Incidental Mutation 'IGL01024:Hdc'
| ID |
53471 |
| 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: 0.854)
|
| Stock # |
IGL01024
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
126435587-126461219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126445766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 246
(V246A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028838]
|
| AlphaFold |
P23738 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028838
AA Change: V246A
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: V246A
| 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: 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
C |
19: 3,767,040 (GRCm39) |
V209A |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,087,968 (GRCm39) |
Y1053F |
probably benign |
Het |
| Acot12 |
C |
T |
13: 91,929,330 (GRCm39) |
Q386* |
probably null |
Het |
| Adamts16 |
A |
G |
13: 70,943,603 (GRCm39) |
V336A |
probably benign |
Het |
| Ankrd49 |
A |
G |
9: 14,694,099 (GRCm39) |
F23L |
probably damaging |
Het |
| Aspm |
A |
T |
1: 139,405,862 (GRCm39) |
H1583L |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,939,265 (GRCm39) |
I677V |
probably benign |
Het |
| Brinp1 |
A |
T |
4: 68,680,731 (GRCm39) |
W600R |
probably damaging |
Het |
| Ccdc185 |
T |
C |
1: 182,574,988 (GRCm39) |
E567G |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,539,066 (GRCm39) |
D445G |
probably damaging |
Het |
| Elp5 |
T |
C |
11: 69,859,248 (GRCm39) |
|
probably benign |
Het |
| Gm9376 |
A |
G |
14: 118,504,570 (GRCm39) |
M1V |
probably null |
Het |
| Gtf2a1l |
A |
G |
17: 88,978,719 (GRCm39) |
K40R |
probably damaging |
Het |
| Hectd2 |
T |
A |
19: 36,583,793 (GRCm39) |
F479L |
probably damaging |
Het |
| Hipk1 |
G |
T |
3: 103,667,952 (GRCm39) |
N538K |
probably benign |
Het |
| Kif27 |
T |
A |
13: 58,436,015 (GRCm39) |
E1259D |
possibly damaging |
Het |
| Klhdc2 |
T |
A |
12: 69,352,610 (GRCm39) |
N256K |
probably benign |
Het |
| Krt71 |
C |
T |
15: 101,645,109 (GRCm39) |
A401T |
probably damaging |
Het |
| Mapk3 |
A |
T |
7: 126,363,946 (GRCm39) |
K312* |
probably null |
Het |
| Med12l |
G |
T |
3: 58,980,762 (GRCm39) |
S365I |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,619,944 (GRCm39) |
K11R |
probably benign |
Het |
| Nox3 |
A |
T |
17: 3,733,290 (GRCm39) |
I187N |
probably damaging |
Het |
| Nudcd1 |
T |
A |
15: 44,284,222 (GRCm39) |
M55L |
probably benign |
Het |
| Or1a1b |
A |
T |
11: 74,097,481 (GRCm39) |
L187Q |
probably damaging |
Het |
| Or4f59 |
A |
T |
2: 111,872,716 (GRCm39) |
F220L |
probably benign |
Het |
| Or8b57 |
A |
G |
9: 40,004,029 (GRCm39) |
S78P |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,123,037 (GRCm39) |
|
probably benign |
Het |
| Pbrm1 |
G |
A |
14: 30,774,217 (GRCm39) |
R461H |
probably damaging |
Het |
| Ppm1f |
C |
A |
16: 16,741,633 (GRCm39) |
T369K |
probably benign |
Het |
| Ppp1r16b |
C |
T |
2: 158,582,736 (GRCm39) |
|
probably benign |
Het |
| Pramel29 |
A |
T |
4: 143,935,045 (GRCm39) |
I232K |
possibly damaging |
Het |
| Prom2 |
T |
C |
2: 127,383,059 (GRCm39) |
N61S |
probably benign |
Het |
| Psmc2 |
T |
C |
5: 22,006,196 (GRCm39) |
|
probably benign |
Het |
| Psme2 |
A |
G |
14: 55,825,893 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,008,650 (GRCm39) |
H655R |
probably damaging |
Het |
| Pxdn |
A |
C |
12: 30,037,098 (GRCm39) |
N292T |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,977,445 (GRCm39) |
I1301V |
probably benign |
Het |
| Rnase11 |
T |
C |
14: 51,287,321 (GRCm39) |
I78V |
probably benign |
Het |
| Rpl41 |
A |
G |
10: 128,384,246 (GRCm39) |
|
probably benign |
Het |
| Sgf29 |
G |
A |
7: 126,264,103 (GRCm39) |
R56Q |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,819,209 (GRCm39) |
L1449S |
probably damaging |
Het |
| Slc34a2 |
T |
A |
5: 53,224,972 (GRCm39) |
V371D |
possibly damaging |
Het |
| Son |
C |
A |
16: 91,452,798 (GRCm39) |
T515K |
probably damaging |
Het |
| Tbx15 |
A |
T |
3: 99,223,562 (GRCm39) |
D250V |
probably damaging |
Het |
| Thoc2l |
T |
G |
5: 104,669,612 (GRCm39) |
V1378G |
probably benign |
Het |
| Tmem171 |
T |
A |
13: 98,823,026 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
C |
T |
5: 87,228,728 (GRCm39) |
|
probably null |
Het |
| Vill |
G |
A |
9: 118,899,418 (GRCm39) |
|
probably null |
Het |
| Vmn2r22 |
A |
G |
6: 123,615,012 (GRCm39) |
F193L |
probably damaging |
Het |
| Vmn2r95 |
C |
T |
17: 18,672,590 (GRCm39) |
|
probably benign |
Het |
| Vstm2a |
T |
A |
11: 16,231,874 (GRCm39) |
V223D |
possibly damaging |
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 |
|
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 |
|
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 |
2013-06-28 |
Incidental Mutation