Incidental Mutation 'R5265:Comtd1'
ID 401672
Institutional Source Beutler Lab
Gene Symbol Comtd1
Ensembl Gene ENSMUSG00000021773
Gene Name catechol-O-methyltransferase domain containing 1
Synonyms MT773, 1810030M08Rik
MMRRC Submission 042833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R5265 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 21895929-21898978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21898861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 27 (T27I)
Ref Sequence ENSEMBL: ENSMUSP00000119330 (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 benign
Transcript: ENSMUST00000124549
AA Change: T27I

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000119330
Gene: ENSMUSG00000021773
AA Change: T27I

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 benign
Transcript: ENSMUST00000177527
SMART Domains Protein: ENSMUSP00000134830
Gene: ENSMUSG00000021773

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
Meta Mutation Damage Score 0.1192 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,177 (GRCm39) W66R probably damaging Het
Adamts3 A G 5: 90,009,411 (GRCm39) V84A possibly damaging Het
Caap1 C A 4: 94,389,465 (GRCm39) E290* probably null Het
Cant1 G A 11: 118,298,876 (GRCm39) R296C probably damaging Het
Cdh5 A T 8: 104,869,371 (GRCm39) H699L probably benign Het
Cfdp1 T C 8: 112,557,617 (GRCm39) T175A probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Copg1 T A 6: 87,869,252 (GRCm39) V155D probably damaging Het
Dag1 A G 9: 108,084,898 (GRCm39) Y748H possibly damaging Het
Dmwd T A 7: 18,814,206 (GRCm39) N285K possibly damaging Het
Dsp A G 13: 38,379,159 (GRCm39) E1968G possibly damaging Het
Ednra A G 8: 78,394,004 (GRCm39) I364T probably damaging Het
Elovl3 C A 19: 46,123,120 (GRCm39) T232K probably damaging Het
Ercc3 T A 18: 32,387,296 (GRCm39) I503N probably damaging Het
Ercc6 C A 14: 32,291,580 (GRCm39) A1008D probably benign Het
Gm10563 TTTC TTTCATTC 4: 155,698,953 (GRCm39) probably null Het
H2-DMb2 G T 17: 34,367,536 (GRCm39) V117F probably damaging Het
Helt A T 8: 46,745,470 (GRCm39) W138R probably damaging Het
Itga11 A T 9: 62,644,694 (GRCm39) H215L probably benign Het
Kcnn1 T A 8: 71,307,297 (GRCm39) I156F probably benign Het
Kdm1b A G 13: 47,216,445 (GRCm39) N272D probably benign Het
Kdm2b T C 5: 123,016,651 (GRCm39) T1161A probably damaging Het
Lin54 A G 5: 100,633,378 (GRCm39) L102P probably damaging Het
Mlh1 A C 9: 111,100,591 (GRCm39) M1R probably null Het
Naip2 G A 13: 100,289,068 (GRCm39) L1165F probably damaging Het
Nfkbiz A G 16: 55,640,004 (GRCm39) S118P probably damaging Het
Nkx3-2 T A 5: 41,919,191 (GRCm39) M266L probably benign Het
Npr1 T C 3: 90,364,309 (GRCm39) E771G probably benign Het
Obox8 C T 7: 14,065,954 (GRCm39) R188H probably benign Het
Odad1 T A 7: 45,596,859 (GRCm39) D395E probably damaging Het
Or5h19 A T 16: 58,856,506 (GRCm39) V198D possibly damaging Het
Or5p72 T A 7: 108,022,609 (GRCm39) V277E possibly damaging Het
Palm3 T C 8: 84,748,159 (GRCm39) probably null Het
Palmd A T 3: 116,717,498 (GRCm39) V333D possibly damaging Het
Pikfyve A G 1: 65,306,988 (GRCm39) E1747G possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ranbp3l T A 15: 9,037,077 (GRCm39) F127I probably benign Het
Rsl1d1 A G 16: 11,019,248 (GRCm39) F97L possibly damaging Het
Scaper A G 9: 55,771,830 (GRCm39) V362A probably benign Het
Scg5 A T 2: 113,607,210 (GRCm39) L192* probably null Het
Slc34a2 T C 5: 53,218,776 (GRCm39) I198T probably damaging Het
Slc45a3 T A 1: 131,905,932 (GRCm39) D318E possibly damaging Het
Sorl1 A G 9: 42,017,812 (GRCm39) M105T possibly damaging Het
St3gal5 T A 6: 72,126,115 (GRCm39) I320N probably damaging Het
Stx17 A G 4: 48,183,470 (GRCm39) probably benign Het
Syt5 C T 7: 4,544,074 (GRCm39) probably null Het
Thrap3 A G 4: 126,061,433 (GRCm39) S774P probably damaging Het
Tnc A T 4: 63,911,443 (GRCm39) M1376K probably benign Het
Tnks1bp1 T A 2: 84,893,098 (GRCm39) D1008E probably benign Het
Trav7-1 G T 14: 52,892,761 (GRCm39) A105S probably damaging Het
Vmn1r28 T A 6: 58,242,949 (GRCm39) V264D probably damaging Het
Vmn1r44 T C 6: 89,870,821 (GRCm39) V46A probably benign Het
Vmn2r10 A G 5: 109,143,586 (GRCm39) I788T probably damaging Het
Vmn2r78 T A 7: 86,569,332 (GRCm39) I75N probably damaging Het
Zfp821 T C 8: 110,450,991 (GRCm39) M328T probably damaging Het
Zfp995 G A 17: 22,099,604 (GRCm39) P210L possibly 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
R5053:Comtd1 UTSW 14 21,897,764 (GRCm39) missense probably damaging 1.00
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'- GATACTGCCACAGGGGATTGTC -3'
(R):5'- AATACGGCCATGTGTCACC -3'

Sequencing Primer
(F):5'- ATTGTCCTCAGGTGGCAGCAG -3'
(R):5'- ATACGGCCATGTGTCACCAGATG -3'
Posted On 2016-07-06