Incidental Mutation 'IGL01393:Hdc'
| ID |
79293 |
| 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 # |
IGL01393
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
126435587-126461219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126436581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 430
(V430A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028838]
|
| AlphaFold |
P23738 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028838
AA Change: V430A
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: V430A
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
A |
14: 35,818,379 (GRCm39) |
V126I |
possibly damaging |
Het |
| A630073D07Rik |
G |
T |
6: 132,603,577 (GRCm39) |
Q60K |
unknown |
Het |
| Alpk2 |
A |
G |
18: 65,440,779 (GRCm39) |
S205P |
possibly damaging |
Het |
| Ang4 |
T |
A |
14: 52,001,670 (GRCm39) |
I93L |
probably benign |
Het |
| Arpin |
A |
G |
7: 79,581,588 (GRCm39) |
V44A |
possibly damaging |
Het |
| Atxn3 |
A |
T |
12: 101,899,306 (GRCm39) |
C263* |
probably null |
Het |
| Cd209f |
T |
C |
8: 4,153,154 (GRCm39) |
N260S |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,861,969 (GRCm39) |
R50G |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,006,818 (GRCm39) |
S1060P |
unknown |
Het |
| Csmd3 |
C |
T |
15: 48,320,995 (GRCm39) |
V272I |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,206,706 (GRCm39) |
Y1136F |
possibly damaging |
Het |
| Fam20c |
A |
G |
5: 138,793,026 (GRCm39) |
Y420C |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,554,321 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,160,135 (GRCm39) |
D3326G |
probably benign |
Het |
| Filip1l |
A |
G |
16: 57,392,586 (GRCm39) |
N820S |
probably damaging |
Het |
| Gm26566 |
G |
A |
4: 88,640,581 (GRCm39) |
|
probably benign |
Het |
| Gm4792 |
A |
G |
10: 94,134,304 (GRCm39) |
L22P |
unknown |
Het |
| Gpat2 |
A |
G |
2: 127,274,571 (GRCm39) |
E386G |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,639,856 (GRCm39) |
D63G |
probably benign |
Het |
| Hnf4a |
T |
C |
2: 163,393,492 (GRCm39) |
|
probably benign |
Het |
| Il2ra |
A |
G |
2: 11,687,865 (GRCm39) |
D215G |
probably damaging |
Het |
| Kctd3 |
T |
C |
1: 188,732,487 (GRCm39) |
I74V |
probably benign |
Het |
| Kctd5 |
A |
T |
17: 24,278,292 (GRCm39) |
|
probably null |
Het |
| Lrsam1 |
A |
T |
2: 32,845,185 (GRCm39) |
|
probably benign |
Het |
| Mblac1 |
A |
G |
5: 138,193,036 (GRCm39) |
N126S |
possibly damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,937,692 (GRCm39) |
|
probably benign |
Het |
| Mpp3 |
A |
T |
11: 101,916,304 (GRCm39) |
L16Q |
probably damaging |
Het |
| Mrgprb1 |
C |
A |
7: 48,097,754 (GRCm39) |
A53S |
possibly damaging |
Het |
| Nbea |
C |
A |
3: 55,912,729 (GRCm39) |
M1019I |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,103,599 (GRCm39) |
K22R |
probably null |
Het |
| Or1j4 |
G |
A |
2: 36,740,553 (GRCm39) |
R165Q |
probably benign |
Het |
| Or2ag18 |
C |
T |
7: 106,405,642 (GRCm39) |
G9E |
probably benign |
Het |
| Or4k48 |
A |
G |
2: 111,475,601 (GRCm39) |
V247A |
probably damaging |
Het |
| Pard6b |
T |
A |
2: 167,929,298 (GRCm39) |
S35T |
probably benign |
Het |
| Peli1 |
T |
C |
11: 21,097,400 (GRCm39) |
V215A |
probably benign |
Het |
| Pkp4 |
A |
T |
2: 59,178,269 (GRCm39) |
D1003V |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,744,630 (GRCm39) |
R625* |
probably null |
Het |
| Ppp1r16a |
T |
C |
15: 76,578,744 (GRCm39) |
S483P |
probably benign |
Het |
| Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
| Prrg3 |
T |
C |
X: 71,011,123 (GRCm39) |
V210A |
probably benign |
Het |
| Rev1 |
A |
G |
1: 38,131,144 (GRCm39) |
V168A |
probably damaging |
Het |
| Sez6l |
G |
T |
5: 112,586,261 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,934,926 (GRCm39) |
T711A |
possibly damaging |
Het |
| Spice1 |
A |
G |
16: 44,186,993 (GRCm39) |
I163M |
probably benign |
Het |
| Tex13c1 |
C |
T |
X: 42,680,233 (GRCm39) |
A66V |
probably damaging |
Het |
| Tmem132d |
A |
T |
5: 127,861,702 (GRCm39) |
S806R |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,932,291 (GRCm39) |
|
probably benign |
Het |
| Tpbg |
T |
A |
9: 85,726,145 (GRCm39) |
V38E |
unknown |
Het |
| Unc13c |
T |
A |
9: 73,447,552 (GRCm39) |
I1883F |
probably benign |
Het |
| Vmn2r61 |
A |
C |
7: 41,916,258 (GRCm39) |
Q290H |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,180,719 (GRCm39) |
|
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,442,288 (GRCm39) |
V294A |
possibly damaging |
Het |
| Zfp821 |
T |
A |
8: 110,436,110 (GRCm39) |
|
probably benign |
Het |
| Zfp941 |
C |
T |
7: 140,391,841 (GRCm39) |
G506E |
probably 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 |
|
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 |
2013-11-05 |
Incidental Mutation