Incidental Mutation 'R7730:Hdc'
ID |
595753 |
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 |
MMRRC Submission |
045786-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.834)
|
Stock # |
R7730 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
126435587-126461219 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 126436002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 623
(M623K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028838
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028838]
|
AlphaFold |
P23738 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028838
AA Change: M623K
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000028838 Gene: ENSMUSG00000027360 AA Change: M623K
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
Pfam:Pyridoxal_deC
|
43 |
421 |
2.2e-173 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
A |
11: 48,838,703 (GRCm39) |
H628L |
probably benign |
Het |
Adam6a |
T |
A |
12: 113,507,660 (GRCm39) |
V11E |
possibly damaging |
Het |
Amotl1 |
T |
G |
9: 14,467,059 (GRCm39) |
K660T |
possibly damaging |
Het |
Ap4m1 |
T |
C |
5: 138,171,077 (GRCm39) |
I59T |
probably damaging |
Het |
Brd3 |
T |
C |
2: 27,346,967 (GRCm39) |
Y389C |
probably damaging |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Card11 |
C |
A |
5: 140,871,751 (GRCm39) |
R650L |
probably damaging |
Het |
Cercam |
G |
A |
2: 29,762,574 (GRCm39) |
|
probably null |
Het |
Cnst |
T |
C |
1: 179,452,650 (GRCm39) |
C673R |
probably damaging |
Het |
Dld |
G |
T |
12: 31,390,864 (GRCm39) |
T194K |
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,507,890 (GRCm39) |
W1714R |
probably damaging |
Het |
Dsg1a |
T |
G |
18: 20,464,768 (GRCm39) |
V421G |
possibly damaging |
Het |
Fer1l4 |
G |
T |
2: 155,890,854 (GRCm39) |
P188Q |
probably benign |
Het |
Gpr158 |
T |
C |
2: 21,831,158 (GRCm39) |
S753P |
probably damaging |
Het |
Herc1 |
CAACCCTGGTAAC |
CAAC |
9: 66,400,472 (GRCm39) |
|
probably benign |
Het |
Igf2r |
A |
T |
17: 12,954,878 (GRCm39) |
F203I |
probably damaging |
Het |
Jag2 |
A |
T |
12: 112,885,661 (GRCm39) |
I145N |
probably damaging |
Het |
Kcnt2 |
T |
A |
1: 140,446,686 (GRCm39) |
F694I |
probably benign |
Het |
Lpl |
A |
T |
8: 69,340,100 (GRCm39) |
R32* |
probably null |
Het |
Mcpt4 |
T |
A |
14: 56,297,428 (GRCm39) |
I243L |
probably benign |
Het |
Mtf1 |
C |
A |
4: 124,732,412 (GRCm39) |
A490E |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,360,791 (GRCm39) |
M4497K |
probably damaging |
Het |
Myog |
T |
C |
1: 134,218,914 (GRCm39) |
|
probably null |
Het |
Nav2 |
T |
C |
7: 49,222,145 (GRCm39) |
S1757P |
probably damaging |
Het |
Or7g18 |
T |
G |
9: 18,786,709 (GRCm39) |
F26V |
probably benign |
Het |
Osmr |
T |
A |
15: 6,853,963 (GRCm39) |
I583F |
probably damaging |
Het |
Phf19 |
T |
A |
2: 34,785,816 (GRCm39) |
E551V |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,046,533 (GRCm39) |
M870T |
probably benign |
Het |
Psat1 |
A |
G |
19: 15,895,720 (GRCm39) |
F83L |
probably damaging |
Het |
Reep1 |
T |
A |
6: 71,757,725 (GRCm39) |
V108D |
possibly damaging |
Het |
Rorc |
A |
G |
3: 94,300,421 (GRCm39) |
T455A |
probably benign |
Het |
Serinc5 |
T |
G |
13: 92,821,698 (GRCm39) |
I169S |
probably damaging |
Het |
Serpinb6c |
T |
C |
13: 34,083,292 (GRCm39) |
M41V |
probably damaging |
Het |
Sgsm3 |
A |
T |
15: 80,892,927 (GRCm39) |
N335Y |
probably damaging |
Het |
Slamf7 |
C |
T |
1: 171,468,589 (GRCm39) |
R101H |
possibly damaging |
Het |
Slc17a4 |
A |
T |
13: 24,084,503 (GRCm39) |
L427* |
probably null |
Het |
Slc35a5 |
T |
C |
16: 44,964,246 (GRCm39) |
Q329R |
probably damaging |
Het |
Slc45a1 |
C |
T |
4: 150,715,397 (GRCm39) |
C656Y |
probably damaging |
Het |
Srsf6 |
T |
C |
2: 162,773,643 (GRCm39) |
I18T |
probably damaging |
Het |
Syn3 |
T |
G |
10: 86,284,773 (GRCm39) |
H109P |
probably benign |
Het |
Synj2 |
T |
C |
17: 6,066,562 (GRCm39) |
V580A |
probably benign |
Het |
Tbc1d9b |
T |
C |
11: 50,026,742 (GRCm39) |
V70A |
possibly damaging |
Het |
Tc2n |
A |
G |
12: 101,617,406 (GRCm39) |
Y402H |
probably damaging |
Het |
Tmbim4 |
T |
C |
10: 120,059,767 (GRCm39) |
C164R |
possibly damaging |
Het |
Tnfrsf11b |
T |
A |
15: 54,117,470 (GRCm39) |
R262* |
probably null |
Het |
Tnip1 |
T |
C |
11: 54,828,805 (GRCm39) |
K121E |
probably benign |
Het |
Tut1 |
T |
C |
19: 8,941,740 (GRCm39) |
|
probably null |
Het |
Uhrf2 |
T |
A |
19: 30,052,501 (GRCm39) |
C332S |
probably damaging |
Het |
Vmn2r101 |
A |
G |
17: 19,831,950 (GRCm39) |
I649V |
possibly damaging |
Het |
Vwa8 |
A |
G |
14: 79,232,589 (GRCm39) |
T644A |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,304,357 (GRCm39) |
H1209R |
possibly damaging |
Het |
Zfp384 |
A |
G |
6: 125,008,635 (GRCm39) |
I306V |
probably benign |
Het |
Zfp964 |
A |
G |
8: 70,116,360 (GRCm39) |
E320G |
possibly damaging |
Het |
Zmym2 |
A |
T |
14: 57,193,638 (GRCm39) |
Y1151F |
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 |
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 |
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 |
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'- AGCATGCCCGCTTAAACTTC -3'
(R):5'- ACAAGCTGTCGTCCTTTCTG -3'
Sequencing Primer
(F):5'- ATCTGTTGTGGATCACGAAGACCC -3'
(R):5'- GTTCAGTTACTTGTCCGTCCAGAAC -3'
|
Posted On |
2019-11-12 |