Incidental Mutation 'IGL00684:Carnmt1'
ID 12414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Carnmt1
Ensembl Gene ENSMUSG00000024726
Gene Name carnosine N-methyltransferase 1
Synonyms 2410127L17Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.929) question?
Stock # IGL00684
Quality Score
Status
Chromosome 19
Chromosomal Location 18648128-18684564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18680746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 340 (E340G)
Ref Sequence ENSEMBL: ENSMUSP00000025632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025632]
AlphaFold Q80UY1
Predicted Effect possibly damaging
Transcript: ENSMUST00000025632
AA Change: E340G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025632
Gene: ENSMUSG00000024726
AA Change: E340G

DomainStartEndE-ValueType
low complexity region 28 46 N/A INTRINSIC
N2227 135 400 2.56e-169 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 G T 7: 16,295,625 (GRCm39) R1147S possibly damaging Het
Casp8 T C 1: 58,866,473 (GRCm39) probably null Het
Cntnap1 C T 11: 101,075,918 (GRCm39) A934V possibly damaging Het
Hoxd8 T C 2: 74,537,110 (GRCm39) V93A probably benign Het
Luc7l2 A G 6: 38,585,111 (GRCm39) probably benign Het
Nup42 C A 5: 24,387,041 (GRCm39) A277E possibly damaging Het
Sag A T 1: 87,752,146 (GRCm39) probably null Het
Senp1 A G 15: 97,962,719 (GRCm39) S322P probably damaging Het
Senp3 A G 11: 69,564,919 (GRCm39) V517A possibly damaging Het
Shprh A G 10: 11,038,781 (GRCm39) D512G probably benign Het
Syne1 T A 10: 5,342,167 (GRCm38) probably benign Het
Tut4 T C 4: 108,336,663 (GRCm39) M129T possibly damaging Het
Other mutations in Carnmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Carnmt1 APN 19 18,668,818 (GRCm39) missense probably benign 0.21
R0088:Carnmt1 UTSW 19 18,655,217 (GRCm39) missense probably benign 0.02
R1929:Carnmt1 UTSW 19 18,680,734 (GRCm39) missense probably damaging 1.00
R2270:Carnmt1 UTSW 19 18,680,734 (GRCm39) missense probably damaging 1.00
R2271:Carnmt1 UTSW 19 18,680,734 (GRCm39) missense probably damaging 1.00
R2272:Carnmt1 UTSW 19 18,680,734 (GRCm39) missense probably damaging 1.00
R2519:Carnmt1 UTSW 19 18,671,075 (GRCm39) missense probably benign 0.41
R4597:Carnmt1 UTSW 19 18,648,451 (GRCm39) missense probably damaging 1.00
R5030:Carnmt1 UTSW 19 18,668,950 (GRCm39) missense possibly damaging 0.82
R5114:Carnmt1 UTSW 19 18,655,098 (GRCm39) missense probably damaging 1.00
R5933:Carnmt1 UTSW 19 18,681,469 (GRCm39) missense probably benign 0.00
R7262:Carnmt1 UTSW 19 18,655,228 (GRCm39) missense probably benign 0.33
R7394:Carnmt1 UTSW 19 18,648,201 (GRCm39) start gained probably benign
X0024:Carnmt1 UTSW 19 18,655,068 (GRCm39) nonsense probably null
X0065:Carnmt1 UTSW 19 18,667,673 (GRCm39) missense probably benign 0.00
Z1176:Carnmt1 UTSW 19 18,681,454 (GRCm39) missense probably benign 0.27
Z1176:Carnmt1 UTSW 19 18,656,577 (GRCm39) missense possibly damaging 0.65
Posted On 2012-12-06