Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00433:Tomt'

5194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tomt

Ensembl Gene

ENSMUSG00000078630

Gene Name

transmembrane O-methyltransferase

Synonyms

Comt2, F930017I19Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00433

Quality Score

Status

Chromosome

Chromosomal Location

101549010-101555572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101551393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 29 (R29H)

Ref Sequence

ENSEMBL: ENSMUSP00000102583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033131] [ENSMUST00000035395] [ENSMUST00000098237] [ENSMUST00000106969] [ENSMUST00000106970] [ENSMUST00000106973] [ENSMUST00000209334] [ENSMUST00000210984] [ENSMUST00000143835] [ENSMUST00000178851] [ENSMUST00000106978] [ENSMUST00000144207] [ENSMUST00000193465]

AlphaFold

A1Y9I9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000032884

Predicted Effect

probably benign
Transcript: ENSMUST00000033131

SMART Domains

Protein: ENSMUSP00000033131
Gene: ENSMUSG00000030842

Domain	Start	End	E-Value	Type
LAMTOR	15	90	1.48e-22	SMART

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: R29H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102582
Gene: ENSMUSG00000078630
AA Change: R29H

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: R29H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102583
Gene: ENSMUSG00000078630
AA Change: R29H

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

noncoding transcript
Transcript: ENSMUST00000137949

Predicted Effect

probably benign
Transcript: ENSMUST00000209334

Predicted Effect

probably benign
Transcript: ENSMUST00000210984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150018

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

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: ENSMUST00000106978

SMART Domains

Protein: ENSMUSP00000102591
Gene: ENSMUSG00000030649

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

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: ENSMUST00000193465

SMART Domains

Protein: ENSMUSP00000141774
Gene: ENSMUSG00000030842

Domain	Start	End	E-Value	Type
LAMTOR	15	90	1.1e-26	SMART

Coding Region Coverage

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	G	A	15: 94,292,522 (GRCm39)	A196V	probably benign	Het
BC024139	A	G	15: 76,009,300 (GRCm39)	V238A	probably benign	Het
Bfar	G	A	16: 13,516,827 (GRCm39)	D350N	probably benign	Het
C4b	A	T	17: 34,961,015 (GRCm39)	F217Y	possibly damaging	Het
Camk1g	T	C	1: 193,029,657 (GRCm39)		probably benign	Het
Camkmt	A	G	17: 85,404,094 (GRCm39)		probably benign	Het
Cass4	T	C	2: 172,258,170 (GRCm39)	L56P	probably damaging	Het
Ccs	A	G	19: 4,875,636 (GRCm39)	I243T	possibly damaging	Het
Cds2	T	C	2: 132,139,213 (GRCm39)	V152A	probably damaging	Het
Chd1l	T	C	3: 97,497,921 (GRCm39)	N307D	probably damaging	Het
Cmtm2b	T	C	8: 105,057,078 (GRCm39)	I146T	possibly damaging	Het
Cntnap3	T	C	13: 64,920,545 (GRCm39)	Y608C	probably damaging	Het
Cog5	A	G	12: 31,735,703 (GRCm39)	R157G	probably damaging	Het
Csmd1	A	C	8: 16,281,387 (GRCm39)	F713V	probably damaging	Het
Csrp3	T	C	7: 48,480,440 (GRCm39)	N175D	probably benign	Het
Exoc4	A	G	6: 33,273,723 (GRCm39)	D176G	probably damaging	Het
Fbxo10	T	C	4: 45,058,684 (GRCm39)	D351G	probably damaging	Het
Gm12185	A	T	11: 48,798,049 (GRCm39)	S815T	probably benign	Het
Gpld1	A	G	13: 25,170,905 (GRCm39)		probably benign	Het
Hspa2	T	C	12: 76,453,123 (GRCm39)	C606R	possibly damaging	Het
Leo1	C	T	9: 75,357,762 (GRCm39)		probably benign	Het
Mta3	C	T	17: 84,015,861 (GRCm39)	P21L	probably damaging	Het
Pkn1	T	C	8: 84,407,635 (GRCm39)	E471G	probably damaging	Het
Postn	C	T	3: 54,281,149 (GRCm39)	R425C	probably damaging	Het
Reln	A	G	5: 22,250,007 (GRCm39)	L676P	probably damaging	Het
Sin3a	G	A	9: 57,005,185 (GRCm39)	V362M	probably damaging	Het
Slc6a7	C	T	18: 61,134,363 (GRCm39)		probably null	Het
Smc6	A	T	12: 11,349,264 (GRCm39)	D749V	possibly damaging	Het
Smg5	C	T	3: 88,258,735 (GRCm39)	Q569*	probably null	Het
Sspo	G	A	6: 48,466,970 (GRCm39)	C4130Y	probably damaging	Het
Tlcd3a	T	C	11: 76,098,817 (GRCm39)	F164L	probably damaging	Het
Tnn	A	T	1: 159,925,776 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,250,899 (GRCm39)	D1199E	probably benign	Het
Usp33	A	G	3: 152,079,046 (GRCm39)	K433E	probably benign	Het
Vmn2r89	A	G	14: 51,692,422 (GRCm39)	Y75C	probably damaging	Het
Wnt7a	C	T	6: 91,342,973 (GRCm39)	G303D	probably damaging	Het

Other mutations in Tomt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5737:Tomt	UTSW	7	101,549,524 (GRCm39)	missense	probably benign
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

Posted On

2012-04-20