Incidental Mutation 'IGL00433:Tomt'
ID5194
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tomt
Ensembl Gene ENSMUSG00000078630
Gene Nametransmembrane O-methyltransferase
SynonymsComt2, F930017I19Rik
Accession Numbers

Genbank: NM_001081679; MGI: 3707696

Is this an essential gene? Not available question?
Stock #IGL00433
Quality Score
Status
Chromosome7
Chromosomal Location101898370-101906359 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 101902186 bp
ZygosityHeterozygous
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] [ENSMUST00000106978] [ENSMUST00000143835] [ENSMUST00000144207] [ENSMUST00000178851] [ENSMUST00000193465] [ENSMUST00000209334] [ENSMUST00000210984]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000032884
Predicted Effect probably benign
Transcript: ENSMUST00000033131
SMART Domains Protein: ENSMUSP00000033131
Gene: ENSMUSG00000030842

DomainStartEndE-ValueType
LAMTOR 15 90 1.48e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000035395
SMART Domains Protein: ENSMUSP00000040286
Gene: ENSMUSG00000030649

DomainStartEndE-ValueType
Pfam:ANAPC15 21 115 9.5e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098237
SMART Domains Protein: ENSMUSP00000095839
Gene: ENSMUSG00000030649

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:ANAPC15 1 95 2.8e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106978
SMART Domains Protein: ENSMUSP00000102591
Gene: ENSMUSG00000030649

DomainStartEndE-ValueType
Pfam:ANAPC15 12 106 3.7e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137949
Predicted Effect probably benign
Transcript: ENSMUST00000143835
SMART Domains Protein: ENSMUSP00000120373
Gene: ENSMUSG00000030649

DomainStartEndE-ValueType
Pfam:ANAPC15 12 106 6.8e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144207
SMART Domains Protein: ENSMUSP00000114771
Gene: ENSMUSG00000030649

DomainStartEndE-ValueType
Pfam:ANAPC15 12 106 3.7e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146286
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150018
Predicted Effect probably benign
Transcript: ENSMUST00000178851
SMART Domains Protein: ENSMUSP00000136164
Gene: ENSMUSG00000030649

DomainStartEndE-ValueType
Pfam:ANAPC15 12 106 3.7e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193465
SMART Domains Protein: ENSMUSP00000141774
Gene: ENSMUSG00000030842

DomainStartEndE-ValueType
LAMTOR 15 90 1.1e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209334
Predicted Effect probably benign
Transcript: ENSMUST00000210984
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G A 15: 94,394,641 A196V probably benign Het
BC024139 A G 15: 76,125,100 V238A probably benign Het
Bfar G A 16: 13,698,963 D350N probably benign Het
C4b A T 17: 34,742,041 F217Y possibly damaging Het
Camk1g T C 1: 193,347,349 probably benign Het
Camkmt A G 17: 85,096,666 probably benign Het
Cass4 T C 2: 172,416,250 L56P probably damaging Het
Ccs A G 19: 4,825,608 I243T possibly damaging Het
Cds2 T C 2: 132,297,293 V152A probably damaging Het
Chd1l T C 3: 97,590,605 N307D probably damaging Het
Cmtm2b T C 8: 104,330,446 I146T possibly damaging Het
Cntnap3 T C 13: 64,772,731 Y608C probably damaging Het
Cog5 A G 12: 31,685,704 R157G probably damaging Het
Csmd1 A C 8: 16,231,373 F713V probably damaging Het
Csrp3 T C 7: 48,830,692 N175D probably benign Het
Exoc4 A G 6: 33,296,788 D176G probably damaging Het
Fam57a T C 11: 76,207,991 F164L probably damaging Het
Fbxo10 T C 4: 45,058,684 D351G probably damaging Het
Gm12185 A T 11: 48,907,222 S815T probably benign Het
Gpld1 A G 13: 24,986,922 probably benign Het
Hspa2 T C 12: 76,406,349 C606R possibly damaging Het
Leo1 C T 9: 75,450,480 probably benign Het
Mta3 C T 17: 83,708,432 P21L probably damaging Het
Pkn1 T C 8: 83,681,006 E471G probably damaging Het
Postn C T 3: 54,373,728 R425C probably damaging Het
Reln A G 5: 22,045,009 L676P probably damaging Het
Sin3a G A 9: 57,097,901 V362M probably damaging Het
Slc6a7 C T 18: 61,001,291 probably null Het
Smc6 A T 12: 11,299,263 D749V possibly damaging Het
Smg5 C T 3: 88,351,428 Q569* probably null Het
Sspo G A 6: 48,490,036 C4130Y probably damaging Het
Tnn A T 1: 160,098,206 probably benign Het
Uggt2 A T 14: 119,013,487 D1199E probably benign Het
Usp33 A G 3: 152,373,409 K433E probably benign Het
Vmn2r89 A G 14: 51,454,965 Y75C probably damaging Het
Wnt7a C T 6: 91,365,991 G303D probably damaging Het
Other mutations in Tomt
AlleleSourceChrCoordTypePredicted EffectPPH Score
add UTSW 7 101902129 missense probably damaging 1.00
R1913:Tomt UTSW 7 101901247 missense probably damaging 1.00
R5737:Tomt UTSW 7 101900317 missense probably benign
R6527:Tomt UTSW 7 101900392 missense probably damaging 1.00
R7414:Tomt UTSW 7 101900508 missense probably damaging 1.00
X0018:Tomt UTSW 7 101900571 missense probably benign 0.05
Posted On2012-04-20