Incidental Mutation 'R4597:Carnmt1'
ID 344482
Institutional Source Beutler Lab
Gene Symbol Carnmt1
Ensembl Gene ENSMUSG00000024726
Gene Name carnosine N-methyltransferase 1
Synonyms 2410127L17Rik
MMRRC Submission 041813-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.929) question?
Stock # R4597 (G1)
Quality Score 83
Status Not validated
Chromosome 19
Chromosomal Location 18648128-18684564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 18648451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 30 (G30W)
Ref Sequence ENSEMBL: ENSMUSP00000025632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025632]
AlphaFold Q80UY1
Predicted Effect probably damaging
Transcript: ENSMUST00000025632
AA Change: G30W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025632
Gene: ENSMUSG00000024726
AA Change: G30W

DomainStartEndE-ValueType
low complexity region 28 46 N/A INTRINSIC
N2227 135 400 2.56e-169 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (67/70)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik T A 2: 103,856,500 (GRCm39) probably benign Het
Aadacl2fm3 T A 3: 59,784,214 (GRCm39) M229K possibly damaging Het
Adh5 T C 3: 138,151,118 (GRCm39) V27A probably damaging Het
Ank2 A T 3: 126,781,800 (GRCm39) D843E probably damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Arid2 A G 15: 96,268,737 (GRCm39) N950S probably damaging Het
Arl1 A T 10: 88,566,608 (GRCm39) probably benign Het
Bcl3 T G 7: 19,546,428 (GRCm39) I136L probably damaging Het
Car9 T A 4: 43,509,138 (GRCm39) S235R probably damaging Het
Casp12 C T 9: 5,348,941 (GRCm39) T101I possibly damaging Het
Cdh23 A G 10: 60,244,823 (GRCm39) L1026P probably damaging Het
Clec10a A T 11: 70,060,806 (GRCm39) Y186F probably damaging Het
Col22a1 G T 15: 71,836,511 (GRCm39) A508E possibly damaging Het
Crocc G C 4: 140,747,088 (GRCm39) S1573R probably damaging Het
Cttnbp2nl G T 3: 104,913,191 (GRCm39) T231K possibly damaging Het
Drd4 T C 7: 140,874,392 (GRCm39) V319A probably damaging Het
Ehbp1l1 T C 19: 5,767,955 (GRCm39) E1116G possibly damaging Het
Fam83d T C 2: 158,627,142 (GRCm39) V277A possibly damaging Het
Fga G T 3: 82,938,542 (GRCm39) G306* probably null Het
Fkbp9 A G 6: 56,809,367 (GRCm39) Y59C probably damaging Het
Frmpd1 A G 4: 45,274,441 (GRCm39) T450A probably benign Het
Gabbr1 A G 17: 37,367,791 (GRCm39) M414V possibly damaging Het
Gm16506 A G 14: 43,962,572 (GRCm39) F112L unknown Het
Gm27047 T C 6: 130,607,299 (GRCm39) noncoding transcript Het
Gm4353 T A 7: 115,682,847 (GRCm39) K245* probably null Het
Gm4950 A T 18: 51,998,865 (GRCm39) I30N probably benign Het
H1f5 A T 13: 21,964,681 (GRCm39) V15E probably damaging Het
H2-M10.2 T C 17: 36,596,285 (GRCm39) T187A probably benign Het
H60c A T 10: 3,209,968 (GRCm39) N106K possibly damaging Het
Hoxa6 T C 6: 52,185,387 (GRCm39) probably null Het
Ighv1-74 A G 12: 115,766,276 (GRCm39) C115R probably damaging Het
Il17a G A 1: 20,801,217 (GRCm39) probably null Het
Itga9 T C 9: 118,672,582 (GRCm39) Y199H probably damaging Het
Itpr3 C T 17: 27,312,257 (GRCm39) R554C probably damaging Het
Kcnc3 T A 7: 44,245,240 (GRCm39) M510K probably damaging Het
Kif15 A G 9: 122,822,914 (GRCm39) T432A probably benign Het
Kif26b A T 1: 178,744,358 (GRCm39) S1485C probably damaging Het
Klhl2 C A 8: 65,207,421 (GRCm39) G313W probably damaging Het
Klhl32 C T 4: 24,629,339 (GRCm39) S476N probably benign Het
Krt1 C T 15: 101,756,063 (GRCm39) E386K possibly damaging Het
Lats1 T C 10: 7,567,510 (GRCm39) S94P probably benign Het
Ltf G A 9: 110,852,001 (GRCm39) C146Y probably damaging Het
Mars1 A G 10: 127,136,322 (GRCm39) L501P probably damaging Het
Myh2 A C 11: 67,080,244 (GRCm39) I1153L probably benign Het
Ncstn A T 1: 171,895,823 (GRCm39) Y522* probably null Het
Nipal4 A G 11: 46,042,156 (GRCm39) V175A probably damaging Het
Or7e169 T C 9: 19,756,987 (GRCm39) I309M probably benign Het
Pcdha1 C G 18: 37,064,959 (GRCm39) A541G possibly damaging Het
Pex11g A G 8: 3,514,043 (GRCm39) Y40H probably damaging Het
Pira13 T A 7: 3,825,154 (GRCm39) Y496F possibly damaging Het
Qrfprl T C 6: 65,424,408 (GRCm39) probably null Het
Rin2 G T 2: 145,702,825 (GRCm39) R507L probably benign Het
Sh2b2 T C 5: 136,260,616 (GRCm39) D200G probably damaging Het
Smg7 C A 1: 152,716,052 (GRCm39) probably null Het
Snx17 T C 5: 31,355,857 (GRCm39) probably benign Het
Sos1 T C 17: 80,741,255 (GRCm39) Y510C probably benign Het
Spata31d1c T A 13: 65,183,427 (GRCm39) L323* probably null Het
Supt16 C T 14: 52,411,046 (GRCm39) G686D probably damaging Het
Szt2 C T 4: 118,229,878 (GRCm39) R2751H unknown Het
Tnfsf8 A G 4: 63,755,337 (GRCm39) L95P probably damaging Het
Vmn2r17 A G 5: 109,577,428 (GRCm39) H493R probably benign Het
Zfp770 C T 2: 114,027,251 (GRCm39) A273T possibly damaging Het
Other mutations in Carnmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Carnmt1 APN 19 18,680,746 (GRCm39) missense possibly damaging 0.92
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
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
Predicted Primers PCR Primer
(F):5'- TAAGCGTATTCGGACGTCAG -3'
(R):5'- AAAAGTGCACACTCGCTCCG -3'

Sequencing Primer
(F):5'- ACGTCAGCGCGTCGTAG -3'
(R):5'- TGAGGTGGGAGGCAGCC -3'
Posted On 2015-09-25