Incidental Mutation 'IGL02874:Hdc'
| ID |
362633 |
| 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 # |
IGL02874
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
126435587-126461219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126443596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 334
(T334S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028838]
|
| AlphaFold |
P23738 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028838
AA Change: T334S
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: T334S
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138752
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a2 |
A |
G |
14: 60,039,701 (GRCm39) |
Y876H |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,950,267 (GRCm39) |
Q1161* |
probably null |
Het |
| Chrd |
C |
T |
16: 20,553,946 (GRCm39) |
T282I |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,479,773 (GRCm39) |
S749P |
possibly damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,519 (GRCm39) |
N188K |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,820,926 (GRCm39) |
M181V |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,644,973 (GRCm39) |
M1021K |
possibly damaging |
Het |
| Exoc5 |
A |
T |
14: 49,288,903 (GRCm39) |
N48K |
probably benign |
Het |
| Golga1 |
A |
G |
2: 38,929,104 (GRCm39) |
L338P |
probably damaging |
Het |
| Idh2 |
A |
G |
7: 79,747,621 (GRCm39) |
S300P |
probably damaging |
Het |
| Igkv4-78 |
T |
C |
6: 69,037,190 (GRCm39) |
I7V |
probably benign |
Het |
| Impdh1 |
A |
T |
6: 29,203,155 (GRCm39) |
M389K |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,922 (GRCm39) |
C209S |
probably damaging |
Het |
| Or11g25 |
G |
T |
14: 50,723,686 (GRCm39) |
C257F |
possibly damaging |
Het |
| Or4q3 |
A |
T |
14: 50,583,583 (GRCm39) |
H105Q |
probably damaging |
Het |
| Or56b2 |
C |
A |
7: 104,337,230 (GRCm39) |
Q3K |
probably benign |
Het |
| Ovol1 |
T |
C |
19: 5,601,209 (GRCm39) |
K194R |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,685,680 (GRCm39) |
I716F |
possibly damaging |
Het |
| Pck1 |
T |
C |
2: 172,997,042 (GRCm39) |
I228T |
probably damaging |
Het |
| Pla2g2a |
T |
C |
4: 138,562,159 (GRCm39) |
F132L |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,426,967 (GRCm39) |
V1086A |
probably damaging |
Het |
| Rasd2 |
T |
C |
8: 75,945,327 (GRCm39) |
I52T |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,809,806 (GRCm39) |
Y1185H |
probably damaging |
Het |
| Sema6c |
T |
G |
3: 95,077,688 (GRCm39) |
V441G |
probably damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,623,198 (GRCm39) |
M146L |
probably benign |
Het |
| Thsd4 |
C |
T |
9: 60,160,013 (GRCm39) |
V358I |
probably damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,781,151 (GRCm39) |
E474G |
probably benign |
Het |
| Ttbk2 |
T |
A |
2: 120,576,193 (GRCm39) |
D928V |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,641,522 (GRCm39) |
G11779S |
probably damaging |
Het |
| Wfdc6b |
T |
C |
2: 164,459,368 (GRCm39) |
|
probably null |
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 |
|
|
IGL02494:Hdc
|
APN |
2 |
126,436,041 (GRCm39) |
missense |
probably benign |
|
|
IGL02696:Hdc
|
APN |
2 |
126,436,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation