Mutagenetix > Incidental Mutation

Incidental Mutation 'R0762:Tom1'

72459

Institutional Source

Beutler Lab

Gene Symbol

Tom1

Ensembl Gene

ENSMUSG00000042870

Gene Name

target of myb1 trafficking protein

Synonyms

MMRRC Submission

038942-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0762 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75760333-75796749 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 75778934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078847] [ENSMUST00000165630] [ENSMUST00000211869] [ENSMUST00000212299] [ENSMUST00000212388] [ENSMUST00000212564] [ENSMUST00000212651]

AlphaFold

O88746

Predicted Effect

probably benign
Transcript: ENSMUST00000078847

SMART Domains

Protein: ENSMUSP00000077891
Gene: ENSMUSG00000042870

Domain	Start	End	E-Value	Type
VHS	13	148	4.03e-68	SMART
Pfam:GAT	228	303	1.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165630

SMART Domains

Protein: ENSMUSP00000130854
Gene: ENSMUSG00000042870

Domain	Start	End	E-Value	Type
VHS	13	148	4.03e-68	SMART
Pfam:GAT	212	312	5.1e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211938

Predicted Effect

probably benign
Transcript: ENSMUST00000212299

Predicted Effect

probably benign
Transcript: ENSMUST00000212388

Predicted Effect

probably benign
Transcript: ENSMUST00000212564

Predicted Effect

probably benign
Transcript: ENSMUST00000212651

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.2%
20x: 93.9%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a target of the v-myb oncogene. The encoded protein shares its N-terminal domain in common with proteins associated with vesicular trafficking at the endosome. It is recruited to the endosomes by its interaction with endofin. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,482,667 (GRCm39)	N475I	probably damaging	Het
Adar	T	C	3: 89,647,290 (GRCm39)		probably benign	Het
Aldh3b3	A	T	19: 4,015,747 (GRCm39)		probably null	Het
Amtn	C	T	5: 88,532,859 (GRCm39)	T158I	possibly damaging	Het
Ap1g2	A	G	14: 55,337,868 (GRCm39)		probably benign	Het
Arhgef3	A	G	14: 27,119,584 (GRCm39)	Y318C	probably damaging	Het
Atg2b	A	C	12: 105,641,229 (GRCm39)	V69G	possibly damaging	Het
Bbx	G	A	16: 50,045,529 (GRCm39)	T236I	possibly damaging	Het
Bcl11b	C	T	12: 107,931,922 (GRCm39)		probably benign	Het
Catsperg1	T	C	7: 28,889,377 (GRCm39)	I794V	probably benign	Het
Ccdc88a	C	T	11: 29,413,112 (GRCm39)		probably benign	Het
Cdhr3	C	A	12: 33,110,300 (GRCm39)	R328L	probably benign	Het
Ces2e	T	A	8: 105,656,496 (GRCm39)	M242K	probably damaging	Het
Col12a1	A	G	9: 79,588,656 (GRCm39)		probably benign	Het
Col3a1	T	C	1: 45,360,686 (GRCm39)	S39P	unknown	Het
Cplane1	A	G	15: 8,247,900 (GRCm39)		probably benign	Het
Cyp2a5	T	A	7: 26,538,298 (GRCm39)	Y220*	probably null	Het
Dcc	T	A	18: 71,475,776 (GRCm39)		probably benign	Het
Dnajb8	A	G	6: 88,200,036 (GRCm39)	T191A	probably damaging	Het
Ephx2	A	T	14: 66,339,628 (GRCm39)	F199I	probably damaging	Het
Fancd2	A	G	6: 113,551,619 (GRCm39)	K1062E	probably benign	Het
Fbxo33	A	G	12: 59,251,285 (GRCm39)	V410A	probably benign	Het
Gars1	T	G	6: 55,054,565 (GRCm39)		probably null	Het
Git1	A	C	11: 77,390,660 (GRCm39)	D132A	possibly damaging	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Gucy1a1	T	C	3: 82,002,203 (GRCm39)	T44A	unknown	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Ifnlr1	A	G	4: 135,428,640 (GRCm39)	K156E	possibly damaging	Het
Klf13	T	C	7: 63,541,371 (GRCm39)	N15S	probably benign	Het
Krt77	T	C	15: 101,769,561 (GRCm39)		probably null	Het
Ldc1	A	G	4: 130,115,417 (GRCm39)	S44P	probably damaging	Het
Map4	C	A	9: 109,867,546 (GRCm39)		probably benign	Het
Mthfr	T	C	4: 148,139,900 (GRCm39)	I623T	possibly damaging	Het
Myo7b	T	A	18: 32,116,997 (GRCm39)	T908S	probably benign	Het
Nbeal2	T	G	9: 110,472,876 (GRCm39)		probably benign	Het
Nwd2	T	G	5: 63,957,757 (GRCm39)	F362L	probably benign	Het
Pcm1	A	T	8: 41,714,057 (GRCm39)	R208W	probably damaging	Het
Pkd2l1	T	C	19: 44,138,909 (GRCm39)	D647G	probably benign	Het
Plbd1	C	T	6: 136,618,145 (GRCm39)	V24M	probably damaging	Het
Polr2a	G	A	11: 69,625,943 (GRCm39)	P1698S	unknown	Het
Prss12	T	C	3: 123,279,153 (GRCm39)	I410T	probably damaging	Het
Ptpre	A	G	7: 135,280,964 (GRCm39)	N565S	probably damaging	Het
Rab44	T	C	17: 29,364,244 (GRCm39)	L606P	unknown	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Rhd	C	T	4: 134,603,612 (GRCm39)		probably benign	Het
Rspo3	T	A	10: 29,375,917 (GRCm39)		probably benign	Het
Sdccag8	T	A	1: 176,773,710 (GRCm39)	N555K	probably benign	Het
Skint6	T	A	4: 112,722,848 (GRCm39)		probably benign	Het
Slc22a20	G	A	19: 6,036,036 (GRCm39)	P45S	probably damaging	Het
Slc5a2	A	G	7: 127,866,654 (GRCm39)	Y124C	probably damaging	Het
Spats2l	T	C	1: 57,925,043 (GRCm39)	L127P	possibly damaging	Het
Taar8a	T	A	10: 23,952,975 (GRCm39)	I193N	probably benign	Het
Ten1	C	T	11: 116,107,510 (GRCm39)		probably benign	Het
Tfb2m	T	C	1: 179,373,398 (GRCm39)	E100G	probably damaging	Het
Vps52	G	T	17: 34,178,985 (GRCm39)	R171L	probably damaging	Het
Zcwpw2	A	T	9: 117,843,182 (GRCm39)		noncoding transcript	Het
Zfhx4	G	A	3: 5,468,880 (GRCm39)	E3013K	probably damaging	Het
Zfp267	G	A	3: 36,220,016 (GRCm39)	D680N	possibly damaging	Het
Zfp777	C	T	6: 48,006,294 (GRCm39)	V411M	probably damaging	Het

Other mutations in Tom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Tom1	APN	8	75,778,802 (GRCm39)	missense	probably benign	0.27
IGL00979:Tom1	APN	8	75,781,331 (GRCm39)	unclassified	probably benign
IGL01143:Tom1	APN	8	75,785,085 (GRCm39)	missense	probably benign	0.00
IGL02825:Tom1	APN	8	75,783,883 (GRCm39)	missense	probably damaging	1.00
R0335:Tom1	UTSW	8	75,791,020 (GRCm39)	critical splice acceptor site	probably null
R1317:Tom1	UTSW	8	75,778,179 (GRCm39)	missense	probably benign	0.03
R1509:Tom1	UTSW	8	75,781,259 (GRCm39)	missense	probably damaging	1.00
R1691:Tom1	UTSW	8	75,778,227 (GRCm39)	missense	probably damaging	1.00
R1761:Tom1	UTSW	8	75,778,179 (GRCm39)	missense	probably benign	0.03
R1906:Tom1	UTSW	8	75,778,218 (GRCm39)	missense	probably damaging	1.00
R3966:Tom1	UTSW	8	75,785,867 (GRCm39)	missense	probably benign	0.05
R5004:Tom1	UTSW	8	75,778,630 (GRCm39)	missense	probably damaging	1.00
R5513:Tom1	UTSW	8	75,783,848 (GRCm39)	missense	probably damaging	0.99
R5906:Tom1	UTSW	8	75,776,886 (GRCm39)	missense	probably damaging	1.00
R6147:Tom1	UTSW	8	75,781,320 (GRCm39)	missense	possibly damaging	0.90
R6964:Tom1	UTSW	8	75,778,593 (GRCm39)	missense	probably null	1.00
R7010:Tom1	UTSW	8	75,778,603 (GRCm39)	missense	probably damaging	0.98
R7131:Tom1	UTSW	8	75,783,877 (GRCm39)	missense	possibly damaging	0.88
R7147:Tom1	UTSW	8	75,783,895 (GRCm39)	missense	probably damaging	1.00
R8701:Tom1	UTSW	8	75,778,796 (GRCm39)	missense	probably benign	0.00
R9081:Tom1	UTSW	8	75,778,151 (GRCm39)	missense	probably damaging	1.00
R9278:Tom1	UTSW	8	75,783,883 (GRCm39)	missense	probably damaging	1.00
R9344:Tom1	UTSW	8	75,785,076 (GRCm39)	missense	probably damaging	1.00
R9563:Tom1	UTSW	8	75,787,177 (GRCm39)	missense	probably benign	0.11
R9647:Tom1	UTSW	8	75,785,495 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCCCATGACTGACCTGGACATGCTG -3'
(R):5'- AAGTGGAAGGGAACACCTGCCTGTTG -3'

Sequencing Primer
(F):5'- TACAGTGCCTTTCCAGGAAGC -3'
(R):5'- tcagagagactggaacttgaatc -3'

Posted On

2013-09-30