Mutagenetix > Incidental Mutations

Incidental Mutation 'R7301:Hal'

566992

Institutional Source

Beutler Lab

Gene Symbol

Hal

Ensembl Gene

ENSMUSG00000020017

Gene Name

histidine ammonia lyase

Synonyms

histidase, Hsd

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7301 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93488768-93519304 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93492561 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 233 (V233A)

Ref Sequence

ENSEMBL: ENSMUSP00000123336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016031] [ENSMUST00000129421]

Predicted Effect

probably benign
Transcript: ENSMUST00000016031

SMART Domains

Protein: ENSMUSP00000016031
Gene: ENSMUSG00000020017

Domain	Start	End	E-Value	Type
low complexity region	60	71	N/A	INTRINSIC
SCOP:d1gkma_	114	161	6e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129421
AA Change: V233A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017
AA Change: V233A

Domain	Start	End	E-Value	Type
Pfam:DUF3534	3	128	6e-9	PFAM
Pfam:Lyase_aromatic	116	590	1.3e-199	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the histidase protein family. The encoded protein is a cytosolic enzyme which catalyzes the first reaction in histidine catabolism. Defects in this protein cause histidinemia, which is characterized by increased histidine in blood, urine, and cerebrospinal fluid. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mutations in this gene cause elevated histidine levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,777,085	S345N	possibly damaging	Het
Agk	A	T	6: 40,329,517	T7S	possibly damaging	Het
Ankrd26	T	C	6: 118,511,663	E1345G	possibly damaging	Het
Atp1a3	T	A	7: 24,990,515	Y493F	probably benign	Het
Atxn2l	G	T	7: 126,494,211	Y791*	probably null	Het
Cacng8	C	A	7: 3,415,421	T363K	probably benign	Het
Camkmt	A	G	17: 85,431,493	T216A	probably benign	Het
Cd2ap	G	A	17: 42,830,013	R212*	probably null	Het
Cnppd1	A	G	1: 75,136,424	L400P	probably damaging	Het
Csmd2	C	A	4: 128,528,262	D2797E		Het
Ddx24	A	G	12: 103,419,450	M298T	possibly damaging	Het
Dpyd	T	C	3: 118,899,284	V359A	possibly damaging	Het
Dscam	T	C	16: 97,056,532	T93A	probably benign	Het
Eif2b3	T	A	4: 117,052,822	S185T	probably benign	Het
Entpd2	T	A	2: 25,400,909	I475N	possibly damaging	Het
Ercc2	C	A	7: 19,394,135	Q715K	probably benign	Het
Fam122a	T	A	19: 24,477,124	H78L	probably benign	Het
Fam122a	T	A	19: 24,477,346	E4V	probably damaging	Het
Fam186b	T	C	15: 99,278,748	R754G	probably benign	Het
Fcgbp	T	A	7: 28,093,436	V955E	possibly damaging	Het
Frrs1	T	C	3: 116,895,563	V361A	possibly damaging	Het
Gabrr2	T	A	4: 33,095,284	M391K	probably benign	Het
Gm12394	T	C	4: 42,792,923	N403S	possibly damaging	Het
Gm3409	T	A	5: 146,539,547	D169E	probably benign	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 101,794,171		probably benign	Het
Greb1l	C	G	18: 10,544,970	Q1433E	probably damaging	Het
Ighv1-58	A	T	12: 115,312,295	N74K	probably benign	Het
Il12rb1	A	G	8: 70,813,699	I229M	possibly damaging	Het
Il17rd	T	C	14: 27,076,391	I56T	possibly damaging	Het
Itpr1	T	C	6: 108,542,024	V2708A	possibly damaging	Het
Klhl38	G	A	15: 58,322,980	R118W	probably damaging	Het
Lmf2	C	A	15: 89,355,530		probably benign	Het
Lrrc3b	T	C	14: 15,357,934	Y224C	probably damaging	Het
Med1	A	C	11: 98,152,808	F599C	probably benign	Het
Mrgprb4	A	G	7: 48,198,758	S141P	probably damaging	Het
Mst1r	G	T	9: 107,914,790	A842S	possibly damaging	Het
Myo3a	T	C	2: 22,544,466		probably null	Het
Nos1	A	T	5: 117,867,905	D230V	possibly damaging	Het
Nppb	T	C	4: 147,986,323	S52P	probably benign	Het
Nqo1	A	G	8: 107,392,648	I99T	probably damaging	Het
Olfr346	T	A	2: 36,688,011	M3K	probably benign	Het
Olfr769	T	C	10: 129,111,699	H242R	probably damaging	Het
Pcdha3	G	A	18: 36,946,924	E240K	possibly damaging	Het
Plpp7	T	G	2: 32,096,055	F82V	probably benign	Het
Podxl	G	T	6: 31,524,436	P395T	probably damaging	Het
Prr5l	T	A	2: 101,717,286	D298V	probably damaging	Het
Rad9b	A	G	5: 122,352,614	V13A	possibly damaging	Het
Rasl2-9	A	G	7: 5,125,740	W64R	probably damaging	Het
Rilp	G	T	11: 75,510,116		probably benign	Het
Ripor2	T	C	13: 24,725,001	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,936,020	Y338H	probably damaging	Het
Shisa5	G	T	9: 109,054,884		probably benign	Het
Slc27a4	C	T	2: 29,812,932	T591I	probably null	Het
Snx24	G	T	18: 53,340,172	V63F	probably damaging	Het
Sptbn1	A	T	11: 30,117,798	Y1805*	probably null	Het
Svep1	G	A	4: 58,046,587	Q3515*	probably null	Het
Synpo2	A	C	3: 123,114,053	M538R	probably benign	Het
Tfap2a	T	C	13: 40,721,308	K276E	probably damaging	Het
Tmem158	C	A	9: 123,260,301	S82I	probably damaging	Het
Tmtc3	G	T	10: 100,447,474	H740N	not run	Het
Top3a	A	T	11: 60,748,148	F559I	probably damaging	Het
Tysnd1	C	A	10: 61,696,549	P327T	possibly damaging	Het
Ulk4	T	A	9: 121,145,059	D969V	probably benign	Het
Vcan	T	A	13: 89,705,266	Y525F	probably benign	Het
Vmn1r127	A	G	7: 21,319,053	F270S	probably benign	Het
Vmn1r204	G	A	13: 22,556,805	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,345,616	I64M	probably benign	Het
Zfp280b	C	G	10: 76,038,703	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,357,143	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,357,144	G143S	probably benign	Het
Zfyve26	A	T	12: 79,282,984	V476D	probably benign	Het
Zkscan6	A	T	11: 65,828,225	H357L	probably benign	Het

Other mutations in Hal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Hal	APN	10	93490069	critical splice donor site	probably null
IGL01528:Hal	APN	10	93497593	missense	probably damaging	1.00
IGL01818:Hal	APN	10	93490984	missense	probably damaging	0.99
IGL01903:Hal	APN	10	93500607	splice site	probably benign
IGL02152:Hal	APN	10	93503542	missense	possibly damaging	0.74
IGL02249:Hal	APN	10	93497538	missense	probably damaging	0.99
IGL02366:Hal	APN	10	93503528	missense	probably damaging	1.00
IGL02421:Hal	APN	10	93503473	missense	probably damaging	0.98
IGL02721:Hal	APN	10	93507498	nonsense	probably null
2k1	UTSW	10	93514143	critical splice donor site	probably null
alger	UTSW	10	93507551	critical splice donor site	probably null
Whittaker	UTSW	10	93516284	missense	probably benign
R0048:Hal	UTSW	10	93498991	missense	probably damaging	1.00
R0238:Hal	UTSW	10	93503482	missense	possibly damaging	0.61
R0238:Hal	UTSW	10	93503482	missense	possibly damaging	0.61
R0239:Hal	UTSW	10	93503482	missense	possibly damaging	0.61
R0239:Hal	UTSW	10	93503482	missense	possibly damaging	0.61
R0372:Hal	UTSW	10	93507553	splice site	probably benign
R0465:Hal	UTSW	10	93516284	missense	probably benign
R0504:Hal	UTSW	10	93489174	missense	probably damaging	0.99
R1357:Hal	UTSW	10	93500623	missense	probably damaging	0.96
R1623:Hal	UTSW	10	93516297	missense	probably benign	0.00
R1757:Hal	UTSW	10	93494628	missense	probably benign	0.14
R1918:Hal	UTSW	10	93496607	missense	probably damaging	1.00
R2048:Hal	UTSW	10	93491140	missense	probably damaging	0.98
R2291:Hal	UTSW	10	93503536	missense	probably damaging	0.98
R3001:Hal	UTSW	10	93507519	missense	probably damaging	1.00
R3002:Hal	UTSW	10	93507519	missense	probably damaging	1.00
R3927:Hal	UTSW	10	93514026	splice site	probably benign
R3948:Hal	UTSW	10	93489907	missense	possibly damaging	0.94
R4394:Hal	UTSW	10	93496559	intron	probably benign
R4623:Hal	UTSW	10	93507439	missense	probably damaging	1.00
R4922:Hal	UTSW	10	93503539	missense	probably damaging	1.00
R5018:Hal	UTSW	10	93507551	critical splice donor site	probably null
R5072:Hal	UTSW	10	93514042	missense	probably damaging	0.99
R5073:Hal	UTSW	10	93514042	missense	probably damaging	0.99
R5074:Hal	UTSW	10	93514042	missense	probably damaging	0.99
R5303:Hal	UTSW	10	93516365	utr 3 prime	probably benign
R5806:Hal	UTSW	10	93490984	missense	probably damaging	0.97
R5992:Hal	UTSW	10	93490916	missense	probably damaging	1.00
R6294:Hal	UTSW	10	93514143	critical splice donor site	probably null
R6370:Hal	UTSW	10	93497506	missense	probably damaging	1.00
R6747:Hal	UTSW	10	93500677	missense	probably damaging	1.00
R7142:Hal	UTSW	10	93500651	missense	possibly damaging	0.85
R7299:Hal	UTSW	10	93492561	missense	probably benign	0.00
Z1176:Hal	UTSW	10	93489893	missense	probably benign	0.00
Z1177:Hal	UTSW	10	93489335	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTTGAGAAGCAAGACTGGC -3'
(R):5'- CAATTGCCAACCAGGTCTCC -3'

Sequencing Primer
(F):5'- TGGCAACAGGGAGCACCATC -3'
(R):5'- AGGTCTCCTTCTTGCCAAATCAG -3'

Posted On

2019-06-26