Mutagenetix > Incidental Mutation

Incidental Mutation 'R2291:Hal'

244360

Institutional Source

Beutler Lab

Gene Symbol

Hal

Ensembl Gene

ENSMUSG00000020017

Gene Name

histidine ammonia lyase

Synonyms

histidase, Hsd

MMRRC Submission

040290-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R2291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93324630-93352623 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93339398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 496 (F496L)

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: F496L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017
AA Change: F496L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,207,450 (GRCm39)	I247N	probably damaging	Het
Afdn	A	G	17: 14,109,153 (GRCm39)	K1559E	probably damaging	Het
Ankhd1	C	T	18: 36,777,386 (GRCm39)	T1523I	probably benign	Het
Apc	T	A	18: 34,445,544 (GRCm39)	N795K	probably benign	Het
Arhgap26	G	T	18: 39,490,751 (GRCm39)		probably benign	Het
Atm	C	T	9: 53,402,209 (GRCm39)		probably null	Het
Atp1a4	T	C	1: 172,072,473 (GRCm39)	N394D	probably damaging	Het
Brinp3	T	A	1: 146,776,812 (GRCm39)	S420T	possibly damaging	Het
Cacna1d	G	T	14: 29,764,299 (GRCm39)	R2078S	probably damaging	Het
Cacna1e	T	C	1: 154,279,429 (GRCm39)	D1720G	probably damaging	Het
Camk2a	T	A	18: 61,097,031 (GRCm39)	V38E	probably damaging	Het
Camk4	G	A	18: 33,240,996 (GRCm39)		probably null	Het
Ccr7	G	A	11: 99,036,161 (GRCm39)	R254C	probably damaging	Het
Celf5	C	T	10: 81,302,881 (GRCm39)	G267D	probably damaging	Het
Cfap65	G	A	1: 74,965,634 (GRCm39)	P459S	probably damaging	Het
Chd1l	T	C	3: 97,498,599 (GRCm39)	K267E	probably damaging	Het
Chl1	T	A	6: 103,692,354 (GRCm39)	Y331N	probably damaging	Het
Cltc	G	A	11: 86,624,448 (GRCm39)	T158I	probably benign	Het
Col16a1	T	A	4: 129,960,833 (GRCm39)	D430E	unknown	Het
Cspg4	T	C	9: 56,800,027 (GRCm39)	V1597A	probably damaging	Het
Cstf2t	T	A	19: 31,062,264 (GRCm39)	L600H	probably benign	Het
Cyp27b1	T	C	10: 126,884,163 (GRCm39)	V5A	possibly damaging	Het
Depdc5	C	A	5: 33,136,746 (GRCm39)	Q1339K	probably damaging	Het
Diaph3	G	T	14: 87,203,882 (GRCm39)	P592Q	probably damaging	Het
Dync2i1	A	T	12: 116,193,191 (GRCm39)		probably null	Het
Epha8	T	C	4: 136,660,658 (GRCm39)	M687V	probably damaging	Het
Fhod1	T	A	8: 106,063,596 (GRCm39)		probably benign	Het
Gls2	C	A	10: 128,043,479 (GRCm39)	S73*	probably null	Het
Gm3604	T	A	13: 62,519,657 (GRCm39)	M33L	probably damaging	Het
Gpr39	A	G	1: 125,605,278 (GRCm39)	T69A	probably benign	Het
Hipk1	T	C	3: 103,668,926 (GRCm39)	E490G	probably damaging	Het
Ints7	T	G	1: 191,338,315 (GRCm39)		probably null	Het
Itpr3	A	G	17: 27,332,553 (GRCm39)	E1799G	possibly damaging	Het
Kif11	T	A	19: 37,395,451 (GRCm39)	M570K	probably benign	Het
Kif18b	G	T	11: 102,799,096 (GRCm39)	Q702K	probably damaging	Het
Kif19a	A	G	11: 114,681,019 (GRCm39)	T247A	probably damaging	Het
Lama3	A	G	18: 12,658,136 (GRCm39)	E360G	probably damaging	Het
Loxl3	G	T	6: 83,014,469 (GRCm39)	A126S	probably benign	Het
Mc5r	C	T	18: 68,472,435 (GRCm39)	R265W	probably damaging	Het
Mpl	A	G	4: 118,306,197 (GRCm39)	V340A	probably benign	Het
Mrpl13	G	T	15: 55,411,615 (GRCm39)	H56Q	probably damaging	Het
Msr1	T	C	8: 40,077,263 (GRCm39)	T116A	probably benign	Het
N4bp3	T	C	11: 51,536,930 (GRCm39)	K48E	probably damaging	Het
Naaladl1	A	G	19: 6,156,225 (GRCm39)	T104A	probably benign	Het
Neu1	C	T	17: 35,151,742 (GRCm39)	R179W	probably damaging	Het
Or10d5	T	C	9: 39,861,630 (GRCm39)	T146A	probably benign	Het
Or8k21	A	T	2: 86,145,524 (GRCm39)	Y35*	probably null	Het
Osbp	G	T	19: 11,951,198 (GRCm39)	E248*	probably null	Het
Otx1	T	A	11: 21,946,634 (GRCm39)		probably benign	Het
Parp4	A	T	14: 56,851,274 (GRCm39)	Q759L	probably damaging	Het
Pax6	A	C	2: 105,516,228 (GRCm39)	S169R	probably benign	Het
Pigg	T	G	5: 108,480,783 (GRCm39)	I389M	probably damaging	Het
Pla2g4a	C	A	1: 149,776,940 (GRCm39)	V59F	probably damaging	Het
Plcb4	A	T	2: 135,781,903 (GRCm39)	Q241H	probably benign	Het
Plpp6	A	G	19: 28,941,720 (GRCm39)	D107G	probably damaging	Het
Ppp6r2	T	A	15: 89,159,690 (GRCm39)	L459Q	probably damaging	Het
Prss55	A	T	14: 64,313,171 (GRCm39)	W238R	probably damaging	Het
Rgl1	C	T	1: 152,412,032 (GRCm39)	E446K	probably damaging	Het
Ric3	C	T	7: 108,638,090 (GRCm39)	G221D	probably damaging	Het
Rnf167	T	C	11: 70,540,129 (GRCm39)	F83S	probably damaging	Het
Ryr1	C	T	7: 28,798,202 (GRCm39)	V947M	probably damaging	Het
Scn1a	A	G	2: 66,119,312 (GRCm39)	L1397P	probably benign	Het
Sh3bp1	T	A	15: 78,802,519 (GRCm39)	V251E	possibly damaging	Het
Slc25a10	A	T	11: 120,387,900 (GRCm39)	I198L	probably benign	Het
Smoc2	A	T	17: 14,589,233 (GRCm39)	N234I	possibly damaging	Het
Spdl1	T	A	11: 34,710,136 (GRCm39)	K382*	probably null	Het
Ssrp1	G	A	2: 84,872,660 (GRCm39)		probably null	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Triqk	T	A	4: 12,974,817 (GRCm39)		probably null	Het
Ttc19	T	C	11: 62,174,519 (GRCm39)	Y128H	probably damaging	Het
Vmn1r15	T	C	6: 57,235,677 (GRCm39)	S182P	possibly damaging	Het
Vmn1r226	A	G	17: 20,908,475 (GRCm39)	I236V	probably damaging	Het
Vmn2r120	A	C	17: 57,816,479 (GRCm39)	N625K	probably damaging	Het
Vmn2r78	T	C	7: 86,569,362 (GRCm39)	I85T	probably damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Wnt7a	C	T	6: 91,371,468 (GRCm39)	V165I	probably benign	Het
Zbtb40	A	T	4: 136,712,328 (GRCm39)	Y1127N	possibly damaging	Het
Zfyve1	A	T	12: 83,594,705 (GRCm39)	H762Q	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
R3001:Hal	UTSW	10	93,343,381 (GRCm39)	missense	probably damaging	1.00
R3002: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'- TACCCAGCCAAAGTAAGCTTTC -3'
(R):5'- GCTTGCTAAGTTAGGCATGAGAG -3'

Sequencing Primer
(F):5'- CTGAAAGTGCATTCCAGTGC -3'
(R):5'- TTAGGCATGAGAGATAGCATACACAC -3'

Posted On

2014-10-30