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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |