Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02866:Tob1'

362348

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02866

Quality Score

Status

Chromosome

Chromosomal Location

94211454-94215495 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94214057 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 140 (M140L)

Ref Sequence

ENSEMBL: ENSMUSP00000036039 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041589
AA Change: M140L

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036039
Gene: ENSMUSG00000037573
AA Change: M140L

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	T	18: 59,048,842	M1118L	possibly damaging	Het
Ckmt2	A	T	13: 91,858,281	L315*	probably null	Het
Dusp28	T	A	1: 92,907,656	I154N	probably benign	Het
Ect2l	A	T	10: 18,159,817	I420N	probably damaging	Het
Erap1	C	A	13: 74,667,999	N82K	probably damaging	Het
Gsdma3	A	G	11: 98,629,759	D72G	possibly damaging	Het
Hectd1	T	A	12: 51,790,613	S720C	probably damaging	Het
Jakmip2	T	G	18: 43,552,201	E674A	probably benign	Het
Kcnt2	T	C	1: 140,425,248	S232P	probably damaging	Het
Kmo	T	C	1: 175,653,588	S291P	probably damaging	Het
Kpnb1	A	G	11: 97,177,286	V286A	probably damaging	Het
Ldah	T	A	12: 8,238,602	V83D	probably benign	Het
Mrgprb5	T	A	7: 48,168,166	I274F	probably damaging	Het
Mum1l1	T	C	X: 139,235,004	V97A	probably benign	Het
Mycbp2	A	G	14: 103,129,992	I988T	probably damaging	Het
Myh3	A	G	11: 67,089,023	E596G	probably benign	Het
Ndufs1	T	C	1: 63,147,141	I52V	probably benign	Het
Nhsl1	G	T	10: 18,527,607	D1363Y	probably damaging	Het
Olfr1450	A	G	19: 12,954,355	I255M	possibly damaging	Het
Olfr295	T	A	7: 86,585,693	C139*	probably null	Het
Olfr585	C	A	7: 103,098,383	T214K	probably damaging	Het
Olfr798	A	C	10: 129,625,706	Y118*	probably null	Het
Pcdhb19	T	C	18: 37,499,110	S653P	possibly damaging	Het
Plcb3	A	G	19: 6,957,676	L869P	probably damaging	Het
Prkdc	T	A	16: 15,831,327	F3722I	probably damaging	Het
Ptprd	T	C	4: 76,050,437	K206R	probably damaging	Het
Robo3	C	A	9: 37,422,306	R703L	possibly damaging	Het
Ubc	A	T	5: 125,387,422	D280E	probably benign	Het
Wasf3	C	A	5: 146,468,321	Q364K	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
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
R7922:Tob1	UTSW	11	94213772	missense	probably damaging	1.00
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
RF054:Tob1	UTSW	11	94214461	small insertion	probably benign
Z1177:Tob1	UTSW	11	94213992	missense	probably benign	0.38

Posted On

2015-12-18