Incidental Mutation 'R6211:Hdc'
| ID |
503436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdc
|
| Ensembl Gene |
ENSMUSG00000027360 |
| Gene Name |
histidine decarboxylase |
| Synonyms |
Hdc-s, Hdc-a, Hdc-c, Hdc-e, L-histidine decarboxylase |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R6211 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126593667-126619299 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126593977 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 658
(L658Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028838]
|
| AlphaFold |
P23738 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028838
AA Change: L658Q
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: L658Q
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
| Validation Efficiency |
100% (54/54) |
| 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 |
|---|
| 4931406P16Rik |
A |
T |
7: 34,239,004 (GRCm38) |
H1035Q |
possibly damaging |
Het |
| Acin1 |
A |
T |
14: 54,644,046 (GRCm38) |
W391R |
probably damaging |
Het |
| Arl6ip1 |
A |
T |
7: 118,127,250 (GRCm38) |
S18R |
probably benign |
Het |
| Armc3 |
G |
A |
2: 19,296,803 (GRCm38) |
|
probably null |
Het |
| Casc1 |
C |
T |
6: 145,200,491 (GRCm38) |
R95Q |
probably damaging |
Het |
| Ccdc162 |
G |
T |
10: 41,630,145 (GRCm38) |
S883* |
probably null |
Het |
| Cd300lg |
A |
G |
11: 102,054,169 (GRCm38) |
M358V |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,410,821 (GRCm38) |
V949A |
possibly damaging |
Het |
| Cenpo |
C |
T |
12: 4,216,733 (GRCm38) |
S126N |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,352,677 (GRCm38) |
D1366E |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,101,285 (GRCm38) |
E169G |
possibly damaging |
Het |
| Clec1b |
A |
G |
6: 129,401,477 (GRCm38) |
T24A |
possibly damaging |
Het |
| Clhc1 |
A |
G |
11: 29,578,145 (GRCm38) |
I558V |
probably damaging |
Het |
| Col5a2 |
T |
A |
1: 45,376,666 (GRCm38) |
R1440S |
probably damaging |
Het |
| Cops3 |
A |
G |
11: 59,817,901 (GRCm38) |
|
probably benign |
Het |
| Cxcr4 |
A |
G |
1: 128,589,450 (GRCm38) |
V158A |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,419,636 (GRCm38) |
M3781T |
probably damaging |
Het |
| Elovl5 |
C |
A |
9: 77,981,502 (GRCm38) |
T217K |
probably damaging |
Het |
| Fbln7 |
G |
T |
2: 128,895,340 (GRCm38) |
M358I |
probably damaging |
Het |
| Fbxl13 |
C |
T |
5: 21,484,021 (GRCm38) |
R763Q |
possibly damaging |
Het |
| Gabrr3 |
C |
A |
16: 59,448,108 (GRCm38) |
N361K |
probably benign |
Het |
| Gbp7 |
A |
G |
3: 142,545,993 (GRCm38) |
M534V |
probably benign |
Het |
| Hcar2 |
G |
A |
5: 123,864,954 (GRCm38) |
T162I |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 120,098,405 (GRCm38) |
Y1306C |
probably damaging |
Het |
| Homer3 |
C |
T |
8: 70,285,524 (GRCm38) |
R49C |
probably damaging |
Het |
| Hspa4 |
C |
T |
11: 53,262,939 (GRCm38) |
E702K |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 88,091,515 (GRCm38) |
N308D |
probably benign |
Het |
| Itga8 |
G |
A |
2: 12,193,509 (GRCm38) |
T555M |
probably damaging |
Het |
| Lrfn5 |
G |
T |
12: 61,839,470 (GRCm38) |
V15L |
probably benign |
Het |
| Lrrk1 |
T |
C |
7: 66,302,710 (GRCm38) |
K493E |
possibly damaging |
Het |
| Lyzl6 |
A |
G |
11: 103,635,063 (GRCm38) |
I77T |
probably damaging |
Het |
| Mavs |
G |
T |
2: 131,240,391 (GRCm38) |
R65L |
probably damaging |
Het |
| Mdn1 |
T |
G |
4: 32,696,269 (GRCm38) |
D1217E |
probably benign |
Het |
| Olfr103 |
A |
T |
17: 37,336,708 (GRCm38) |
F175I |
possibly damaging |
Het |
| Olfr1502 |
A |
G |
19: 13,862,574 (GRCm38) |
I260M |
probably benign |
Het |
| Olfr648 |
A |
T |
7: 104,179,747 (GRCm38) |
Y220* |
probably null |
Het |
| Otof |
C |
A |
5: 30,371,900 (GRCm38) |
V1762L |
probably damaging |
Het |
| Pcdha12 |
T |
C |
18: 37,020,321 (GRCm38) |
L31P |
probably damaging |
Het |
| Pxk |
C |
A |
14: 8,163,952 (GRCm38) |
P515T |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,453,542 (GRCm38) |
D1759E |
probably benign |
Het |
| Rps6ka1 |
A |
T |
4: 133,869,306 (GRCm38) |
F33Y |
probably damaging |
Het |
| Rxfp2 |
G |
A |
5: 150,044,126 (GRCm38) |
|
probably null |
Het |
| Slc23a4 |
A |
T |
6: 34,956,961 (GRCm38) |
I202N |
probably damaging |
Het |
| Slc24a5 |
A |
T |
2: 125,088,251 (GRCm38) |
I491F |
probably benign |
Het |
| Slco1a1 |
T |
A |
6: 141,909,049 (GRCm38) |
K625N |
probably benign |
Het |
| Snx31 |
A |
G |
15: 36,546,885 (GRCm38) |
V51A |
probably damaging |
Het |
| Sox6 |
G |
T |
7: 115,801,462 (GRCm38) |
H48Q |
probably damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,980,624 (GRCm38) |
Y114* |
probably null |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm38) |
G252R |
probably benign |
Het |
| Timm13 |
A |
C |
10: 80,900,480 (GRCm38) |
|
probably null |
Het |
| Tpsb2 |
G |
A |
17: 25,367,763 (GRCm38) |
A250T |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,783,128 (GRCm38) |
I131T |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,665,662 (GRCm38) |
|
probably null |
Het |
| Vmn2r35 |
T |
A |
7: 7,786,528 (GRCm38) |
I737F |
probably damaging |
Het |
| Wdr46 |
C |
A |
17: 33,944,485 (GRCm38) |
T339K |
probably damaging |
Het |
|
| Other mutations in Hdc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Hdc
|
APN |
2 |
126,601,872 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01024:Hdc
|
APN |
2 |
126,603,846 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL01393:Hdc
|
APN |
2 |
126,594,661 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL01802:Hdc
|
APN |
2 |
126,603,894 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01958:Hdc
|
APN |
2 |
126,594,532 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL02193:Hdc
|
APN |
2 |
126,601,780 (GRCm38) |
splice site |
probably benign |
|
|
IGL02494:Hdc
|
APN |
2 |
126,594,121 (GRCm38) |
missense |
probably benign |
|
|
IGL02696:Hdc
|
APN |
2 |
126,594,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02874:Hdc
|
APN |
2 |
126,601,676 (GRCm38) |
missense |
probably benign |
0.21 |
|
R0453:Hdc
|
UTSW |
2 |
126,594,951 (GRCm38) |
splice site |
probably benign |
|
|
R0528:Hdc
|
UTSW |
2 |
126,616,232 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1337:Hdc
|
UTSW |
2 |
126,616,276 (GRCm38) |
missense |
probably benign |
|
|
R1862:Hdc
|
UTSW |
2 |
126,597,933 (GRCm38) |
missense |
probably benign |
0.36 |
|
R1938:Hdc
|
UTSW |
2 |
126,606,397 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1994:Hdc
|
UTSW |
2 |
126,616,187 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2230:Hdc
|
UTSW |
2 |
126,594,018 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R2257:Hdc
|
UTSW |
2 |
126,616,080 (GRCm38) |
splice site |
probably null |
|
|
R2921:Hdc
|
UTSW |
2 |
126,593,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2923:Hdc
|
UTSW |
2 |
126,593,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3620:Hdc
|
UTSW |
2 |
126,616,267 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R3621:Hdc
|
UTSW |
2 |
126,616,267 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R3914:Hdc
|
UTSW |
2 |
126,603,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4076:Hdc
|
UTSW |
2 |
126,616,261 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4114:Hdc
|
UTSW |
2 |
126,601,818 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4213:Hdc
|
UTSW |
2 |
126,597,866 (GRCm38) |
splice site |
probably null |
|
|
R4827:Hdc
|
UTSW |
2 |
126,594,313 (GRCm38) |
missense |
probably benign |
|
|
R4889:Hdc
|
UTSW |
2 |
126,594,133 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5013:Hdc
|
UTSW |
2 |
126,604,300 (GRCm38) |
missense |
probably benign |
0.33 |
|
R5593:Hdc
|
UTSW |
2 |
126,618,584 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R5604:Hdc
|
UTSW |
2 |
126,594,663 (GRCm38) |
missense |
probably benign |
|
|
R5637:Hdc
|
UTSW |
2 |
126,616,189 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6312:Hdc
|
UTSW |
2 |
126,607,406 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7730:Hdc
|
UTSW |
2 |
126,594,082 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7889:Hdc
|
UTSW |
2 |
126,616,210 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8328:Hdc
|
UTSW |
2 |
126,601,883 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8482:Hdc
|
UTSW |
2 |
126,594,205 (GRCm38) |
missense |
probably benign |
|
|
R8517:Hdc
|
UTSW |
2 |
126,597,970 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9136:Hdc
|
UTSW |
2 |
126,597,866 (GRCm38) |
splice site |
probably null |
|
|
R9139:Hdc
|
UTSW |
2 |
126,597,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9208:Hdc
|
UTSW |
2 |
126,594,680 (GRCm38) |
missense |
probably benign |
0.32 |
|
R9515:Hdc
|
UTSW |
2 |
126,616,229 (GRCm38) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCCGCTTAAACTTCCCAG -3'
(R):5'- TATGAGTGCCCAGAAGTCACTC -3'
Sequencing Primer
(F):5'- ACAATCTGTTGTGGATCACGAAGAC -3'
(R):5'- GAAGTCACTCCCCGCAGACG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation