Mutagenetix > Incidental Mutation

Incidental Mutation 'R0238:Hal'

59150

Institutional Source

Beutler Lab

Gene Symbol

Hal

Ensembl Gene

ENSMUSG00000020017

Gene Name

histidine ammonia lyase

Synonyms

histidase, Hsd

MMRRC Submission

038476-MU

Accession Numbers

Essential gene?

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

Stock #

R0238 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93324630-93352623 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93339344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 478 (S478P)

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

possibly damaging
Transcript: ENSMUST00000129421
AA Change: S478P

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017
AA Change: S478P

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

0.0922

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

98% (105/107)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	G	2: 156,392,893 (GRCm39)	V94G	probably benign	Het
Acp5	A	T	9: 22,041,218 (GRCm39)	S70T	possibly damaging	Het
Adcy1	C	G	11: 7,089,162 (GRCm39)	N525K	possibly damaging	Het
Adra1d	C	A	2: 131,388,134 (GRCm39)	V474F	probably benign	Het
Aknad1	A	G	3: 108,688,555 (GRCm39)	M628V	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Ccdc158	A	C	5: 92,809,977 (GRCm39)	M177R	probably benign	Het
Ccdc191	A	T	16: 43,767,859 (GRCm39)	R678*	probably null	Het
Cdkn2d	C	A	9: 21,202,288 (GRCm39)		probably benign	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Cfap44	T	A	16: 44,242,681 (GRCm39)	M695K	probably benign	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chd9	T	C	8: 91,659,456 (GRCm39)	S139P	probably damaging	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
Cnga1	A	G	5: 72,762,374 (GRCm39)	I380T	probably damaging	Het
Col4a1	C	T	8: 11,268,780 (GRCm39)		probably benign	Het
Cts6	T	A	13: 61,349,633 (GRCm39)	E53D	probably damaging	Het
Cul2	A	G	18: 3,414,115 (GRCm39)		probably benign	Het
Dclk3	A	T	9: 111,311,696 (GRCm39)	N646I	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Espnl	T	C	1: 91,250,009 (GRCm39)	V52A	probably damaging	Het
Fam163b	T	C	2: 27,002,646 (GRCm39)	N117S	probably damaging	Het
Fam89a	A	G	8: 125,467,971 (GRCm39)	Y114H	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gnai1	A	G	5: 18,478,548 (GRCm39)	S206P	probably damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Haus3	G	A	5: 34,323,600 (GRCm39)	P337S	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hpn	G	T	7: 30,798,815 (GRCm39)		probably benign	Het
Hspa9	A	T	18: 35,079,699 (GRCm39)	Y243*	probably null	Het
Htr3a	T	C	9: 48,817,686 (GRCm39)	T96A	probably benign	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Il4ra	T	C	7: 125,174,371 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,332,074 (GRCm39)		probably benign	Het
Irag2	G	A	6: 145,117,704 (GRCm39)		probably benign	Het
Jph3	A	G	8: 122,480,459 (GRCm39)	Q379R	possibly damaging	Het
Kcnb1	A	G	2: 166,946,889 (GRCm39)	V653A	probably benign	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Map3k21	A	G	8: 126,671,709 (GRCm39)	D999G	possibly damaging	Het
Marf1	T	C	16: 13,969,147 (GRCm39)	I109V	probably benign	Het
Mcam	T	G	9: 44,051,502 (GRCm39)		probably null	Het
Med18	T	C	4: 132,187,337 (GRCm39)	H99R	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Micu2	G	A	14: 58,154,835 (GRCm39)		probably benign	Het
Mpl	A	G	4: 118,314,060 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo1e	A	T	9: 70,249,408 (GRCm39)	I503F	possibly damaging	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Myorg	A	T	4: 41,498,912 (GRCm39)	N239K	probably benign	Het
Nbn	T	C	4: 15,986,672 (GRCm39)		probably benign	Het
Ndufa4	C	T	6: 11,906,023 (GRCm39)	V10I	probably benign	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nlrp9c	A	G	7: 26,077,437 (GRCm39)	S727P	possibly damaging	Het
Nmbr	C	T	10: 14,646,139 (GRCm39)	Q338*	probably null	Het
Nt5e	A	G	9: 88,249,385 (GRCm39)	S440G	possibly damaging	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or2ag1b	A	G	7: 106,288,462 (GRCm39)	Y159H	probably benign	Het
Or52s1	G	A	7: 102,861,933 (GRCm39)	V289M	possibly damaging	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pa2g4	T	C	10: 128,399,511 (GRCm39)	K51R	probably benign	Het
Pah	C	T	10: 87,403,143 (GRCm39)	P173S	possibly damaging	Het
Pcdhb12	A	G	18: 37,569,780 (GRCm39)	I309V	probably benign	Het
Pck1	T	G	2: 172,998,861 (GRCm39)	I373S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Pzp	C	T	6: 128,466,119 (GRCm39)		probably benign	Het
Rab39	G	A	9: 53,617,330 (GRCm39)	T29I	probably damaging	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Rars2	T	C	4: 34,645,838 (GRCm39)	Y252H	probably damaging	Het
Rars2	A	C	4: 34,656,030 (GRCm39)	Q421P	probably benign	Het
Rasa2	A	T	9: 96,450,460 (GRCm39)	D479E	probably damaging	Het
Rbl2	A	T	8: 91,833,135 (GRCm39)	T689S	probably damaging	Het
Rims4	C	T	2: 163,705,945 (GRCm39)	V230M	probably benign	Het
Scgb1b27	G	A	7: 33,721,377 (GRCm39)		probably benign	Het
Sec31b	G	A	19: 44,513,908 (GRCm39)		probably benign	Het
Six3	G	A	17: 85,928,818 (GRCm39)	G51R	probably damaging	Het
Skp2	A	C	15: 9,127,971 (GRCm39)		probably null	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc4a2	A	T	5: 24,641,272 (GRCm39)		probably null	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Susd5	A	G	9: 113,925,977 (GRCm39)	*620W	probably null	Het
Timm21	T	C	18: 84,965,791 (GRCm39)	N239S	probably damaging	Het
Tmem131	T	C	1: 36,867,131 (GRCm39)		probably benign	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tnrc6b	A	G	15: 80,772,065 (GRCm39)	D1118G	probably damaging	Het
Traf2	G	C	2: 25,427,138 (GRCm39)	A71G	possibly damaging	Het
Trim54	A	G	5: 31,291,463 (GRCm39)	M195V	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trp73	AGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTG	4: 154,146,981 (GRCm39)		probably benign	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp329	G	T	7: 12,544,756 (GRCm39)	T256K	probably damaging	Het
Zfp729b	A	G	13: 67,740,022 (GRCm39)	Y748H	probably damaging	Het
Zfp777	T	C	6: 48,001,903 (GRCm39)	E773G	probably damaging	Het
Zfp866	T	C	8: 70,219,365 (GRCm39)	Y53C	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
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
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'- CCAGTCGAGGGGAGACAATTTCAG -3'
(R):5'- GAGAAACATCAGGGCTCCTTCCAAG -3'

Sequencing Primer
(F):5'- GGAGACAATTTCAGGAGGAAAC -3'
(R):5'- TCCTTCCAAGGCAAAAGCTG -3'

Posted On

2013-07-11