Mutagenetix > Incidental Mutation

Incidental Mutation 'R1337:Hdc'

156893

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

039402-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R1337 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126593667-126619299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126616276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 42 (Q42R)

Ref Sequence

ENSEMBL: ENSMUSP00000028838 (fasta)

Gene Model

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

AlphaFold

P23738

Predicted Effect

probably benign
Transcript: ENSMUST00000028838
AA Change: Q42R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028838
Gene: ENSMUSG00000027360
AA Change: Q42R

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: 98.6%
10x: 97.1%
20x: 95.0%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,769,033	S37P	unknown	Het
Abca12	T	C	1: 71,294,819	I1175V	probably benign	Het
Ager	G	T	17: 34,600,622		probably null	Het
Amph	G	A	13: 19,142,028	V643M	probably damaging	Het
Cacna1c	A	G	6: 118,627,455	I1278T	probably damaging	Het
Casp8ap2	T	C	4: 32,645,721	V1598A	possibly damaging	Het
Cdk12	T	C	11: 98,245,671		probably null	Het
Ces2g	A	T	8: 104,963,965	Y126F	possibly damaging	Het
Ehbp1l1	A	T	19: 5,718,230	M1015K	probably benign	Het
Engase	A	G	11: 118,482,574	T248A	possibly damaging	Het
Gsdma	C	T	11: 98,669,707	Q162*	probably null	Het
Hapln3	T	C	7: 79,118,076	E190G	probably benign	Het
Larp1b	C	T	3: 41,033,402	P20S	probably damaging	Het
Macf1	T	G	4: 123,476,275	R1564S	probably benign	Het
Muc5b	A	G	7: 141,858,624	Y1769C	unknown	Het
Nup88	T	A	11: 70,944,890	Q576L	probably damaging	Het
Olfr566	T	C	7: 102,856,871	N137S	probably benign	Het
Olfr836	A	G	9: 19,121,803	I280V	probably benign	Het
Prune2	C	T	19: 17,119,607	S825L	possibly damaging	Het
Ryr3	C	A	2: 112,779,963	M2301I	possibly damaging	Het
Sdk2	A	C	11: 113,832,331	V1278G	possibly damaging	Het
Sertad3	T	C	7: 27,476,441	L100P	probably damaging	Het
Slco5a1	T	C	1: 12,939,142	T370A	probably benign	Het
Srrm1	A	G	4: 135,346,733		probably null	Het
Stk32a	A	G	18: 43,261,349	D121G	probably benign	Het
Ttc7	A	T	17: 87,290,296	R99W	probably damaging	Het
Xkr9	C	A	1: 13,701,124	S288Y	possibly damaging	Het
Zfp644	A	G	5: 106,637,554	S376P	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
IGL02696:Hdc	APN	2	126594300	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATTGCCCTGCCACACTGAGTCAAG -3'
(R):5'- ACCCTTACTCTCAAGGACGCACTG -3'

Sequencing Primer
(F):5'- CACTGAGTCAAGCAAGGGTTTC -3'
(R):5'- ACTGGGGACCAGTTCTACC -3'

Posted On

2014-02-11