Incidental Mutation 'IGL01958:Hdc'
| ID |
181456 |
| 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 # |
IGL01958
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
126435587-126461219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126436452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 473
(L473P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028838]
|
| AlphaFold |
P23738 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028838
AA Change: L473P
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: L473P
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732465J04Rik |
T |
C |
10: 95,629,659 (GRCm39) |
I29T |
probably damaging |
Het |
| Agps |
G |
A |
2: 75,740,045 (GRCm39) |
|
probably null |
Het |
| Agxt2 |
A |
G |
15: 10,393,794 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
C |
19: 8,992,273 (GRCm39) |
V4519A |
possibly damaging |
Het |
| Aktip |
T |
C |
8: 91,852,853 (GRCm39) |
D159G |
probably damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,806,125 (GRCm39) |
I94V |
probably damaging |
Het |
| Asph |
T |
C |
4: 9,474,904 (GRCm39) |
E674G |
possibly damaging |
Het |
| Atat1 |
T |
A |
17: 36,219,735 (GRCm39) |
|
probably benign |
Het |
| Ccar1 |
G |
A |
10: 62,626,714 (GRCm39) |
A20V |
possibly damaging |
Het |
| Cdc26 |
T |
C |
4: 62,321,001 (GRCm39) |
D14G |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,586,089 (GRCm39) |
F156S |
probably damaging |
Het |
| Dctn1 |
A |
G |
6: 83,168,326 (GRCm39) |
T525A |
possibly damaging |
Het |
| Dnah8 |
T |
G |
17: 31,074,869 (GRCm39) |
|
probably benign |
Het |
| Dnajc10 |
T |
A |
2: 80,151,648 (GRCm39) |
|
probably benign |
Het |
| Dtl |
C |
A |
1: 191,300,489 (GRCm39) |
W125L |
probably damaging |
Het |
| Fam3c |
G |
A |
6: 22,318,954 (GRCm39) |
T149I |
probably damaging |
Het |
| Fgd6 |
A |
G |
10: 93,974,170 (GRCm39) |
T1304A |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm6578 |
A |
G |
6: 12,099,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai1 |
A |
G |
5: 18,478,568 (GRCm39) |
F199S |
probably damaging |
Het |
| Grb7 |
T |
A |
11: 98,345,480 (GRCm39) |
V480D |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,479,622 (GRCm39) |
N4614S |
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,634,791 (GRCm39) |
D344G |
probably benign |
Het |
| Ints1 |
C |
T |
5: 139,745,843 (GRCm39) |
R1342Q |
possibly damaging |
Het |
| Itga9 |
T |
A |
9: 118,465,562 (GRCm39) |
|
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,236,285 (GRCm39) |
L339P |
probably damaging |
Het |
| Klhl22 |
A |
G |
16: 17,594,326 (GRCm39) |
I152V |
probably benign |
Het |
| Krtap5-2 |
C |
A |
7: 141,729,459 (GRCm39) |
G74* |
probably null |
Het |
| Lrrc59 |
C |
A |
11: 94,529,354 (GRCm39) |
|
probably null |
Het |
| Map3k13 |
A |
G |
16: 21,710,873 (GRCm39) |
Q52R |
probably benign |
Het |
| Mb21d2 |
A |
G |
16: 28,646,495 (GRCm39) |
|
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,463,053 (GRCm39) |
|
probably benign |
Het |
| Myrf |
A |
G |
19: 10,187,742 (GRCm39) |
|
probably benign |
Het |
| Nek11 |
T |
C |
9: 105,177,502 (GRCm39) |
T250A |
probably benign |
Het |
| Nek5 |
A |
T |
8: 22,586,842 (GRCm39) |
V323E |
probably benign |
Het |
| Nfasc |
A |
T |
1: 132,536,176 (GRCm39) |
C586* |
probably null |
Het |
| Nup210l |
T |
A |
3: 90,111,231 (GRCm39) |
L1711Q |
possibly damaging |
Het |
| Parp8 |
T |
G |
13: 117,013,108 (GRCm39) |
K644Q |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,269,513 (GRCm39) |
Q252K |
probably damaging |
Het |
| Pianp |
A |
G |
6: 124,977,646 (GRCm39) |
T181A |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,799,298 (GRCm39) |
V2839A |
probably damaging |
Het |
| Poli |
C |
T |
18: 70,659,657 (GRCm39) |
R58H |
possibly damaging |
Het |
| Ptk7 |
T |
C |
17: 46,890,353 (GRCm39) |
D447G |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,694,386 (GRCm39) |
I637V |
probably benign |
Het |
| Rasip1 |
A |
T |
7: 45,286,188 (GRCm39) |
R804* |
probably null |
Het |
| Relt |
A |
G |
7: 100,500,350 (GRCm39) |
V113A |
probably benign |
Het |
| Rnf215 |
G |
T |
11: 4,090,317 (GRCm39) |
C345F |
probably damaging |
Het |
| Scart2 |
T |
C |
7: 139,854,040 (GRCm39) |
C348R |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,532,173 (GRCm39) |
D595G |
probably damaging |
Het |
| Serpina3k |
G |
A |
12: 104,307,316 (GRCm39) |
V183M |
probably damaging |
Het |
| Snapc4 |
T |
C |
2: 26,256,452 (GRCm39) |
|
probably benign |
Het |
| Sparcl1 |
A |
T |
5: 104,240,406 (GRCm39) |
D339E |
probably benign |
Het |
| Tg |
T |
C |
15: 66,631,335 (GRCm39) |
F535L |
probably benign |
Het |
| Zbtb45 |
C |
A |
7: 12,740,203 (GRCm39) |
A471S |
probably benign |
Het |
| Zfp106 |
T |
A |
2: 120,365,288 (GRCm39) |
K373M |
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 |
|
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 |
2014-05-07 |
Incidental Mutation