Incidental Mutation 'IGL01347:Carnmt1'
ID75108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Carnmt1
Ensembl Gene ENSMUSG00000024726
Gene Namecarnosine N-methyltransferase 1
Synonyms2410127L17Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.948) question?
Stock #IGL01347
Quality Score
Status
Chromosome19
Chromosomal Location18670780-18704788 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18691454 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 248 (I248V)
Ref Sequence ENSEMBL: ENSMUSP00000025632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025632]
Predicted Effect probably benign
Transcript: ENSMUST00000025632
AA Change: I248V

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025632
Gene: ENSMUSG00000024726
AA Change: I248V

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,932,543 Y574F probably benign Het
Apc C T 18: 34,317,670 P2506S probably damaging Het
Bdp1 T A 13: 100,070,203 K610N possibly damaging Het
Bri3bp T G 5: 125,454,517 C176G probably damaging Het
Ccdc88b A G 19: 6,845,086 L1475P probably damaging Het
Cfap100 C T 6: 90,406,121 V511M possibly damaging Het
Chchd3 T C 6: 32,803,903 N78S probably benign Het
Cnnm4 G A 1: 36,498,034 E480K possibly damaging Het
Cyp2d34 T A 15: 82,616,777 I385F possibly damaging Het
D930048N14Rik T A 11: 51,654,788 probably benign Het
Dgkg A T 16: 22,600,590 D53E probably benign Het
Dlx3 T A 11: 95,120,533 L71H probably damaging Het
Egln2 A C 7: 27,160,292 V332G probably null Het
Entpd2 A G 2: 25,398,734 Q250R probably benign Het
Epyc A G 10: 97,674,731 D132G probably damaging Het
Fxr2 A G 11: 69,652,288 D637G probably benign Het
Gapvd1 A G 2: 34,706,696 probably null Het
Gbp11 G A 5: 105,331,328 probably benign Het
Gm17175 A T 14: 51,570,850 C162S probably damaging Het
Gm5499 C T 17: 87,078,911 noncoding transcript Het
Gm5724 A T 6: 141,754,466 Y113* probably null Het
Gps1 T C 11: 120,788,260 V378A probably benign Het
Grik1 C T 16: 87,957,593 R368Q probably benign Het
Gsap A G 5: 21,226,320 E214G probably benign Het
Hist1h2bl A G 13: 21,715,894 Y84H probably damaging Het
Jdp2 T C 12: 85,608,246 S28P probably benign Het
Kif26b T C 1: 178,870,675 F577S probably damaging Het
Kl G A 5: 150,980,665 G294D probably damaging Het
Lgsn T A 1: 31,203,960 D374E probably damaging Het
Lman1 T C 18: 65,991,610 I353V probably damaging Het
Lmna T C 3: 88,484,963 H374R probably benign Het
Lrrc57 A G 2: 120,608,805 S31P probably benign Het
Lum T A 10: 97,568,685 N147K probably damaging Het
Olfr430 T C 1: 174,070,066 I256T probably benign Het
Olfr57 A G 10: 79,035,611 T272A probably benign Het
P4ha3 C A 7: 100,305,933 L332I probably damaging Het
Pelp1 A G 11: 70,395,679 I541T probably damaging Het
Pja2 A C 17: 64,313,028 S2A probably benign Het
Rhbdl3 T C 11: 80,353,442 L325P probably damaging Het
Robo2 T C 16: 74,352,856 D28G probably damaging Het
Rpa1 A G 11: 75,307,285 Y470H probably damaging Het
Rtn3 T C 19: 7,457,280 N430S probably benign Het
Scg2 T A 1: 79,436,821 I62L probably benign Het
Scn5a T A 9: 119,562,441 K62* probably null Het
Sec23ip T C 7: 128,762,405 V469A probably benign Het
Shank1 A G 7: 44,342,120 T663A unknown Het
Stab2 G T 10: 86,901,703 probably null Het
Tmcc3 T C 10: 94,582,285 L305P probably damaging Het
Tmem145 A G 7: 25,314,835 N458S probably damaging Het
Tpr G A 1: 150,426,987 R1412Q probably damaging Het
Wdr1 A T 5: 38,545,715 F173I possibly damaging Het
Wdr17 C T 8: 54,651,345 V898I probably benign Het
Wdr64 A T 1: 175,720,333 L145F probably benign Het
Wnt10b A G 15: 98,776,945 probably benign Het
Zfyve26 A T 12: 79,252,183 probably null Het
Other mutations in Carnmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Carnmt1 APN 19 18703382 missense possibly damaging 0.92
R0088:Carnmt1 UTSW 19 18677853 missense probably benign 0.02
R1929:Carnmt1 UTSW 19 18703370 missense probably damaging 1.00
R2270:Carnmt1 UTSW 19 18703370 missense probably damaging 1.00
R2271:Carnmt1 UTSW 19 18703370 missense probably damaging 1.00
R2272:Carnmt1 UTSW 19 18703370 missense probably damaging 1.00
R2519:Carnmt1 UTSW 19 18693711 missense probably benign 0.41
R4597:Carnmt1 UTSW 19 18671087 missense probably damaging 1.00
R5030:Carnmt1 UTSW 19 18691586 missense possibly damaging 0.82
R5114:Carnmt1 UTSW 19 18677734 missense probably damaging 1.00
R5933:Carnmt1 UTSW 19 18704105 missense probably benign 0.00
R7262:Carnmt1 UTSW 19 18677864 missense probably benign 0.33
R7394:Carnmt1 UTSW 19 18670837 start gained probably benign
X0024:Carnmt1 UTSW 19 18677704 nonsense probably null
X0065:Carnmt1 UTSW 19 18690309 missense probably benign 0.00
Z1176:Carnmt1 UTSW 19 18679213 missense possibly damaging 0.65
Z1176:Carnmt1 UTSW 19 18704090 missense probably benign 0.27
Posted On2013-10-07