Incidental Mutation 'IGL01903:Hal'
ID 179609
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hal
Ensembl Gene ENSMUSG00000020017
Gene Name histidine ammonia lyase
Synonyms histidase, Hsd
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL01903
Quality Score
Status
Chromosome 10
Chromosomal Location 93324630-93352623 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 93336469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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

DomainStartEndE-ValueType
low complexity region 60 71 N/A INTRINSIC
SCOP:d1gkma_ 114 161 6e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129421
SMART Domains Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017

DomainStartEndE-ValueType
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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,949,050 (GRCm39) probably benign Het
Adad1 T A 3: 37,139,231 (GRCm39) probably null Het
Asxl3 T A 18: 22,567,633 (GRCm39) D70E probably benign Het
Atat1 T A 17: 36,208,692 (GRCm39) I380L probably benign Het
Ccnj A G 19: 40,834,454 (GRCm39) E351G probably damaging Het
Clca4b A T 3: 144,634,020 (GRCm39) Y132N probably damaging Het
Cttnbp2 A C 6: 18,501,964 (GRCm39) V16G probably damaging Het
Gcdh A T 8: 85,615,233 (GRCm39) L389Q probably damaging Het
Ggta1 A T 2: 35,292,569 (GRCm39) F258Y possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm3696 T A 14: 18,434,983 (GRCm39) probably benign Het
Gramd2b A T 18: 56,607,101 (GRCm39) S72C probably damaging Het
Haus4 A T 14: 54,779,886 (GRCm39) S288T possibly damaging Het
Herc1 A T 9: 66,294,154 (GRCm39) K499* probably null Het
Hyou1 C T 9: 44,292,438 (GRCm39) probably benign Het
Kng2 C T 16: 22,806,540 (GRCm39) R553Q possibly damaging Het
Leng9 G A 7: 4,151,746 (GRCm39) A310V probably damaging Het
Magi3 G T 3: 103,958,526 (GRCm39) Q520K possibly damaging Het
Mark1 A G 1: 184,661,577 (GRCm39) probably benign Het
Mybl1 T A 1: 9,741,801 (GRCm39) probably null Het
Ncapd2 A G 6: 125,154,423 (GRCm39) S598P probably benign Het
Or14j5 T C 17: 37,920,758 (GRCm39) I295V possibly damaging Het
Or4k47 T C 2: 111,452,003 (GRCm39) K139E probably benign Het
Or5a3 G A 19: 12,400,047 (GRCm39) V125I probably benign Het
Or5aq1 A C 2: 86,965,723 (GRCm39) probably null Het
Otud6b C T 4: 14,818,458 (GRCm39) E148K probably benign Het
Pgghg A G 7: 140,526,741 (GRCm39) Q686R probably benign Het
Pkhd1 C A 1: 20,268,361 (GRCm39) C3339F probably damaging Het
Pla2g4a T C 1: 149,716,370 (GRCm39) D697G possibly damaging Het
Serping1 A T 2: 84,600,116 (GRCm39) probably null Het
Sfxn4 T C 19: 60,847,118 (GRCm39) Y55C probably damaging Het
Sh3bp5l A G 11: 58,236,864 (GRCm39) R274G probably damaging Het
Snx13 A G 12: 35,135,968 (GRCm39) T88A probably benign Het
Spz1 G T 13: 92,711,407 (GRCm39) N356K probably damaging Het
Taf2 A T 15: 54,923,412 (GRCm39) F288L probably benign Het
Tti1 T C 2: 157,842,542 (GRCm39) E829G probably benign Het
Ube2z T C 11: 95,955,826 (GRCm39) D92G possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r7 A G 3: 64,626,864 (GRCm39) Y142H probably benign Het
Zfp397 T A 18: 24,093,086 (GRCm39) N190K probably benign Het
Other mutations in Hal
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2014-05-07