Mutagenetix > Incidental Mutation

Incidental Mutation 'R9081:Tom1'

690015

Institutional Source

Beutler Lab

Gene Symbol

Tom1

Ensembl Gene

ENSMUSG00000042870

Gene Name

target of myb1 trafficking protein

Synonyms

MMRRC Submission

068900-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R9081 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75760333-75796749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75778151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 78 (V78I)

Ref Sequence

ENSEMBL: ENSMUSP00000077891 (fasta)

Gene Model

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

AlphaFold

O88746

Predicted Effect

probably damaging
Transcript: ENSMUST00000078847
AA Change: V78I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077891
Gene: ENSMUSG00000042870
AA Change: V78I

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: V78I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130854
Gene: ENSMUSG00000042870
AA Change: V78I

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

probably benign
Transcript: ENSMUST00000212299

Predicted Effect

probably benign
Transcript: ENSMUST00000212388

Predicted Effect

silent
Transcript: ENSMUST00000212564

Predicted Effect

probably benign
Transcript: ENSMUST00000212651

Meta Mutation Damage Score

0.5908

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (71/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	T	15: 102,248,502 (GRCm39)	V271E	probably damaging	Het
Abca1	A	G	4: 53,109,162 (GRCm39)		probably null	Het
Abcb11	C	T	2: 69,122,388 (GRCm39)	C365Y	possibly damaging	Het
Abcd2	A	T	15: 91,075,772 (GRCm39)	W14R	probably damaging	Het
Acmsd	A	G	1: 127,687,468 (GRCm39)	D250G	possibly damaging	Het
Ahnak	T	A	19: 8,985,890 (GRCm39)	D2391E	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Cbr1	G	T	16: 93,406,994 (GRCm39)	G237*	probably null	Het
Cdr2l	T	A	11: 115,284,939 (GRCm39)	V425E	probably damaging	Het
Chd9	A	T	8: 91,704,144 (GRCm39)	K693*	probably null	Het
Clgn	T	G	8: 84,153,169 (GRCm39)	D590E	probably damaging	Het
Col14a1	T	A	15: 55,291,387 (GRCm39)	S952T	unknown	Het
Crip3	T	C	17: 46,740,959 (GRCm39)	L90P	probably benign	Het
Dchs1	A	G	7: 105,403,636 (GRCm39)	S2969P	probably benign	Het
Dnai2	T	A	11: 114,629,493 (GRCm39)	D173E	probably damaging	Het
Dnpep	A	T	1: 75,291,060 (GRCm39)	F257Y	probably damaging	Het
Egln2	A	G	7: 26,864,286 (GRCm39)	V213A	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Eps8	A	G	6: 137,504,415 (GRCm39)	I106T	probably benign	Het
Evi5	A	G	5: 107,963,571 (GRCm39)	F379L	probably benign	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fpgs	A	T	2: 32,577,500 (GRCm39)		probably benign	Het
Garnl3	T	G	2: 32,896,920 (GRCm39)	D573A	possibly damaging	Het
Gja8	A	G	3: 96,826,676 (GRCm39)	S329P	probably damaging	Het
Gzf1	T	A	2: 148,525,317 (GRCm39)		probably benign	Het
Hgs	T	A	11: 120,366,076 (GRCm39)		probably benign	Het
Ifi203	A	G	1: 173,757,048 (GRCm39)	I245T	unknown	Het
Ighv1-74	C	A	12: 115,766,454 (GRCm39)	W55C	probably damaging	Het
Iqcb1	A	G	16: 36,656,006 (GRCm39)	K131R	probably null	Het
Kit	A	T	5: 75,801,218 (GRCm39)	M539L	probably benign	Het
Klk1	A	G	7: 43,874,952 (GRCm39)		probably benign	Het
Krt84	C	T	15: 101,440,814 (GRCm39)	G126D	unknown	Het
Lama5	A	T	2: 179,833,930 (GRCm39)	C1473*	probably null	Het
Loxl3	T	C	6: 83,025,638 (GRCm39)	V332A	possibly damaging	Het
Mcf2l	T	A	8: 13,068,697 (GRCm39)	Y1120N	probably damaging	Het
Meioc	G	A	11: 102,565,001 (GRCm39)	V150M	probably benign	Het
Mybpc1	T	G	10: 88,389,168 (GRCm39)	Y400S	probably damaging	Het
Ncmap	T	C	4: 135,104,292 (GRCm39)		probably benign	Het
Noc2l	A	G	4: 156,326,224 (GRCm39)	Y437C	probably damaging	Het
Nol8	A	T	13: 49,814,881 (GRCm39)	M330L	probably benign	Het
Or10d4c	A	T	9: 39,558,196 (GRCm39)	Y58F	probably damaging	Het
Or5b113	C	T	19: 13,342,019 (GRCm39)	T9I	probably benign	Het
P4ha1	T	C	10: 59,184,185 (GRCm39)	Y216H	probably damaging	Het
Pamr1	A	T	2: 102,441,933 (GRCm39)	D174V	probably damaging	Het
Pdcd1	C	T	1: 93,968,880 (GRCm39)		probably null	Het
Plec	A	G	15: 76,059,908 (GRCm39)	V3343A	probably damaging	Het
Pnliprp1	A	T	19: 58,723,406 (GRCm39)	I266F	probably benign	Het
Poglut2	T	A	1: 44,153,966 (GRCm39)	Q161L	probably benign	Het
Ppp1r12b	C	T	1: 134,705,085 (GRCm39)	V868I	probably benign	Het
Ppp2r2b	A	T	18: 42,781,825 (GRCm39)	H325Q	probably benign	Het
Rif1	C	T	2: 52,000,989 (GRCm39)	T1481I	probably damaging	Het
Rnf213	A	T	11: 119,357,062 (GRCm39)	D4204V		Het
Rps6kl1	T	C	12: 85,185,881 (GRCm39)	N409S	probably damaging	Het
Rundc1	T	G	11: 101,316,053 (GRCm39)	W42G	probably damaging	Het
Sec1	C	T	7: 45,333,987 (GRCm39)		probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Shc2	T	C	10: 79,462,762 (GRCm39)		probably null	Het
Slc19a1	T	C	10: 76,877,750 (GRCm39)	V95A	possibly damaging	Het
Slc22a5	A	T	11: 53,762,447 (GRCm39)	D333E	probably damaging	Het
Specc1	A	C	11: 62,010,051 (GRCm39)	R522S	possibly damaging	Het
Syne2	C	T	12: 76,016,290 (GRCm39)	Q3291*	probably null	Het
Taar7e	G	A	10: 23,913,893 (GRCm39)	V128I	probably benign	Het
Tdrd3	A	G	14: 87,743,717 (GRCm39)	N555S	probably benign	Het
Themis	C	T	10: 28,544,582 (GRCm39)		probably benign	Het
Tjp1	A	G	7: 64,964,010 (GRCm39)	V945A	possibly damaging	Het
Usp13	A	G	3: 32,935,542 (GRCm39)	T323A	probably benign	Het
Usp49	T	C	17: 47,984,236 (GRCm39)	S414P	possibly damaging	Het
Vmn1r104	G	A	7: 20,268,378 (GRCm39)	S206N	probably damaging	Het
Vps45	A	T	3: 95,940,125 (GRCm39)	V446E	probably benign	Het
Wwc1	T	C	11: 35,782,331 (GRCm39)	K222R	probably benign	Het
Zc3h13	CAGAGACCGGGACAGAAGGAGAGAC	CAGAGAC	14: 75,569,381 (GRCm39)		probably benign	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
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
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'- GAAGGGAGTCTTGTCTGTCC -3'
(R):5'- ACACGTAAGCAGCTCACTAG -3'

Sequencing Primer
(F):5'- GTCTGTCCTGTCATGTCCCAG -3'
(R):5'- GCAGAGTAGAATAGCCCCAGAATTC -3'

Posted On

2021-11-19