Incidental Mutation 'R5053:Comtd1'
ID 394769
Institutional Source Beutler Lab
Gene Symbol Comtd1
Ensembl Gene ENSMUSG00000021773
Gene Name catechol-O-methyltransferase domain containing 1
Synonyms MT773, 1810030M08Rik
MMRRC Submission 042643-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R5053 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 21895929-21898978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21897764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 123 (D123G)
Ref Sequence ENSEMBL: ENSMUSP00000134830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022293] [ENSMUST00000124549] [ENSMUST00000177527] [ENSMUST00000172727] [ENSMUST00000173456]
AlphaFold Q8BIG7
Predicted Effect probably benign
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: D185G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119330
Gene: ENSMUSG00000021773
AA Change: D185G

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 damaging
Transcript: ENSMUST00000177527
AA Change: D123G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134830
Gene: ENSMUSG00000021773
AA Change: D123G

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
Predicted Effect probably benign
Transcript: ENSMUST00000172727
SMART Domains Protein: ENSMUSP00000133525
Gene: ENSMUSG00000021771

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

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 6.4e-80 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 A T 15: 101,035,250 (GRCm39) I259F probably damaging Het
Adgrf2 A G 17: 43,021,334 (GRCm39) S497P probably damaging Het
Adsl T C 15: 80,844,651 (GRCm39) C180R probably damaging Het
Ahctf1 A G 1: 179,614,349 (GRCm39) I448T possibly damaging Het
Alg9 G T 9: 50,699,472 (GRCm39) G200W probably damaging Het
Amhr2 G A 15: 102,355,693 (GRCm39) V213I probably damaging Het
Ankrd44 A T 1: 54,774,248 (GRCm39) L200* probably null Het
As3mt A G 19: 46,697,493 (GRCm39) Y87C probably damaging Het
Bcl11a C A 11: 24,114,068 (GRCm39) F470L probably benign Het
Cacna2d2 A T 9: 107,392,063 (GRCm39) Y468F probably damaging Het
Cep250 A G 2: 155,804,848 (GRCm39) D71G possibly damaging Het
Clca4b T C 3: 144,616,882 (GRCm39) T923A probably benign Het
Clec16a T C 16: 10,394,461 (GRCm39) L273P probably damaging Het
Cpa5 A T 6: 30,623,271 (GRCm39) E144V probably damaging Het
Cyp2c37 G A 19: 39,990,331 (GRCm39) S343N probably benign Het
Dennd6a C A 14: 26,329,738 (GRCm39) T103K probably damaging Het
Ect2l A G 10: 18,016,093 (GRCm39) L733P probably damaging Het
Erg T A 16: 95,325,393 (GRCm39) H11L probably benign Het
Ero1b T C 13: 12,614,795 (GRCm39) L253P probably damaging Het
Etfbkmt T A 6: 149,048,766 (GRCm39) L135* probably null Het
Frmd4a A T 2: 4,608,732 (GRCm39) T867S probably damaging Het
Gm815 C T 19: 26,863,813 (GRCm39) A18V unknown Het
Gna12 C A 5: 140,746,482 (GRCm39) R321L probably benign Het
Herc1 A T 9: 66,377,608 (GRCm39) K3458M possibly damaging Het
Irs1 A G 1: 82,264,643 (GRCm39) L1191P probably benign Het
Kcp G T 6: 29,496,957 (GRCm39) Q551K probably benign Het
Klhl11 C T 11: 100,363,026 (GRCm39) V177M probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Llcfc1 A G 6: 41,662,269 (GRCm39) H91R possibly damaging Het
Lmnb2 A T 10: 80,740,489 (GRCm39) M223K probably damaging Het
Mbd6 C T 10: 127,122,310 (GRCm39) V173I probably benign Het
Mme T A 3: 63,272,270 (GRCm39) V623E probably damaging Het
Ndc1 T C 4: 107,231,415 (GRCm39) S119P probably damaging Het
Nfs1 A C 2: 155,968,318 (GRCm39) C383G probably damaging Het
Nphp4 A G 4: 152,628,919 (GRCm39) probably null Het
Oca2 C A 7: 55,973,328 (GRCm39) Q411K probably benign Het
Or10ab4 A G 7: 107,654,741 (GRCm39) H184R probably benign Het
Or11h23 T A 14: 50,947,968 (GRCm39) Y60* probably null Het
Or1ad1 G A 11: 50,876,137 (GRCm39) G203D probably damaging Het
Or4c15 C A 2: 88,760,597 (GRCm39) V21F probably benign Het
Or8k25 A G 2: 86,243,682 (GRCm39) F238S probably damaging Het
Pcdh7 A T 5: 57,878,943 (GRCm39) T493S probably damaging Het
Phf20 T C 2: 156,115,782 (GRCm39) S368P probably benign Het
Pla2g2e T G 4: 138,607,686 (GRCm39) V22G possibly damaging Het
Plxna1 A T 6: 89,299,442 (GRCm39) H1736Q probably damaging Het
Prlr C A 15: 10,325,471 (GRCm39) Q215K probably benign Het
Prpf6 T C 2: 181,291,246 (GRCm39) V687A probably benign Het
Ptprq T A 10: 107,399,063 (GRCm39) T1951S probably damaging Het
Sec31a G T 5: 100,541,073 (GRCm39) Q345K possibly damaging Het
Serpina3k T C 12: 104,309,473 (GRCm39) probably null Het
Sertad3 T A 7: 27,175,947 (GRCm39) V127E probably benign Het
Sf3b1 A T 1: 55,036,336 (GRCm39) N912K probably benign Het
Shq1 A G 6: 100,632,220 (GRCm39) L202P probably damaging Het
Sp8 C T 12: 118,813,339 (GRCm39) T398M probably damaging Het
Tmem150c A T 5: 100,231,599 (GRCm39) D125E probably benign Het
Trim3 G T 7: 105,266,968 (GRCm39) D470E probably damaging Het
Ubap1 T A 4: 41,387,315 (GRCm39) C88* probably null Het
Unc79 T A 12: 103,071,007 (GRCm39) D1124E probably damaging Het
Usf3 T C 16: 44,037,550 (GRCm39) S677P probably benign Het
Vmn1r76 T C 7: 11,664,241 (GRCm39) probably null Het
Zfp819 C T 7: 43,266,570 (GRCm39) T275I probably damaging Het
Zranb2 T A 3: 157,246,796 (GRCm39) D161E probably damaging Het
Other mutations in Comtd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03063:Comtd1 APN 14 21,897,735 (GRCm39) splice site probably null
IGL03068:Comtd1 APN 14 21,897,711 (GRCm39) missense probably damaging 1.00
R1694:Comtd1 UTSW 14 21,897,398 (GRCm39) missense probably damaging 1.00
R1887:Comtd1 UTSW 14 21,897,809 (GRCm39) missense probably damaging 1.00
R1925:Comtd1 UTSW 14 21,897,731 (GRCm39) missense probably damaging 1.00
R2153:Comtd1 UTSW 14 21,898,340 (GRCm39) missense possibly damaging 0.81
R2920:Comtd1 UTSW 14 21,897,686 (GRCm39) missense possibly damaging 0.47
R4923:Comtd1 UTSW 14 21,898,813 (GRCm39) unclassified probably benign
R5265:Comtd1 UTSW 14 21,898,861 (GRCm39) missense probably benign 0.06
R5478:Comtd1 UTSW 14 21,898,981 (GRCm39) unclassified probably benign
R5849:Comtd1 UTSW 14 21,898,188 (GRCm39) missense probably damaging 1.00
R6147:Comtd1 UTSW 14 21,898,883 (GRCm39) missense probably damaging 1.00
R8041:Comtd1 UTSW 14 21,897,985 (GRCm39) missense probably benign 0.15
R9390:Comtd1 UTSW 14 21,898,867 (GRCm39) missense possibly damaging 0.94
RF016:Comtd1 UTSW 14 21,898,664 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- GGGACCTATGATACTCTGGGTG -3'
(R):5'- AGAAGATCGACCTTCGGCTG -3'

Sequencing Primer
(F):5'- CCTATGATACTCTGGGTGGGCTTTG -3'
(R):5'- CTGCAGACATTGGGTGAGCAC -3'
Posted On 2016-06-15