Incidental Mutation 'IGL03063:Comtd1'
ID409555
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Comtd1
Ensembl Gene ENSMUSG00000021773
Gene Namecatechol-O-methyltransferase domain containing 1
SynonymsMT773, 1810030M08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.209) question?
Stock #IGL03063
Quality Score
Status
Chromosome14
Chromosomal Location21845855-21848977 bp(-) (GRCm38)
Type of Mutationsplice site (2430 bp from exon)
DNA Base Change (assembly) A to G at 21847667 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022293] [ENSMUST00000124549] [ENSMUST00000172727] [ENSMUST00000173456] [ENSMUST00000177527]
Predicted Effect probably null
Transcript: ENSMUST00000022293
SMART Domains Protein: ENSMUSP00000022293
Gene: ENSMUSG00000021771

DomainStartEndE-ValueType
Pfam:Porin_3 15 288 4.5e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000022295
Predicted Effect probably damaging
Transcript: ENSMUST00000124549
AA Change: Y195H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119330
Gene: ENSMUSG00000021773
AA Change: Y195H

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:Methyltransf_3 59 262 2.7e-58 PFAM
Pfam:Methyltransf_18 102 213 5.5e-9 PFAM
Pfam:Methyltransf_24 107 210 3.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170150
Predicted Effect probably null
Transcript: ENSMUST00000172727
SMART Domains Protein: ENSMUSP00000133525
Gene: ENSMUSG00000021771

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 6.4e-80 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000173456
SMART Domains Protein: ENSMUSP00000134023
Gene: ENSMUSG00000021771

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 6.4e-80 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177527
AA Change: Y133H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134830
Gene: ENSMUSG00000021773
AA Change: Y133H

DomainStartEndE-ValueType
Pfam:Methyltransf_3 1 200 1.6e-64 PFAM
Pfam:Methyltransf_18 40 150 4.2e-10 PFAM
Pfam:Methyltransf_24 45 148 1.1e-15 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 46,016,432 V255I probably benign Het
Arfgef2 T C 2: 166,859,782 probably benign Het
Bpifb2 A T 2: 153,889,124 Q205L probably damaging Het
Ccdc30 C T 4: 119,349,767 R386Q possibly damaging Het
Cdk5rap2 T A 4: 70,354,877 probably null Het
Dao T C 5: 114,021,015 C261R probably damaging Het
Dner A G 1: 84,585,338 V187A possibly damaging Het
Dsg3 T C 18: 20,533,368 probably benign Het
Eif3j2 A G 18: 43,477,379 L123P possibly damaging Het
Esf1 G A 2: 140,154,786 probably benign Het
Exo5 G A 4: 120,921,633 T345I possibly damaging Het
Fancl A T 11: 26,387,299 I29F probably damaging Het
Gadl1 C T 9: 115,966,267 H313Y probably damaging Het
Gm17190 G A 13: 96,082,762 probably benign Het
Gtf3c1 G T 7: 125,646,503 T1580N possibly damaging Het
Gtf3c6 T A 10: 40,251,159 I66L probably benign Het
Hhla1 A G 15: 65,941,790 I231T probably damaging Het
Hk2 A G 6: 82,739,649 Y273H probably damaging Het
Hk2 A G 6: 82,749,232 I83T probably benign Het
Ifit1 T C 19: 34,648,004 V180A possibly damaging Het
Igkv9-129 A T 6: 67,840,188 D92V probably damaging Het
Lrrc1 A G 9: 77,499,269 F36S probably damaging Het
Man1b1 A G 2: 25,334,404 E102G possibly damaging Het
Myh8 A G 11: 67,288,205 S475G probably benign Het
Olfr593 T A 7: 103,212,634 V247D probably damaging Het
Otud4 T A 8: 79,663,790 M343K probably benign Het
Peg10 A T 6: 4,756,647 probably benign Het
Plet1 T A 9: 50,504,422 N197K probably benign Het
Ppp1r12a C T 10: 108,261,254 R243C probably damaging Het
Serpinb10 A T 1: 107,542,227 K146N possibly damaging Het
Sis A G 3: 72,928,297 F911L probably benign Het
Spon1 G A 7: 114,033,025 V528M possibly damaging Het
Tdrd9 T C 12: 112,044,299 V1100A probably benign Het
Tmtc3 T C 10: 100,447,606 M696V probably benign Het
Triobp A G 15: 78,990,884 E122G probably damaging Het
Wt1 G A 2: 105,170,023 probably null Het
Other mutations in Comtd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03068:Comtd1 APN 14 21847643 missense probably damaging 1.00
R1694:Comtd1 UTSW 14 21847330 missense probably damaging 1.00
R1887:Comtd1 UTSW 14 21847741 missense probably damaging 1.00
R1925:Comtd1 UTSW 14 21847663 missense probably damaging 1.00
R2153:Comtd1 UTSW 14 21848272 missense possibly damaging 0.81
R2920:Comtd1 UTSW 14 21847618 missense possibly damaging 0.47
R4923:Comtd1 UTSW 14 21848745 unclassified probably benign
R5053:Comtd1 UTSW 14 21847696 missense probably damaging 1.00
R5265:Comtd1 UTSW 14 21848793 missense probably benign 0.06
R5478:Comtd1 UTSW 14 21848913 unclassified probably benign
R5849:Comtd1 UTSW 14 21848120 missense probably damaging 1.00
R6147:Comtd1 UTSW 14 21848815 missense probably damaging 1.00
R8041:Comtd1 UTSW 14 21847917 missense probably benign 0.15
RF016:Comtd1 UTSW 14 21848596 missense probably benign 0.41
Posted On2016-08-02