Mutagenetix > Incidental Mutation

Incidental Mutation 'R1913:Tomt'

214565

Institutional Source

Beutler Lab

Gene Symbol

Tomt

Ensembl Gene

ENSMUSG00000078630

Gene Name

transmembrane O-methyltransferase

Synonyms

Comt2, F930017I19Rik

MMRRC Submission

039931-MU

Accession Numbers

Essential gene?

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

Stock #

R1913 (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 101550454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 104 (E104G)

Ref Sequence

ENSEMBL: ENSMUSP00000102583 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000106969
AA Change: E104G

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

SMART Domains

Protein: ENSMUSP00000102582
Gene: ENSMUSG00000078630
AA Change: E104G

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: E104G

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

SMART Domains

Protein: ENSMUSP00000102583
Gene: ENSMUSG00000078630
AA Change: E104G

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: ENSMUST00000146286

Predicted Effect

probably benign
Transcript: ENSMUST00000210984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150018

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

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: ENSMUST00000193465

SMART Domains

Protein: ENSMUSP00000141774
Gene: ENSMUSG00000030842

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

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: ENSMUST00000144207

SMART Domains

Protein: ENSMUSP00000114771
Gene: ENSMUSG00000030649

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

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,140,463 (GRCm39)	I1588F	probably benign	Het
Abcc2	A	T	19: 43,795,683 (GRCm39)	T480S	probably benign	Het
Acnat1	A	G	4: 49,447,498 (GRCm39)	I361T	probably damaging	Het
Adamts10	A	T	17: 33,768,529 (GRCm39)	H869L	probably benign	Het
Agpat5	T	C	8: 18,929,629 (GRCm39)	C253R	probably benign	Het
Agtrap	T	A	4: 148,168,434 (GRCm39)	H15L	probably damaging	Het
Ahnak	T	A	19: 8,985,286 (GRCm39)	V2190E	probably damaging	Het
Alx4	A	G	2: 93,505,732 (GRCm39)	E278G	probably damaging	Het
Amz2	T	C	11: 109,319,697 (GRCm39)	S28P	probably damaging	Het
Atr	T	A	9: 95,748,786 (GRCm39)	Y444N	probably benign	Het
Brdt	T	C	5: 107,496,479 (GRCm39)	I197T	probably benign	Het
Ccser1	G	T	6: 62,356,878 (GRCm39)	S772I	probably damaging	Het
Cdh16	T	C	8: 105,343,100 (GRCm39)	H657R	probably benign	Het
Ceacam5	A	T	7: 17,493,502 (GRCm39)	K842*	probably null	Het
Cep120	G	A	18: 53,856,358 (GRCm39)	T353I	probably benign	Het
Chrnb1	T	C	11: 69,684,410 (GRCm39)	N164S	possibly damaging	Het
Cse1l	T	C	2: 166,764,111 (GRCm39)	F123L	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dcx	G	C	X: 142,706,099 (GRCm39)	L231V	probably damaging	Het
Dnah12	T	C	14: 26,514,221 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,355,756 (GRCm39)	M2227K	probably damaging	Het
Dnajc30	G	A	5: 135,093,186 (GRCm39)	A28T	probably benign	Het
Dnm1l	T	C	16: 16,147,830 (GRCm39)	T306A	probably benign	Het
Elapor2	T	G	5: 9,316,275 (GRCm39)	L2R	probably damaging	Het
Enpp3	C	A	10: 24,652,669 (GRCm39)	E763*	probably null	Het
Esyt3	T	C	9: 99,202,364 (GRCm39)	S516G	probably benign	Het
Exoc3	T	C	13: 74,330,435 (GRCm39)	Q498R	probably damaging	Het
Fbn2	T	A	18: 58,194,814 (GRCm39)	N1449I	probably damaging	Het
Fgb	T	C	3: 82,952,287 (GRCm39)	D194G	probably benign	Het
Fgd3	T	C	13: 49,417,324 (GRCm39)	D713G	possibly damaging	Het
Foxb1	T	A	9: 69,667,383 (GRCm39)	Y49F	possibly damaging	Het
Fpr3	A	G	17: 18,191,670 (GRCm39)	I314V	probably damaging	Het
Gfod1	A	T	13: 43,456,921 (GRCm39)	I18N	probably damaging	Het
Gm5407	T	C	16: 49,117,283 (GRCm39)		noncoding transcript	Het
Gpr89	A	G	3: 96,782,949 (GRCm39)	F334L	possibly damaging	Het
Gucy2d	G	T	7: 98,093,054 (GRCm39)	V144F	probably benign	Het
H2-M10.5	C	A	17: 37,085,660 (GRCm39)	P273H	probably damaging	Het
H2-T13	T	A	17: 36,391,908 (GRCm39)	K237M	probably damaging	Het
Hcn2	A	G	10: 79,566,777 (GRCm39)	M485V	probably benign	Het
Helz2	G	T	2: 180,875,543 (GRCm39)	S1650R	probably damaging	Het
Ifnar2	T	C	16: 91,201,058 (GRCm39)	V433A	probably benign	Het
Igsf21	T	A	4: 139,834,623 (GRCm39)	Y83F	probably benign	Het
Kcnk18	A	G	19: 59,223,490 (GRCm39)	I212V	possibly damaging	Het
Kcns2	T	C	15: 34,839,855 (GRCm39)	I406T	probably damaging	Het
Krt42	C	T	11: 100,158,075 (GRCm39)	V166M	possibly damaging	Het
Lama3	T	C	18: 12,628,336 (GRCm39)	M1476T	probably benign	Het
Lcor	A	G	19: 41,546,913 (GRCm39)	R166G	probably benign	Het
Mapt	C	T	11: 104,218,901 (GRCm39)	P354L	probably damaging	Het
Mep1b	A	T	18: 21,226,286 (GRCm39)	I383F	probably benign	Het
Mpzl1	C	A	1: 165,429,374 (GRCm39)	C222F	probably benign	Het
Mug2	T	C	6: 122,047,829 (GRCm39)	L780P	probably damaging	Het
Naip2	C	T	13: 100,288,665 (GRCm39)		probably null	Het
Ndufab1	T	C	7: 121,695,914 (GRCm39)	D41G	probably benign	Het
Ntn1	A	G	11: 68,104,011 (GRCm39)	C546R	probably damaging	Het
Or2a5	T	A	6: 42,873,687 (GRCm39)	F101I	probably damaging	Het
Pakap	A	G	4: 57,892,963 (GRCm39)	E880G	probably damaging	Het
Pde6b	A	G	5: 108,575,056 (GRCm39)	E639G	probably benign	Het
Phf10	T	C	17: 15,177,071 (GRCm39)	T83A	probably benign	Het
Phkb	T	A	8: 86,628,549 (GRCm39)	I186N	possibly damaging	Het
Pkhd1	A	G	1: 20,636,980 (GRCm39)		probably null	Het
Plxnd1	C	A	6: 115,954,978 (GRCm39)	A595S	possibly damaging	Het
Ppara	T	A	15: 85,685,300 (GRCm39)	H416Q	probably damaging	Het
Prodh	T	A	16: 17,898,891 (GRCm39)	D188V	probably damaging	Het
Psmd14	A	T	2: 61,615,800 (GRCm39)	K223M	possibly damaging	Het
Ptpn5	A	G	7: 46,728,616 (GRCm39)	M528T	possibly damaging	Het
Rassf9	G	A	10: 102,380,800 (GRCm39)	E59K	probably benign	Het
Rnf2	A	T	1: 151,351,936 (GRCm39)	L140H	probably damaging	Het
Scai	A	G	2: 38,970,093 (GRCm39)	F557S	probably damaging	Het
Sdk2	A	G	11: 113,747,552 (GRCm39)	S653P	possibly damaging	Het
Sec24c	A	G	14: 20,739,179 (GRCm39)	D534G	probably benign	Het
Semp2l2a	T	A	8: 13,887,143 (GRCm39)	Q316L	probably benign	Het
Septin4	T	C	11: 87,457,838 (GRCm39)	S71P	probably benign	Het
Serinc1	A	G	10: 57,395,561 (GRCm39)	V375A	probably benign	Het
Serpinb9f	C	T	13: 33,509,829 (GRCm39)	A7V	probably damaging	Het
Smco1	T	C	16: 32,092,700 (GRCm39)	S124P	probably damaging	Het
Smim23	C	A	11: 32,774,441 (GRCm39)	C26F	possibly damaging	Het
Sppl2c	T	A	11: 104,078,715 (GRCm39)	M505K	probably benign	Het
Sprr1b	C	A	3: 92,344,775 (GRCm39)	V34F	possibly damaging	Het
Sun1	G	A	5: 139,221,487 (GRCm39)		probably null	Het
Supt16	A	G	14: 52,415,592 (GRCm39)	L381P	possibly damaging	Het
Syne2	A	G	12: 75,946,020 (GRCm39)	D364G	possibly damaging	Het
Tax1bp1	G	T	6: 52,742,937 (GRCm39)	V775F	probably damaging	Het
Tial1	T	A	7: 128,046,383 (GRCm39)	I231F	probably damaging	Het
Tiam1	C	A	16: 89,595,582 (GRCm39)	V1300L	probably damaging	Het
Tmem132e	A	G	11: 82,334,243 (GRCm39)	T585A	probably damaging	Het
Tnni3k	C	T	3: 154,684,836 (GRCm39)	A165T	probably benign	Het
Tomm40	A	T	7: 19,444,886 (GRCm39)	I165N	probably damaging	Het
Topaz1	T	C	9: 122,596,078 (GRCm39)	S950P	possibly damaging	Het
Traf3ip2	C	G	10: 39,501,936 (GRCm39)	P28R	probably benign	Het
Trim24	C	T	6: 37,934,750 (GRCm39)	P822S	probably damaging	Het
Upf3a	T	G	8: 13,842,108 (GRCm39)	Y175D	probably damaging	Het
Vars2	G	A	17: 35,977,814 (GRCm39)	P69S	probably benign	Het
Veph1	T	C	3: 66,151,976 (GRCm39)	Y151C	probably damaging	Het
Vmn2r11	T	A	5: 109,202,654 (GRCm39)	D141V	probably benign	Het
Vwa5b1	G	A	4: 138,319,331 (GRCm39)	Q442*	probably null	Het
Wdr17	T	A	8: 55,140,761 (GRCm39)	D197V	probably damaging	Het
Wdr70	G	T	15: 7,913,891 (GRCm39)	T586N	possibly damaging	Het
Wfdc18	G	A	11: 83,600,754 (GRCm39)	G52R	probably benign	Het
Zc3h6	T	C	2: 128,858,540 (GRCm39)	I857T	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	17: 46,723,440 (GRCm39)		probably benign	Het
Zfp318	GAAGAA	GAAGAACAAGAA	17: 46,723,450 (GRCm39)		probably benign	Het
Zfp647	C	T	15: 76,796,151 (GRCm39)	V170I	probably benign	Het
Zfp871	T	C	17: 32,994,891 (GRCm39)	N76D	possibly damaging	Het
Zpld2	A	G	4: 133,919,986 (GRCm39)		probably null	Het
Zwilch	A	G	9: 64,068,234 (GRCm39)	Y194H	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TTCCTGGGATAGCTGAAGAGATC -3'
(R):5'- AAGGTAGGGTGGATATTTCGCC -3'

Sequencing Primer
(F):5'- ATCAGCGTTGGGGCGATAG -3'
(R):5'- CTAAACTGAGACTGGAAGGCTTCTC -3'

Posted On

2014-07-14