Incidental Mutation 'IGL02366:Hal'
ID290723
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hal
Ensembl Gene ENSMUSG00000020017
Gene Namehistidine ammonia lyase
Synonymshistidase, Hsd
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL02366
Quality Score
Status
Chromosome10
Chromosomal Location93488768-93519304 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93503528 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 493 (N493S)
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

DomainStartEndE-ValueType
low complexity region 60 71 N/A INTRINSIC
SCOP:d1gkma_ 114 161 6e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129421
AA Change: N493S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123336
Gene: ENSMUSG00000020017
AA Change: N493S

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik T A 15: 12,810,773 H339L probably benign Het
Abcc1 T C 16: 14,467,979 probably benign Het
Ankrd55 T C 13: 112,318,460 Y3H probably damaging Het
Armcx4 A C X: 134,691,512 K723T possibly damaging Het
Brinp3 T A 1: 146,701,743 V172D possibly damaging Het
Cemip C T 7: 83,943,641 R1226Q probably benign Het
Cntn5 A T 9: 9,984,055 probably benign Het
Cyld T C 8: 88,729,753 V474A probably damaging Het
Dhx40 T C 11: 86,776,702 E537G probably damaging Het
Efhc1 A G 1: 20,960,262 N140D probably damaging Het
Eif6 A G 2: 155,826,172 V49A probably benign Het
Epha4 G T 1: 77,426,711 Y386* probably null Het
Ggnbp2 T C 11: 84,841,601 K222R probably damaging Het
Gm5117 T C 8: 31,737,859 noncoding transcript Het
Gm5852 A T 3: 93,727,261 noncoding transcript Het
Hadha A G 5: 30,135,050 V243A probably benign Het
Insrr A G 3: 87,809,909 T731A possibly damaging Het
Irs4 A T X: 141,723,904 L432H probably damaging Het
Kdm4a T G 4: 118,160,506 probably null Het
Lhx4 T C 1: 155,705,188 D197G possibly damaging Het
Mllt10 T A 2: 18,065,087 M18K probably damaging Het
Nars T C 18: 64,503,528 T422A possibly damaging Het
Ncf2 A G 1: 152,835,073 D445G probably benign Het
Ndor1 C A 2: 25,247,981 G544V possibly damaging Het
Notch3 C A 17: 32,144,205 R1268L probably benign Het
Olfr1472 T C 19: 13,454,127 Y130C probably damaging Het
Olfr229 T C 9: 39,909,992 L63P probably damaging Het
Olfr616 A T 7: 103,564,415 V288D probably damaging Het
Olfr771 A T 10: 129,160,625 Y120N probably damaging Het
Osgep T C 14: 50,919,950 D72G probably damaging Het
Pank4 C T 4: 154,969,628 T88I probably benign Het
Pcgf6 T C 19: 47,050,455 E122G possibly damaging Het
Ppp1r21 A G 17: 88,547,662 H123R probably damaging Het
Prex1 A C 2: 166,580,427 L28R probably damaging Het
Rbl1 A T 2: 157,174,893 N595K probably benign Het
Rnf148 T C 6: 23,654,059 I313V probably benign Het
Rnf220 T C 4: 117,489,783 N144S probably benign Het
Sbno2 G A 10: 80,064,202 T577I probably damaging Het
Sez6 T C 11: 77,976,882 I875T probably damaging Het
Slco1a5 A T 6: 142,250,215 V354D possibly damaging Het
Slit2 A T 5: 48,304,068 T1486S possibly damaging Het
Snd1 T C 6: 28,707,150 probably benign Het
Sval3 T C 6: 41,969,725 probably benign Het
Tmem94 T C 11: 115,797,432 L1239P probably damaging Het
Trpm6 T C 19: 18,778,510 probably benign Het
Ttc9 A C 12: 81,631,610 D69A possibly damaging Het
Ttn A T 2: 76,763,236 L20687M probably benign Het
Zfp748 T A 13: 67,545,427 probably benign Het
Other mutations in Hal
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6747:Hal UTSW 10 93500677 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
Posted On2015-04-16