Mutagenetix > Incidental Mutation

Incidental Mutation 'R5513:Tom1'

440186

Institutional Source

Beutler Lab

Gene Symbol

Tom1

Ensembl Gene

ENSMUSG00000042870

Gene Name

target of myb1 trafficking protein

Synonyms

MMRRC Submission

043073-MU

Accession Numbers

Essential gene?

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

Stock #

R5513 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75760333-75796749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75783848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 52 (N52K)

Ref Sequence

ENSEMBL: ENSMUSP00000148271 (fasta)

Gene Model

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

AlphaFold

O88746

Predicted Effect

probably damaging
Transcript: ENSMUST00000078847
AA Change: N277K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077891
Gene: ENSMUSG00000042870
AA Change: N277K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165630
AA Change: N277K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130854
Gene: ENSMUSG00000042870
AA Change: N277K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212278

Predicted Effect

probably benign
Transcript: ENSMUST00000212299

Predicted Effect

probably damaging
Transcript: ENSMUST00000212388
AA Change: N52K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000212651

Meta Mutation Damage Score

0.7718

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (59/61)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,539,623 (GRCm39)		probably null	Het
Akr1b1	C	A	6: 34,293,581 (GRCm39)		probably benign	Het
Alppl2	T	A	1: 87,015,060 (GRCm39)	N434Y	probably benign	Het
Ampd2	A	G	3: 107,982,983 (GRCm39)	I648T	possibly damaging	Het
Ankrd11	T	C	8: 123,619,259 (GRCm39)	E1510G	probably benign	Het
Ano2	A	C	6: 126,016,285 (GRCm39)	K939N	possibly damaging	Het
Arhgef5	A	G	6: 43,249,273 (GRCm39)	Y8C	probably damaging	Het
Aspm	A	T	1: 139,410,136 (GRCm39)	I2609F	probably damaging	Het
Camsap2	A	T	1: 136,208,601 (GRCm39)	S964T	probably benign	Het
Cd22	C	T	7: 30,566,450 (GRCm39)	R823Q	probably damaging	Het
Cd74	T	C	18: 60,944,377 (GRCm39)	C196R	probably damaging	Het
Cfap73	A	T	5: 120,769,777 (GRCm39)	I82N	probably damaging	Het
Cidec	A	T	6: 113,405,140 (GRCm39)	Y177N	probably damaging	Het
Crb1	C	T	1: 139,164,559 (GRCm39)		probably null	Het
Cts7	T	C	13: 61,503,398 (GRCm39)	K189E	possibly damaging	Het
Cyp2c68	A	T	19: 39,691,850 (GRCm39)	Y358N	probably damaging	Het
Dab2ip	A	T	2: 35,600,266 (GRCm39)	H294L	probably benign	Het
Dnah6	T	C	6: 73,167,402 (GRCm39)	D502G	probably null	Het
Dnah8	T	A	17: 30,971,890 (GRCm39)	M2768K	probably damaging	Het
Etl4	C	A	2: 20,748,638 (GRCm39)	S405R	probably damaging	Het
Fsip2	G	T	2: 82,781,252 (GRCm39)	L19F	probably damaging	Het
Fsip2	T	A	2: 82,815,542 (GRCm39)	N3758K	possibly damaging	Het
Fsip2	C	G	2: 82,781,256 (GRCm39)	Q217E	probably benign	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Hivep2	A	T	10: 14,008,417 (GRCm39)	K1672*	probably null	Het
Igkv2-137	G	A	6: 67,532,998 (GRCm39)	G54S	possibly damaging	Het
Ints8	A	G	4: 11,248,303 (GRCm39)	V105A	possibly damaging	Het
Lrba	C	T	3: 86,449,948 (GRCm39)	S2089F	probably damaging	Het
Lrrc8b	A	G	5: 105,633,850 (GRCm39)	K774R	probably damaging	Het
Mcm4	T	A	16: 15,448,378 (GRCm39)	Y393F	probably benign	Het
Mki67	A	G	7: 135,309,479 (GRCm39)	L324P	probably damaging	Het
Or4d6	A	G	19: 12,086,745 (GRCm39)	L55P	probably damaging	Het
Or52n3	A	T	7: 104,530,706 (GRCm39)	H264L	probably damaging	Het
Or5a3	G	A	19: 12,400,047 (GRCm39)	V125I	probably benign	Het
Or9s13	T	C	1: 92,548,102 (GRCm39)	V158A	probably benign	Het
Pld4	A	G	12: 112,728,988 (GRCm39)	E19G	probably benign	Het
Plvap	T	C	8: 71,964,173 (GRCm39)	E63G	probably damaging	Het
Ppig	A	G	2: 69,580,703 (GRCm39)	T746A	probably benign	Het
Prdm2	GCTCCTCCTCCTCCTCCTCCTCCTC	GCTCCTCCTCCTCCTCCTCCTC	4: 142,862,463 (GRCm39)		probably benign	Het
Rbm15b	A	G	9: 106,763,316 (GRCm39)	L284P	probably benign	Het
Relch	G	A	1: 105,678,698 (GRCm39)	V1130I	probably damaging	Het
Rhbdl3	T	C	11: 80,222,668 (GRCm39)	V239A	probably damaging	Het
Sae1	T	C	7: 16,100,781 (GRCm39)	E197G	probably benign	Het
Sdhaf2	C	T	19: 10,494,394 (GRCm39)	R105H	probably damaging	Het
Senp3	T	C	11: 69,567,965 (GRCm39)	D425G	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc46a1	T	C	11: 78,357,376 (GRCm39)	F143S	probably benign	Het
Vmn1r11	A	T	6: 57,114,617 (GRCm39)	T94S	probably damaging	Het
Zfp236	A	G	18: 82,676,147 (GRCm39)	I390T	probably damaging	Het
Zfp709	A	T	8: 72,643,900 (GRCm39)	H443L	probably damaging	Het
Zfp960	C	T	17: 17,307,996 (GRCm39)	P237S	possibly 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
R0762:Tom1	UTSW	8	75,778,934 (GRCm39)	splice site	probably benign
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
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'- CTTGAGAACAGGCTTGTGGAG -3'
(R):5'- TCTAGAGCAGAGCACTTTGC -3'

Sequencing Primer
(F):5'- TTGTGGAGCCATGAAGACCC -3'
(R):5'- CCAAGCAGCTCAGTGACG -3'

Posted On

2016-11-08