:Tob1	UTSW	11	94213882	missense	probably benign	0.45
R7839:Tob1	UTSW	11	94213772	missense	probably damaging	1.00
R8383:Tob1	UTSW	11	94214377	small deletion	probably benign
R8491:Tob1	UTSW	11	94214289	missense	probably benign	0.11
R9131:Tob1	UTSW	11	94214377	small deletion	probably benign
R9521:Tob1	UTSW	11	94214379	small deletion	probably benign
R9542:Tob1	UTSW	11	94214408	missense	unknown
R9729:Tob1	UTSW	11	94214054	missense	probably damaging	1.00
R9744:Tob1	UTSW	11	94214228	missense	probably damaging	0.99
RF028:Tob1	UTSW	11	94214451	small insertion	probably benign
RF041:Tob1	UTSW	11	94214451	small insertion	probably benign
RF042:Tob1	UTSW	11	94214451	small insertion	probably benign
RF044:Tob1	UTSW	11	94214461	small insertion	probably benign
Z1177:Tob1	UTSW	11	94213992	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- ACTTCTCCGATCAACCTGGG -3'
(R):5'- AAGACTTCTCGTTGAGGCCTC -3'

Sequencing Primer
(F):5'- TCAACCTGGGCCTGACTGTAAATG -3'
(R):5'- TCTCGTTGAGGCCTCCGTAG -3'

Posted On

2019-12-04