Mutagenetix > Incidental Mutation

Incidental Mutation 'R5737:Tomt'

444580

Institutional Source

Beutler Lab

Gene Symbol

Tomt

Ensembl Gene

ENSMUSG00000078630

Gene Name

transmembrane O-methyltransferase

Synonyms

Comt2, F930017I19Rik

MMRRC Submission

043195-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R5737 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101549010-101555572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101549524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 255 (T255A)

Ref Sequence

ENSEMBL: ENSMUSP00000102583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035395] [ENSMUST00000098237] [ENSMUST00000106969] [ENSMUST00000106970] [ENSMUST00000106973] [ENSMUST00000106978] [ENSMUST00000209334] [ENSMUST00000210984] [ENSMUST00000144207] [ENSMUST00000178851] [ENSMUST00000143835]

AlphaFold

A1Y9I9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000032884

Predicted Effect

probably benign
Transcript: ENSMUST00000035395

SMART Domains

Protein: ENSMUSP00000040286
Gene: ENSMUSG00000030649

Domain	Start	End	E-Value	Type
Pfam:ANAPC15	21	115	9.5e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098237

SMART Domains

Protein: ENSMUSP00000095839
Gene: ENSMUSG00000030649

Domain	Start	End	E-Value	Type
Pfam:ANAPC15	13	104	6.5e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106969
AA Change: T255A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102582
Gene: ENSMUSG00000078630
AA Change: T255A

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_3	64	226	1.2e-16	PFAM
Pfam:Methyltransf_24	103	212	5.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106970
AA Change: T255A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102583
Gene: ENSMUSG00000078630
AA Change: T255A

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_3	65	223	9.1e-19	PFAM
Pfam:Methyltransf_24	103	212	4.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106973

SMART Domains

Protein: ENSMUSP00000102586
Gene: ENSMUSG00000030649

Domain	Start	End	E-Value	Type
Pfam:ANAPC15	1	95	2.8e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106978

SMART Domains

Protein: ENSMUSP00000102591
Gene: ENSMUSG00000030649

Domain	Start	End	E-Value	Type
Pfam:ANAPC15	12	106	3.7e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150018

Predicted Effect

probably benign
Transcript: ENSMUST00000209334

Predicted Effect

probably benign
Transcript: ENSMUST00000210984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146286

Predicted Effect

probably benign
Transcript: ENSMUST00000144207

SMART Domains

Protein: ENSMUSP00000114771
Gene: ENSMUSG00000030649

Domain	Start	End	E-Value	Type
Pfam:ANAPC15	12	106	3.7e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178851

SMART Domains

Protein: ENSMUSP00000136164
Gene: ENSMUSG00000030649

Domain	Start	End	E-Value	Type
Pfam:ANAPC15	12	106	3.7e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143835

SMART Domains

Protein: ENSMUSP00000120373
Gene: ENSMUSG00000030649

Domain	Start	End	E-Value	Type
Pfam:ANAPC15	12	106	6.8e-47	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene includes two transcript forms. The short form has one open reading frame (ORF), which encodes the leucine-rich repeats (LRR)-containing protein of unknown function. This protein is called LRTOMT1 or LRRC51. The long form has two alternative ORFs; the upstream ORF has the same translation start codon as used in the short form and the resulting transcript is a candidate for nonsense-mediated decay, and the downstream ORF encodes a different protein, which is a transmembrane catechol-O-methyltransferase and is called LRTOMT2, TOMT or COMT2. The COMT2 is essential for auditory and vestibular function. Defects in the COMT2 can cause nonsyndromic deafness. Alternatively spliced transcript variants from each transcript form have been found for this gene. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a mutation of this gene exhibit marked hyperactivity, bidirectional circling and head-tossing. These behaviors are suppressed during sleep and nursing. Homozygous mutant males exhibit heightened male:male aggression. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Gene trapped(3) Chemically induced(1)

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,707,055 (GRCm39)	V78A	probably damaging	Het
Albfm1	G	T	5: 90,720,642 (GRCm39)	C271F	probably damaging	Het
Aldh1l2	T	A	10: 83,356,189 (GRCm39)	D67V	probably damaging	Het
Ankfy1	T	A	11: 72,623,100 (GRCm39)	D253E	probably damaging	Het
Arhgap42	T	C	9: 9,059,069 (GRCm39)	K159R	probably damaging	Het
Atrnl1	C	T	19: 57,766,320 (GRCm39)	A1219V	possibly damaging	Het
Cacna1c	C	T	6: 118,718,893 (GRCm39)	V386I	probably damaging	Het
Cacna2d2	A	G	9: 107,403,946 (GRCm39)	T1015A	possibly damaging	Het
Cadps2	T	C	6: 23,328,804 (GRCm39)	M999V	probably benign	Het
Ccer1	A	T	10: 97,530,546 (GRCm39)	H403L	possibly damaging	Het
Cubn	A	T	2: 13,393,702 (GRCm39)	I1433N	probably damaging	Het
Dcbld2	T	C	16: 58,281,348 (GRCm39)	V531A	probably damaging	Het
Dnah11	A	G	12: 118,156,125 (GRCm39)	V175A	probably benign	Het
Dnah3	T	C	7: 119,658,421 (GRCm39)	K920R	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dscaml1	C	T	9: 45,656,483 (GRCm39)	R1608C	probably damaging	Het
Gtf3c2	A	G	5: 31,325,593 (GRCm39)		probably null	Het
Heca	A	T	10: 17,791,462 (GRCm39)	M198K	possibly damaging	Het
Igkv8-24	A	T	6: 70,194,122 (GRCm39)	S29T	probably benign	Het
Lipo2	A	C	19: 33,699,096 (GRCm39)	N311K	probably damaging	Het
Lmo7	T	G	14: 102,124,672 (GRCm39)	I266S	probably damaging	Het
Naip2	T	A	13: 100,298,362 (GRCm39)	E558V	probably benign	Het
Nelfa	T	A	5: 34,056,457 (GRCm39)		probably null	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Psmg2	T	C	18: 67,779,107 (GRCm39)	S92P	possibly damaging	Het
Rasa2	C	T	9: 96,452,718 (GRCm39)		probably null	Het
Slc6a3	A	C	13: 73,692,923 (GRCm39)	N181T	probably damaging	Het
Tdrd5	A	G	1: 156,128,294 (GRCm39)	M136T	probably benign	Het
Tmem178b	A	C	6: 40,222,575 (GRCm39)	M97L	possibly damaging	Het
Tnfaip8l1	A	G	17: 56,478,950 (GRCm39)	D80G	probably benign	Het
Uqcc5	A	G	14: 30,850,676 (GRCm39)	I22T	probably benign	Het
Vmn2r26	G	T	6: 124,016,408 (GRCm39)	V291F	probably benign	Het

Other mutations in Tomt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Tomt	APN	7	101,551,393 (GRCm39)	missense	probably benign	0.00
add	UTSW	7	101,551,336 (GRCm39)	missense	probably damaging	1.00
R1913:Tomt	UTSW	7	101,550,454 (GRCm39)	missense	probably damaging	1.00
R6527:Tomt	UTSW	7	101,549,599 (GRCm39)	missense	probably damaging	1.00
R7414:Tomt	UTSW	7	101,549,715 (GRCm39)	missense	probably damaging	1.00
R7978:Tomt	UTSW	7	101,549,554 (GRCm39)	missense	probably damaging	0.99
R8930:Tomt	UTSW	7	101,550,350 (GRCm39)	missense	probably damaging	1.00
R8932:Tomt	UTSW	7	101,550,350 (GRCm39)	missense	probably damaging	1.00
R9302:Tomt	UTSW	7	101,549,826 (GRCm39)	missense	probably damaging	1.00
R9780:Tomt	UTSW	7	101,549,536 (GRCm39)	missense	probably benign	0.00
X0018:Tomt	UTSW	7	101,549,778 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TCCAGTTCCTGATTTTCTATGAGGG -3'
(R):5'- TAAGGGATCTGCAGCTACTGG -3'

Sequencing Primer
(F):5'- CCTTGTAGGACCAAAAAGGCTAATAG -3'
(R):5'- TACTGGAGGCCCATGCTCTG -3'

Posted On

2016-11-21