Mutagenetix > Incidental Mutation

Incidental Mutation 'R6527:Tomt'

521973

Institutional Source

Beutler Lab

Gene Symbol

Tomt

Ensembl Gene

ENSMUSG00000078630

Gene Name

transmembrane O-methyltransferase

Synonyms

Comt2, F930017I19Rik

MMRRC Submission

044653-MU

Accession Numbers

Essential gene?

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

Stock #

R6527 (G1)

Quality Score

213.009

Status

Not validated

Chromosome

Chromosomal Location

101549010-101555572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101549599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 230 (Y230H)

Ref Sequence

ENSEMBL: ENSMUSP00000102583 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000106969
AA Change: Y230H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102582
Gene: ENSMUSG00000078630
AA Change: Y230H

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 damaging
Transcript: ENSMUST00000106970
AA Change: Y230H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102583
Gene: ENSMUSG00000078630
AA Change: Y230H

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

probably benign
Transcript: ENSMUST00000210984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137949

Predicted Effect

probably benign
Transcript: ENSMUST00000209334

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

noncoding transcript
Transcript: ENSMUST00000150018

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

noncoding transcript
Transcript: ENSMUST00000131269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146286

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,288 (GRCm39)	T826A	probably damaging	Het
Abca16	T	A	7: 120,076,995 (GRCm39)	I686N	possibly damaging	Het
Abcb6	T	C	1: 75,154,132 (GRCm39)		probably null	Het
Adgrl3	A	C	5: 81,935,364 (GRCm39)	E1299A	probably damaging	Het
Amd2	A	C	10: 35,586,802 (GRCm39)	Y252D	probably damaging	Het
Cfap74	A	G	4: 155,506,722 (GRCm39)		probably null	Het
Dhx29	G	T	13: 113,069,076 (GRCm39)	K135N	probably damaging	Het
Dlg5	T	A	14: 24,240,516 (GRCm39)	D245V	possibly damaging	Het
Dscaml1	C	T	9: 45,623,482 (GRCm39)	Q83*	probably null	Het
Dsp	T	A	13: 38,379,849 (GRCm39)	L1599Q	probably damaging	Het
Duox2	A	G	2: 122,125,095 (GRCm39)	V369A	probably benign	Het
Flacc1	T	C	1: 58,731,572 (GRCm39)	M1V	probably null	Het
Gbe1	T	A	16: 70,230,560 (GRCm39)		probably null	Het
Gm7298	A	G	6: 121,746,669 (GRCm39)	K600R	probably benign	Het
Heatr4	C	T	12: 84,026,537 (GRCm39)	G240E	probably damaging	Het
Jakmip2	A	G	18: 43,689,589 (GRCm39)	V651A	possibly damaging	Het
Jam3	C	T	9: 27,066,640 (GRCm39)	R8Q	unknown	Het
Letm2	A	G	8: 26,082,522 (GRCm39)		probably benign	Het
Lmod3	T	C	6: 97,224,339 (GRCm39)	D494G	probably benign	Het
Mast2	T	C	4: 116,172,136 (GRCm39)	D604G	probably damaging	Het
Mif4gd	C	T	11: 115,500,101 (GRCm39)		probably null	Het
Msr1	T	C	8: 40,077,274 (GRCm39)	E112G	possibly damaging	Het
Mtus2	A	G	5: 148,214,408 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,753,433 (GRCm38)	H1103R	probably benign	Het
Nudt14	T	A	12: 112,898,507 (GRCm39)	I198F	possibly damaging	Het
Or11j4	T	A	14: 50,630,885 (GRCm39)	L224*	probably null	Het
Or13p3	T	A	4: 118,567,045 (GRCm39)	F147Y	possibly damaging	Het
Or1n1b	T	C	2: 36,780,594 (GRCm39)	T89A	probably benign	Het
Osbpl8	T	C	10: 111,129,066 (GRCm39)	I884T	probably benign	Het
Podxl2	T	C	6: 88,819,912 (GRCm39)	N550S	probably damaging	Het
Ppp1r9a	A	G	6: 5,045,949 (GRCm39)	Y151C	probably damaging	Het
Prss42	T	C	9: 110,629,924 (GRCm39)	V226A	possibly damaging	Het
Psmd12	A	G	11: 107,379,794 (GRCm39)	I116V	probably damaging	Het
Psme4	A	C	11: 30,782,175 (GRCm39)	I872L	probably benign	Het
Rab11fip1	A	T	8: 27,664,420 (GRCm39)	V65E	probably damaging	Het
Ros1	T	C	10: 52,019,473 (GRCm39)	N700S	possibly damaging	Het
Slc15a4	G	A	5: 127,673,773 (GRCm39)	T547M	probably damaging	Het
Slfn3	T	A	11: 83,103,932 (GRCm39)	C268S	probably benign	Het
Smc5	T	C	19: 23,205,554 (GRCm39)	Q794R	probably benign	Het
Sqor	A	G	2: 122,651,206 (GRCm39)	Y434C	probably damaging	Het
Steap4	T	A	5: 8,028,502 (GRCm39)	L360H	probably damaging	Het
Sycp1	A	G	3: 102,806,203 (GRCm39)	V496A	probably benign	Het
Tmem161b	T	G	13: 84,420,383 (GRCm39)	M128R	probably benign	Het
Tmem59l	T	C	8: 70,938,775 (GRCm39)	E102G	probably damaging	Het
Tnks	A	T	8: 35,340,247 (GRCm39)	V457D	probably benign	Het
Trim37	A	G	11: 87,080,910 (GRCm39)	N561D	probably damaging	Het
V1ra8	T	A	6: 90,180,295 (GRCm39)	I166K	probably damaging	Het
Vmn1r56	A	G	7: 5,199,575 (GRCm39)	V14A	probably benign	Het
Vsig8	T	C	1: 172,387,925 (GRCm39)	V5A	possibly damaging	Het
Vwa8	A	T	14: 79,184,653 (GRCm39)	S384C	possibly damaging	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Zfp984	T	C	4: 147,840,381 (GRCm39)	N157D	probably benign	Het
Zzef1	G	A	11: 72,765,816 (GRCm39)	D1448N	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
R5737:Tomt	UTSW	7	101,549,524 (GRCm39)	missense	probably benign
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'- TGACCATAGCATGTGTTGGATAC -3'
(R):5'- GCAGCTCAGAGGAAGTGATC -3'

Sequencing Primer
(F):5'- TACAAGACAGAGAGGGAAACG -3'
(R):5'- GTGATCCCACGCCTAAGAG -3'

Posted On

2018-06-06