Incidental Mutation 'R3621:Hdc'
ID |
268625 |
Institutional Source |
Beutler Lab
|
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 # |
R3621 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
126435587-126461219 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 126458187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 45
(Y45F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028838
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028838]
|
AlphaFold |
P23738 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028838
AA Change: Y45F
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000028838 Gene: ENSMUSG00000027360 AA Change: Y45F
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: ENSMUST00000138752
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148591
|
Meta Mutation Damage Score |
0.3248 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
A |
G |
19: 57,140,735 (GRCm39) |
S161P |
probably damaging |
Het |
Atp8a2 |
C |
A |
14: 60,263,587 (GRCm39) |
|
probably null |
Het |
Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
Cep192 |
T |
C |
18: 67,962,928 (GRCm39) |
V648A |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,042,684 (GRCm39) |
S2350G |
probably benign |
Het |
Enpp6 |
T |
C |
8: 47,518,540 (GRCm39) |
W223R |
probably benign |
Het |
Erich3 |
T |
C |
3: 154,454,369 (GRCm39) |
Y515H |
possibly damaging |
Het |
Fam118a |
T |
C |
15: 84,930,002 (GRCm39) |
F77L |
probably damaging |
Het |
Fsip2 |
C |
A |
2: 82,810,602 (GRCm39) |
T2307K |
probably benign |
Het |
Gcg |
T |
C |
2: 62,307,279 (GRCm39) |
E94G |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hspa8 |
A |
T |
9: 40,713,219 (GRCm39) |
M1L |
probably damaging |
Het |
Ilvbl |
G |
A |
10: 78,413,014 (GRCm39) |
V179M |
probably damaging |
Het |
Mettl4 |
T |
C |
17: 95,042,936 (GRCm39) |
Y300C |
probably damaging |
Het |
Or7d10 |
T |
C |
9: 19,832,209 (GRCm39) |
Y235H |
probably damaging |
Het |
Otogl |
T |
C |
10: 107,710,232 (GRCm39) |
D619G |
probably damaging |
Het |
Pnpla1 |
C |
T |
17: 29,096,362 (GRCm39) |
A147V |
probably damaging |
Het |
Slc24a4 |
T |
C |
12: 102,185,222 (GRCm39) |
F111L |
probably damaging |
Het |
Tep1 |
G |
A |
14: 51,066,477 (GRCm39) |
R2328C |
probably damaging |
Het |
Thbs1 |
T |
C |
2: 117,951,640 (GRCm39) |
V820A |
probably benign |
Het |
Timd2 |
G |
A |
11: 46,569,040 (GRCm39) |
T206I |
probably benign |
Het |
Zfp445 |
C |
T |
9: 122,681,833 (GRCm39) |
A703T |
probably benign |
Het |
Zpbp2 |
A |
G |
11: 98,443,382 (GRCm39) |
T18A |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCACACTGAGTCAAGCAAG -3'
(R):5'- CCTTACTCTCAAGGACGCAC -3'
Sequencing Primer
(F):5'- CACTGAGTCAAGCAAGGGTTTCTTAG -3'
(R):5'- AGTTCTACCCCTGCCCATAAATCTAG -3'
|
Posted On |
2015-02-19 |