Incidental Mutation 'IGL02494:Hdc'
ID 295762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdc
Ensembl Gene ENSMUSG00000027360
Gene Name histidine decarboxylase
Synonyms Hdc-s, Hdc-a, L-histidine decarboxylase, Hdc-e, Hdc-c
Accession Numbers
Essential gene? Probably essential (E-score: 0.834) question?
Stock # IGL02494
Quality Score
Status
Chromosome 2
Chromosomal Location 126435587-126461219 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126436041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 610 (F610S)
Ref Sequence ENSEMBL: ENSMUSP00000028838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028838]
AlphaFold P23738
Predicted Effect probably benign
Transcript: ENSMUST00000028838
AA Change: F610S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: F610S

DomainStartEndE-ValueType
low complexity region 6 15 N/A INTRINSIC
Pfam:Pyridoxal_deC 43 421 2.2e-173 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124396
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the group II decarboxylase family and forms a homodimer that converts L-histidine to histamine in a pyridoxal phosphate dependent manner. Histamine regulates several physiologic processes, including neurotransmission, gastric acid secretion,inflamation, and smooth muscle tone.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal mast cells, altered anxiety-related and nociceptive behavior, altered cognitive function, increased weight gain, visceral adiposity, increased amount of brown adipose tissue, impaired glucose tolerance, hyperinsulinemia, and hyperleptinemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob C T 4: 49,541,138 (GRCm39) C178Y possibly damaging Het
Arg2 A G 12: 79,198,697 (GRCm39) R242G probably benign Het
Ash1l T A 3: 88,973,525 (GRCm39) L2528* probably null Het
Astn2 T A 4: 65,910,585 (GRCm39) M468L probably benign Het
Bglap2 A T 3: 88,285,243 (GRCm39) C74* probably null Het
Cand1 A G 10: 119,049,522 (GRCm39) V408A probably benign Het
Ccdc14 A G 16: 34,543,784 (GRCm39) Y714C probably damaging Het
Ccdc88c C T 12: 100,911,734 (GRCm39) G707D probably benign Het
Cdk13 G A 13: 17,913,710 (GRCm39) R890* probably null Het
Cep192 A G 18: 67,937,453 (GRCm39) E61G probably benign Het
Ctdspl T C 9: 118,866,484 (GRCm39) L181P probably damaging Het
Dock7 C T 4: 98,877,471 (GRCm39) V442M probably benign Het
Dop1a T C 9: 86,408,871 (GRCm39) V1860A probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fscn2 G A 11: 120,253,228 (GRCm39) V232M probably benign Het
Gemin5 A T 11: 58,012,583 (GRCm39) C1458S probably benign Het
Glrb A G 3: 80,752,539 (GRCm39) V408A probably benign Het
Gtse1 C T 15: 85,751,704 (GRCm39) P299L probably damaging Het
Hcfc1r1 T A 17: 23,893,559 (GRCm39) M46K probably damaging Het
Hip1 A T 5: 135,473,645 (GRCm39) C224* probably null Het
Hsd17b10 G T X: 150,787,230 (GRCm39) A241S probably benign Het
Igsf10 G T 3: 59,235,427 (GRCm39) Q1585K probably damaging Het
Kat2b T C 17: 53,960,233 (GRCm39) Y514H probably damaging Het
Krt78 T C 15: 101,862,486 (GRCm39) I58M probably benign Het
Lcat C A 8: 106,668,571 (GRCm39) probably benign Het
Naca G A 10: 127,877,179 (GRCm39) probably benign Het
Nbea T C 3: 55,712,772 (GRCm39) K2102E probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or1e35 A C 11: 73,797,550 (GRCm39) I256S possibly damaging Het
Or4b1b G A 2: 90,112,295 (GRCm39) S208F probably benign Het
Or4n4 A T 14: 50,519,683 (GRCm39) V9D probably damaging Het
Or7c19 C A 8: 85,957,312 (GRCm39) L63I possibly damaging Het
Patj T A 4: 98,592,224 (GRCm39) probably benign Het
Pcdhb17 G A 18: 37,618,347 (GRCm39) A46T possibly damaging Het
Phf8 T C X: 150,408,227 (GRCm39) V859A probably benign Het
Plec T A 15: 76,060,979 (GRCm39) E3054V probably damaging Het
Prr12 C A 7: 44,678,270 (GRCm39) K1958N unknown Het
Psmf1 A G 2: 151,582,929 (GRCm39) probably null Het
Rsu1 T C 2: 13,222,002 (GRCm39) probably null Het
Samm50 T C 15: 84,080,015 (GRCm39) V31A probably benign Het
St14 A G 9: 31,019,941 (GRCm39) V56A possibly damaging Het
Trpc1 T C 9: 95,590,360 (GRCm39) N699S probably damaging Het
Ttn A T 2: 76,574,144 (GRCm39) M25583K probably damaging Het
Utrn A G 10: 12,585,798 (GRCm39) V993A probably benign Het
Other mutations in Hdc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Hdc APN 2 126,443,792 (GRCm39) missense probably benign 0.00
IGL01024:Hdc APN 2 126,445,766 (GRCm39) missense probably benign 0.32
IGL01393:Hdc APN 2 126,436,581 (GRCm39) missense probably benign 0.28
IGL01802:Hdc APN 2 126,445,814 (GRCm39) missense probably benign 0.04
IGL01958:Hdc APN 2 126,436,452 (GRCm39) missense possibly damaging 0.87
IGL02193:Hdc APN 2 126,443,700 (GRCm39) splice site probably benign
IGL02696:Hdc APN 2 126,436,220 (GRCm39) missense probably damaging 1.00
IGL02874:Hdc APN 2 126,443,596 (GRCm39) missense probably benign 0.21
R0453:Hdc UTSW 2 126,436,871 (GRCm39) splice site probably benign
R0528:Hdc UTSW 2 126,458,152 (GRCm39) missense probably benign 0.00
R1337:Hdc UTSW 2 126,458,196 (GRCm39) missense probably benign
R1862:Hdc UTSW 2 126,439,853 (GRCm39) missense probably benign 0.36
R1938:Hdc UTSW 2 126,448,317 (GRCm39) missense possibly damaging 0.86
R1994:Hdc UTSW 2 126,458,107 (GRCm39) missense probably damaging 1.00
R2230:Hdc UTSW 2 126,435,938 (GRCm39) missense possibly damaging 0.65
R2257:Hdc UTSW 2 126,458,000 (GRCm39) splice site probably null
R2921:Hdc UTSW 2 126,435,910 (GRCm39) missense probably damaging 1.00
R2923:Hdc UTSW 2 126,435,910 (GRCm39) missense probably damaging 1.00
R3620:Hdc UTSW 2 126,458,187 (GRCm39) missense possibly damaging 0.86
R3621:Hdc UTSW 2 126,458,187 (GRCm39) missense possibly damaging 0.86
R3914:Hdc UTSW 2 126,444,926 (GRCm39) missense probably damaging 1.00
R4076:Hdc UTSW 2 126,458,181 (GRCm39) missense possibly damaging 0.92
R4114:Hdc UTSW 2 126,443,738 (GRCm39) missense probably benign 0.16
R4213:Hdc UTSW 2 126,439,786 (GRCm39) splice site probably null
R4827:Hdc UTSW 2 126,436,233 (GRCm39) missense probably benign
R4889:Hdc UTSW 2 126,436,053 (GRCm39) missense probably benign 0.00
R5013:Hdc UTSW 2 126,446,220 (GRCm39) missense probably benign 0.33
R5593:Hdc UTSW 2 126,460,504 (GRCm39) utr 5 prime probably benign
R5604:Hdc UTSW 2 126,436,583 (GRCm39) missense probably benign
R5637:Hdc UTSW 2 126,458,109 (GRCm39) missense probably benign 0.02
R6211:Hdc UTSW 2 126,435,897 (GRCm39) missense probably damaging 0.98
R6312:Hdc UTSW 2 126,449,326 (GRCm39) missense possibly damaging 0.65
R7730:Hdc UTSW 2 126,436,002 (GRCm39) missense possibly damaging 0.51
R7889:Hdc UTSW 2 126,458,130 (GRCm39) missense probably damaging 1.00
R8328:Hdc UTSW 2 126,443,803 (GRCm39) missense probably damaging 1.00
R8482:Hdc UTSW 2 126,436,125 (GRCm39) missense probably benign
R8517:Hdc UTSW 2 126,439,890 (GRCm39) critical splice acceptor site probably null
R9136:Hdc UTSW 2 126,439,786 (GRCm39) splice site probably null
R9139:Hdc UTSW 2 126,439,837 (GRCm39) missense probably damaging 1.00
R9208:Hdc UTSW 2 126,436,600 (GRCm39) missense probably benign 0.32
R9515:Hdc UTSW 2 126,458,149 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16