Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02696:Hdc'

303926

Institutional Source

Australian Phenomics Network (link to record)

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: 0.899) question?

Stock #

IGL02696

Quality Score

Status

Chromosome

Chromosomal Location

126593667-126619299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126594300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 550 (D550E)

Ref Sequence

ENSEMBL: ENSMUSP00000028838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028838]

AlphaFold

P23738

Predicted Effect

probably damaging
Transcript: ENSMUST00000028838
AA Change: D550E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: D550E

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,982,671	T43A	probably benign	Het
Adgrd1	T	C	5: 129,140,854		probably benign	Het
Asxl1	T	A	2: 153,400,195	Y888*	probably null	Het
Atp8b5	T	C	4: 43,369,634	V924A	possibly damaging	Het
AU040320	T	C	4: 126,842,587	L821P	probably damaging	Het
Capn11	T	C	17: 45,632,709	N596S	probably damaging	Het
Cnot1	C	A	8: 95,745,017	V1219F	probably benign	Het
Cope	T	C	8: 70,310,493		probably null	Het
Crim1	A	G	17: 78,279,973	E169G	probably damaging	Het
Csmd3	A	T	15: 47,669,669	F2395I	probably benign	Het
Ctso	A	C	3: 81,951,384	D220A	possibly damaging	Het
Cttnbp2	G	A	6: 18,434,129	P577S	probably benign	Het
D930048N14Rik	T	A	11: 51,653,994		probably benign	Het
Dck	T	A	5: 88,772,807	S129T	probably damaging	Het
Dlc1	A	G	8: 36,574,172	V1301A	possibly damaging	Het
Dusp16	G	A	6: 134,718,435	R478C	probably damaging	Het
Ermap	C	T	4: 119,187,707	R49K	possibly damaging	Het
Flnc	A	G	6: 29,446,698	K969R	probably damaging	Het
Gjb2	A	T	14: 57,100,312	F146L	probably damaging	Het
Hs6st3	A	T	14: 119,869,319	I380F	probably damaging	Het
Htr1d	T	C	4: 136,443,411	V317A	probably benign	Het
Kalrn	A	T	16: 34,220,114	M963K	probably damaging	Het
Kl	T	A	5: 150,980,985	S401T	probably benign	Het
Lair1	A	G	7: 4,010,849		probably benign	Het
Lrp5	C	T	19: 3,602,253	V1206I	probably benign	Het
Matn4	A	G	2: 164,396,838	F343S	probably benign	Het
Mrgpra4	G	T	7: 47,981,503	R117S	possibly damaging	Het
Myh14	T	C	7: 44,665,106	Y131C	probably damaging	Het
Nap1l4	A	T	7: 143,524,161	N345K	possibly damaging	Het
Oas1c	T	C	5: 120,805,463	R204G	probably benign	Het
Olfr1061	T	A	2: 86,413,615	T146S	probably benign	Het
Olfr677	A	G	7: 105,056,362	T39A	probably benign	Het
Pakap	T	A	4: 57,854,663	D58E	probably damaging	Het
Pin1	G	A	9: 20,663,235	G150E	probably benign	Het
R3hdm2	T	C	10: 127,465,019		probably null	Het
Rai1	C	A	11: 60,193,956	H1843Q	probably benign	Het
Siae	G	T	9: 37,631,384	A194S	probably damaging	Het
Slc6a12	G	T	6: 121,363,252	V485L	probably benign	Het
Stil	T	G	4: 115,041,495	S1107R	probably damaging	Het
Syt16	T	C	12: 74,129,411	V18A	possibly damaging	Het
Trpm8	A	G	1: 88,348,051	D457G	probably damaging	Het
Tshr	A	T	12: 91,493,329	T66S	possibly damaging	Het
Ttn	T	A	2: 76,707,295	Q34763L	probably benign	Het
Ubr2	T	A	17: 46,963,765	M830L	probably benign	Het
Ulk1	A	G	5: 110,793,052	F337S	probably damaging	Het

Other mutations in Hdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Hdc	APN	2	126601872	missense	probably benign	0.00
IGL01024:Hdc	APN	2	126603846	missense	probably benign	0.32
IGL01393:Hdc	APN	2	126594661	missense	probably benign	0.28
IGL01802:Hdc	APN	2	126603894	missense	probably benign	0.04
IGL01958:Hdc	APN	2	126594532	missense	possibly damaging	0.87
IGL02193:Hdc	APN	2	126601780	splice site	probably benign
IGL02494:Hdc	APN	2	126594121	missense	probably benign
IGL02874:Hdc	APN	2	126601676	missense	probably benign	0.21
R0453:Hdc	UTSW	2	126594951	splice site	probably benign
R0528:Hdc	UTSW	2	126616232	missense	probably benign	0.00
R1337:Hdc	UTSW	2	126616276	missense	probably benign
R1862:Hdc	UTSW	2	126597933	missense	probably benign	0.36
R1938:Hdc	UTSW	2	126606397	missense	possibly damaging	0.86
R1994:Hdc	UTSW	2	126616187	missense	probably damaging	1.00
R2230:Hdc	UTSW	2	126594018	missense	possibly damaging	0.65
R2257:Hdc	UTSW	2	126616080	splice site	probably null
R2921:Hdc	UTSW	2	126593990	missense	probably damaging	1.00
R2923:Hdc	UTSW	2	126593990	missense	probably damaging	1.00
R3620:Hdc	UTSW	2	126616267	missense	possibly damaging	0.86
R3621:Hdc	UTSW	2	126616267	missense	possibly damaging	0.86
R3914:Hdc	UTSW	2	126603006	missense	probably damaging	1.00
R4076:Hdc	UTSW	2	126616261	missense	possibly damaging	0.92
R4114:Hdc	UTSW	2	126601818	missense	probably benign	0.16
R4213:Hdc	UTSW	2	126597866	splice site	probably null
R4827:Hdc	UTSW	2	126594313	missense	probably benign
R4889:Hdc	UTSW	2	126594133	missense	probably benign	0.00
R5013:Hdc	UTSW	2	126604300	missense	probably benign	0.33
R5593:Hdc	UTSW	2	126618584	utr 5 prime	probably benign
R5604:Hdc	UTSW	2	126594663	missense	probably benign
R5637:Hdc	UTSW	2	126616189	missense	probably benign	0.02
R6211:Hdc	UTSW	2	126593977	missense	probably damaging	0.98
R6312:Hdc	UTSW	2	126607406	missense	possibly damaging	0.65
R7730:Hdc	UTSW	2	126594082	missense	possibly damaging	0.51
R7889:Hdc	UTSW	2	126616210	missense	probably damaging	1.00
R8328:Hdc	UTSW	2	126601883	missense	probably damaging	1.00
R8482:Hdc	UTSW	2	126594205	missense	probably benign
R8517:Hdc	UTSW	2	126597970	critical splice acceptor site	probably null
R9136:Hdc	UTSW	2	126597866	splice site	probably null
R9139:Hdc	UTSW	2	126597917	missense	probably damaging	1.00
R9208:Hdc	UTSW	2	126594680	missense	probably benign	0.32
R9515:Hdc	UTSW	2	126616229	missense	probably damaging	0.96

Posted On

2015-04-16