Incidental Mutation 'R5637:Hdc'
| ID |
440413 |
| 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 # |
R5637 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
126435587-126461219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126458109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 71
(V71A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028838]
|
| AlphaFold |
P23738 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028838
AA Change: V71A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: V71A
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
C |
1: 127,694,050 (GRCm39) |
F327L |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,841,391 (GRCm39) |
S824Y |
probably damaging |
Het |
| Arfip2 |
A |
G |
7: 105,286,370 (GRCm39) |
M144T |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,158,502 (GRCm39) |
N179S |
probably damaging |
Het |
| Ash2l |
T |
C |
8: 26,317,339 (GRCm39) |
Y249C |
probably damaging |
Het |
| Ccndbp1 |
A |
G |
2: 120,842,165 (GRCm39) |
T141A |
probably benign |
Het |
| Cd177 |
T |
A |
7: 24,455,748 (GRCm39) |
H258L |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,714,332 (GRCm39) |
W1956R |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,245,108 (GRCm39) |
|
probably null |
Het |
| Cngb1 |
T |
C |
8: 95,984,549 (GRCm39) |
H420R |
probably damaging |
Het |
| Cobl |
C |
T |
11: 12,246,531 (GRCm39) |
|
probably benign |
Het |
| Cobll1 |
T |
C |
2: 64,956,247 (GRCm39) |
D337G |
possibly damaging |
Het |
| Dmrta1 |
A |
G |
4: 89,577,068 (GRCm39) |
N175D |
probably benign |
Het |
| Dnah7b |
G |
T |
1: 46,395,674 (GRCm39) |
V3859L |
possibly damaging |
Het |
| Dnah7c |
A |
G |
1: 46,799,521 (GRCm39) |
|
probably null |
Het |
| Dusp4 |
C |
A |
8: 35,284,451 (GRCm39) |
H255Q |
probably damaging |
Het |
| Evx1 |
T |
C |
6: 52,292,751 (GRCm39) |
V134A |
possibly damaging |
Het |
| F12 |
T |
C |
13: 55,570,228 (GRCm39) |
K93E |
possibly damaging |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,852,277 (GRCm39) |
N1267D |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,560,358 (GRCm39) |
I1383T |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gpr158 |
A |
G |
2: 21,788,083 (GRCm39) |
I575V |
probably benign |
Het |
| Helb |
G |
A |
10: 119,941,353 (GRCm39) |
T445M |
probably benign |
Het |
| Inppl1 |
A |
T |
7: 101,478,055 (GRCm39) |
S652R |
probably benign |
Het |
| Itpripl1 |
T |
C |
2: 126,984,044 (GRCm39) |
D26G |
probably damaging |
Het |
| Klc1 |
T |
A |
12: 111,740,842 (GRCm39) |
L106H |
probably damaging |
Het |
| Klhl25 |
T |
A |
7: 75,515,540 (GRCm39) |
|
probably null |
Het |
| Krt6a |
T |
C |
15: 101,600,714 (GRCm39) |
D318G |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,302,762 (GRCm39) |
N2989S |
probably damaging |
Het |
| Lta4h |
A |
G |
10: 93,304,731 (GRCm39) |
|
probably null |
Het |
| Man1c1 |
A |
G |
4: 134,318,735 (GRCm39) |
S251P |
probably damaging |
Het |
| Mapre2 |
T |
C |
18: 23,886,919 (GRCm39) |
|
probably benign |
Het |
| Mfap3l |
A |
T |
8: 61,109,821 (GRCm39) |
I66F |
probably damaging |
Het |
| Mvk |
A |
G |
5: 114,594,003 (GRCm39) |
E286G |
possibly damaging |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Or14a260 |
G |
A |
7: 85,984,812 (GRCm39) |
T264I |
probably benign |
Het |
| Or4f52 |
T |
A |
2: 111,061,456 (GRCm39) |
K227N |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,279 (GRCm39) |
V160D |
possibly damaging |
Het |
| Pcdh9 |
A |
G |
14: 94,123,198 (GRCm39) |
F991L |
possibly damaging |
Het |
| Pcdha9 |
T |
C |
18: 37,131,426 (GRCm39) |
V165A |
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,618,745 (GRCm39) |
H437R |
probably damaging |
Het |
| Pfas |
C |
T |
11: 68,884,149 (GRCm39) |
V589M |
probably damaging |
Het |
| Prpf40a |
A |
G |
2: 53,046,746 (GRCm39) |
V288A |
possibly damaging |
Het |
| Rnf183 |
T |
C |
4: 62,346,387 (GRCm39) |
D137G |
probably benign |
Het |
| Rsph6a |
A |
G |
7: 18,788,820 (GRCm39) |
S51G |
probably benign |
Het |
| Scap |
G |
A |
9: 110,210,640 (GRCm39) |
A991T |
possibly damaging |
Het |
| Sdk2 |
C |
A |
11: 113,724,005 (GRCm39) |
V1222F |
probably damaging |
Het |
| Sdr16c6 |
T |
A |
4: 4,063,232 (GRCm39) |
N181I |
possibly damaging |
Het |
| Semp2l2a |
A |
T |
8: 13,887,713 (GRCm39) |
M126K |
possibly damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,356,037 (GRCm39) |
D20V |
probably damaging |
Het |
| Sh3bp2 |
C |
A |
5: 34,718,392 (GRCm39) |
R531S |
possibly damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Sox2 |
A |
G |
3: 34,704,677 (GRCm39) |
N38S |
probably benign |
Het |
| Spg7 |
C |
A |
8: 123,821,314 (GRCm39) |
Q680K |
possibly damaging |
Het |
| Styk1 |
T |
C |
6: 131,277,381 (GRCm39) |
E331G |
possibly damaging |
Het |
| Tkfc |
G |
A |
19: 10,571,897 (GRCm39) |
R380W |
probably benign |
Het |
| Trib3 |
A |
G |
2: 152,180,410 (GRCm39) |
F261S |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,793,998 (GRCm39) |
Q62L |
possibly damaging |
Het |
| Vmn2r54 |
T |
C |
7: 12,349,296 (GRCm39) |
Y762C |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,167,628 (GRCm39) |
Y627* |
probably null |
Het |
| Zfp12 |
A |
G |
5: 143,231,451 (GRCm39) |
K625E |
probably damaging |
Het |
| Zw10 |
T |
C |
9: 48,968,950 (GRCm39) |
V38A |
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 |
|
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 |
|
|
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'- AGCACTACAGGTCAGCACTG -3'
(R):5'- AAGGAAATGTGACCCGGTTCC -3'
Sequencing Primer
(F):5'- TACAGGTCAGCACTGGCACAAG -3'
(R):5'- CTCTGCTTCTGTCCAGGGAAAGAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation