Mutagenetix > Incidental Mutation

Incidental Mutation 'R5992:Hal'

480898

Institutional Source

Beutler Lab

Gene Symbol

Hal

Ensembl Gene

ENSMUSG00000020017

Gene Name

histidine ammonia lyase

Synonyms

histidase, Hsd

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5992 (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 G at 93490916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 138 (L138R)

Ref Sequence

ENSEMBL: ENSMUSP00000123336 (fasta)

Gene Model

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

AlphaFold

P35492

Predicted Effect

probably damaging
Transcript: ENSMUST00000016031
AA Change: L138R

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

SMART Domains

Protein: ENSMUSP00000016031
Gene: ENSMUSG00000020017
AA Change: L138R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129421
AA Change: L138R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017
AA Change: L138R

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,508,623	L188*	probably null	Het
Acod1	C	T	14: 103,055,035	R332C	probably damaging	Het
Adamts3	T	A	5: 89,691,335	K852M	probably damaging	Het
Adm	A	T	7: 110,627,696		probably benign	Het
Aff4	A	G	11: 53,373,010	S286G	probably damaging	Het
Ank2	A	G	3: 126,959,651		probably null	Het
Aqr	A	T	2: 114,143,049	Y427*	probably null	Het
Arid1b	C	A	17: 4,994,956		probably benign	Het
Arpp21	T	A	9: 112,143,485	R259*	probably null	Het
Cep290	C	T	10: 100,543,321	A55V	possibly damaging	Het
Chsy3	GT	G	18: 59,176,166	163	probably null	Het
Clcn2	T	C	16: 20,713,654	E68G	possibly damaging	Het
Corin	T	A	5: 72,316,389	H699L	probably benign	Het
Cyld	T	C	8: 88,733,053	Y446H	probably damaging	Het
Dcst1	T	A	3: 89,352,576	E613V	probably damaging	Het
Dlk1	T	C	12: 109,455,581	C74R	probably damaging	Het
Dnah12	A	C	14: 26,697,341	K128T	probably benign	Het
Dspp	T	A	5: 104,178,451	S893R	unknown	Het
Dtl	A	T	1: 191,568,572		probably null	Het
F2rl1	T	A	13: 95,514,270	S35C	probably benign	Het
Fcgbp	A	T	7: 28,120,534	Y2562F	probably benign	Het
Fgf10	A	T	13: 118,715,508	D42V	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm21190	T	A	5: 15,524,851	E256D	probably damaging	Het
Gm5157	A	G	7: 21,185,421	S66P	probably damaging	Het
Gm884	A	T	11: 103,613,792	M2450K	possibly damaging	Het
Hsd17b3	T	C	13: 64,059,470		probably null	Het
Lrsam1	T	C	2: 32,955,222	T94A	probably benign	Het
Macc1	T	C	12: 119,447,585	V696A	probably damaging	Het
Magi2	G	A	5: 19,227,291	M1I	probably null	Het
March7	C	A	2: 60,245,220	N674K	probably benign	Het
Mfap1b	A	G	2: 121,470,295	V34A	probably benign	Het
Mob3b	G	A	4: 35,084,069	S40L	probably benign	Het
Ndufs2	A	T	1: 171,236,418	V386E	probably damaging	Het
Nfic	C	T	10: 81,420,747	A19T	probably damaging	Het
Nfs1	G	A	2: 156,134,453	R174W	probably damaging	Het
Nin	G	T	12: 70,045,524	S670R	possibly damaging	Het
Nrxn1	T	C	17: 90,623,507	I754V	probably benign	Het
Nwd1	T	C	8: 72,653,573		probably null	Het
Olfr1231	T	A	2: 89,303,359	T78S	possibly damaging	Het
Olfr1238	T	A	2: 89,406,879	M67L	probably benign	Het
Olfr575	G	T	7: 102,955,009	N197K	probably benign	Het
Pcdhgb8	A	G	18: 37,763,449	E524G	probably damaging	Het
Phlpp1	A	T	1: 106,318,993	R638*	probably null	Het
Pkmyt1	G	C	17: 23,735,326	W360S	probably benign	Het
Plxnd1	C	A	6: 115,967,787		probably null	Het
Poldip3	A	T	15: 83,129,229	N322K	probably damaging	Het
Prmt3	A	T	7: 49,828,947	I419L	probably benign	Het
Prss36	A	T	7: 127,944,830	V123E	probably damaging	Het
Prss58	A	G	6: 40,897,769	I46T	probably damaging	Het
Rac1	T	C	5: 143,506,998		probably benign	Het
Rb1cc1	A	G	1: 6,233,996	Y36C	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rp1	A	T	1: 4,148,703	F951L	unknown	Het
Rps6ka5	G	T	12: 100,575,250	P417T	possibly damaging	Het
Ryr1	A	G	7: 29,067,637	W2967R	probably damaging	Het
Sacs	T	A	14: 61,205,543	S1679R	probably damaging	Het
Scn1a	A	C	2: 66,335,456	W153G	probably damaging	Het
Serpinb7	A	G	1: 107,445,996	Y114C	probably damaging	Het
Son	T	C	16: 91,658,904	M1513T	probably benign	Het
Spag8	C	T	4: 43,651,534	V447M	probably benign	Het
St3gal2	T	A	8: 110,969,553	Y257N	probably damaging	Het
Tars	A	T	15: 11,397,196	D40E	probably damaging	Het
Tlr3	T	C	8: 45,397,814	H158R	probably benign	Het
Tppp2	G	T	14: 51,918,935	V50L	probably benign	Het
Trrap	T	C	5: 144,810,184	S1503P	probably benign	Het
Ttll4	T	G	1: 74,685,391	S573R	probably damaging	Het
Vmn2r104	A	T	17: 20,029,485	N841K	probably damaging	Het
Vmn2r3	A	T	3: 64,259,647	C688S	probably damaging	Het
Vps16	T	C	2: 130,424,449		probably null	Het
Zfp608	G	A	18: 54,899,248	T540I	probably benign	Het
Zfp775	G	A	6: 48,619,816	R208Q	probably damaging	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
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
R7301:Hal	UTSW	10	93492561	missense	probably benign	0.00
R8262:Hal	UTSW	10	93492507	missense	probably damaging	1.00
R8459:Hal	UTSW	10	93516315	missense	probably benign	0.01
R8970:Hal	UTSW	10	93489174	missense	probably damaging	0.99
Z1176:Hal	UTSW	10	93489893	missense	probably benign	0.00
Z1177:Hal	UTSW	10	93489335	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGAATCCAAGGCTACTCC -3'
(R):5'- GGTGATGCCATAAACAACTGG -3'

Sequencing Primer
(F):5'- GGCTACTCCTTCAAAGCCC -3'
(R):5'- TGATGCCATAAACAACTGGAGTAC -3'

Posted On

2017-06-26