Mutagenetix > Incidental Mutations

Incidental Mutation 'R6747:Hal'

530598

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: 0.101) question?

Stock #

R6747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93488768-93519304 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93500677 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 423 (N423Y)

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 damaging
Transcript: ENSMUST00000129421
AA Change: N423Y

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

SMART Domains

Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017
AA Change: N423Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152883

Meta Mutation Damage Score

0.8809

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 122,126,313		probably null	Het
Acyp1	C	T	12: 85,278,905	V107I	probably null	Het
Aftph	T	C	11: 20,726,144		probably null	Het
Agtpbp1	A	T	13: 59,544,353		probably null	Het
Arhgap15	C	A	2: 44,116,677	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,407,729	V557A	probably damaging	Het
Asb3	T	A	11: 31,081,493	M410K	probably benign	Het
B4galnt2	T	C	11: 95,868,634		probably null	Het
Birc3	A	G	9: 7,860,261		probably null	Het
Cav2	A	T	6: 17,286,951	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,795,667	C826Y	probably benign	Het
Cenpf	T	A	1: 189,652,854	T2410S	probably benign	Het
Chchd1	A	G	14: 20,703,380	D24G	probably benign	Het
Cmip	G	A	8: 117,436,879	G450S	probably benign	Het
Col11a1	C	T	3: 114,212,450	Q534*	probably null	Het
Col3a1	G	T	1: 45,338,622		probably benign	Het
Cox4i1	T	C	8: 120,673,230	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,646,767	V168F	probably damaging	Het
Dapk1	T	C	13: 60,725,340	I352T	probably benign	Het
Ddx52	T	C	11: 83,955,302	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,416,088	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,636,062	T369A	probably benign	Het
Dppa1	T	A	11: 46,625,595	I8F	unknown	Het
Ebf1	G	T	11: 44,883,814	V213F	probably damaging	Het
Foxb2	C	A	19: 16,872,833	E270*	probably null	Het
Gclc	A	T	9: 77,788,245	R450W	probably damaging	Het
Gm13128	T	C	4: 144,332,978	W420R	probably benign	Het
Grin2d	T	C	7: 45,862,268	E251G	probably damaging	Het
Krtap4-8	T	A	11: 99,780,091	I185F	unknown	Het
Lrp3	T	A	7: 35,211,437	Q61L	probably benign	Het
Met	A	C	6: 17,571,467	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,297,699	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,782,981	W16C	probably benign	Het
Myh13	G	A	11: 67,350,419	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,203,381	T453I	probably benign	Het
Nos2	A	G	11: 78,952,954	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,882,344	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,591,724	D149G	probably benign	Het
Olfr203	T	C	16: 59,303,641	F164L	probably benign	Het
Olfr690	C	T	7: 105,330,027	R55H	probably benign	Het
Pcbp4	C	A	9: 106,460,648		probably null	Het
Peg10	A	G	6: 4,757,137		probably benign	Het
Pms2	C	T	5: 143,925,419	P154L	probably benign	Het
Pou6f2	A	C	13: 18,129,187	L112R	probably benign	Het
Prdm6	A	T	18: 53,465,046		probably benign	Het
Prob1	G	A	18: 35,655,154	R12W	probably damaging	Het
Rif1	T	A	2: 52,078,263		probably null	Het
Rpl9-ps6	A	G	19: 32,466,143	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906		probably benign	Homo
Sec23ip	A	G	7: 128,752,849		silent	Het
Slc38a9	T	C	13: 112,690,180	C151R	probably benign	Het
Slc39a8	T	C	3: 135,849,180		probably null	Het
Slc6a18	C	A	13: 73,677,991		probably benign	Het
Snw1	T	C	12: 87,464,710	D57G	probably damaging	Het
Sox6	C	G	7: 115,541,731	R505P	probably damaging	Het
Speg	T	C	1: 75,410,395		probably null	Het
Spire2	C	T	8: 123,356,846	R190C	probably damaging	Het
Stard9	A	C	2: 120,698,383	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,343,243	T237K	probably damaging	Het
Themis2	T	A	4: 132,796,262	E31V	possibly damaging	Het
Trim56	T	G	5: 137,114,521	Q47P	probably damaging	Het
Trim58	T	C	11: 58,651,264	I350T	probably benign	Het
Ttll7	C	T	3: 146,944,056	P639S	probably benign	Het
Ubxn6	A	G	17: 56,070,650		probably null	Het
Vmn2r114	A	T	17: 23,309,876	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,231,422	M822L	probably benign	Het
Vps9d1	T	C	8: 123,254,007	D27G	probably damaging	Het
Wdr3	C	T	3: 100,138,724	R931Q	probably damaging	Het
Whamm	G	A	7: 81,578,302		probably null	Het
Zcchc24	T	C	14: 25,757,033	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894	K2050R	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
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
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
Z1176:Hal	UTSW	10	93489893	missense	probably benign	0.00
Z1177:Hal	UTSW	10	93489335	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCATGCCCTAAGCCAGTTATAC -3'
(R):5'- GCATGGTAGGCTCAGAATCC -3'

Sequencing Primer
(F):5'- TGAAGTCAGTCTCTGGGT -3'
(R):5'- GGTCACAGATCCGACTCTGAC -3'

Posted On

2018-08-01