Mutagenetix > Incidental Mutation

Incidental Mutation 'R3002:Hal'

257291

Institutional Source

Beutler Lab

Gene Symbol

Hal

Ensembl Gene

ENSMUSG00000020017

Gene Name

histidine ammonia lyase

Synonyms

histidase, Hsd

MMRRC Submission

040531-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R3002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93324630-93352623 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93343381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 542 (A542T)

Ref Sequence

ENSEMBL: ENSMUSP00000123336 (fasta)

Gene Model

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

AlphaFold

P35492

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: A542T

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

SMART Domains

Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017
AA Change: A542T

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: ENSMUST00000152883

Meta Mutation Damage Score

0.2356

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (41/41)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 85,973,802 (GRCm39)	W40R	possibly damaging	Het
A2m	A	G	6: 121,638,406 (GRCm39)	S873G	possibly damaging	Het
Acd	C	T	8: 106,426,913 (GRCm39)		probably null	Het
Acly	T	C	11: 100,395,053 (GRCm39)	K469E	possibly damaging	Het
Adcy6	T	C	15: 98,494,541 (GRCm39)	T767A	probably benign	Het
Bnip3	T	C	7: 138,496,430 (GRCm39)	I93V	probably benign	Het
Casq2	A	G	3: 102,052,517 (GRCm39)	D269G	probably damaging	Het
Ccdc180	A	G	4: 45,899,988 (GRCm39)	D182G	probably benign	Het
Cep112	A	G	11: 108,331,329 (GRCm39)	E178G	probably damaging	Het
Chrd	T	G	16: 20,556,195 (GRCm39)	Y585*	probably null	Het
Cnksr3	T	C	10: 7,102,856 (GRCm39)		probably benign	Het
Csmd1	A	G	8: 16,246,184 (GRCm39)	F1072L	probably damaging	Het
Dnai2	C	T	11: 114,641,297 (GRCm39)	P374L	probably damaging	Het
Eif4g1	T	A	16: 20,511,134 (GRCm39)	F1289I	probably damaging	Het
Eprs1	T	C	1: 185,156,588 (GRCm39)		probably null	Het
Fasn	T	C	11: 120,700,671 (GRCm39)	D2114G	probably benign	Het
Fbxl17	T	A	17: 63,532,072 (GRCm39)	E590D	probably damaging	Het
Flnb	G	T	14: 7,907,162 (GRCm38)	R1245L	probably benign	Het
Folh1	A	C	7: 86,372,519 (GRCm39)	I678M	probably damaging	Het
Frrs1l	G	T	4: 56,990,139 (GRCm39)		probably benign	Het
Hs3st2	T	A	7: 121,099,910 (GRCm39)	M252K	probably damaging	Het
Il27ra	G	T	8: 84,758,660 (GRCm39)	S499*	probably null	Het
Klhdc1	T	A	12: 69,302,983 (GRCm39)	V173D	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTC	7: 118,451,672 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lnx2	A	G	5: 146,955,825 (GRCm39)	V657A	probably benign	Het
Lrig1	G	A	6: 94,585,758 (GRCm39)	S810L	probably damaging	Het
Lyst	A	T	13: 13,871,290 (GRCm39)	M2676L	probably benign	Het
Mindy4	T	A	6: 55,195,349 (GRCm39)	S188T	probably benign	Het
Mrgprb3	C	T	7: 48,293,232 (GRCm39)	M106I	probably benign	Het
Ncam1	A	G	9: 49,468,526 (GRCm39)	I311T	probably damaging	Het
Ndufa8	T	A	2: 35,926,571 (GRCm39)	E155V	possibly damaging	Het
Nr4a1	A	G	15: 101,168,853 (GRCm39)		probably null	Het
Or2a12	A	G	6: 42,904,888 (GRCm39)	H241R	probably damaging	Het
Orc3	T	C	4: 34,571,790 (GRCm39)	T660A	probably benign	Het
Otub2	T	C	12: 103,370,536 (GRCm39)	S273P	probably damaging	Het
Otulinl	T	C	15: 27,664,792 (GRCm39)	T55A	probably benign	Het
Phf11c	A	G	14: 59,622,289 (GRCm39)	L241P	probably damaging	Het
Pik3ca	T	A	3: 32,516,946 (GRCm39)	I1058N	probably damaging	Het
Pkd2l1	A	G	19: 44,143,996 (GRCm39)	F359S	possibly damaging	Het
Plxnc1	A	T	10: 94,629,080 (GRCm39)	F1565I	probably damaging	Het
Polr1a	A	G	6: 71,890,000 (GRCm39)	N73S	probably benign	Het
Polr1a	T	A	6: 71,942,628 (GRCm39)	V1156E	probably benign	Het
Pon2	A	G	6: 5,268,976 (GRCm39)		probably null	Het
Ptcd1	G	A	5: 145,096,386 (GRCm39)	L236F	probably damaging	Het
Rgl2	A	G	17: 34,151,579 (GRCm39)	I208V	probably benign	Het
Rhox2e	C	A	X: 36,712,516 (GRCm39)	P69Q	probably damaging	Het
Rptor	G	A	11: 119,763,197 (GRCm39)	R927Q	possibly damaging	Het
Sec14l5	A	G	16: 4,989,746 (GRCm39)	Y230C	probably damaging	Het
Sele	G	T	1: 163,881,140 (GRCm39)	G447C	probably damaging	Het
Slc17a1	G	A	13: 24,062,564 (GRCm39)		probably null	Het
Slc2a4	A	T	11: 69,836,751 (GRCm39)	Y159*	probably null	Het
Slitrk5	A	G	14: 111,917,014 (GRCm39)	K213E	probably damaging	Het
Tdrd1	C	A	19: 56,850,182 (GRCm39)	Y981*	probably null	Het
Tex15	T	C	8: 34,064,556 (GRCm39)	Y1329H	probably benign	Het
Tgif2	C	G	2: 156,686,114 (GRCm39)	S2W	probably damaging	Het
Thoc5	A	G	11: 4,878,688 (GRCm39)	M620V	probably benign	Het
Tmeff2	C	T	1: 51,220,994 (GRCm39)	A323V	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem68	A	C	4: 3,569,588 (GRCm39)	L34W	probably damaging	Het
Tmtc4	A	T	14: 123,170,230 (GRCm39)		probably null	Het
Trpm2	A	T	10: 77,766,368 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,370,125 (GRCm39)	E714K	probably damaging	Het
Tyk2	C	A	9: 21,020,617 (GRCm39)	R938L	probably benign	Het
Usp33	A	T	3: 152,063,579 (GRCm39)	T18S	probably damaging	Het
V1rd19	A	T	7: 23,703,310 (GRCm39)	I259F	probably benign	Het
Vmn2r24	A	C	6: 123,781,231 (GRCm39)	Q479P	probably benign	Het
Vmn2r98	A	G	17: 19,286,125 (GRCm39)	M208V	probably benign	Het
Wfdc6a	C	T	2: 164,422,225 (GRCm39)	V125I	probably benign	Het
Zkscan17	A	G	11: 59,378,077 (GRCm39)	C369R	probably damaging	Het

Other mutations in Hal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Hal	APN	10	93,325,931 (GRCm39)	critical splice donor site	probably null
IGL01528:Hal	APN	10	93,333,455 (GRCm39)	missense	probably damaging	1.00
IGL01818:Hal	APN	10	93,326,846 (GRCm39)	missense	probably damaging	0.99
IGL01903:Hal	APN	10	93,336,469 (GRCm39)	splice site	probably benign
IGL02152:Hal	APN	10	93,339,404 (GRCm39)	missense	possibly damaging	0.74
IGL02249:Hal	APN	10	93,333,400 (GRCm39)	missense	probably damaging	0.99
IGL02366:Hal	APN	10	93,339,390 (GRCm39)	missense	probably damaging	1.00
IGL02421:Hal	APN	10	93,339,335 (GRCm39)	missense	probably damaging	0.98
IGL02721:Hal	APN	10	93,343,360 (GRCm39)	nonsense	probably null
2k1	UTSW	10	93,350,005 (GRCm39)	critical splice donor site	probably null
alger	UTSW	10	93,343,413 (GRCm39)	critical splice donor site	probably null
Whittaker	UTSW	10	93,352,146 (GRCm39)	missense	probably benign
R0048:Hal	UTSW	10	93,334,853 (GRCm39)	missense	probably damaging	1.00
R0238:Hal	UTSW	10	93,339,344 (GRCm39)	missense	possibly damaging	0.61
R0238:Hal	UTSW	10	93,339,344 (GRCm39)	missense	possibly damaging	0.61
R0239:Hal	UTSW	10	93,339,344 (GRCm39)	missense	possibly damaging	0.61
R0239:Hal	UTSW	10	93,339,344 (GRCm39)	missense	possibly damaging	0.61
R0372:Hal	UTSW	10	93,343,415 (GRCm39)	splice site	probably benign
R0465:Hal	UTSW	10	93,352,146 (GRCm39)	missense	probably benign
R0504:Hal	UTSW	10	93,325,036 (GRCm39)	missense	probably damaging	0.99
R1357:Hal	UTSW	10	93,336,485 (GRCm39)	missense	probably damaging	0.96
R1623:Hal	UTSW	10	93,352,159 (GRCm39)	missense	probably benign	0.00
R1757:Hal	UTSW	10	93,330,490 (GRCm39)	missense	probably benign	0.14
R1918:Hal	UTSW	10	93,332,469 (GRCm39)	missense	probably damaging	1.00
R2048:Hal	UTSW	10	93,327,002 (GRCm39)	missense	probably damaging	0.98
R2291:Hal	UTSW	10	93,339,398 (GRCm39)	missense	probably damaging	0.98
R3001:Hal	UTSW	10	93,343,381 (GRCm39)	missense	probably damaging	1.00
R3927:Hal	UTSW	10	93,349,888 (GRCm39)	splice site	probably benign
R3948:Hal	UTSW	10	93,325,769 (GRCm39)	missense	possibly damaging	0.94
R4394:Hal	UTSW	10	93,332,421 (GRCm39)	intron	probably benign
R4623:Hal	UTSW	10	93,343,301 (GRCm39)	missense	probably damaging	1.00
R4922:Hal	UTSW	10	93,339,401 (GRCm39)	missense	probably damaging	1.00
R5018:Hal	UTSW	10	93,343,413 (GRCm39)	critical splice donor site	probably null
R5072:Hal	UTSW	10	93,349,904 (GRCm39)	missense	probably damaging	0.99
R5073:Hal	UTSW	10	93,349,904 (GRCm39)	missense	probably damaging	0.99
R5074:Hal	UTSW	10	93,349,904 (GRCm39)	missense	probably damaging	0.99
R5303:Hal	UTSW	10	93,352,227 (GRCm39)	utr 3 prime	probably benign
R5806:Hal	UTSW	10	93,326,846 (GRCm39)	missense	probably damaging	0.97
R5992:Hal	UTSW	10	93,326,778 (GRCm39)	missense	probably damaging	1.00
R6294:Hal	UTSW	10	93,350,005 (GRCm39)	critical splice donor site	probably null
R6370:Hal	UTSW	10	93,333,368 (GRCm39)	missense	probably damaging	1.00
R6747:Hal	UTSW	10	93,336,539 (GRCm39)	missense	probably damaging	1.00
R7142:Hal	UTSW	10	93,336,513 (GRCm39)	missense	possibly damaging	0.85
R7299:Hal	UTSW	10	93,328,423 (GRCm39)	missense	probably benign	0.00
R7301:Hal	UTSW	10	93,328,423 (GRCm39)	missense	probably benign	0.00
R8262:Hal	UTSW	10	93,328,369 (GRCm39)	missense	probably damaging	1.00
R8459:Hal	UTSW	10	93,352,177 (GRCm39)	missense	probably benign	0.01
R8970:Hal	UTSW	10	93,325,036 (GRCm39)	missense	probably damaging	0.99
Z1176:Hal	UTSW	10	93,325,755 (GRCm39)	missense	probably benign	0.00
Z1177:Hal	UTSW	10	93,325,197 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACCCTGTGCTGTTTTGGC -3'
(R):5'- TTCAGTGCCAGACAGCATCG -3'

Sequencing Primer
(F):5'- CAGGGTTTGCCTTTAGGGATGC -3'
(R):5'- GCATCGCCTAGAAATCGCTTTAG -3'

Posted On

2015-01-11