Incidental Mutation 'IGL02800:Carns1'
ID360170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Carns1
Ensembl Gene ENSMUSG00000075289
Gene Namecarnosine synthase 1
SynonymsAtpgd1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL02800
Quality Score
Status
Chromosome19
Chromosomal Location4164324-4175479 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 4166570 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025749] [ENSMUST00000118483] [ENSMUST00000127605] [ENSMUST00000130469] [ENSMUST00000137431] [ENSMUST00000167055]
Predicted Effect probably benign
Transcript: ENSMUST00000025749
SMART Domains Protein: ENSMUSP00000025749
Gene: ENSMUSG00000024830

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
S_TKc 67 328 2.56e-103 SMART
S_TK_X 329 391 2.6e-26 SMART
low complexity region 406 421 N/A INTRINSIC
low complexity region 428 485 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118483
SMART Domains Protein: ENSMUSP00000112512
Gene: ENSMUSG00000024830

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
S_TKc 67 328 2.56e-103 SMART
S_TK_X 329 384 1.69e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125057
Predicted Effect probably benign
Transcript: ENSMUST00000127605
SMART Domains Protein: ENSMUSP00000123376
Gene: ENSMUSG00000024830

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
S_TKc 67 304 1.6e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130469
SMART Domains Protein: ENSMUSP00000117446
Gene: ENSMUSG00000024830

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
Pfam:Pkinase 67 153 2.7e-14 PFAM
Pfam:Pkinase_Tyr 67 153 9.8e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135911
Predicted Effect probably benign
Transcript: ENSMUST00000137431
SMART Domains Protein: ENSMUSP00000116744
Gene: ENSMUSG00000024830

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
Pfam:Pkinase_Tyr 67 277 4.6e-31 PFAM
Pfam:Pkinase 67 278 2.2e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155303
Predicted Effect probably benign
Transcript: ENSMUST00000167055
SMART Domains Protein: ENSMUSP00000131624
Gene: ENSMUSG00000075289

DomainStartEndE-ValueType
low complexity region 206 217 N/A INTRINSIC
low complexity region 312 328 N/A INTRINSIC
low complexity region 332 348 N/A INTRINSIC
low complexity region 399 410 N/A INTRINSIC
low complexity region 414 433 N/A INTRINSIC
low complexity region 490 496 N/A INTRINSIC
Pfam:ATP-grasp_4 620 819 4.1e-46 PFAM
low complexity region 862 875 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181211
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,420,605 I1045T probably damaging Het
Ankrd22 T C 19: 34,165,781 probably benign Het
Bahcc1 A G 11: 120,272,934 D686G probably damaging Het
Cc2d1b C T 4: 108,626,136 L306F probably benign Het
Ccdc153 A G 9: 44,245,832 E135G probably damaging Het
Ccne1 T C 7: 38,102,799 D148G probably damaging Het
Cfap57 A T 4: 118,614,750 M144K probably damaging Het
Chd6 A G 2: 160,984,632 V1049A probably damaging Het
Cpne9 A G 6: 113,302,073 D476G probably benign Het
Dna2 T C 10: 62,961,725 probably null Het
Eif4h T C 5: 134,627,605 D77G probably benign Het
Fam208b T C 13: 3,585,154 N551S probably benign Het
Fhl2 C T 1: 43,128,402 R177Q probably benign Het
Fxyd5 C T 7: 31,032,979 R176H possibly damaging Het
G6pd2 A G 5: 61,809,392 E170G probably damaging Het
Haus3 A G 5: 34,166,324 I314T possibly damaging Het
Igkv4-54 A G 6: 69,631,878 V41A probably damaging Het
Kidins220 T A 12: 25,003,093 C461S probably damaging Het
Lsr T C 7: 30,958,413 D442G probably damaging Het
Mecom T C 3: 29,961,034 I847V probably damaging Het
Mia2 C T 12: 59,188,491 R1326* probably null Het
Myo15 C A 11: 60,502,369 H2240N probably damaging Het
Olfr1318 A T 2: 112,156,244 I98F possibly damaging Het
Olfr23 A G 11: 73,941,116 Y290C probably damaging Het
Osgep T A 14: 50,915,857 probably benign Het
Pcnt G A 10: 76,412,583 Q901* probably null Het
Pgm3 T C 9: 86,555,378 E481G possibly damaging Het
Plch1 T A 3: 63,698,478 D1326V probably benign Het
Rabgap1l T C 1: 160,472,053 D590G possibly damaging Het
Rapsn A G 2: 91,043,239 M244V probably benign Het
Rcbtb2 T A 14: 73,168,103 Y299* probably null Het
Slc8a1 A T 17: 81,408,323 D760E probably benign Het
Smim23 C A 11: 32,824,424 probably null Het
Sva A G 6: 42,040,135 T59A unknown Het
Tacc2 T A 7: 130,624,079 D831E probably benign Het
Tg G T 15: 66,757,886 W472L probably damaging Het
Tmem231 A G 8: 111,914,032 V283A probably benign Het
Traf4 A T 11: 78,160,235 I365N possibly damaging Het
Usf3 G A 16: 44,219,096 S1313N probably benign Het
Vangl1 G A 3: 102,163,295 probably benign Het
Wdr70 T C 15: 8,082,496 S88G probably benign Het
Other mutations in Carns1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Carns1 APN 19 4166499 splice site probably null
IGL02246:Carns1 APN 19 4166432 missense possibly damaging 0.87
IGL02658:Carns1 APN 19 4173084 missense probably benign 0.01
R1750:Carns1 UTSW 19 4173157 missense possibly damaging 0.63
R1902:Carns1 UTSW 19 4166338 missense probably damaging 1.00
R1935:Carns1 UTSW 19 4165474 missense probably damaging 1.00
R2434:Carns1 UTSW 19 4165449 missense probably damaging 1.00
R2437:Carns1 UTSW 19 4165783 missense possibly damaging 0.69
R3772:Carns1 UTSW 19 4170916 splice site probably benign
R4091:Carns1 UTSW 19 4171683 missense probably damaging 0.96
R4518:Carns1 UTSW 19 4170070 missense probably benign 0.05
R4668:Carns1 UTSW 19 4165476 nonsense probably null
R4737:Carns1 UTSW 19 4170928 intron probably benign
R4751:Carns1 UTSW 19 4166418 missense probably damaging 1.00
R5384:Carns1 UTSW 19 4171901 critical splice acceptor site probably null
R6077:Carns1 UTSW 19 4170876 missense probably benign 0.01
R6373:Carns1 UTSW 19 4166516 missense probably benign 0.41
R6411:Carns1 UTSW 19 4166464 missense probably damaging 1.00
R6470:Carns1 UTSW 19 4171783 missense possibly damaging 0.85
R6486:Carns1 UTSW 19 4169980 missense probably benign 0.04
R6915:Carns1 UTSW 19 4169913 missense probably benign 0.34
R6981:Carns1 UTSW 19 4170082 missense probably benign 0.00
R7936:Carns1 UTSW 19 4166153 missense probably benign
R8025:Carns1 UTSW 19 4166506 missense probably damaging 1.00
Posted On2015-12-18