Mutagenetix > Incidental Mutation

Incidental Mutation 'R4899:Tob1'

376027

Institutional Source

Beutler Lab

Gene Symbol

Tob1

Ensembl Gene

ENSMUSG00000037573

Gene Name

transducer of ErbB-2.1

Synonyms

Trob, Tob

MMRRC Submission

042503-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4899 (G1)

Quality Score

107

Status

Not validated

Chromosome

Chromosomal Location

94211454-94215495 bp(+) (GRCm38)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

ACAGCAGCAGCAGCAGCAGCAGCAGCA to ACAGCAGCAGCAGCAGCAGCAGCA at 94214452 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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	C	G	3: 40,905,869 (GRCm38)		probably null	Het
Adra2c	A	T	5: 35,280,361 (GRCm38)	Y159F	probably damaging	Het
Alkal2	T	A	12: 30,884,973 (GRCm38)	S64T	probably benign	Het
Apbb1ip	T	C	2: 22,823,349 (GRCm38)	V72A	unknown	Het
Atp13a5	A	G	16: 29,378,500 (GRCm38)	L13P	probably damaging	Het
Azin2	G	A	4: 128,934,653 (GRCm38)	P254S	probably benign	Het
Bmpr1b	T	C	3: 141,840,683 (GRCm38)	R481G	probably damaging	Het
Cacna2d4	G	A	6: 119,268,196 (GRCm38)	W288*	probably null	Het
Cass4	A	G	2: 172,427,869 (GRCm38)	T626A	probably benign	Het
Cep112	T	A	11: 108,606,284 (GRCm38)	D683E	probably damaging	Het
Cfap300	A	T	9: 8,022,493 (GRCm38)	S243T	possibly damaging	Het
Chat	G	T	14: 32,448,977 (GRCm38)	S188R	possibly damaging	Het
Cit	A	G	5: 115,863,028 (GRCm38)	Y162C	possibly damaging	Het
Clca3a1	T	A	3: 144,737,961 (GRCm38)	Y676F	probably damaging	Het
Clec2h	A	G	6: 128,675,824 (GRCm38)	N185D	probably benign	Het
Cnbd2	G	T	2: 156,339,221 (GRCm38)	V192F	probably benign	Het
Col6a3	C	A	1: 90,802,427 (GRCm38)	G1112V	probably damaging	Het
Csta2	A	T	16: 36,257,365 (GRCm38)	Y96F	possibly damaging	Het
Cyp3a25	A	G	5: 145,977,671 (GRCm38)	F483S	possibly damaging	Het
Dscam	T	C	16: 96,683,818 (GRCm38)	E1103G	probably benign	Het
Dync2h1	G	A	9: 7,131,921 (GRCm38)	Q1629*	probably null	Het
Enpp6	A	G	8: 46,987,083 (GRCm38)	Y38C	probably damaging	Het
Epg5	T	A	18: 77,985,057 (GRCm38)	L1271Q	probably damaging	Het
Fam47e	G	A	5: 92,574,669 (GRCm38)	V75I	probably benign	Het
Fat3	T	C	9: 15,969,799 (GRCm38)	D3259G	probably damaging	Het
Fbxw28	T	C	9: 109,330,853 (GRCm38)	D211G	probably damaging	Het
Flnc	A	G	6: 29,446,843 (GRCm38)	N990D	probably benign	Het
Frat1	T	G	19: 41,830,322 (GRCm38)	L52R	probably damaging	Het
Ftmt	C	G	18: 52,331,586 (GRCm38)		probably benign	Het
H2-M1	C	T	17: 36,671,220 (GRCm38)	G163D	probably benign	Het
Hapln1	A	G	13: 89,601,650 (GRCm38)	K105E	possibly damaging	Het
Igkv17-127	G	T	6: 67,861,397 (GRCm38)	A31S	probably benign	Het
Il6st	T	C	13: 112,501,161 (GRCm38)	L628P	probably damaging	Het
Kcnj6	A	G	16: 94,832,613 (GRCm38)	I213T	probably damaging	Het
Kidins220	T	C	12: 25,013,443 (GRCm38)		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643 (GRCm38)		probably null	Het
Llgl1	C	T	11: 60,709,568 (GRCm38)	P581L	probably benign	Het
Mertk	C	A	2: 128,783,925 (GRCm38)	P660Q	probably damaging	Het
Mrtfa	A	G	15: 81,018,386 (GRCm38)	Y241H	probably damaging	Het
Mtarc2	A	T	1: 184,845,624 (GRCm38)	I65N	probably damaging	Het
Napepld	A	G	5: 21,683,440 (GRCm38)	Y4H	probably benign	Het
Ncam1	T	A	9: 49,545,251 (GRCm38)		probably null	Het
Nuak2	A	T	1: 132,324,986 (GRCm38)	K93*	probably null	Het
Oat	A	T	7: 132,564,222 (GRCm38)	D211E	probably benign	Het
Or1j19	A	G	2: 36,786,798 (GRCm38)	Q91R	probably benign	Het
Or2aj6	G	A	16: 19,624,200 (GRCm38)	A300V	probably benign	Het
Or4c109	A	C	2: 88,988,110 (GRCm38)	L31V	probably null	Het
Or51b17	A	G	7: 103,893,465 (GRCm38)	I90T	possibly damaging	Het
Or7a39	A	T	10: 78,879,207 (GRCm38)	S12C	probably benign	Het
Pde4dip	C	A	3: 97,709,558 (GRCm38)	K1789N	probably damaging	Het
Piezo2	T	C	18: 63,078,791 (GRCm38)	I1322V	possibly damaging	Het
Pih1d1	A	G	7: 45,154,527 (GRCm38)		probably benign	Het
Plekhd1	T	C	12: 80,722,327 (GRCm38)	S454P	probably damaging	Het
Polr2h	G	A	16: 20,720,553 (GRCm38)	V89M	probably damaging	Het
Pptc7	G	A	5: 122,284,717 (GRCm38)	G17S	possibly damaging	Het
Pramel55	T	C	5: 95,801,727 (GRCm38)	V111A	probably benign	Het
Ptpra	T	C	2: 130,544,436 (GRCm38)	V602A	probably damaging	Het
Rnf123	C	T	9: 108,063,680 (GRCm38)	R654H	probably damaging	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Samsn1	A	G	16: 75,879,103 (GRCm38)	S135P	probably damaging	Het
Sgsm3	A	G	15: 81,006,779 (GRCm38)	N147S	probably benign	Het
Shoc1	T	C	4: 59,062,640 (GRCm38)	Y872C	probably damaging	Het
Slc22a29	T	C	19: 8,161,569 (GRCm38)	T510A	probably benign	Het
Smc4	T	A	3: 69,031,811 (GRCm38)	H978Q	probably damaging	Het
Sox7	G	A	14: 63,948,478 (GRCm38)	R321H	probably damaging	Het
Spred3	T	C	7: 29,161,833 (GRCm38)	D307G	probably damaging	Het
Syne2	T	A	12: 75,854,101 (GRCm38)	D11E	probably benign	Het
Top2b	A	T	14: 16,387,313 (GRCm38)	I134F	probably damaging	Het
Tspan1	T	A	4: 116,163,366 (GRCm38)	R206*	probably null	Het
Ttc3	A	T	16: 94,429,455 (GRCm38)	N837I	probably damaging	Het
Vmn1r36	T	C	6: 66,716,565 (GRCm38)	T72A	possibly damaging	Het
Vmn2r10	A	G	5: 109,003,458 (GRCm38)	S97P	probably damaging	Het
Zfp2	T	A	11: 50,900,014 (GRCm38)	I401F	probably damaging	Het
Zfp629	T	C	7: 127,611,018 (GRCm38)	T540A	possibly damaging	Het
Zfr	G	A	15: 12,166,145 (GRCm38)	V834I	probably benign	Het

Other mutations in Tob1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Tob1	APN	11	94,214,055 (GRCm38)	missense	probably damaging	1.00
IGL02028:Tob1	APN	11	94,214,226 (GRCm38)	missense	probably benign	0.43
IGL02866:Tob1	APN	11	94,214,057 (GRCm38)	missense	possibly damaging	0.87
FR4304:Tob1	UTSW	11	94,214,477 (GRCm38)	nonsense	probably null
FR4304:Tob1	UTSW	11	94,214,464 (GRCm38)	small insertion	probably benign
FR4340:Tob1	UTSW	11	94,214,477 (GRCm38)	small insertion	probably benign
FR4340:Tob1	UTSW	11	94,214,454 (GRCm38)	small insertion	probably benign
FR4340:Tob1	UTSW	11	94,214,460 (GRCm38)	small insertion	probably benign
FR4342:Tob1	UTSW	11	94,214,472 (GRCm38)	small insertion	probably benign
FR4449:Tob1	UTSW	11	94,214,475 (GRCm38)	small insertion	probably benign
FR4449:Tob1	UTSW	11	94,214,468 (GRCm38)	small insertion	probably benign
FR4548:Tob1	UTSW	11	94,214,469 (GRCm38)	small insertion	probably benign
FR4548:Tob1	UTSW	11	94,214,455 (GRCm38)	small insertion	probably benign
FR4589:Tob1	UTSW	11	94,214,477 (GRCm38)	frame shift	probably null
FR4589:Tob1	UTSW	11	94,214,451 (GRCm38)	small insertion	probably benign
FR4737:Tob1	UTSW	11	94,214,478 (GRCm38)	small insertion	probably benign
FR4737:Tob1	UTSW	11	94,214,451 (GRCm38)	small insertion	probably benign
FR4737:Tob1	UTSW	11	94,214,464 (GRCm38)	small insertion	probably benign
FR4976:Tob1	UTSW	11	94,214,472 (GRCm38)	small insertion	probably benign
R0142:Tob1	UTSW	11	94,214,597 (GRCm38)	missense	probably damaging	1.00
R1777:Tob1	UTSW	11	94,213,754 (GRCm38)	missense	probably damaging	1.00
R4213:Tob1	UTSW	11	94,214,192 (GRCm38)	missense	probably damaging	1.00
R4280:Tob1	UTSW	11	94,214,322 (GRCm38)	missense	probably benign
R4537:Tob1	UTSW	11	94,214,452 (GRCm38)	small deletion	probably benign
R5074:Tob1	UTSW	11	94,213,741 (GRCm38)	missense	possibly damaging	0.88
R5502:Tob1	UTSW	11	94,214,452 (GRCm38)	small deletion	probably benign
R5828:Tob1	UTSW	11	94,213,757 (GRCm38)	missense	probably damaging	1.00
R5828:Tob1	UTSW	11	94,213,759 (GRCm38)	nonsense	probably null
R7471:Tob1	UTSW	11	94,213,882 (GRCm38)	missense	probably benign	0.45
R7839:Tob1	UTSW	11	94,213,772 (GRCm38)	missense	probably damaging	1.00
R8383:Tob1	UTSW	11	94,214,377 (GRCm38)	small deletion	probably benign
R8491:Tob1	UTSW	11	94,214,289 (GRCm38)	missense	probably benign	0.11
R9131:Tob1	UTSW	11	94,214,377 (GRCm38)	small deletion	probably benign
R9521:Tob1	UTSW	11	94,214,379 (GRCm38)	small deletion	probably benign
R9542:Tob1	UTSW	11	94,214,408 (GRCm38)	missense	unknown
R9729:Tob1	UTSW	11	94,214,054 (GRCm38)	missense	probably damaging	1.00
R9744:Tob1	UTSW	11	94,214,228 (GRCm38)	missense	probably damaging	0.99
RF028:Tob1	UTSW	11	94,214,451 (GRCm38)	small insertion	probably benign
RF041:Tob1	UTSW	11	94,214,451 (GRCm38)	small insertion	probably benign
RF042:Tob1	UTSW	11	94,214,451 (GRCm38)	small insertion	probably benign
RF044:Tob1	UTSW	11	94,214,461 (GRCm38)	small insertion	probably benign
RF054:Tob1	UTSW	11	94,214,461 (GRCm38)	small insertion	probably benign
Z1177:Tob1	UTSW	11	94,213,992 (GRCm38)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- AGAATAGTGGCCGTAGCAGC -3'
(R):5'- AAACACATCAAAGGCATTGCTG -3'

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

Posted On

2016-03-17