Incidental Mutation 'R5604:Hdc'
| ID |
439162 |
| 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 |
| MMRRC Submission |
043156-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R5604 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
126593667-126619299 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126594663 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 429
(S429R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028838]
|
| AlphaFold |
P23738 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028838
AA Change: S429R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: S429R
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
A |
T |
16: 88,759,390 (GRCm38) |
N164I |
possibly damaging |
Het |
| 4933402J07Rik |
C |
A |
8: 87,568,497 (GRCm38) |
R88S |
possibly damaging |
Het |
| Abca1 |
A |
T |
4: 53,067,168 (GRCm38) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,566,279 (GRCm38) |
I4406K |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,490,800 (GRCm38) |
Y412* |
probably null |
Het |
| Ahcyl2 |
C |
T |
6: 29,908,367 (GRCm38) |
H370Y |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,987,005 (GRCm38) |
Y693C |
probably damaging |
Het |
| Anapc4 |
T |
A |
5: 52,841,734 (GRCm38) |
Y129* |
probably null |
Het |
| Ankrd35 |
A |
G |
3: 96,684,899 (GRCm38) |
T834A |
probably benign |
Het |
| Antxr2 |
T |
C |
5: 97,948,310 (GRCm38) |
K372E |
probably damaging |
Het |
| Arhgef1 |
C |
T |
7: 24,912,785 (GRCm38) |
H198Y |
probably benign |
Het |
| Barhl2 |
T |
C |
5: 106,455,546 (GRCm38) |
E249G |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 143,012,021 (GRCm38) |
E987G |
probably benign |
Het |
| C87436 |
T |
C |
6: 86,447,355 (GRCm38) |
S290P |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,313,804 (GRCm38) |
T490M |
probably damaging |
Het |
| Cd8b1 |
T |
C |
6: 71,326,175 (GRCm38) |
V78A |
probably benign |
Het |
| Cdc25c |
A |
G |
18: 34,733,648 (GRCm38) |
Y374H |
probably damaging |
Het |
| Cmya5 |
C |
T |
13: 93,092,763 (GRCm38) |
R1939H |
probably benign |
Het |
| Cyp2d40 |
A |
G |
15: 82,764,055 (GRCm38) |
F19S |
probably damaging |
Het |
| Dll3 |
A |
G |
7: 28,294,632 (GRCm38) |
V460A |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,892,752 (GRCm38) |
|
probably null |
Het |
| E4f1 |
A |
G |
17: 24,444,144 (GRCm38) |
I729T |
probably damaging |
Het |
| Endou |
A |
C |
15: 97,720,919 (GRCm38) |
S75A |
probably benign |
Het |
| Epas1 |
C |
T |
17: 86,805,772 (GRCm38) |
H129Y |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 10,746,735 (GRCm38) |
N415Y |
probably damaging |
Het |
| Hnf4g |
C |
T |
3: 3,657,126 (GRCm38) |
Q447* |
probably null |
Het |
| Htr6 |
C |
T |
4: 139,061,503 (GRCm38) |
A414T |
probably benign |
Het |
| Insig1 |
T |
C |
5: 28,075,082 (GRCm38) |
L224P |
probably damaging |
Het |
| Ipo9 |
G |
A |
1: 135,402,245 (GRCm38) |
L486F |
probably damaging |
Het |
| Irak2 |
T |
A |
6: 113,690,831 (GRCm38) |
S458T |
possibly damaging |
Het |
| Irs2 |
A |
G |
8: 11,005,007 (GRCm38) |
S1142P |
possibly damaging |
Het |
| Kirrel1 |
T |
A |
3: 87,089,155 (GRCm38) |
N379I |
possibly damaging |
Het |
| L3mbtl4 |
T |
A |
17: 68,777,922 (GRCm38) |
D609E |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,439,348 (GRCm38) |
T537A |
probably benign |
Het |
| Lce1i |
A |
T |
3: 92,777,749 (GRCm38) |
V40E |
unknown |
Het |
| Mprip |
T |
A |
11: 59,758,467 (GRCm38) |
V999D |
probably benign |
Het |
| Myd88 |
G |
T |
9: 119,339,763 (GRCm38) |
T85K |
possibly damaging |
Het |
| Or1e35 |
T |
A |
11: 73,907,027 (GRCm38) |
H155L |
probably benign |
Het |
| Padi6 |
A |
T |
4: 140,731,162 (GRCm38) |
M473K |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,268,882 (GRCm38) |
S97C |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,833,877 (GRCm38) |
D2026V |
probably damaging |
Het |
| Plcxd1 |
T |
C |
5: 110,102,585 (GRCm38) |
V264A |
probably benign |
Het |
| Plekha4 |
T |
C |
7: 45,549,156 (GRCm38) |
S558P |
probably damaging |
Het |
| Ppm1a |
T |
A |
12: 72,790,681 (GRCm38) |
M334K |
probably benign |
Het |
| Ppp1r13l |
T |
C |
7: 19,375,599 (GRCm38) |
S684P |
possibly damaging |
Het |
| Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,893,123 (GRCm38) |
|
probably null |
Het |
| Prl2a1 |
T |
C |
13: 27,806,386 (GRCm38) |
|
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,525,122 (GRCm38) |
K753E |
probably benign |
Het |
| Qrich1 |
A |
G |
9: 108,559,303 (GRCm38) |
|
probably benign |
Het |
| Ror2 |
G |
A |
13: 53,117,165 (GRCm38) |
R373C |
probably benign |
Het |
| Rtn4 |
C |
A |
11: 29,708,140 (GRCm38) |
L765I |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,473,520 (GRCm38) |
|
probably null |
Het |
| Setd2 |
T |
A |
9: 110,604,216 (GRCm38) |
D62E |
probably damaging |
Het |
| Ss18 |
A |
T |
18: 14,636,520 (GRCm38) |
Y327N |
unknown |
Het |
| Ticam1 |
G |
A |
17: 56,271,756 (GRCm38) |
T113I |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 123,174,236 (GRCm38) |
I1134V |
probably damaging |
Het |
| Top3b |
T |
G |
16: 16,889,535 (GRCm38) |
Y526* |
probably null |
Het |
| Tph2 |
T |
C |
10: 115,090,709 (GRCm38) |
E384G |
probably damaging |
Het |
| Ttll11 |
A |
T |
2: 35,817,786 (GRCm38) |
I503N |
probably benign |
Het |
| Zfp87 |
T |
G |
13: 67,517,826 (GRCm38) |
K172N |
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 |
|
|
R5637:Hdc
|
UTSW |
2 |
126,616,189 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6211:Hdc
|
UTSW |
2 |
126,593,977 (GRCm38) |
missense |
probably damaging |
0.98 |
|
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'- CTGCTTGATGATCTTCCGGG -3'
(R):5'- AAGGTACTGTGCTCTTGCATGG -3'
Sequencing Primer
(F):5'- TGACTGACTCCAGGGATAGC -3'
(R):5'- TTGCATGGCTCCCGGAGAAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation